#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
HOXA1	3198	hgsc.bcm.edu	37	7	27135338	27135338	+	Missense_Mutation	SNP	T	T	G	rs146782650|rs533892779	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:27135338T>G	ENST00000343060.4	-	1	255	c.194A>C	c.(193-195)cAc>cCc	p.H65P	HOXA1_ENST00000355633.5_Missense_Mutation_p.H65P|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	65	Poly-His.				abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						gtggtggtggtggGGCGAACC	0.637											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		11	0.00219649	0.0061	0.0	5008	,	,		10402	0.0		0.001	False		,,,				2504	0.002																0			7						T	PRO/HIS,PRO/HIS	0,4406		0,0,2203	35.0	38.0	37.0		194,194	4.1	1.0	7	dbSNP_134	37	4,8596	3.0+/-9.4	0,4,4296	no	missense,missense	HOXA1	NM_005522.4,NM_153620.2	77,77	0,4,6499	GG,GT,TT		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging	65/336,65/138	27135338	4,13002	2203	4300	6503	27101863	SO:0001583	missense	3198				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.194A>C	7.37:g.27135338T>G	ENSP00000343246:p.His65Pro	792	27101863	A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	CCDS5401.1	53	0.024267399267399268	11	0.022357723577235773	10	0.027624309392265192	14	0.024475524475524476	18	0.023746701846965697	T	6.238	0.411954	0.11812	0.0	4.65E-4	ENSG00000105991	ENST00000343060;ENST00000355633	D;T	0.90844	-2.74;0.83	5.26	4.12	0.48240	.	0.390179	0.22852	N	0.054849	T	0.66218	0.2767	N	0.17474	0.49	0.35904	D	0.830584	B;P	0.52316	0.277;0.952	B;P	0.47470	0.029;0.548	T	0.77143	-0.2696	10	0.24483	T	0.36	.	7.4412	0.27185	0.0:0.1595:0.0:0.8405	.	65;65	P49639;E7ERT8	HXA1_HUMAN;.	P	65	ENSP00000343246:H65P;ENSP00000347851:H65P	ENSP00000343246:H65P	H	-	2	0	HOXA1	27101863	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	1.515000	0.35845	1.998000	0.58463	0.247000	0.18012	CAC		0.637	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1		
CHN2	1124	hgsc.bcm.edu	37	7	29539490	29539490	+	Silent	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:29539490A>G	ENST00000222792.6	+	9	1277	c.747A>G	c.(745-747)ggA>ggG	p.G249G	CHN2_ENST00000409041.4_Silent_p.G113G|CHN2_ENST00000495789.2_Silent_p.G262G|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000539406.1_Silent_p.G324G|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Silent_p.G234G|CHN2_ENST00000424025.2_Silent_p.G68G|CHN2_ENST00000539389.1_Silent_p.G105G|CHN2_ENST00000439711.2_Silent_p.G113G	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	249					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CAGACTGTGGATTGAACGTAC	0.423																																					Ovarian(1;44 48 13232 18918 31480)												0			7											120.0	109.0	112.0					7																	29539490		2203	4300	6503	29506015	SO:0001819	synonymous_variant	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.747A>G	7.37:g.29539490A>G			29506015	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	ENST00000222792.6	37	CCDS5420.1																																																																																				0.423	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067	
SEPT7	989	hgsc.bcm.edu	37	7	35942737	35942737	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:35942737G>T	ENST00000435235.1	+	12	1459	c.1027G>T	c.(1027-1029)Gaa>Taa	p.E343*	SEPT7_ENST00000350320.6_Nonsense_Mutation_p.E395*|SEPT7_ENST00000494488.2_3'UTR|SEPT7_ENST00000399034.2_Nonsense_Mutation_p.E397*|SEPT7_ENST00000432293.2_Nonsense_Mutation_p.E47*|SEPT7_ENST00000399035.3_Nonsense_Mutation_p.E395*			Q16181	SEPT7_HUMAN	septin 7	396					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						ACAGCACAAAGAATTGGAGGA	0.378																																																	0			7											42.0	43.0	42.0					7																	35942737		1838	4083	5921	35909262	SO:0001587	stop_gained	989			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.1027G>T	7.37:g.35942737G>T	ENSP00000413507:p.Glu343*		35909262	Q52M76|Q6NX50	Nonsense_Mutation	SNP	ENST00000435235.1	37		.	.	.	.	.	.	.	.	.	.	G	38	6.659335	0.97743	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000432293	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	18.9185	0.92516	0.0:0.0:1.0:0.0	.	.	.	.	X	343;397;395;395;341;343;47	.	ENSP00000344868:E395X	E	+	1	0	SEPT7	35909262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.813000	0.86123	2.538000	0.85594	0.609000	0.83330	GAA		0.378	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788	
SFRP4	6424	hgsc.bcm.edu	37	7	37951856	37951856	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:37951856T>C	ENST00000436072.2	-	4	1033	c.656A>G	c.(655-657)gAt>gGt	p.D219G	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	219	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTCTTTTACATCCACCACCGT	0.433																																																	0			7											191.0	172.0	179.0					7																	37951856		2203	4300	6503	37918381	SO:0001583	missense	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.656A>G	7.37:g.37951856T>C	ENSP00000410715:p.Asp219Gly		37918381	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622309	0.87460	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.22743	1.94;1.94	5.9	5.9	0.94986	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.106321	0.64402	D	0.000004	T	0.34019	0.0883	L	0.43152	1.355	0.51482	D	0.999926	P	0.52316	0.952	P	0.55824	0.785	T	0.03043	-1.1079	10	0.72032	D	0.01	.	15.3178	0.74095	0.0:0.0:0.0:1.0	.	219	Q6FHJ7	SFRP4_HUMAN	G	219;216;85	ENSP00000410715:D219G;ENSP00000402262:D85G	ENSP00000410715:D219G	D	-	2	0	SFRP4	37918381	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.376000	0.79658	2.248000	0.74166	0.528000	0.53228	GAT		0.433	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014	
MYO1G	64005	hgsc.bcm.edu	37	7	45003711	45003711	+	Silent	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:45003711C>T	ENST00000258787.7	-	20	2818	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	894	Myosin tail. {ECO:0000255}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGTAGAGGTGCTGGTCTGTGA	0.652																																																	0			7											95.0	86.0	89.0					7																	45003711		2202	4300	6502	44970236	SO:0001819	synonymous_variant	64005			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2682G>A	7.37:g.45003711C>T			44970236	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	CCDS34629.1																																																																																				0.652	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2		
GNAI1	2770	hgsc.bcm.edu	37	7	79833136	79833136	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:79833136A>G	ENST00000351004.3	+	5	951	c.578A>G	c.(577-579)gAt>gGt	p.D193G	GNAI1_ENST00000457358.2_Missense_Mutation_p.D141G	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	193					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						ACTTTCAAAGATCTTCATTTT	0.289																																																	0			7											49.0	47.0	48.0					7																	79833136		2199	4295	6494	79671072	SO:0001583	missense	2770			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.578A>G	7.37:g.79833136A>G	ENSP00000343027:p.Asp193Gly		79671072	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.197905	0.58126	.	.	ENSG00000127955	ENST00000351004;ENST00000418742;ENST00000457358	T;D;T	0.87412	-0.38;-2.25;-0.38	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	N	0.11284	0.12	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.70908	-0.4744	9	.	.	.	.	16.2652	0.82574	1.0:0.0:0.0:0.0	.	193	P63096	GNAI1_HUMAN	G	193;141;141	ENSP00000343027:D193G;ENSP00000389435:D141G;ENSP00000410572:D141G	.	D	+	2	0	GNAI1	79671072	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.241000	0.73720	0.528000	0.53228	GAT		0.289	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069	
TRRAP	8295	hgsc.bcm.edu	37	7	98493411	98493411	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:98493411A>G	ENST00000359863.4	+	7	684	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E	TRRAP_ENST00000355540.3_Missense_Mutation_p.K159E|TRRAP_ENST00000446306.3_Missense_Mutation_p.K159E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	159					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGATTTTGTGAAACAGATTTA	0.274																																																	0			7											82.0	79.0	80.0					7																	98493411		2199	4298	6497	98331347	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.475A>G	7.37:g.98493411A>G	ENSP00000352925:p.Lys159Glu		98331347	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091903	0.76756	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.63913	3.6;-0.07	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.68317	2.08	0.80722	D	1	B;B	0.16603	0.018;0.01	B;B	0.20767	0.031;0.014	T	0.57435	-0.7812	10	0.21540	T	0.41	.	16.1358	0.81487	1.0:0.0:0.0:0.0	.	159;159	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	E	159	ENSP00000352925:K159E;ENSP00000347733:K159E	ENSP00000347733:K159E	K	+	1	0	TRRAP	98331347	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.014000	0.93635	2.261000	0.74972	0.460000	0.39030	AAA		0.274	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
CUX1	1523	hgsc.bcm.edu	37	7	101837149	101837149	+	Silent	SNP	G	G	A	rs11540899|rs2230104	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:101837149G>A	ENST00000292535.7	+	13	1142	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.P363P|CUX1_ENST00000425244.2_Silent_p.P333P|CUX1_ENST00000556210.1_Silent_p.P368P|CUX1_ENST00000292538.4_Silent_p.P379P|CUX1_ENST00000393824.3_Silent_p.P340P|CUX1_ENST00000437600.4_Silent_p.P377P|CUX1_ENST00000360264.3_Silent_p.P379P|CUX1_ENST00000549414.2_Silent_p.P368P|CUX1_ENST00000546411.2_Silent_p.P368P|CUX1_ENST00000550008.2_Silent_p.P368P|SNORA48_ENST00000517015.1_RNA	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	368					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGTTTGCACCGTCCGAGGGCG	0.527													G|||	1495	0.298522	0.3646	0.2738	5008	,	,		19932	0.0675		0.3857	False		,,,				2504	0.3753																0			7						G	,,,,,,	1667,2739	507.1+/-366.6	331,1005,867	82.0	69.0	73.0		1137,1089,999,1020,1137,1131,1104	-8.6	0.0	7	dbSNP_120	73	3374,5226	499.2+/-374.9	652,2070,1578	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	,,,,,,	983,3075,2445	AA,AG,GG		39.2326,37.8348,38.759	,,,,,,	379/1517,363/663,333/633,340/640,379/679,377/677,368/1506	101837149	5041,7965	2203	4300	6503	101623869	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1104G>A	7.37:g.101837149G>A			101623869	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	CCDS5721.1																																																																																				0.527	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
TNPO3	23534	hgsc.bcm.edu	37	7	128612495	128612495	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:128612495T>C	ENST00000265388.5	-	19	2558	c.2415A>G	c.(2413-2415)acA>acG	p.T805T	TNPO3_ENST00000471234.1_Silent_p.T741T|TNPO3_ENST00000471166.1_Silent_p.T839T|TNPO3_ENST00000482320.1_Silent_p.T739T|RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000393245.1_Silent_p.T839T			Q9Y5L0	TNPO3_HUMAN	transportin 3	805					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGGCTACCCCTGTATGAATGA	0.433																																					Pancreas(147;583 2585 39696 52331)												0			7											97.0	91.0	93.0					7																	128612495		2203	4300	6503	128399731	SO:0001819	synonymous_variant	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2415A>G	7.37:g.128612495T>C			128399731	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	CCDS5809.1																																																																																				0.433	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470	
BRAF	673	hgsc.bcm.edu	37	7	140453133	140453133	+	Missense_Mutation	SNP	T	T	C	rs397516897|rs121913226|rs397507484		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:140453133T>C	ENST00000288602.6	-	15	1862	c.1802A>G	c.(1801-1803)aAa>aGa	p.K601R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in CRC). {ECO:0000269|PubMed:12198537}.|K -> Q (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.K601I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CCATCGAGATTTCACTGTAGC	0.373		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	7	Complex - deletion inframe(5)|Substitution - Missense(1)|Deletion - In frame(1)	thyroid(4)|skin(2)|ovary(1)	7											112.0	104.0	107.0					7																	140453133		2203	4300	6503	140099602	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1802A>G	7.37:g.140453133T>C	ENSP00000288602:p.Lys601Arg		140099602	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	31|31	5.099050|5.099050	0.94197|0.94197	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.82803|.	-1.65|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57504|0.57504	0.2058|0.2058	L|L	0.33710|0.33710	1.025|1.025	0.80722|0.80722	D|D	1|1	P|.	0.35307|.	0.494|.	B|.	0.42593|.	0.392|.	T|T	0.54084|0.54084	-0.8346|-0.8346	10|5	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	601|.	P15056|.	BRAF_HUMAN|.	R|D	601|209	ENSP00000288602:K601R|.	ENSP00000288602:K601R|.	K|N	-|-	2|1	0|0	BRAF|BRAF	140099602|140099602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	AAA|AAT		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
ASB10	136371	hgsc.bcm.edu	37	7	150878272	150878272	+	Silent	SNP	G	G	A	rs371957185		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr7:150878272G>A	ENST00000420175.2	-	3	882	c.858C>T	c.(856-858)gaC>gaT	p.D286D	ASB10_ENST00000434669.1_Silent_p.D331D|ASB10_ENST00000422024.1_Silent_p.D331D|ASB10_ENST00000377867.3_Silent_p.D271D|ASB10_ENST00000275838.1_Silent_p.D286D			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	286					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCATCAGCGTCTGCTCCAG	0.672																																																	0			7						G	,,	2,4400	2.1+/-5.4	0,2,2199	29.0	29.0	29.0		858,858,813	-8.1	0.0	7		29	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	ASB10	NM_001142459.1,NM_001142460.1,NM_080871.3	,,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	,,	286/468,286/430,271/453	150878272	2,12994	2201	4297	6498	150509205	SO:0001819	synonymous_variant	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.858C>T	7.37:g.150878272G>A			150509205	A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	CCDS47750.2																																																																																				0.672	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871	
CHD6	84181	hgsc.bcm.edu	37	20	40083356	40083356	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr20:40083356T>C	ENST00000373233.3	-	20	3207	c.3030A>G	c.(3028-3030)ggA>ggG	p.G1010G	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1010					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGTTCTGTTTCCTGAAGCCA	0.358																																																	0			20											122.0	118.0	119.0					20																	40083356		2203	4300	6503	39516770	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3030A>G	20.37:g.40083356T>C			39516770	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.358	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
ZFP64	55734	hgsc.bcm.edu	37	20	50769674	50769674	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr20:50769674A>G	ENST00000216923.4	-	6	1406	c.1057T>C	c.(1057-1059)Tcc>Ccc	p.S353P	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.S299P|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.S351P	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCTTGCTGGAGCAGGAGTAG	0.607																																																	0			20											118.0	109.0	112.0					20																	50769674		2203	4300	6503	50203081	SO:0001583	missense	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1057T>C	20.37:g.50769674A>G	ENSP00000216923:p.Ser353Pro		50203081	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463391	0.43736	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.09163	3.02;3.04;3.01	5.79	-1.29	0.09288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.319355	0.27202	N	0.020455	T	0.08403	0.0209	L	0.45228	1.405	0.43756	D	0.996269	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.10450	0.005;0.001;0.001	T	0.13548	-1.0505	10	0.66056	D	0.02	-18.4798	7.0797	0.25223	0.5896:0.2214:0.189:0.0	.	299;351;353	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	P	353;299;351;195;506	ENSP00000216923:S353P;ENSP00000344615:S299P;ENSP00000360570:S351P	ENSP00000216923:S353P	S	-	1	0	ZFP64	50203081	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	1.220000	0.32491	-0.109000	0.12044	0.496000	0.49642	TCC		0.607	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	
FAM209B	388799	hgsc.bcm.edu	37	20	55108569	55108569	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr20:55108569A>G	ENST00000371325.1	+	1	268	c.172A>G	c.(172-174)Agc>Ggc	p.S58G		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	58						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CTGGCTTGGGAGCAAATGGCT	0.498																																																	0			20											156.0	134.0	142.0					20																	55108569		2203	4300	6503	54541976	SO:0001583	missense	388799			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 107"""	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.172A>G	20.37:g.55108569A>G	ENSP00000360376:p.Ser58Gly		54541976	Q3KRB5	Missense_Mutation	SNP	ENST00000371325.1	37	CCDS33494.1	.	.	.	.	.	.	.	.	.	.	A	6.714	0.500344	0.12762	.	.	ENSG00000213714	ENST00000371325	T	0.10573	2.86	2.8	2.8	0.32819	.	0.323633	0.26213	N	0.025676	T	0.11879	0.0289	L	0.52573	1.65	0.23943	N	0.996395	P	0.39044	0.656	B	0.42138	0.377	T	0.09143	-1.0688	10	0.49607	T	0.09	-19.0876	7.3067	0.26451	1.0:0.0:0.0:0.0	.	58	Q5JX69	CT107_HUMAN	G	58	ENSP00000360376:S58G	ENSP00000360376:S58G	S	+	1	0	C20orf107	54541976	0.982000	0.34865	0.996000	0.52242	0.283000	0.27025	3.360000	0.52299	1.274000	0.44362	0.323000	0.21402	AGC		0.498	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1		
LAMA5	3911	hgsc.bcm.edu	37	20	60893967	60893967	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr20:60893967T>C	ENST00000252999.3	-	52	7040	c.6974A>G	c.(6973-6975)gAg>gGg	p.E2325G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2325	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCCGCATCTCCCAGAGCAG	0.692																																																	0			20											9.0	11.0	10.0					20																	60893967		2146	4238	6384	60327362	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6974A>G	20.37:g.60893967T>C	ENSP00000252999:p.Glu2325Gly		60327362	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	16.42	3.118620	0.56505	.	.	ENSG00000130702	ENST00000252999	T	0.12984	2.63	4.25	3.11	0.35812	Laminin I (1);	0.170522	0.50627	U	0.000103	T	0.17789	0.0427	L	0.54323	1.7	0.80722	D	1	P	0.42078	0.77	P	0.44921	0.464	T	0.01021	-1.1478	10	0.72032	D	0.01	.	10.3799	0.44106	0.0:0.0:0.1654:0.8346	.	2325	O15230	LAMA5_HUMAN	G	2325	ENSP00000252999:E2325G	ENSP00000252999:E2325G	E	-	2	0	LAMA5	60327362	1.000000	0.71417	0.725000	0.30721	0.115000	0.19883	3.830000	0.55768	0.491000	0.27793	0.515000	0.50301	GAG		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
OGFR	11054	hgsc.bcm.edu	37	20	61444845	61444845	+	Silent	SNP	G	G	A	rs112106909		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr20:61444845G>A	ENST00000290291.6	+	7	1903	c.1878G>A	c.(1876-1878)ccG>ccA	p.P626P	OGFR_ENST00000370461.1_Silent_p.P574P	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	626	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)	p.P626P(2)		endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GCCCCCGCCCGGCAGGACCTG	0.746																																																	2	Substitution - coding silent(2)	prostate(2)	20											5.0	8.0	7.0					20																	61444845		1854	3783	5637	60915290	SO:0001819	synonymous_variant	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1878G>A	20.37:g.61444845G>A			60915290	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	CCDS13504.1																																																																																				0.746	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
SLC7A4	6545	hgsc.bcm.edu	37	22	21384276	21384276	+	Silent	SNP	G	G	A	rs559055973		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr22:21384276G>A	ENST00000382932.2	-	3	1414	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	SLC7A4_ENST00000403586.1_Silent_p.H449H|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	449					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGACGGAGGCGTGTACAGTGC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		17842	0.0		0.001	False		,,,				2504	0.0																0			22											34.0	32.0	33.0					22																	21384276		2203	4300	6503	19714276	SO:0001819	synonymous_variant	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1347C>T	22.37:g.21384276G>A			19714276	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	ENST00000382932.2	37	CCDS33608.1																																																																																				0.662	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173	
PISD	23761	hgsc.bcm.edu	37	22	32017125	32017125	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr22:32017125G>A	ENST00000439502.2	-	6	924	c.701C>T	c.(700-702)gCg>gTg	p.A234V	PISD_ENST00000478893.1_5'UTR|PISD_ENST00000266095.5_Missense_Mutation_p.A200V|PISD_ENST00000397500.1_Missense_Mutation_p.A200V|PISD_ENST00000336566.4_Missense_Mutation_p.A233V|PISD_ENST00000382151.2_Missense_Mutation_p.A200V			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	234					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GTCACACGACGCGGCTGTGGA	0.612											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0			22											98.0	92.0	94.0					22																	32017125		2203	4300	6503	30347125	SO:0001583	missense	23761				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.701C>T	22.37:g.32017125G>A	ENSP00000391739:p.Ala234Val	829	30347125	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.26|15.26	2.782269|2.782269	0.49891|0.49891	.|.	.|.	ENSG00000241878|ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000439502;ENST00000336566;ENST00000451635;ENST00000422020|ENST00000435900	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	1.031700|.	0.07641|.	N|.	0.930296|.	T|T	0.31670|0.31670	0.0804|0.0804	N|N	0.12637|0.12637	0.245|0.245	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.15719|.	0.0;0.002;0.007;0.014|.	B;B;B;B|.	0.15484|.	0.003;0.013;0.004;0.004|.	T|T	0.21793|0.21793	-1.0235|-1.0235	9|5	0.15952|.	T|.	0.53|.	-14.5644|-14.5644	15.5397|15.5397	0.76031|0.76031	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	224;234;200;200|.	B1AJZ0;Q9UG56;B1AKM6;Q9UG56-2|.	.;PISD_HUMAN;.;.|.	V|C	200;200;200;234;233;200;200|225	.|.	ENSP00000266095:A200V|.	A|R	-|-	2|1	0|0	PISD|PISD	30347125|30347125	0.434000|0.434000	0.25570|0.25570	0.012000|0.012000	0.15200|0.15200	0.107000|0.107000	0.19398|0.19398	3.735000|3.735000	0.55044|0.55044	2.330000|2.330000	0.79161|0.79161	0.563000|0.563000	0.77884|0.77884	GCG|CGT		0.612	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4		
PSMB11	122706	hgsc.bcm.edu	37	14	23512050	23512050	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr14:23512050C>T	ENST00000408907.2	+	1	675	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CGCCCTGGCTCGCTGCGCCGT	0.622																																																	0			14											40.0	41.0	41.0					14																	23512050		2124	4240	6364	22581890	SO:0001583	missense	122706				CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.616C>T	14.37:g.23512050C>T	ENSP00000386212:p.Arg206Cys		22581890		Missense_Mutation	SNP	ENST00000408907.2	37	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	C	9.587	1.125031	0.20959	.	.	ENSG00000222028	ENST00000408907	T	0.23754	1.89	5.02	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.80028	2.48	0.52099	D	0.999941	P	0.39737	0.685	B	0.36092	0.217	T	0.08046	-1.0741	10	0.49607	T	0.09	-10.6153	7.4524	0.27246	0.1651:0.7488:0.0:0.0861	.	206	A5LHX3	PSB11_HUMAN	C	206	ENSP00000386212:R206C	ENSP00000386212:R206C	R	+	1	0	PSMB11	22581890	0.751000	0.28327	0.855000	0.33649	0.029000	0.11900	1.566000	0.36396	1.126000	0.42016	0.655000	0.94253	CGC		0.622	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780	
HECTD1	25831	hgsc.bcm.edu	37	14	31675095	31675095	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr14:31675095T>C	ENST00000399332.1	-	2	536	c.48A>G	c.(46-48)ggA>ggG	p.G16G	HECTD1_ENST00000556474.1_5'UTR|HECTD1_ENST00000553700.1_Silent_p.G16G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	16					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CATCTCCCTGTCCCATCTGTA	0.418																																																	0			14											173.0	161.0	165.0					14																	31675095		1959	4150	6109	30744846	SO:0001819	synonymous_variant	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.48A>G	14.37:g.31675095T>C			30744846	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	CCDS41939.1																																																																																				0.418	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
DDX24	57062	hgsc.bcm.edu	37	14	94517583	94517583	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr14:94517583T>C	ENST00000330836.5	-	9	2665	c.2534A>G	c.(2533-2535)aAg>aGg	p.K845R	DDX24_ENST00000555054.1_Missense_Mutation_p.K802R|DDX24_ENST00000544005.1_Missense_Mutation_p.K595R|DDX24_ENST00000553400.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	845	Poly-Lys.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTGTGGCTCCTTCGGCTTCTT	0.512											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			14											84.0	88.0	87.0					14																	94517583		2203	4300	6503	93587336	SO:0001583	missense	57062			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2534A>G	14.37:g.94517583T>C	ENSP00000328690:p.Lys845Arg	1306	93587336	E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237635	0.39598	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054	T;T;T	0.03607	3.96;3.87;3.96	4.6	2.11	0.27256	.	0.950586	0.08827	N	0.887933	T	0.04003	0.0112	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42982	-0.9419	10	0.46703	T	0.11	-0.1316	5.4214	0.16402	0.0:0.1008:0.1737:0.7255	.	845	Q9GZR7	DDX24_HUMAN	R	845;595;790;471;802	ENSP00000328690:K845R;ENSP00000440623:K595R;ENSP00000452145:K802R	ENSP00000328690:K845R	K	-	2	0	DDX24	93587336	0.005000	0.15991	0.000000	0.03702	0.165000	0.22458	1.211000	0.32382	0.330000	0.23485	0.459000	0.35465	AAG		0.512	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414	
AHNAK2	113146	hgsc.bcm.edu	37	14	105420119	105420119	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr14:105420119C>T	ENST00000333244.5	-	7	1788	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	557						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGTCCTTCCTCTCCATCTCCT	0.557																																																	0			14											301.0	314.0	310.0					14																	105420119		2124	4246	6370	104491164	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1669G>A	14.37:g.105420119C>T	ENSP00000353114:p.Glu557Lys		104491164	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.843403	0.32606	.	.	ENSG00000185567	ENST00000333244	T	0.02606	4.23	4.81	-1.37	0.09056	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.48127	-0.9062	9	0.07325	T	0.83	.	9.4135	0.38507	0.0:0.3332:0.4909:0.1759	.	557	Q8IVF2	AHNK2_HUMAN	K	557	ENSP00000353114:E557K	ENSP00000353114:E557K	E	-	1	0	AHNAK2	104491164	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-0.892000	0.04131	-0.060000	0.13132	-1.259000	0.01468	GAG		0.557	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
SBNO2	22904	hgsc.bcm.edu	37	19	1119071	1119071	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:1119071C>T	ENST00000361757.3	-	14	1703	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	SBNO2_ENST00000438103.2_Missense_Mutation_p.R432H|SBNO2_ENST00000587024.1_Missense_Mutation_p.R489H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	489					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGATGCGGAAGGTGAC	0.667																																																	0			19											32.0	42.0	38.0					19																	1119071		2195	4286	6481	1070071	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1466G>A	19.37:g.1119071C>T	ENSP00000354733:p.Arg489His		1070071	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374978	0.82573	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.89	2.85	0.33270	.	0.122741	0.56097	N	0.000034	T	0.70029	0.3177	M	0.64260	1.97	0.42720	D	0.993676	P;D;D	0.89917	0.902;1.0;1.0	P;D;D	0.97110	0.608;1.0;0.999	T	0.72054	-0.4406	9	0.72032	D	0.01	-31.8968	10.6025	0.45375	0.0:0.9041:0.0:0.0959	.	489;489;432	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	H	489;432;513	.	ENSP00000250872:R513H	R	-	2	0	SBNO2	1070071	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.707000	0.68370	0.972000	0.38314	0.462000	0.41574	CGC		0.667	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963	
ABHD17A	81926	hgsc.bcm.edu	37	19	1881395	1881395	+	Silent	SNP	T	T	C	rs199929215	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:1881395T>C	ENST00000292577.7	-	2	604	c.171A>G	c.(169-171)agA>agG	p.R57R	ABHD17A_ENST00000250974.9_Silent_p.R57R|ABHD17A_ENST00000590661.1_Silent_p.R57R	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	57						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.R57R(1)									CCGAGGAGGCTCTCAGGGTCC	0.726																																																	1	Substitution - coding silent(1)	prostate(1)	19											7.0	10.0	9.0					19																	1881395		1880	3957	5837	1832395	SO:0001819	synonymous_variant	81926			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.171A>G	19.37:g.1881395T>C			1832395	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																				0.726	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213	
KDM4B	23030	hgsc.bcm.edu	37	19	5144411	5144411	+	Silent	SNP	T	T	C	rs10408767|rs57489512		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:5144411T>C	ENST00000159111.4	+	20	3107	c.2889T>C	c.(2887-2889)ccT>ccC	p.P963P	KDM4B_ENST00000536461.1_Silent_p.P997P	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	963	Tudor 1.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACCTGTACCCTGAGAGCATCA	0.642																																																	0			19											20.0	16.0	17.0					19																	5144411		2173	4262	6435	5095411	SO:0001819	synonymous_variant	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2889T>C	19.37:g.5144411T>C			5095411	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	CCDS12138.1																																																																																				0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015	
EMR1	2015	hgsc.bcm.edu	37	19	6906479	6906479	+	Missense_Mutation	SNP	G	G	A	rs151096072		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:6906479G>A	ENST00000312053.4	+	9	1022	c.985G>A	c.(985-987)Gat>Aat	p.D329N	EMR1_ENST00000250572.8_Missense_Mutation_p.D329N|EMR1_ENST00000381404.4_Missense_Mutation_p.D277N|EMR1_ENST00000381407.5_Missense_Mutation_p.D188N|EMR1_ENST00000450315.3_Missense_Mutation_p.D152N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	329	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D329Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTGATACCCGATAATAAGCA	0.393																																																	1	Substitution - Missense(1)	lung(1)	19						G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	140.0	134.0	136.0		985	-4.2	0.0	19	dbSNP_134	136	0,8600		0,0,4300	no	missense	EMR1	NM_001974.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	329/887	6906479	1,13005	2203	4300	6503	6857479	SO:0001583	missense	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.985G>A	19.37:g.6906479G>A	ENSP00000311545:p.Asp329Asn		6857479	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	1.146	-0.648008	0.03506	2.27E-4	0.0	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77750	-1.09;-1.11;-1.12;0.05;0.39	2.98	-4.22	0.03800	.	.	.	.	.	T	0.48786	0.1519	N	0.04203	-0.255	0.09310	N	1	B;B;B;B;B	0.16396	0.017;0.008;0.011;0.017;0.006	B;B;B;B;B	0.11329	0.005;0.004;0.002;0.006;0.001	T	0.34279	-0.9835	9	0.17369	T	0.5	.	6.4188	0.21732	0.2627:0.1813:0.556:0.0	.	152;188;329;277;329	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	N	329;329;277;329;188;152	ENSP00000311545:D329N;ENSP00000370811:D277N;ENSP00000250572:D329N;ENSP00000370814:D188N;ENSP00000405974:D152N	ENSP00000250572:D329N	D	+	1	0	EMR1	6857479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.398000	0.02509	-1.026000	0.03330	-1.267000	0.01435	GAT		0.393	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
MCOLN1	57192	hgsc.bcm.edu	37	19	7593142	7593142	+	Splice_Site	SNP	C	C	T	rs199588225		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:7593142C>T	ENST00000264079.6	+	7	1001	c.876C>T	c.(874-876)caC>caT	p.H292H		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	292					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTTCCAGCACGGTGAGCCCC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16300	0.001		0.0	False		,,,				2504	0.0																0			19											71.0	64.0	67.0					19																	7593142		2203	4300	6503	7499142	SO:0001630	splice_region_variant	57192			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.877+1C>T	19.37:g.7593142C>T			7499142	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	ENST00000264079.6	37	CCDS12180.1																																																																																				0.642	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533	Silent
COL5A3	50509	hgsc.bcm.edu	37	19	10081347	10081347	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:10081347G>A	ENST00000264828.3	-	54	3972	c.3887C>T	c.(3886-3888)cCg>cTg	p.P1296L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1296	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGCTCCAGGCGGACCCTGGAG	0.617																																																	0			19											9.0	11.0	10.0					19																	10081347		2168	4263	6431	9942347	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3887C>T	19.37:g.10081347G>A	ENSP00000264828:p.Pro1296Leu		9942347	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797707	0.31777	.	.	ENSG00000080573	ENST00000264828	D	0.96685	-4.09	3.28	3.28	0.37604	.	0.075383	0.53938	U	0.000050	D	0.95974	0.8689	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93644	0.6967	10	0.27082	T	0.32	.	10.3456	0.43903	0.0:0.0:1.0:0.0	.	1296	P25940	CO5A3_HUMAN	L	1296	ENSP00000264828:P1296L	ENSP00000264828:P1296L	P	-	2	0	COL5A3	9942347	0.998000	0.40836	0.824000	0.32777	0.203000	0.24098	3.173000	0.50839	2.126000	0.65437	0.486000	0.48141	CCG		0.617	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
LYL1	4066	hgsc.bcm.edu	37	19	13211527	13211527	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:13211527A>G	ENST00000264824.4	-	3	731	c.371T>C	c.(370-372)tTc>tCc	p.F124S		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	124					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			GCTGCTAGGGAAGATGCTAAA	0.577			T	TRB@	T-ALL																																			Dom	yes		19	19p13.2-p13.1	4066	lymphoblastic leukemia derived sequence 1		L	0			19											196.0	182.0	187.0					19																	13211527		2203	4300	6503	13072527	SO:0001583	missense	4066				CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"""Basic helix-loop-helix proteins"""	6734	protein-coding gene	gene with protein product		151440	"""lymphoblastic leukemia derived sequence 1"""			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.371T>C	19.37:g.13211527A>G	ENSP00000264824:p.Phe124Ser		13072527	O76102	Missense_Mutation	SNP	ENST00000264824.4	37	CCDS12292.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728609	0.69074	.	.	ENSG00000104903	ENST00000264824	D	0.97906	-4.6	4.17	4.17	0.49024	.	0.097598	0.43579	D	0.000549	D	0.96144	0.8743	L	0.58101	1.795	0.30401	N	0.780008	P	0.48911	0.917	B	0.44315	0.446	D	0.94383	0.7606	10	0.51188	T	0.08	-6.8045	11.0377	0.47811	1.0:0.0:0.0:0.0	.	124	P12980	LYL1_HUMAN	S	124	ENSP00000264824:F124S	ENSP00000264824:F124S	F	-	2	0	LYL1	13072527	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	2.713000	0.47194	1.653000	0.50694	0.459000	0.35465	TTC		0.577	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452827.1	NM_005583	
NOTCH3	4854	hgsc.bcm.edu	37	19	15272410	15272410	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:15272410T>C	ENST00000263388.2	-	33	6104	c.6029A>G	c.(6028-6030)gAc>gGc	p.D2010G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2010					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTGGGCTACGTCCCGCGGCAG	0.682																																																	0			19											28.0	27.0	28.0					19																	15272410		2202	4298	6500	15133410	SO:0001583	missense	4855			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6029A>G	19.37:g.15272410T>C	ENSP00000263388:p.Asp2010Gly		15133410	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631081	0.67015	.	.	ENSG00000074181	ENST00000263388	T	0.57107	0.42	3.92	3.92	0.45320	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.66934	0.2840	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70382	-0.4887	9	0.87932	D	0	.	12.2215	0.54437	0.0:0.0:0.0:1.0	.	2010	Q9UM47	NOTC3_HUMAN	G	2010	ENSP00000263388:D2010G	ENSP00000263388:D2010G	D	-	2	0	NOTCH3	15133410	1.000000	0.71417	0.713000	0.30519	0.729000	0.41735	7.836000	0.86788	1.790000	0.52503	0.528000	0.53228	GAC		0.682	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
ZNF208	7757	hgsc.bcm.edu	37	19	22155783	22155783	+	Missense_Mutation	SNP	C	C	T	rs199604702		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:22155783C>T	ENST00000397126.4	-	4	2201	c.2053G>A	c.(2053-2055)Gta>Ata	p.V685I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	685					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTATGAATTACCTTATGTTTA	0.383																																																	0			19											37.0	38.0	37.0					19																	22155783		1986	4182	6168	21947623	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2053G>A	19.37:g.22155783C>T	ENSP00000380315:p.Val685Ile		21947623		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	4.480	0.089023	0.08583	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.17054	2.3	2.43	-4.86	0.03132	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.24701	0.055	T	0.29852	-0.9998	8	0.42905	T	0.14	.	9.3378	0.38060	0.0:0.3337:0.0:0.6663	.	585	O43345	ZN208_HUMAN	I	685;585	ENSP00000380315:V685I	ENSP00000380315:V685I	V	-	1	0	ZNF208	21947623	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-6.732000	0.00055	-1.081000	0.03105	-1.169000	0.01745	GTA		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF676	163223	hgsc.bcm.edu	37	19	22363610	22363610	+	Silent	SNP	A	A	G	rs201622264	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:22363610A>G	ENST00000397121.2	-	3	1226	c.909T>C	c.(907-909)caT>caC	p.H303H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCTCCAGTATGAATTCTCT	0.443																																																	0			19											81.0	83.0	83.0					19																	22363610		2112	4258	6370	22155450	SO:0001819	synonymous_variant	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.909T>C	19.37:g.22363610A>G			22155450	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.443	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF676	163223	hgsc.bcm.edu	37	19	22363615	22363615	+	Missense_Mutation	SNP	T	T	C	rs76328545	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:22363615T>C	ENST00000397121.2	-	3	1221	c.904A>G	c.(904-906)Att>Gtt	p.I302V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCAGTATGAATTCTCTTATGT	0.428																																																	0			19											85.0	88.0	87.0					19																	22363615		2125	4266	6391	22155455	SO:0001583	missense	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.904A>G	19.37:g.22363615T>C	ENSP00000380310:p.Ile302Val		22155455	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.149580	0.01714	.	.	ENSG00000196109	ENST00000397121	T	0.00986	5.47	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.05534	-0.03	0.20196	N	0.999929	B	0.15930	0.015	B	0.18871	0.023	T	0.51004	-0.8760	9	0.62326	D	0.03	.	0.401	0.00426	0.2032:0.1668:0.2049:0.4252	.	302	Q8N7Q3	ZN676_HUMAN	V	302	ENSP00000380310:I302V	ENSP00000380310:I302V	I	-	1	0	ZNF676	22155455	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.149000	0.10204	-3.301000	0.00192	-3.318000	0.00044	ATT		0.428	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF99	7652	hgsc.bcm.edu	37	19	22951126	22951126	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:22951126C>A	ENST00000596209.1	-	3	297	c.207G>T	c.(205-207)gaG>gaT	p.E69D	ZNF99_ENST00000397104.3_Missense_Mutation_p.E90D	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGTTACCATCTCATGTCTCT	0.393																																																	0			19											59.0	62.0	61.0					19																	22951126		2171	4292	6463	22742966	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.207G>T	19.37:g.22951126C>A	ENSP00000472969:p.Glu69Asp		22742966	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	0.972	-0.699753	0.03279	.	.	ENSG00000213973	ENST00000397104	T	0.06371	3.31	0.195	0.195	0.15151	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	L	0.41236	1.265	0.09310	N	1	B	0.21606	0.058	B	0.21151	0.033	T	0.46512	-0.9186	8	0.13853	T	0.58	.	.	.	.	.	90	A8MXY4	ZNF99_HUMAN	D	90	ENSP00000380293:E90D	ENSP00000380293:E90D	E	-	3	2	ZNF99	22742966	0.009000	0.17119	0.185000	0.23176	0.181000	0.23173	1.131000	0.31406	0.300000	0.22699	0.306000	0.20318	GAG		0.393	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ATP4A	495	hgsc.bcm.edu	37	19	36051418	36051418	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:36051418C>T	ENST00000262623.3	-	6	662	c.634G>A	c.(634-636)Gcc>Acc	p.A212T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	212					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGGATGTCGGCGGGCACTCTG	0.627																																																	0			19											59.0	54.0	56.0					19																	36051418		2203	4300	6503	40743258	SO:0001583	missense	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.634G>A	19.37:g.36051418C>T	ENSP00000262623:p.Ala212Thr		40743258	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	c	18.94	3.729544	0.69074	.	.	ENSG00000105675	ENST00000262623	D	0.94184	-3.37	4.16	3.12	0.35913	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000005	D	0.97402	0.9150	H	0.96916	3.905	0.58432	D	0.99999	D	0.89917	1.0	D	0.81914	0.995	D	0.97089	0.9789	10	0.87932	D	0	.	9.8583	0.41098	0.0:0.8975:0.0:0.1025	.	212	P20648	ATP4A_HUMAN	T	212	ENSP00000262623:A212T	ENSP00000262623:A212T	A	-	1	0	ATP4A	40743258	1.000000	0.71417	0.306000	0.25113	0.536000	0.34869	5.844000	0.69430	1.103000	0.41568	-0.348000	0.07805	GCC		0.627	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
ZNF607	84775	hgsc.bcm.edu	37	19	38190768	38190768	+	Silent	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:38190768G>A	ENST00000355202.4	-	5	859	c.264C>T	c.(262-264)agC>agT	p.S88S	CTD-2528L19.4_ENST00000586606.2_Silent_p.S88S|ZNF607_ENST00000395835.3_Silent_p.S87S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTTTCCCATCGCTGATTATTT	0.313																																																	0			19											53.0	56.0	55.0					19																	38190768		2203	4299	6502	42882608	SO:0001819	synonymous_variant	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.264C>T	19.37:g.38190768G>A			42882608	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	CCDS33006.1																																																																																				0.313	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
RYR1	6261	hgsc.bcm.edu	37	19	38983253	38983253	+	Missense_Mutation	SNP	G	G	A	rs143681974		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:38983253G>A	ENST00000359596.3	+	38	6251	c.6251G>A	c.(6250-6252)cGg>cAg	p.R2084Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R2084Q|RYR1_ENST00000355481.4_Missense_Mutation_p.R2084Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2084	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R2084Q(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGGAGGAGCGGTCAGCAGAG	0.627																																																	1	Substitution - Missense(1)	prostate(1)	19						G	GLN/ARG,GLN/ARG	2,4402	4.2+/-10.8	0,2,2200	44.0	40.0	41.0		6251,6251	-6.2	0.0	19	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	43,43	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	2084/5039,2084/5034	38983253	2,13002	2202	4300	6502	43675093	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6251G>A	19.37:g.38983253G>A	ENSP00000352608:p.Arg2084Gln		43675093	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	8.553	0.875924	0.17395	4.54E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72615	-0.67;-0.67;-0.67	4.52	-6.16	0.02098	.	0.262866	0.28921	U	0.013715	T	0.24160	0.0585	N	0.03608	-0.345	0.09310	N	1	B;P	0.37548	0.0;0.599	B;B	0.11329	0.0;0.006	T	0.55842	-0.8077	10	0.14252	T	0.57	.	0.5766	0.00704	0.2381:0.2735:0.1265:0.3618	.	2084;2084	P21817-2;P21817	.;RYR1_HUMAN	Q	2084	ENSP00000352608:R2084Q;ENSP00000347667:R2084Q;ENSP00000354254:R2084Q	ENSP00000347667:R2084Q	R	+	2	0	RYR1	43675093	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.297000	0.08276	-1.248000	0.02503	-1.713000	0.00713	CGG		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
GMFG	9535	hgsc.bcm.edu	37	19	39820258	39820258	+	Missense_Mutation	SNP	A	A	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:39820258A>C	ENST00000597595.1	-	5	417	c.209T>G	c.(208-210)gTt>gGt	p.V70G	GMFG_ENST00000602185.1_Missense_Mutation_p.V21G|GMFG_ENST00000601387.1_Missense_Mutation_p.V29G|GMFG_ENST00000598034.1_Missense_Mutation_p.V70G|GMFG_ENST00000600322.1_Missense_Mutation_p.V37G|GMFG_ENST00000253054.8_Missense_Mutation_p.V37G|GMFG_ENST00000595636.1_Intron|GMFG_ENST00000594700.1_Intron	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	70	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTAGCTGTAAACCACGAACCT	0.517																																																	0			19											177.0	122.0	141.0					19																	39820258		2203	4300	6503	44512098	SO:0001583	missense	9535			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.209T>G	19.37:g.39820258A>C	ENSP00000472249:p.Val70Gly		44512098	Q6IB37	Missense_Mutation	SNP	ENST00000597595.1	37	CCDS12532.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154118	0.78114	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.16	4.16	0.48862	Actin-binding, cofilin/tropomyosin type (3);	0.282664	0.25436	N	0.030698	T	0.80460	0.4627	M	0.88704	2.975	0.80722	D	1	D;D	0.71674	0.99;0.998	D;D	0.80764	0.982;0.994	D	0.83814	0.0243	9	0.87932	D	0	-16.0296	11.4702	0.50264	1.0:0.0:0.0:0.0	.	70;70	O60234;Q6IB37	GMFG_HUMAN;.	G	70	.	ENSP00000253054:V70G	V	-	2	0	GMFG	44512098	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.389000	0.66255	1.862000	0.54008	0.459000	0.35465	GTT		0.517	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1		
CYP2A7	1549	hgsc.bcm.edu	37	19	41386148	41386148	+	Splice_Site	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:41386148G>A	ENST00000301146.4	-	4	1036	c.495C>T	c.(493-495)ggC>ggT	p.G165G	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Splice_Site_p.G114G	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	165						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGATATTGGCGCCTGCGGGTG	0.542																																																	0			19											107.0	97.0	100.0					19																	41386148		2203	4300	6503	46077988	SO:0001630	splice_region_variant	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.494-1C>T	19.37:g.41386148G>A			46077988	Q13121	Silent	SNP	ENST00000301146.4	37	CCDS12569.1																																																																																				0.542	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589	Silent
PSG11	5680	hgsc.bcm.edu	37	19	43519316	43519316	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:43519316A>G	ENST00000401740.1	-	4	1019	c.916T>C	c.(916-918)Tca>Cca	p.S306P	PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000403486.1_Missense_Mutation_p.S184P|PSG11_ENST00000320078.7_Missense_Mutation_p.S306P|PSG11_ENST00000306322.7_Missense_Mutation_p.S184P			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	315	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCAGTGGCTGAGTTACGAGCA	0.453																																																	0			19											148.0	142.0	144.0					19																	43519316		2199	4297	6496	48211156	SO:0001583	missense	5680			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.916T>C	19.37:g.43519316A>G	ENSP00000384995:p.Ser306Pro		48211156	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	a	5.154	0.213959	0.09810	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	0.976	-0.977	0.10282	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21145	0.0509	L	0.41824	1.3	0.09310	N	1	B;B	0.32620	0.006;0.378	B;P	0.55260	0.054;0.772	T	0.51301	-0.8723	9	0.51188	T	0.08	.	3.291	0.06949	0.6621:0.0:0.3379:0.0	.	184;306	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	P	306;184;184;306	ENSP00000319140:S306P;ENSP00000385427:S184P;ENSP00000304913:S184P;ENSP00000384995:S306P	ENSP00000304913:S184P	S	-	1	0	PSG11	48211156	0.002000	0.14202	0.006000	0.13384	0.065000	0.16274	-0.588000	0.05774	-0.457000	0.07033	0.155000	0.16302	TCA		0.453	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785	
TULP2	7288	hgsc.bcm.edu	37	19	49385383	49385383	+	Silent	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:49385383C>T	ENST00000221399.3	-	12	1497	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	451					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CCTTGTCCCACGACGGGGTTT	0.517																																																	0			19											131.0	105.0	114.0					19																	49385383		2203	4300	6503	54077195	SO:0001819	synonymous_variant	7288			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1353G>A	19.37:g.49385383C>T			54077195	Q8TC50	Silent	SNP	ENST00000221399.3	37	CCDS12739.1																																																																																				0.517	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323	
NUCB1	4924	hgsc.bcm.edu	37	19	49425587	49425587	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:49425587T>C	ENST00000405315.4	+	13	1626	c.1292T>C	c.(1291-1293)gTc>gCc	p.V431A	NUCB1_ENST00000263273.5_Missense_Mutation_p.V431A|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_Missense_Mutation_p.V431A	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	431						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GATGTACCTGTCCCAGCTCCA	0.612																																																	0			19											121.0	114.0	116.0					19																	49425587		2203	4300	6503	54117399	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1292T>C	19.37:g.49425587T>C	ENSP00000385923:p.Val431Ala		54117399	B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	t	11.19	1.565779	0.27915	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273	T;T;T	0.18502	2.21;2.21;2.21	3.5	2.48	0.30137	.	0.490245	0.17947	N	0.156652	T	0.07503	0.0189	N	0.14661	0.345	0.28829	N	0.897252	B	0.06786	0.001	B	0.04013	0.001	T	0.36553	-0.9743	10	0.09843	T	0.71	.	5.5411	0.17038	0.0:0.1276:0.0:0.8724	.	431	Q02818	NUCB1_HUMAN	A	431	ENSP00000385923:V431A;ENSP00000385211:V431A;ENSP00000263273:V431A	ENSP00000263273:V431A	V	+	2	0	NUCB1	54117399	0.998000	0.40836	0.939000	0.37840	0.325000	0.28411	1.078000	0.30754	0.720000	0.32209	0.255000	0.18592	GTC		0.612	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184	
KCNA7	3743	hgsc.bcm.edu	37	19	49575304	49575304	+	Missense_Mutation	SNP	G	G	A	rs77059600	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:49575304G>A	ENST00000221444.1	-	1	894	c.539C>T	c.(538-540)gCa>gTa	p.A180V		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	180				A -> V (in Ref. 3; AAX11186). {ECO:0000305}.	protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GGCTGCGGCTGCAGCAGCAAG	0.687													A|||	709	0.141573	0.2837	0.1398	5008	,	,		8486	0.0486		0.0885	False		,,,				2504	0.1012				Colon(74;686 1235 3793 23366 48562)												0			19						A	VAL/ALA	883,3133		82,719,1207	7.0	9.0	8.0		539	1.8	0.0	19	dbSNP_131	8	658,7272		33,592,3340	no	missense	KCNA7	NM_031886.2	64	115,1311,4547	AA,AG,GG		8.2976,21.9871,12.8997	benign	180/457	49575304	1541,10405	2008	3965	5973	54267116	SO:0001583	missense	3743			AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.539C>T	19.37:g.49575304G>A	ENSP00000221444:p.Ala180Val		54267116	A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	CCDS12755.1	322	0.14743589743589744	158	0.32113821138211385	62	0.1712707182320442	34	0.05944055944055944	68	0.08970976253298153	A	9.871	1.198847	0.22121	0.219871	0.082976	ENSG00000104848	ENST00000221444	D	0.97620	-4.46	4.28	1.79	0.24919	.	3.155100	0.01167	N	0.006767	T	0.00012	0.0000	N	0.03224	-0.385	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.55503	-0.8131	9	0.27785	T	0.31	.	4.3707	0.11246	0.4332:0.237:0.3298:0.0	.	180	Q96RP8	KCNA7_HUMAN	V	180	ENSP00000221444:A180V	ENSP00000221444:A180V	A	-	2	0	KCNA7	54267116	0.034000	0.19679	0.006000	0.13384	0.002000	0.02628	-0.536000	0.06135	0.175000	0.19841	-0.504000	0.04507	GCA		0.687	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886	
MED25	81857	hgsc.bcm.edu	37	19	50333403	50333403	+	Silent	SNP	C	C	T	rs111621037		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:50333403C>T	ENST00000312865.6	+	7	800	c.747C>T	c.(745-747)ccC>ccT	p.P249P	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	249	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCCTGCCTCCCGCCGCACCCT	0.667																																					GBM(51;894 1657 37868)												0			19											36.0	45.0	42.0					19																	50333403		2179	4273	6452	55025215	SO:0001819	synonymous_variant	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.747C>T	19.37:g.50333403C>T			55025215	A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Silent	SNP	ENST00000312865.6	37	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	C	3.583	-0.085295	0.07097	.	.	ENSG00000104973	ENST00000544580	.	.	.	4.98	-6.65	0.01795	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	T	0.56147	-0.8027	5	0.59425	D	0.04	.	2.3928	0.04382	0.3428:0.3804:0.1531:0.1238	.	.	.	.	C	249	.	ENSP00000444765:R249C	R	+	1	0	MED25	55025215	0.253000	0.23982	0.013000	0.15412	0.485000	0.33311	-0.636000	0.05465	-1.722000	0.01377	-0.940000	0.02684	CGC		0.667	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973	
KLK8	11202	hgsc.bcm.edu	37	19	51503938	51503938	+	Intron	SNP	G	G	A	rs111771104	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:51503938G>A	ENST00000600767.1	-	4	560				KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|KLK9_ENST00000376832.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000391806.2_Missense_Mutation_p.A36V|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000598195.1_5'Flank|KLK8_ENST00000291726.7_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8						cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CAAGTTCTCCGCATACAACTT	0.567													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.0																0			19						G	,VAL/ALA,,	4,4402	4.2+/-10.8	0,4,2199	71.0	72.0	72.0		,107,,	-3.0	0.0	19	dbSNP_132	72	0,8600		0,0,4300	yes	intron,missense,intron,intron	KLK8	NM_007196.2,NM_144505.1,NM_144506.1,NM_144507.1	,64,,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,,,	,36/306,,	51503938	4,13002	2203	4300	6503	56195750	SO:0001627	intron_variant	284366			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.71-99C>T	19.37:g.51503938G>A			56195750	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	ENST00000600767.1	37	CCDS12813.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.69	2.612036	0.46631	9.08E-4	0.0	ENSG00000129455	ENST00000391806	D	0.88431	-2.38	3.74	-2.97	0.05530	.	.	.	.	.	T	0.76364	0.3977	N	0.19112	0.55	0.09310	N	0.999999	B	0.14012	0.009	B	0.10450	0.005	T	0.61412	-0.7068	9	0.44086	T	0.13	.	4.3826	0.11302	0.5207:0.1812:0.2981:0.0	.	36	O60259-2	.	V	36	ENSP00000375682:A36V	ENSP00000375682:A36V	A	-	2	0	KLK8	56195750	0.000000	0.05858	0.000000	0.03702	0.216000	0.24613	0.102000	0.15272	-0.356000	0.08187	0.561000	0.74099	GCG		0.567	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196	
ZNF677	342926	hgsc.bcm.edu	37	19	53741069	53741069	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:53741069G>A	ENST00000598513.1	-	5	1061	c.911C>T	c.(910-912)tCg>tTg	p.S304L	ZNF677_ENST00000333952.4_Missense_Mutation_p.S304L|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGTGAGGTTCGAACACTGGTT	0.403																																																	0			19											121.0	111.0	114.0					19																	53741069		2203	4300	6503	58432881	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.911C>T	19.37:g.53741069G>A	ENSP00000469391:p.Ser304Leu		58432881		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183588	0.38609	.	.	ENSG00000197928	ENST00000333952	T	0.36520	1.25	2.2	-0.0421	0.13865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29692	N	0.011454	T	0.26846	0.0657	M	0.69523	2.12	0.09310	N	1	B	0.29432	0.244	B	0.18561	0.022	T	0.25572	-1.0128	10	0.59425	D	0.04	.	1.0549	0.01588	0.1474:0.2289:0.3907:0.233	.	304	Q86XU0	ZN677_HUMAN	L	304	ENSP00000334394:S304L	ENSP00000334394:S304L	S	-	2	0	ZNF677	58432881	0.000000	0.05858	0.000000	0.03702	0.928000	0.56348	0.583000	0.23849	0.056000	0.16144	0.650000	0.86243	TCG		0.403	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
TARM1	441864	hgsc.bcm.edu	37	19	54584591	54584591	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:54584591A>G	ENST00000432826.1	-	1	43	c.19T>C	c.(19-21)Tcc>Ccc	p.S7P		NM_001135686.1	NP_001129158.2	B6A8C7	TARM1_HUMAN	T cell-interacting, activating receptor on myeloid cells 1	7						integral component of membrane (GO:0016021)				endometrium(1)|stomach(2)	3						CAGAGGAGGGAAAGCAGCTTA	0.522																																																	0			19											188.0	159.0	168.0					19																	54584591		692	1591	2283	59276403	SO:0001583	missense	0				CCDS46173.1	19q13.42	2013-01-29			ENSG00000248385	ENSG00000248385		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	37250	protein-coding gene	gene with protein product							Standard	XM_005258952		Approved		uc010yei.1	B6A8C7		ENST00000432826.1:c.19T>C	19.37:g.54584591A>G	ENSP00000439454:p.Ser7Pro		59276403	B4DWY4	Missense_Mutation	SNP	ENST00000432826.1	37	CCDS46173.1	.	.	.	.	.	.	.	.	.	.	.	5.827	0.336902	0.11013	.	.	ENSG00000248385	ENST00000432826	T	0.00490	7.03	2.15	-0.422	0.12329	.	.	.	.	.	T	0.00328	0.0010	L	0.41356	1.27	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40776	-0.9545	9	0.62326	D	0.03	.	4.4104	0.11431	0.6295:0.0:0.3705:0.0	.	7	B6A8C7	TARM1_HUMAN	P	7	ENSP00000439454:S7P	ENSP00000439454:S7P	S	-	1	0	TARM1	59276403	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-1.575000	0.02131	-0.061000	0.13110	0.418000	0.28097	TCC		0.522	TARM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465679.1	NM_001135686	
ZNF324B	388569	hgsc.bcm.edu	37	19	58967438	58967438	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:58967438G>A	ENST00000336614.4	+	4	1234	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R376H|ZNF324B_ENST00000391696.1_Missense_Mutation_p.R366H	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGTGTGGCCGCCGCTTCTGC	0.662																																																	0			19											22.0	22.0	22.0					19																	58967438		2199	4291	6490	63659250	SO:0001583	missense	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1127G>A	19.37:g.58967438G>A	ENSP00000337473:p.Arg376His		63659250	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.361007	0.61403	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.03920	3.76;3.76;3.76	2.66	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42053	D	0.000775	T	0.11196	0.0273	L	0.48218	1.51	0.09310	N	0.999999	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.914	T	0.04333	-1.0959	10	0.87932	D	0	.	5.1088	0.14798	0.2867:0.0:0.7133:0.0	.	376;366	Q6AW86;C9JTQ8	Z324B_HUMAN;.	H	376;376;366	ENSP00000337473:R376H;ENSP00000438930:R376H;ENSP00000375578:R366H	ENSP00000337473:R376H	R	+	2	0	ZNF324B	63659250	0.019000	0.18553	0.952000	0.39060	0.996000	0.88848	0.344000	0.19962	0.646000	0.30693	0.591000	0.81541	CGC		0.662	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395	
ARHGEF10	9639	hgsc.bcm.edu	37	8	1905021	1905021	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr8:1905021T>C	ENST00000398564.1	+	29	3702	c.3702T>C	c.(3700-3702)gcT>gcC	p.A1234A	ARHGEF10_ENST00000262112.6_Silent_p.A1205A|ARHGEF10_ENST00000520359.1_Silent_p.A1171A|ARHGEF10_ENST00000518288.1_Silent_p.A1233A|ARHGEF10_ENST00000349830.3_Silent_p.A1209A|ARHGEF10_ENST00000521927.1_3'UTR			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1234					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACAGCCTGGCTCCTGGCCCCG	0.587																																																	0			8											64.0	61.0	62.0					8																	1905021		2203	4300	6503	1892428	SO:0001819	synonymous_variant	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3702T>C	8.37:g.1905021T>C			1892428	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37																																																																																					0.587	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
LZTS1	11178	hgsc.bcm.edu	37	8	20107850	20107850	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr8:20107850A>G	ENST00000381569.1	-	4	1531	c.1174T>C	c.(1174-1176)Tcc>Ccc	p.S392P	LZTS1_ENST00000265801.6_Missense_Mutation_p.S392P|LZTS1_ENST00000522290.1_Missense_Mutation_p.S392P			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	392					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TTCAGGAGGGAGATCTCGCCT	0.607																																																	0			8											40.0	42.0	42.0					8																	20107850		2203	4300	6503	20152130	SO:0001583	missense	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1174T>C	8.37:g.20107850A>G	ENSP00000370981:p.Ser392Pro		20152130	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	a	22.2	4.253544	0.80135	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.61392	0.11;0.11;0.11	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81195	-0.1043	10	0.62326	D	0.03	-18.3908	13.3793	0.60759	1.0:0.0:0.0:0.0	.	392;392	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	P	392	ENSP00000370981:S392P;ENSP00000265801:S392P;ENSP00000429263:S392P	ENSP00000265801:S392P	S	-	1	0	LZTS1	20152130	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.336000	0.79245	1.842000	0.53543	0.454000	0.30748	TCC		0.607	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020	
ENTPD4	9583	hgsc.bcm.edu	37	8	23290531	23290531	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr8:23290531G>A	ENST00000358689.4	-	13	1994	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	ENTPD4_ENST00000417069.2_Missense_Mutation_p.R579C|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000521321.1_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	587					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CTGTGGATGCGCCGCAGCCGC	0.667																																																	0			8											41.0	43.0	43.0					8																	23290531		2203	4300	6503	23346476	SO:0001583	missense	9583			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1759C>T	8.37:g.23290531G>A	ENSP00000351520:p.Arg587Cys		23346476	D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267606	0.95399	.	.	ENSG00000197217	ENST00000358689;ENST00000417069	T;T	0.17054	2.3;2.3	5.58	5.58	0.84498	.	0.152106	0.64402	D	0.000009	T	0.43743	0.1261	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.977	T	0.31475	-0.9942	10	0.87932	D	0	-13.2634	18.1425	0.89644	0.0:0.0:1.0:0.0	.	579;587	Q9Y227-2;Q9Y227	.;ENTP4_HUMAN	C	587;579	ENSP00000351520:R587C;ENSP00000408573:R579C	ENSP00000351520:R587C	R	-	1	0	ENTPD4	23346476	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.903000	0.87398	2.631000	0.89168	0.563000	0.77884	CGC		0.667	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901	
STAU2	27067	hgsc.bcm.edu	37	8	74464439	74464439	+	Silent	SNP	T	T	C	rs148124805		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr8:74464439T>C	ENST00000521451.1	-	8	1054	c.678A>G	c.(676-678)caA>caG	p.Q226Q	STAU2_ENST00000524300.1_Silent_p.Q446Q|STAU2_ENST00000522695.1_Silent_p.Q414Q|STAU2_ENST00000521210.1_Silent_p.Q342Q|STAU2_ENST00000519961.1_Silent_p.Q446Q|STAU2_ENST00000523558.1_Silent_p.Q274Q|STAU2_ENST00000522509.1_Silent_p.Q414Q|STAU2_ENST00000355780.5_Silent_p.Q414Q|STAU2_ENST00000517542.1_Silent_p.Q408Q|STAU2_ENST00000521727.1_Silent_p.Q426Q			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	446	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AGCTTGAAGGTTGGTTCATAT	0.428																																																	0			8						T	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	145.0	141.0	142.0		1338,1242,1026,822,1242,1224,1242	1.0	1.0	8	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	STAU2	NM_001164380.1,NM_001164381.1,NM_001164382.1,NM_001164383.1,NM_001164384.1,NM_001164385.1,NM_014393.2	,,,,,,	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	,,,,,,	446/571,414/539,342/505,274/399,414/480,408/474,414/480	74464439	2,13004	2203	4300	6503	74626993	SO:0001819	synonymous_variant	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.678A>G	8.37:g.74464439T>C			74626993	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP	ENST00000521451.1	37																																																																																					0.428	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380	
PSKH2	85481	hgsc.bcm.edu	37	8	87076699	87076699	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr8:87076699C>T	ENST00000276616.2	-	2	421	c.347G>A	c.(346-348)aGc>aAc	p.S116N	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> I (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.				ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S116I(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTAACGATGGCTAACCCGCCG	0.502																																																	1	Substitution - Missense(1)	lung(1)	8											92.0	79.0	83.0					8																	87076699		2203	4300	6503	87145815	SO:0001583	missense	85481			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.347G>A	8.37:g.87076699C>T	ENSP00000276616:p.Ser116Asn		87145815	A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223143	0.39300	.	.	ENSG00000147613	ENST00000276616	T	0.38240	1.15	5.59	3.78	0.43462	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.18087	0.0434	N	0.03294	-0.36	0.30624	N	0.758162	B	0.14012	0.009	B	0.14023	0.01	T	0.12116	-1.0560	9	0.40728	T	0.16	.	10.7921	0.46438	0.0:0.8544:0.0:0.1456	.	116	Q96QS6	KPSH2_HUMAN	N	116	ENSP00000276616:S116N	ENSP00000276616:S116N	S	-	2	0	PSKH2	87145815	0.983000	0.35010	0.030000	0.17652	0.822000	0.46500	4.605000	0.61119	0.681000	0.31386	0.655000	0.94253	AGC		0.502	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126	
RGS22	26166	hgsc.bcm.edu	37	8	101076146	101076146	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr8:101076146C>G	ENST00000360863.6	-	8	1044	c.850G>C	c.(850-852)Gac>Cac	p.D284H	RGS22_ENST00000523437.1_Missense_Mutation_p.D272H|RGS22_ENST00000523287.1_Missense_Mutation_p.D103H	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	284					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAAGGAGTGTCTTGTAGAGAT	0.373																																																	0			8											88.0	90.0	89.0					8																	101076146		1832	4075	5907	101145322	SO:0001583	missense	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.850G>C	8.37:g.101076146C>G	ENSP00000354109:p.Asp284His		101145322	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056275	0.76074	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.44482	0.95;0.92;0.95	5.86	5.86	0.93980	.	0.368863	0.27886	N	0.017441	T	0.65893	0.2735	M	0.66939	2.045	0.39401	D	0.966598	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.988;0.988;0.995	T	0.66779	-0.5837	10	0.87932	D	0	.	20.1735	0.98170	0.0:1.0:0.0:0.0	.	272;284;103	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	H	284;272;103;272	ENSP00000354109:D284H;ENSP00000429382:D103H;ENSP00000428212:D272H	ENSP00000354109:D284H	D	-	1	0	RGS22	101145322	1.000000	0.71417	0.703000	0.30354	0.722000	0.41435	4.957000	0.63652	2.937000	0.99478	0.650000	0.86243	GAC		0.373	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
TRPS1	7227	hgsc.bcm.edu	37	8	116616445	116616445	+	Missense_Mutation	SNP	A	A	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr8:116616445A>T	ENST00000220888.5	-	3	1871	c.1712T>A	c.(1711-1713)cTt>cAt	p.L571H	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.L575H|TRPS1_ENST00000395715.3_Missense_Mutation_p.L584H|TRPS1_ENST00000519674.1_Missense_Mutation_p.L571H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	571					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGGCTGCAAAGTCCTCTGGG	0.438									Langer-Giedion syndrome																																								0			8											71.0	71.0	71.0					8																	116616445		1903	4121	6024	116685620	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1712T>A	8.37:g.116616445A>T	ENSP00000220888:p.Leu571His		116685620	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	A	16.70	3.196179	0.58126	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.87	5.87	0.94306	.	0.193906	0.45606	D	0.000345	T	0.20088	0.0483	L	0.27053	0.805	0.53688	D	0.999977	P;B;P	0.45715	0.461;0.331;0.865	B;B;B	0.42555	0.303;0.159;0.391	T	0.01294	-1.1393	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	575;571;584	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	584;571;575;571	ENSP00000379065:L584H;ENSP00000220888:L571H;ENSP00000428680:L575H;ENSP00000429174:L571H	ENSP00000220888:L571H	L	-	2	0	TRPS1	116685620	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.976000	0.76135	2.371000	0.80710	0.533000	0.62120	CTT		0.438	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
EXT1	2131	hgsc.bcm.edu	37	8	118812009	118812009	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr8:118812009A>G	ENST00000378204.2	-	11	2989	c.2183T>C	c.(2182-2184)cTc>cCc	p.L728P		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	728					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTCTTTAAAGAGGACGGGGTC	0.537			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0			8											86.0	83.0	84.0					8																	118812009		2203	4300	6503	118881190	SO:0001583	missense	2131	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2183T>C	8.37:g.118812009A>G	ENSP00000367446:p.Leu728Pro		118881190	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638668	0.87760	.	.	ENSG00000182197	ENST00000378204	T	0.80653	-1.4	5.96	5.96	0.96718	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.91901	0.7436	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93497	0.6841	10	0.87932	D	0	-11.7954	16.4484	0.83959	1.0:0.0:0.0:0.0	.	728	Q16394	EXT1_HUMAN	P	728	ENSP00000367446:L728P	ENSP00000367446:L728P	L	-	2	0	EXT1	118881190	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.278000	0.95766	2.285000	0.76669	0.533000	0.62120	CTC		0.537	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127	
IL12RB2	3595	hgsc.bcm.edu	37	1	67795384	67795384	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:67795384G>A	ENST00000262345.1	+	6	1419	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	IL12RB2_ENST00000544434.1_Missense_Mutation_p.R260Q|IL12RB2_ENST00000541374.1_Missense_Mutation_p.R260Q|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R260Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	260	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTCAGATATCGGCCCAGTAAC	0.423																																																	0			1											119.0	114.0	116.0					1																	67795384		2203	4300	6503	67567972	SO:0001583	missense	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.779G>A	1.37:g.67795384G>A	ENSP00000262345:p.Arg260Gln		67567972	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189792	0.38707	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.2	4.28	0.50868	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.156761	0.53938	N	0.000047	T	0.40719	0.1128	L	0.51914	1.62	0.24901	N	0.992105	P;D;P;P	0.61697	0.915;0.99;0.885;0.887	B;P;B;B	0.50825	0.329;0.651;0.424;0.194	T	0.19844	-1.0293	10	0.29301	T	0.29	-20.6601	9.1957	0.37226	0.1031:0.0:0.8969:0.0	.	260;260;260;260	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	Q	260	ENSP00000262345:R260Q;ENSP00000360039:R260Q;ENSP00000445276:R260Q;ENSP00000442443:R260Q	ENSP00000262345:R260Q	R	+	2	0	IL12RB2	67567972	0.996000	0.38824	0.474000	0.27266	0.146000	0.21551	3.377000	0.52425	1.298000	0.44778	0.561000	0.74099	CGG		0.423	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
LRRC7	57554	hgsc.bcm.edu	37	1	70257750	70257750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:70257750C>T	ENST00000035383.5	+	2	244	c.214C>T	c.(214-216)Cga>Tga	p.R72*	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000310961.5_Nonsense_Mutation_p.R77*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	72						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R72G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCAAGCTCTACGAAAACTAAG	0.294																																																	1	Substitution - Missense(1)	ovary(1)	1											95.0	103.0	100.0					1																	70257750		2202	4295	6497	70030338	SO:0001587	stop_gained	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.214C>T	1.37:g.70257750C>T	ENSP00000035383:p.Arg72*		70030338	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592986	0.97688	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.68	2.7	0.31948	.	0.148908	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3006	0.60324	0.4547:0.5453:0.0:0.0	.	.	.	.	X	77;110;72;72	.	ENSP00000035383:R72X	R	+	1	2	LRRC7	70030338	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	2.305000	0.43664	0.277000	0.22141	0.561000	0.74099	CGA		0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
NRAS	4893	hgsc.bcm.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																														Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	610	Substitution - Missense(609)|Complex(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	1											180.0	156.0	164.0					1																	115256530		2203	4300	6503	115058053	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys		115058053	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
SYCP1	6847	hgsc.bcm.edu	37	1	115398116	115398116	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:115398116G>A	ENST00000369522.3	+	2	271	c.31G>A	c.(31-33)Gta>Ata	p.V11I	SYCP1_ENST00000369518.1_Missense_Mutation_p.V11I	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	11					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCATTGTTCGTACCACCGAG	0.483																																																	0			1											91.0	90.0	90.0					1																	115398116		2203	4300	6503	115199639	SO:0001583	missense	6847			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.31G>A	1.37:g.115398116G>A	ENSP00000358535:p.Val11Ile		115199639	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	6.040	0.375815	0.11409	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.54866	1.12;0.55;1.12	5.16	-1.7	0.08159	.	0.149164	0.44097	N	0.000484	T	0.14013	0.0339	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.14504	-1.0470	10	0.51188	T	0.08	-0.6391	2.1983	0.03916	0.2641:0.3133:0.3156:0.1071	.	11;11	B7ZLS9;Q15431	.;SYCP1_HUMAN	I	11	ENSP00000358535:V11I;ENSP00000410011:V11I;ENSP00000358531:V11I	ENSP00000358531:V11I	V	+	1	0	SYCP1	115199639	0.588000	0.26799	0.005000	0.12908	0.006000	0.05464	0.235000	0.17948	-0.285000	0.09089	-1.036000	0.02392	GTA		0.483	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
UBAP2L	9898	hgsc.bcm.edu	37	1	154229840	154229840	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:154229840T>C	ENST00000361546.2	+	19	2414	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	UBAP2L_ENST00000343815.6_Missense_Mutation_p.L791P|UBAP2L_ENST00000428931.1_Missense_Mutation_p.L791P|UBAP2L_ENST00000271877.7_Missense_Mutation_p.L802P|AL590431.1_ENST00000517008.1_RNA|SNORA58_ENST00000364259.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	791					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCCCAACCTCCCTCCTGGG	0.468																																																	0			1											78.0	82.0	81.0					1																	154229840		2203	4300	6503	152496464	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2372T>C	1.37:g.154229840T>C	ENSP00000355343:p.Leu791Pro		152496464	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438082	0.62955	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998	D;D;D;D;D	0.87578	0.993;0.998;0.998;0.998;0.995	T	0.67948	-0.5538	10	0.87932	D	0	-10.2648	15.0308	0.71705	0.0:0.0:0.0:1.0	.	705;802;784;791;791	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	P	791;791;287;287;802;791	ENSP00000345308:L791P;ENSP00000389445:L791P;ENSP00000271877:L802P;ENSP00000355343:L791P	ENSP00000271877:L802P	L	+	2	0	UBAP2L	152496464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.499000	0.81566	2.330000	0.79161	0.533000	0.62120	CTC		0.468	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
TMEM79	84283	hgsc.bcm.edu	37	1	156261301	156261301	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:156261301A>G	ENST00000405535.2	+	4	1268	c.1097A>G	c.(1096-1098)gAg>gGg	p.E366G	TMEM79_ENST00000357501.2_Silent_p.G127G|TMEM79_ENST00000295694.5_Missense_Mutation_p.E366G|TMEM79_ENST00000495881.1_3'UTR|C1orf85_ENST00000482579.1_5'Flank	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	366					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GTGGAGCCGGAGCGCATGCTC	0.677																																																	0			1											114.0	110.0	111.0					1																	156261301		2203	4300	6503	154527925	SO:0001583	missense	84283			BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.1097A>G	1.37:g.156261301A>G	ENSP00000384748:p.Glu366Gly		154527925	B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402841	0.62288	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.52526	0.66;0.66	5.7	5.7	0.88788	.	0.270193	0.37857	N	0.001904	T	0.32704	0.0838	L	0.34521	1.04	0.80722	D	1	P	0.51537	0.946	P	0.46253	0.509	T	0.26950	-1.0088	10	0.66056	D	0.02	-22.1261	14.8012	0.69916	1.0:0.0:0.0:0.0	.	366	Q9BSE2	TMM79_HUMAN	G	366	ENSP00000295694:E366G;ENSP00000384748:E366G	ENSP00000295694:E366G	E	+	2	0	TMEM79	154527925	1.000000	0.71417	0.996000	0.52242	0.033000	0.12548	3.231000	0.51294	2.170000	0.68504	0.533000	0.62120	GAG		0.677	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323	
EPRS	2058	hgsc.bcm.edu	37	1	220156677	220156677	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:220156677A>G	ENST00000366923.3	-	22	3423	c.3154T>C	c.(3154-3156)Tgg>Cgg	p.W1052R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1052	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GCATAGGCCCAGGGACGAAGA	0.378																																																	0			1											61.0	65.0	64.0					1																	220156677		2203	4300	6503	218223300	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3154T>C	1.37:g.220156677A>G	ENSP00000355890:p.Trp1052Arg		218223300	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528778	0.85706	.	.	ENSG00000136628	ENST00000366923	T	0.28666	1.6	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.61515	-0.7047	10	0.87932	D	0	-8.7816	15.5395	0.76031	1.0:0.0:0.0:0.0	.	1052	P07814	SYEP_HUMAN	R	1052	ENSP00000355890:W1052R	ENSP00000355890:W1052R	W	-	1	0	EPRS	218223300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.065000	0.93941	2.089000	0.63090	0.533000	0.62120	TGG		0.378	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
TMEM63A	9725	hgsc.bcm.edu	37	1	226046987	226046987	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:226046987A>G	ENST00000366835.3	-	15	1556	c.1286T>C	c.(1285-1287)cTc>cCc	p.L429P	TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	429					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCCCAGGAAGAGGGTGAAGTT	0.547																																																	0			1											111.0	102.0	105.0					1																	226046987		2203	4300	6503	224113610	SO:0001583	missense	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1286T>C	1.37:g.226046987A>G	ENSP00000355800:p.Leu429Pro		224113610	Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	ENST00000366835.3	37	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472745	0.84640	.	.	ENSG00000196187	ENST00000366835	T	0.35973	1.28	5.07	5.07	0.68467	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.66771	0.2823	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74648	-0.3595	10	0.62326	D	0.03	-40.5488	14.8201	0.70065	1.0:0.0:0.0:0.0	.	429	O94886	TM63A_HUMAN	P	429	ENSP00000355800:L429P	ENSP00000355800:L429P	L	-	2	0	TMEM63A	224113610	1.000000	0.71417	0.970000	0.41538	0.985000	0.73830	9.115000	0.94336	1.921000	0.55644	0.459000	0.35465	CTC		0.547	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698	
RYR2	6262	hgsc.bcm.edu	37	1	237754050	237754050	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:237754050G>A	ENST00000366574.2	+	31	4235	c.3918G>A	c.(3916-3918)atG>atA	p.M1306I	RYR2_ENST00000360064.6_Missense_Mutation_p.M1304I|RYR2_ENST00000542537.1_Missense_Mutation_p.M1290I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1306	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCTGAGCATGCCGATCGAGT	0.512																																																	0			1											207.0	197.0	200.0					1																	237754050		1963	4163	6126	235820673	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3918G>A	1.37:g.237754050G>A	ENSP00000355533:p.Met1306Ile		235820673	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	17.12	3.308760	0.60305	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96745	-4.11;-4.09;-4.1	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	D	0.95465	0.8527	M	0.66939	2.045	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.92722	0.6192	10	0.72032	D	0.01	.	18.915	0.92501	0.0:0.0:1.0:0.0	.	1306	Q92736	RYR2_HUMAN	I	1306;1304;1290	ENSP00000355533:M1306I;ENSP00000353174:M1304I;ENSP00000443798:M1290I	ENSP00000353174:M1304I	M	+	3	0	RYR2	235820673	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	9.597000	0.98273	2.777000	0.95525	0.655000	0.94253	ATG		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
TSPAN4	7106	hgsc.bcm.edu	37	11	864489	864489	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr11:864489T>C	ENST00000397404.1	+	5	567	c.308T>C	c.(307-309)cTc>cCc	p.L103P	TSPAN4_ENST00000397408.1_Missense_Mutation_p.L103P|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L122P|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L103P|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L103P|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L103P|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L39P|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L103P|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L103P|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L39P	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	103					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCGCCATCCTCTTCTTCGCC	0.662																																																	0			11											102.0	92.0	95.0					11																	864489		2203	4299	6502	854489	SO:0001583	missense	7106			AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.308T>C	11.37:g.864489T>C	ENSP00000380553:p.Leu103Pro		854489	Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840571	0.51057	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	D;D;D;D;D;D;D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	2.9	2.9	0.33743	.	0.085006	0.48767	D	0.000170	D	0.91496	0.7315	H	0.97158	3.95	0.80722	D	1	D	0.61080	0.989	D	0.71184	0.972	D	0.91698	0.5371	10	0.72032	D	0.01	.	8.9426	0.35740	0.0:0.0:0.0:1.0	.	103	O14817	TSN4_HUMAN	P	103;103;39;103;39;103;103;39;103;39;103;122;103	ENSP00000380552:L103P;ENSP00000380558:L103P;ENSP00000380551:L39P;ENSP00000380555:L103P;ENSP00000433980:L39P;ENSP00000380554:L103P;ENSP00000386513:L103P;ENSP00000431943:L39P;ENSP00000380553:L103P;ENSP00000434818:L39P;ENSP00000324304:L103P;ENSP00000386899:L122P;ENSP00000436260:L103P	ENSP00000324304:L103P	L	+	2	0	TSPAN4	854489	1.000000	0.71417	0.942000	0.38095	0.388000	0.30384	5.650000	0.67944	1.202000	0.43218	0.260000	0.18958	CTC		0.662	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2		
TH	7054	hgsc.bcm.edu	37	11	2190907	2190907	+	Silent	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr11:2190907C>T	ENST00000381178.1	-	3	396	c.378G>A	c.(376-378)gcG>gcA	p.A126A	TH_ENST00000381175.1_Silent_p.A122A|TH_ENST00000352909.3_Silent_p.A95A|TH_ENST00000333684.5_Silent_p.A99A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	126					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCGGGACAGCGCCGAGGGCT	0.657																																																	0			11											63.0	70.0	67.0					11																	2190907		2202	4299	6501	2147483	SO:0001819	synonymous_variant	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.378G>A	11.37:g.2190907C>T			2147483	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	CCDS7731.1																																																																																				0.657	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360	
MRVI1	10335	hgsc.bcm.edu	37	11	10647702	10647702	+	Silent	SNP	G	G	A	rs2241489	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr11:10647702G>A	ENST00000436272.1	-	8	1176	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000552103.1_Silent_p.L302L|MRVI1_ENST00000534266.2_Silent_p.L78L|MRVI1_ENST00000558540.1_Silent_p.L78L|MRVI1_ENST00000545852.1_Silent_p.L78L|MRVI1_ENST00000424001.1_Silent_p.L78L|MRVI1_ENST00000423302.2_Silent_p.L393L|MRVI1_ENST00000547195.1_Silent_p.L302L|MRVI1_ENST00000531107.1_Silent_p.L385L|MRVI1_ENST00000421747.1_Silent_p.L384L|MRVI1_ENST00000527509.2_Silent_p.L302L			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	366					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGTCCCAGGAGAGCCCTCGCA	0.667													G|||	2230	0.445288	0.2557	0.4452	5008	,	,		16413	0.6915		0.4622	False		,,,				2504	0.4305																0			11						G	,,,,,	1053,2665		152,749,958	15.0	17.0	16.0		1155,906,234,,234,1179	-0.9	1.0	11	dbSNP_98	16	4000,4168		991,2018,1075	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	,,,,,	1143,2767,2033	AA,AG,GG		48.9716,28.3217,42.5122	,,,,,	385/905,302/822,78/598,,78/598,393/913	10647702	5053,6833	1859	4084	5943	10604278	SO:0001819	synonymous_variant	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1098C>T	11.37:g.10647702G>A			10604278	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37																																																																																					0.667	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579	
WT1	7490	hgsc.bcm.edu	37	11	32410610	32410610	+	Silent	SNP	C	C	T	rs202118284		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr11:32410610C>T	ENST00000379079.2	-	10	1176	c.903G>A	c.(901-903)gcG>gcA	p.A301A	WT1_ENST00000530998.1_Silent_p.A287A|WT1_ENST00000332351.3_Silent_p.A516A|WT1_ENST00000448076.3_Silent_p.A513A	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	448					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A448A(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCCCTCAAAGCGCCAGCTGGA	0.522			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		20200	0.001		0.0	False		,,,				2504	0.0						yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	1	Substitution - coding silent(1)	large_intestine(1)	11											174.0	151.0	159.0					11																	32410610		2202	4299	6501	32367186	SO:0001819	synonymous_variant	7490	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.903G>A	11.37:g.32410610C>T			32367186	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000379079.2	37	CCDS55751.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.649	0.488294	0.12641	.	.	ENSG00000184937	ENST00000527882	T	0.05319	3.46	5.76	-5.59	0.02505	.	0.264865	0.30168	U	0.010254	T	0.06826	0.0174	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17715	-1.0360	7	0.34782	T	0.22	.	5.8858	0.18880	0.0721:0.3259:0.115:0.487	.	.	.	.	T	177	ENSP00000435624:A177T	ENSP00000435624:A177T	A	-	1	0	WT1	32367186	0.950000	0.32346	0.393000	0.26258	0.890000	0.51754	0.024000	0.13555	-1.024000	0.03338	-1.267000	0.01435	GCT		0.522	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
LRP4	4038	hgsc.bcm.edu	37	11	46917461	46917461	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr11:46917461A>G	ENST00000378623.1	-	10	1399	c.1157T>C	c.(1156-1158)cTc>cCc	p.L386P		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	386	EGF-like 1; calcium-binding. {ECO:0000255}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATCCTCTGTGAGCCGGTAGCC	0.607																																																	0			11											73.0	61.0	65.0					11																	46917461		2201	4299	6500	46874037	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1157T>C	11.37:g.46917461A>G	ENSP00000367888:p.Leu386Pro		46874037	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505119	0.85282	.	.	ENSG00000134569	ENST00000378623	D	0.96232	-3.95	5.8	5.8	0.92144	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.98185	0.9400	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98776	1.0730	10	0.54805	T	0.06	.	16.1432	0.81544	1.0:0.0:0.0:0.0	.	386	O75096	LRP4_HUMAN	P	386	ENSP00000367888:L386P	ENSP00000367888:L386P	L	-	2	0	LRP4	46874037	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	8.719000	0.91436	2.214000	0.71695	0.528000	0.53228	CTC		0.607	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
P2RX3	5024	hgsc.bcm.edu	37	11	57135907	57135907	+	Silent	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr11:57135907A>G	ENST00000263314.2	+	10	1033	c.999A>G	c.(997-999)ggA>ggG	p.G333G		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	333					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CTTCTGTGGGAGTGGTGAGTT	0.612																																																	0			11											155.0	122.0	133.0					11																	57135907		2201	4296	6497	56892483	SO:0001819	synonymous_variant	5024			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.999A>G	11.37:g.57135907A>G			56892483	Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	CCDS7953.1																																																																																				0.612	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559	
PRG3	10394	hgsc.bcm.edu	37	11	57147010	57147010	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr11:57147010C>T	ENST00000287143.2	-	3	441	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CAATAGGTAGCGGCAGATCTT	0.532																																					Melanoma(154;1456 2519 19358 45229)												0			11											128.0	126.0	127.0					11																	57147010		2201	4296	6497	56903586	SO:0001583	missense	84883			AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.332G>A	11.37:g.57147010C>T	ENSP00000287143:p.Arg111His		56903586	Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000287143.2	37	CCDS7954.1	.	.	.	.	.	.	.	.	.	.	C	8.927	0.962469	0.18583	.	.	ENSG00000156575	ENST00000287143	T	0.39787	1.06	5.27	-10.5	0.00291	C-type lectin fold (1);C-type lectin (1);	1.246370	0.05475	N	0.553753	T	0.31009	0.0783	L	0.49455	1.56	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23904	-1.0175	10	0.15066	T	0.55	-0.2423	12.365	0.55224	0.0:0.3303:0.0792:0.5905	.	111	Q9Y2Y8	PRG3_HUMAN	H	111	ENSP00000287143:R111H	ENSP00000287143:R111H	R	-	2	0	PRG3	56903586	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.435000	0.00234	-3.785000	0.00107	-2.153000	0.00332	CGC		0.532	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093	
MS4A6E	245802	hgsc.bcm.edu	37	11	60105330	60105330	+	Silent	SNP	C	C	T	rs150096314	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr11:60105330C>T	ENST00000300182.4	+	2	329	c.264C>T	c.(262-264)gaC>gaT	p.D88D		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	88						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GTAAGTTGGACGAAAAGGATA	0.458													C|||	19	0.00379393	0.0144	0.0	5008	,	,		19295	0.0		0.0	False		,,,				2504	0.0																0			11						C		39,4367	43.1+/-76.7	1,37,2165	157.0	148.0	151.0		264	2.0	0.0	11	dbSNP_134	151	0,8600		0,0,4300	no	coding-synonymous	MS4A6E	NM_139249.2		1,37,6465	TT,TC,CC		0.0,0.8852,0.2999		88/148	60105330	39,12967	2203	4300	6503	59861906	SO:0001819	synonymous_variant	245802			AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.264C>T	11.37:g.60105330C>T			59861906	Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Silent	SNP	ENST00000300182.4	37	CCDS7984.1																																																																																				0.458	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1		
DIXDC1	85458	hgsc.bcm.edu	37	11	111853109	111853109	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr11:111853109T>C	ENST00000440460.2	+	8	1110	c.813T>C	c.(811-813)ccT>ccC	p.P271P	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.P60P	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	272	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CCAGGGAGCCTGGAACCTATC	0.418											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			11											44.0	46.0	45.0					11																	111853109		1841	4088	5929	111358319	SO:0001819	synonymous_variant	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.813T>C	11.37:g.111853109T>C		1438	111358319	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37																																																																																					0.418	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954	
KMT2A	4297	hgsc.bcm.edu	37	11	118373628	118373628	+	Missense_Mutation	SNP	A	A	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr11:118373628A>T	ENST00000389506.5	+	27	7012	c.7012A>T	c.(7012-7014)Aca>Tca	p.T2338S	KMT2A_ENST00000534358.1_Missense_Mutation_p.T2341S|KMT2A_ENST00000354520.4_Missense_Mutation_p.T2300S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2338					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.T2338S(1)									GGTTCATAACACAACATCTAG	0.478																																																	1	Substitution - Missense(1)	kidney(1)	11											121.0	129.0	126.0					11																	118373628		2200	4296	6496	117878838	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7012A>T	11.37:g.118373628A>T	ENSP00000374157:p.Thr2338Ser		117878838	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	5.478	0.273182	0.10349	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.80994	-1.44;-1.44;-1.41	5.19	0.0287	0.14159	.	0.666605	0.16113	N	0.228971	T	0.52289	0.1725	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35871	-0.9771	10	0.05721	T	0.95	.	0.3153	0.00294	0.3599:0.2322:0.1574:0.2505	.	2341;2338	E9PQG7;Q03164	.;MLL1_HUMAN	S	2341;2338;2300;1248	ENSP00000436786:T2341S;ENSP00000374157:T2338S;ENSP00000346516:T2300S	ENSP00000346516:T2300S	T	+	1	0	MLL	117878838	0.000000	0.05858	0.022000	0.16811	0.891000	0.51852	0.081000	0.14823	-0.150000	0.11195	0.460000	0.39030	ACA		0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
DPCR1	135656	hgsc.bcm.edu	37	6	30918390	30918390	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:30918390T>C	ENST00000462446.1	+	2	2177	c.2149T>C	c.(2149-2151)Tcc>Ccc	p.S717P	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	281						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CACCACACTATCCCCAGCAGA	0.488																																																	0			6											59.0	67.0	65.0					6																	30918390		692	1591	2283	31026369	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2149T>C	6.37:g.30918390T>C	ENSP00000417182:p.Ser717Pro		31026369	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	-	8.819	0.937133	0.18206	.	.	ENSG00000168631	ENST00000462446	T	0.59772	0.24	2.04	-2.24	0.06909	.	.	.	.	.	T	0.21509	0.0518	M	0.71581	2.175	0.09310	N	0.999999	P	0.46020	0.871	B	0.31812	0.136	T	0.13710	-1.0499	9	0.27785	T	0.31	.	3.0358	0.06122	0.2852:0.0:0.4414:0.2734	.	717	E9PEI6	.	P	717	ENSP00000417182:S717P	ENSP00000417182:S717P	S	+	1	0	DPCR1	31026369	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.904000	0.04080	-0.481000	0.06792	0.359000	0.22050	TCC		0.488	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870	
MUC21	394263	hgsc.bcm.edu	37	6	30954618	30954618	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:30954618T>C	ENST00000376296.3	+	2	907	c.666T>C	c.(664-666)gcT>gcC	p.A222A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	222	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAATGGGGCTGGCACAGCCA	0.637																																																	0			6											149.0	149.0	149.0					6																	30954618		2203	4300	6503	31062597	SO:0001819	synonymous_variant	394263			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.666T>C	6.37:g.30954618T>C			31062597	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																				0.637	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909	
TNXB	7148	hgsc.bcm.edu	37	6	32029492	32029492	+	Missense_Mutation	SNP	C	C	T	rs56144119		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:32029492C>T	ENST00000375244.3	-	21	7375	c.7174G>A	c.(7174-7176)Gag>Aag	p.E2392K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2392K			P22105	TENX_HUMAN	tenascin XB	2452	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCTCTTCCTCTGCAGCTGAG	0.617																																																	0			6											41.0	51.0	48.0					6																	32029492		1224	2532	3756	32137470	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7174G>A	6.37:g.32029492C>T	ENSP00000364393:p.Glu2392Lys		32137470	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	C	6.972	0.549230	0.13374	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56444	0.63;0.46	4.45	4.45	0.53987	.	0.511078	0.17591	N	0.168773	T	0.37892	0.1020	M	0.82823	2.61	0.27403	N	0.954798	B	0.21147	0.052	B	0.22152	0.038	T	0.37911	-0.9685	10	0.17832	T	0.49	.	14.0182	0.64536	0.0:1.0:0.0:0.0	rs56144119	2392	P22105-3	.	K	2392	ENSP00000364393:E2392K;ENSP00000364396:E2392K	ENSP00000364393:E2392K	E	-	1	0	TNXB	32137470	0.027000	0.19231	0.805000	0.32314	0.071000	0.16799	0.580000	0.23803	2.010000	0.58986	0.650000	0.86243	GAG		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
HLA-DRB5	3127	hgsc.bcm.edu	37	6	32497986	32497986	+	Missense_Mutation	SNP	G	G	A	rs200744795		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:32497986G>A	ENST00000374975.3	-	1	78	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCTCCAGGGAGCTTCAGACAC	0.577																																																	0			6											55.0	61.0	59.0					6																	32497986		2203	4296	6499	32605964	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.16C>T	6.37:g.32497986G>A	ENSP00000364114:p.Leu6Phe		32605964		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	4.629	0.117010	0.08881	.	.	ENSG00000198502	ENST00000374975	T	0.00281	8.32	4.42	-2.83	0.05769	MHC classes I/II-like antigen recognition protein (1);	.	.	.	.	T	0.00039	0.0001	L	0.27975	0.815	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.28808	-1.0032	9	0.06891	T	0.86	.	5.2478	0.15506	0.2872:0.0:0.5657:0.1472	rs1059548;rs2308658;rs3200252;rs16822997	6	Q30154	DRB5_HUMAN	F	6	ENSP00000364114:L6F	ENSP00000364114:L6F	L	-	1	0	HLA-DRB5	32605964	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.163000	0.09997	-0.229000	0.09854	-0.350000	0.07774	CTC		0.577	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125	
HLA-DMA	3108	hgsc.bcm.edu	37	6	32920741	32920741	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:32920741A>G	ENST00000374843.4	-	1	158	c.73T>C	c.(73-75)Tgg>Cgg	p.W25R	HLA-DMA_ENST00000395303.3_Missense_Mutation_p.W25R|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.W25R|HLA-DMA_ENST00000464392.1_Intron|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.W25R	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	25					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						GGGACGGCCCAGGAGTGGGGT	0.527																																																	0			6											199.0	196.0	197.0					6																	32920741		1511	2709	4220	33028719	SO:0001583	missense	3108				CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.73T>C	6.37:g.32920741A>G	ENSP00000363976:p.Trp25Arg		33028719	Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	CCDS4761.1	.	.	.	.	.	.	.	.	.	.	A	8.167	0.790886	0.16258	.	.	ENSG00000248993;ENSG00000204257;ENSG00000204257;ENSG00000204257;ENSG00000204257	ENST00000429234;ENST00000395305;ENST00000395303;ENST00000374843;ENST00000341486	T;T;T;T	0.31510	1.49;5.36;4.64;5.75	4.18	1.77	0.24775	.	0.825675	0.11036	N	0.606691	T	0.07999	0.0200	L	0.40543	1.245	0.28771	N	0.900391	B;B	0.15473	0.013;0.013	B;B	0.10450	0.005;0.005	T	0.33059	-0.9883	10	0.27082	T	0.32	.	4.463	0.11675	0.6703:0.2237:0.106:0.0	.	25;25	P28067;Q31604	DMA_HUMAN;.	R	25;25;25;25;17	ENSP00000412457:W25R;ENSP00000378716:W25R;ENSP00000378714:W25R;ENSP00000363976:W25R	ENSP00000345804:W17R	W	-	1	0	XXbac-BPG181M17.5;HLA-DMA	33028719	0.961000	0.32948	0.985000	0.45067	0.095000	0.18619	0.176000	0.16782	0.378000	0.24764	-0.350000	0.07774	TGG		0.527	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120	
PKHD1	5314	hgsc.bcm.edu	37	6	51524215	51524215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:51524215G>T	ENST00000371117.3	-	61	10984	c.10709C>A	c.(10708-10710)tCa>tAa	p.S3570*		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3570					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S3570L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCTAAGACTGAAACCATCAC	0.423																																																	1	Substitution - Missense(1)	lung(1)	6	GRCh37	CM051187	PKHD1	M							71.0	72.0	72.0					6																	51524215		2203	4300	6503	51632174	SO:0001587	stop_gained	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10709C>A	6.37:g.51524215G>T	ENSP00000360158:p.Ser3570*		51632174	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	53	20.758359	0.99934	.	.	ENSG00000170927	ENST00000371117	.	.	.	5.92	5.92	0.95590	.	0.624961	0.15040	N	0.283950	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	15.8173	0.78612	0.0:0.0:1.0:0.0	.	.	.	.	X	3570	.	ENSP00000360158:S3570X	S	-	2	0	PKHD1	51632174	0.897000	0.30589	0.294000	0.24946	0.864000	0.49448	5.826000	0.69293	2.801000	0.96364	0.650000	0.86243	TCA		0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
ICK	22858	hgsc.bcm.edu	37	6	52878505	52878506	+	Missense_Mutation	DNP	TG	TG	AA	rs201964851	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T|G	T|G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:52878505_52878506TG>AA	ENST00000350082.5	-	9	1452_1453	c.1106_1107CA>TT	c.(1105-1107)cCA>cTT	p.P369L	ICK_ENST00000356971.3_Missense_Mutation_p.P369L	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	369					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCAACGGGCTTGGCTTGTCCTC	0.559																																																	0			6																																								52986464|52986465	SO:0001583	missense	22858			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1106_1107delinsAA	6.37:g.52878505_52878506delinsAA	ENSP00000263043:p.Pro369Leu		52986464|52986465	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Silent|Missense_Mutation	SNP	ENST00000350082.5	37	CCDS4949.1																																																																																				0.559	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	
KCNQ5	56479	hgsc.bcm.edu	37	6	73904449	73904449	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:73904449C>T	ENST00000370398.1	+	14	2220	c.2111C>T	c.(2110-2112)gCg>gTg	p.A704V	KCNQ5_ENST00000414165.2_Missense_Mutation_p.A594V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A705V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A704V|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A723V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A695V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A714V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	704					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ACTTTCTACGCGCTTAGCCCT	0.488																																					GBM(142;1375 1859 14391 23261 44706)												0			6											130.0	130.0	130.0					6																	73904449		2203	4300	6503	73961170	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2111C>T	6.37:g.73904449C>T	ENSP00000359425:p.Ala704Val		73961170	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499373	0.64298	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99637	-5.89;-5.9;-5.9;-5.89;-5.91;-5.94;-6.29	5.32	5.32	0.75619	.	0.140270	0.48286	D	0.000184	D	0.99309	0.9758	L	0.56769	1.78	0.25729	N	0.985295	D;D;P;D;D	0.76494	0.999;0.973;0.627;0.994;0.99	D;B;B;P;P	0.64506	0.926;0.439;0.053;0.752;0.734	D	0.98218	1.0476	10	0.39692	T	0.17	.	18.9881	0.92780	0.0:1.0:0.0:0.0	.	594;714;723;695;704	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	V	723;723;704;704;714;705;695;594	ENSP00000345055:A723V;ENSP00000347326:A704V;ENSP00000359425:A704V;ENSP00000385501:A714V;ENSP00000347853:A705V;ENSP00000384453:A695V;ENSP00000409861:A594V	ENSP00000345055:A723V	A	+	2	0	KCNQ5	73961170	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	2.588000	0.46137	2.486000	0.83907	0.561000	0.74099	GCG		0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
CD109	135228	hgsc.bcm.edu	37	6	74481166	74481166	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:74481166G>T	ENST00000287097.5	+	15	1801	c.1689G>T	c.(1687-1689)tgG>tgT	p.W563C	CD109_ENST00000437994.2_Missense_Mutation_p.W563C|CD109_ENST00000422508.2_Missense_Mutation_p.W486C			Q6YHK3	CD109_HUMAN	CD109 molecule	563					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCTATATTGGAGTAAAGTGA	0.378																																																	0			6											79.0	78.0	78.0					6																	74481166		2203	4300	6503	74537887	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1689G>T	6.37:g.74481166G>T	ENSP00000287097:p.Trp563Cys		74537887	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102886	0.56183	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.62941	-0.01;-0.01;-0.01	5.5	5.5	0.81552	Alpha-2-macroglobulin, N-terminal 2 (1);	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.997;0.995;0.992	T	0.78954	-0.2000	10	0.87932	D	0	.	18.332	0.90272	0.0:0.0:1.0:0.0	.	486;563;563;563	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	C	563;486;563	ENSP00000388062:W563C;ENSP00000404475:W486C;ENSP00000287097:W563C	ENSP00000287097:W563C	W	+	3	0	CD109	74537887	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	5.979000	0.70508	2.861000	0.98227	0.655000	0.94253	TGG		0.378	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
COL12A1	1303	hgsc.bcm.edu	37	6	75843057	75843057	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:75843057C>T	ENST00000322507.8	-	34	6055	c.5746G>A	c.(5746-5748)Gtt>Att	p.V1916I	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1916I|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1916I|COL12A1_ENST00000345356.6_Missense_Mutation_p.V752I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1916	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCAGTATAAACGGGAACTACA	0.378																																																	0			6											128.0	119.0	122.0					6																	75843057		1871	4100	5971	75899777	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5746G>A	6.37:g.75843057C>T	ENSP00000325146:p.Val1916Ile		75899777	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033127	0.54896	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.93	4.13	0.48395	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.089397	0.47455	D	0.000239	T	0.38665	0.1049	L	0.45744	1.44	0.36596	D	0.874378	D;P	0.53151	0.958;0.922	P;P	0.49192	0.602;0.506	T	0.32693	-0.9897	10	0.28530	T	0.3	.	6.9233	0.24401	0.133:0.6691:0.1283:0.0696	.	752;1916	Q99715-2;Q99715	.;COCA1_HUMAN	I	1916;1916;752;1916;1916	ENSP00000325146:V1916I;ENSP00000305147:V752I;ENSP00000412864:V1916I;ENSP00000421216:V1916I	ENSP00000325146:V1916I	V	-	1	0	COL12A1	75899777	0.995000	0.38212	0.982000	0.44146	0.060000	0.15804	2.808000	0.47963	1.496000	0.48567	0.650000	0.86243	GTT		0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
ME1	4199	hgsc.bcm.edu	37	6	83963402	83963402	+	Missense_Mutation	SNP	G	G	A	rs267601137		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:83963402G>A	ENST00000369705.3	-	7	876	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	ME1_ENST00000541327.1_Missense_Mutation_p.R88C|ME1_ENST00000543031.1_Missense_Mutation_p.R179C	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	254					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TTCAGGAGACGAAATGCATTC	0.328																																																	0			6											150.0	135.0	140.0					6																	83963402		2203	4299	6502	84020121	SO:0001583	missense	57717			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.760C>T	6.37:g.83963402G>A	ENSP00000358719:p.Arg254Cys		84020121	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663564	0.88251	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.46451	0.87;0.87;0.87	5.53	5.53	0.82687	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.90977	3.165	0.80722	D	1	D	0.57899	0.981	P	0.45946	0.498	T	0.68044	-0.5513	10	0.87932	D	0	-12.6428	18.2288	0.89927	0.0:0.0:1.0:0.0	.	254	P48163	MAOX_HUMAN	C	254;88;179	ENSP00000358719:R254C;ENSP00000439912:R88C;ENSP00000446114:R179C	ENSP00000358719:R254C	R	-	1	0	ME1	84020121	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.969000	0.87988	2.602000	0.87976	0.460000	0.39030	CGT		0.328	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
FNDC1	84624	hgsc.bcm.edu	37	6	159660797	159660797	+	Missense_Mutation	SNP	A	A	G	rs398066440|rs141435210|rs3842694	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:159660797A>G	ENST00000297267.9	+	14	4629	c.4429A>G	c.(4429-4431)Acc>Gcc	p.T1477A	FNDC1_ENST00000340366.6_Missense_Mutation_p.T1414A|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1477	Thr-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1474_T1479delRRTTTT(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ccgccgcacgaccaccacccg	0.667																																																	1	Deletion - In frame(1)	autonomic_ganglia(1)	6											27.0	38.0	35.0					6																	159660797		1528	2938	4466	159580787	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4429A>G	6.37:g.159660797A>G	ENSP00000297267:p.Thr1477Ala		159580787	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.570|5.570	0.290054|0.290054	0.10567|0.10567	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.10099	.|2.91;3.73	5.32|5.32	1.53|1.53	0.23141|0.23141	.|.	.|0.182130	.|0.32687	.|N	.|0.005768	T|T	0.02610|0.02610	0.0079|0.0079	L|L	0.61218|0.61218	1.895|1.895	0.35502|0.35502	D|D	0.799883|0.799883	.|B;B	.|0.14438	.|0.01;0.003	.|B;B	.|0.19391	.|0.025;0.004	T|T	0.45542|0.45542	-0.9254|-0.9254	5|10	.|0.02654	.|T	.|1	-14.0125|-14.0125	6.3522|6.3522	0.21383|0.21383	0.7234:0.1334:0.1432:0.0|0.7234:0.1334:0.1432:0.0	.|.	.|1414;1477	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	G|A	1372|1477;1414	.|ENSP00000297267:T1477A;ENSP00000342460:T1414A	.|ENSP00000297267:T1477A	D|T	+|+	2|1	0|0	FNDC1|FNDC1	159580787|159580787	0.741000|0.741000	0.28217|0.28217	0.016000|0.016000	0.15963|0.15963	0.021000|0.021000	0.10359|0.10359	0.000000|0.000000	0.12993|0.12993	0.022000|0.022000	0.15160|0.15160	-0.274000|-0.274000	0.10170|0.10170	GAC|ACC		0.667	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
TRPV1	7442	hgsc.bcm.edu	37	17	3477172	3477172	+	Missense_Mutation	SNP	C	C	G	rs201612120		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:3477172C>G	ENST00000571088.1	-	13	2071	c.1858G>C	c.(1858-1860)Gcc>Ccc	p.A620P	TRPV1_ENST00000576351.1_Missense_Mutation_p.A610P|TRPV1_ENST00000399756.4_Missense_Mutation_p.A620P|TRPV1_ENST00000399759.3_Missense_Mutation_p.A620P|SHPK_ENST00000572705.1_Missense_Mutation_p.A620P|TRPV1_ENST00000310522.5_Missense_Mutation_p.A560P|TRPV1_ENST00000425167.2_Missense_Mutation_p.A631P|TRPV1_ENST00000174621.6_Missense_Mutation_p.A618P	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	620					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGCCTGCAGGCAGGCCCCCGC	0.627																																					Melanoma(38;962 1762 15789)												0			17											17.0	19.0	19.0					17																	3477172		1896	4125	6021	3423921	SO:0001583	missense	7442			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1858G>C	17.37:g.3477172C>G	ENSP00000461007:p.Ala620Pro		3423921	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	c	14.07	2.425584	0.43020	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.92595	-2.58;-2.58;-2.58;-2.58;-3.07	5.12	2.0	0.26442	Ion transport (1);	.	.	.	.	D	0.82655	0.5084	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.28208	0.0;0.001;0.027;0.203	B;B;B;B	0.25987	0.003;0.004;0.065;0.033	T	0.72510	-0.4271	9	0.48119	T	0.1	.	3.3747	0.07233	0.3304:0.4416:0.0:0.228	.	620;618;560;631	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	P	620;620;618;631;560	ENSP00000382661:A620P;ENSP00000382659:A620P;ENSP00000174621:A618P;ENSP00000409627:A631P;ENSP00000311692:A560P	ENSP00000174621:A618P	A	-	1	0	TRPV1	3423921	0.000000	0.05858	0.371000	0.25978	0.589000	0.36550	-0.972000	0.03802	0.664000	0.31047	0.486000	0.48141	GCC		0.627	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	
SLC5A10	125206	hgsc.bcm.edu	37	17	18923704	18923704	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:18923704T>C	ENST00000395645.3	+	15	1769	c.1751T>C	c.(1750-1752)cTc>cCc	p.L584P	SLC5A10_ENST00000395647.2_Missense_Mutation_p.L600P|SLC5A10_ENST00000395643.2_Missense_Mutation_p.L557P|SLC5A10_ENST00000395642.1_Missense_Mutation_p.L554P|SLC5A10_ENST00000417251.2_Missense_Mutation_p.L548P|SLC5A10_ENST00000317977.6_Missense_Mutation_p.L554P	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	584					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCCATCCTCCTCATGTGTGTC	0.547																																																	0			17											132.0	110.0	117.0					17																	18923704		2203	4300	6503	18864429	SO:0001583	missense	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1751T>C	17.37:g.18923704T>C	ENSP00000379007:p.Leu584Pro		18864429	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476010	0.84640	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.94457	-3.43;-2.85;-3.43;-2.92;-2.74;-2.87	5.2	5.2	0.72013	.	0.066131	0.64402	D	0.000008	D	0.97501	0.9182	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.998;0.999;1.0	D;D;D;D;D	0.79108	0.959;0.982;0.959;0.982;0.992	D	0.98385	1.0560	10	0.87932	D	0	.	15.2436	0.73490	0.0:0.0:0.0:1.0	.	548;557;584;600;554	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	P	554;600;554;548;584;557	ENSP00000324346:L554P;ENSP00000379008:L600P;ENSP00000379004:L554P;ENSP00000401875:L548P;ENSP00000379007:L584P;ENSP00000379005:L557P	ENSP00000324346:L554P	L	+	2	0	SLC5A10	18864429	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.091000	0.64505	2.191000	0.70037	0.529000	0.55759	CTC		0.547	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351	
PCGF2	7703	hgsc.bcm.edu	37	17	36895857	36895857	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:36895857C>T	ENST00000580830.1	-	5	892	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	PCGF2_ENST00000581345.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000579882.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10Q|PCGF2_ENST00000585100.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000360797.2_Missense_Mutation_p.R64Q			P35227	PCGF2_HUMAN	polycomb group ring finger 2	64					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CAGCAGCGGCCGGGTTTTATG	0.612																																																	0			17											144.0	116.0	125.0					17																	36895857		2203	4300	6503	34149383	SO:0001583	missense	7703			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.191G>A	17.37:g.36895857C>T	ENSP00000461961:p.Arg64Gln		34149383	A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603293	0.46423	.	.	ENSG00000056661	ENST00000360797	T	0.41758	0.99	4.56	4.56	0.56223	Zinc finger, RING/FYVE/PHD-type (1);	0.070142	0.64402	D	0.000017	T	0.30103	0.0754	L	0.31578	0.945	0.38636	D	0.9515	B	0.27882	0.192	B	0.21546	0.035	T	0.13872	-1.0493	10	0.20046	T	0.44	-9.2425	14.8624	0.70392	0.0:1.0:0.0:0.0	.	64	P35227	PCGF2_HUMAN	Q	64	ENSP00000354033:R64Q	ENSP00000354033:R64Q	R	-	2	0	PCGF2	34149383	0.030000	0.19436	0.495000	0.27527	0.907000	0.53573	2.863000	0.48396	2.364000	0.80123	0.491000	0.48974	CGG		0.612	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144	
KRTAP4-4	84616	hgsc.bcm.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:39316759T>C	ENST00000390661.3	-	1	224	c.185A>G	c.(184-186)cAc>cGc	p.H62R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	62	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13). {ECO:0000269|PubMed:11279113}.|Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662																																																	0			17											39.0	48.0	45.0					17																	39316759		2200	4294	6494	36570285	SO:0001583	missense	84616			AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.185A>G	17.37:g.39316759T>C	ENSP00000375076:p.His62Arg		36570285	Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	3.774	-0.047123	0.07407	.	.	ENSG00000171396	ENST00000390661	T	0.01203	5.18	5.19	-0.262	0.12958	.	0.000000	0.30101	N	0.010409	T	0.00210	0.0006	N	0.00010	-3.015	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46978	-0.9152	10	0.13108	T	0.6	.	4.2837	0.10844	0.153:0.4186:0.0:0.4284	.	62	Q9BYR3	KRA44_HUMAN	R	62	ENSP00000375076:H62R	ENSP00000375076:H62R	H	-	2	0	KRTAP4-4	36570285	0.000000	0.05858	0.243000	0.24186	0.582000	0.36321	-0.494000	0.06451	0.042000	0.15717	-0.142000	0.14014	CAC		0.662	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1		
KRTAP9-1	728318	hgsc.bcm.edu	37	17	39346595	39346595	+	Missense_Mutation	SNP	T	T	A	rs377187211|rs148036927|rs11283848	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:39346595T>A	ENST00000398470.1	+	1	457	c.457T>A	c.(457-459)Tgc>Agc	p.C153S	KRTAP9-1_ENST00000318329.5_Missense_Mutation_p.C70S|KRTAP9-1_ENST00000377723.3_Intron	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	153	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)		p.T152_C153>S(2)		breast(1)|lung(3)	4						CCAGCCCACCTGCTGTGGGTC	0.582																																																	2	Complex - deletion inframe(2)	breast(2)	17																																								36600121	SO:0001583	missense	85281			AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.457T>A	17.37:g.39346595T>A	ENSP00000381488:p.Cys153Ser		36600121		Missense_Mutation	SNP	ENST00000398470.1	37	CCDS56029.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.796850	0.31777	.	.	ENSG00000240542	ENST00000398470;ENST00000318329	T;T	0.02085	4.46;6.06	3.56	2.46	0.29980	.	.	.	.	.	T	0.06234	0.0161	M	0.73430	2.235	0.09310	N	0.999998	.	.	.	.	.	.	T	0.15636	-1.0430	7	0.51188	T	0.08	.	7.8228	0.29296	0.1856:0.0:0.0:0.8144	.	.	.	.	S	153;70	ENSP00000381488:C153S;ENSP00000325023:C70S	ENSP00000325023:C70S	C	+	1	0	KRTAP9-1	36600121	0.004000	0.15560	0.064000	0.19789	0.084000	0.17831	0.909000	0.28558	0.705000	0.31890	0.338000	0.21704	TGC		0.582	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257781.1		
KRT38	8687	hgsc.bcm.edu	37	17	39595539	39595539	+	Silent	SNP	A	A	G	rs117668654	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:39595539A>G	ENST00000246646.3	-	3	647	c.648T>C	c.(646-648)gaT>gaC	p.D216D		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	216	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CCAGGGTCGCATCATCCAGGA	0.632													G|||	58	0.0115815	0.0008	0.0043	5008	,	,		17656	0.0278		0.0089	False		,,,				2504	0.0174																0			17											85.0	77.0	79.0					17																	39595539		2203	4300	6503	36849065	SO:0001819	synonymous_variant	8687			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.648T>C	17.37:g.39595539A>G			36849065	A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	CCDS11392.1																																																																																				0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771	
KRT17	3872	hgsc.bcm.edu	37	17	39780398	39780398	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:39780398T>C	ENST00000311208.8	-	1	431	c.364A>G	c.(364-366)Agg>Ggg	p.R122G	JUP_ENST00000540235.1_Intron|KRT42P_ENST00000438131.1_RNA	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	122	Linker 1.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGGGCCTGCCTCTGGTACCAG	0.637																																					Pancreas(92;1242 2086 39193 50508)												0			17											74.0	91.0	86.0					17																	39780398		2201	4295	6496	37033924	SO:0001583	missense	3872			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.364A>G	17.37:g.39780398T>C	ENSP00000308452:p.Arg122Gly		37033924	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.384977	0.61956	.	.	ENSG00000128422	ENST00000311208	D	0.89415	-2.51	4.95	4.95	0.65309	Filament (1);	0.327598	0.22028	N	0.065626	D	0.86347	0.5911	L	0.31294	0.92	0.80722	D	1	B	0.30104	0.268	B	0.39339	0.297	D	0.86120	0.1568	10	0.62326	D	0.03	.	15.0804	0.72110	0.0:0.0:0.0:1.0	.	122	Q04695	K1C17_HUMAN	G	122	ENSP00000308452:R122G	ENSP00000308452:R122G	R	-	1	2	KRT17	37033924	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	7.505000	0.81655	2.212000	0.71576	0.260000	0.18958	AGG		0.637	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422	
WNT3	7473	hgsc.bcm.edu	37	17	44845792	44845792	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:44845792G>A	ENST00000225512.5	-	4	1124	c.962C>T	c.(961-963)aCg>aTg	p.T321M		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	321					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTCCGTCCTCGTGTTGTGGCC	0.592																																																	0			17											137.0	120.0	126.0					17																	44845792		2203	4300	6503	42200961	SO:0001583	missense	7473			AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.962C>T	17.37:g.44845792G>A	ENSP00000225512:p.Thr321Met		42200961	Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296462	0.81025	.	.	ENSG00000108379	ENST00000225512	T	0.77750	-1.12	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.84846	2.72	0.80722	D	1	D	0.71674	0.998	D	0.63192	0.912	D	0.90398	0.4400	10	0.87932	D	0	.	18.6237	0.91330	0.0:0.0:1.0:0.0	.	321	P56703	WNT3_HUMAN	M	321	ENSP00000225512:T321M	ENSP00000225512:T321M	T	-	2	0	WNT3	42200961	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.620000	0.88729	0.561000	0.74099	ACG		0.592	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753	
CDC27	996	hgsc.bcm.edu	37	17	45214623	45214623	+	Missense_Mutation	SNP	G	G	A	rs75637741		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:45214623G>A	ENST00000066544.3	-	14	1901	c.1808C>T	c.(1807-1809)gCc>gTc	p.A603V	CDC27_ENST00000531206.1_Missense_Mutation_p.A609V|CDC27_ENST00000446365.2_Missense_Mutation_p.A542V|CDC27_ENST00000527547.1_Missense_Mutation_p.A602V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	603					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAGAGTATAGGCATAAGCGTA	0.383																																																	0			17																																								42569622	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1808C>T	17.37:g.45214623G>A	ENSP00000066544:p.Ala603Val		42569622	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	36	5.873394	0.97049	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.993;0.993;0.994	T	0.80863	-0.1192	10	0.87932	D	0	-9.797	17.5633	0.87913	0.0:0.0:1.0:0.0	.	542;602;609;603	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	V	603;609;542;602	ENSP00000066544:A603V;ENSP00000434614:A609V;ENSP00000392802:A542V;ENSP00000437339:A602V	ENSP00000066544:A603V	A	-	2	0	CDC27	42569622	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.761000	0.94854	0.585000	0.79938	GCC		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
TRIM37	4591	hgsc.bcm.edu	37	17	57057614	57057614	+	IGR	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:57057614T>C	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.V497A	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCTGTAAATGTTAGTGAGGAA	0.463									Mulibrey Nanism																																								0			17											142.0	130.0	134.0					17																	57057614		2203	4300	6503	54412396	SO:0001628	intergenic_variant	22843	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057614T>C			54412396	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625796	0.28889	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.19532	2.14	5.71	5.71	0.89125	.	0.416945	0.26546	N	0.023766	T	0.15739	0.0379	L	0.27053	0.805	0.35165	D	0.770993	B;B	0.25169	0.119;0.095	B;B	0.26202	0.067;0.015	T	0.16335	-1.0406	10	0.44086	T	0.13	-13.6967	10.0643	0.42295	0.0:0.0754:0.0:0.9246	.	506;497	Q8WY54-3;Q8WY54-2	.;.	A	497;348	ENSP00000312411:V497A	ENSP00000312411:V497A	V	+	2	0	PPM1E	54412396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.850000	0.39328	2.189000	0.69895	0.402000	0.26972	GTT		0.463	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294	
USP32	84669	hgsc.bcm.edu	37	17	58297087	58297087	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:58297087A>G	ENST00000300896.4	-	16	2005	c.1811T>C	c.(1810-1812)tTc>tCc	p.F604S	USP32_ENST00000592339.1_Missense_Mutation_p.F274S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	604					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGTCTCAGGAAGAGAAGATA	0.428																																																	0			17											44.0	47.0	46.0					17																	58297087		2201	4294	6495	55651869	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1811T>C	17.37:g.58297087A>G	ENSP00000300896:p.Phe604Ser		55651869	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503663	0.85176	.	.	ENSG00000170832	ENST00000300896	T	0.47528	0.84	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.29908	0.895	0.80722	D	1	D	0.54601	0.967	B	0.44044	0.439	T	0.43245	-0.9403	10	0.62326	D	0.03	.	14.9543	0.71101	1.0:0.0:0.0:0.0	.	604	Q8NFA0	UBP32_HUMAN	S	604	ENSP00000300896:F604S	ENSP00000300896:F604S	F	-	2	0	USP32	55651869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.701000	0.91331	2.005000	0.58758	0.477000	0.44152	TTC		0.428	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
MARCH10	162333	hgsc.bcm.edu	37	17	60814611	60814611	+	Silent	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:60814611C>T	ENST00000311269.5	-	6	892	c.618G>A	c.(616-618)tcG>tcA	p.S206S	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Silent_p.S206S|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Silent_p.S205S|MARCH10_ENST00000583600.1_Silent_p.S244S	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	206					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTGGCTGTGACGATGGGACCA	0.502																																																	0			17											253.0	244.0	247.0					17																	60814611		2203	4300	6503	58168343	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.618G>A	17.37:g.60814611C>T			58168343	D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	CCDS11635.1																																																																																				0.502	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
BPTF	2186	hgsc.bcm.edu	37	17	65900869	65900869	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:65900869A>G	ENST00000321892.4	+	11	3164	c.3103A>G	c.(3103-3105)Agc>Ggc	p.S1035G	BPTF_ENST00000335221.5_Missense_Mutation_p.S1035G|BPTF_ENST00000424123.3_Missense_Mutation_p.S896G|BPTF_ENST00000306378.6_Missense_Mutation_p.S909G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1035					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGTGGTTGGAGCTGGATTAG	0.328																																																	0			17											140.0	140.0	140.0					17																	65900869		2203	4300	6503	63331331	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3103A>G	17.37:g.65900869A>G	ENSP00000315454:p.Ser1035Gly		63331331	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	A	12.20	1.865432	0.32977	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63417	-0.02;-0.04;-0.03	5.78	5.78	0.91487	.	.	.	.	.	T	0.59500	0.2198	L	0.57536	1.79	0.45378	D	0.99836	B;P;P	0.51933	0.41;0.604;0.949	B;B;P	0.45881	0.138;0.387;0.496	T	0.57260	-0.7842	9	0.16896	T	0.51	-2.0167	11.2764	0.49170	0.8639:0.0:0.0:0.1361	.	1035;909;1035	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	G	909;1035;1035	ENSP00000307208:S909G;ENSP00000334351:S1035G;ENSP00000315454:S1035G	ENSP00000307208:S909G	S	+	1	0	BPTF	63331331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.026000	0.64103	2.218000	0.71995	0.529000	0.55759	AGC		0.328	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
ABCA6	23460	hgsc.bcm.edu	37	17	67102293	67102293	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:67102293G>A	ENST00000284425.2	-	19	2623	c.2449C>T	c.(2449-2451)Cac>Tac	p.H817Y		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	817					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGGAAGAGTGAGCCAGCTCC	0.418																																																	0			17											115.0	102.0	107.0					17																	67102293		2203	4300	6503	64613888	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2449C>T	17.37:g.67102293G>A	ENSP00000284425:p.His817Tyr		64613888	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237869	0.22711	.	.	ENSG00000154262	ENST00000284425	D	0.86865	-2.18	4.74	-5.49	0.02584	.	3.282670	0.00654	N	0.000561	T	0.65291	0.2677	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66881	-0.5811	10	0.07030	T	0.85	.	8.8765	0.35348	0.3623:0.1212:0.5165:0.0	.	817	Q8N139	ABCA6_HUMAN	Y	817	ENSP00000284425:H817Y	ENSP00000284425:H817Y	H	-	1	0	ABCA6	64613888	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.547000	0.02186	-1.162000	0.02797	0.561000	0.74099	CAC		0.418	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
SDK2	54549	hgsc.bcm.edu	37	17	71395336	71395336	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:71395336A>G	ENST00000392650.3	-	22	3064	c.3064T>C	c.(3064-3066)Tcc>Ccc	p.S1022P	SDK2_ENST00000388726.3_Missense_Mutation_p.S1022P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1022	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGGGAGATGGAGGTTTTCCCA	0.632																																																	0			17											27.0	27.0	27.0					17																	71395336		2203	4300	6503	68906931	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3064T>C	17.37:g.71395336A>G	ENSP00000376421:p.Ser1022Pro		68906931	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473340	0.63737	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.54071	0.59;0.59;0.59	4.95	4.95	0.65309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	N	0.25825	0.765	0.58432	D	0.999998	B;B;B	0.30741	0.245;0.293;0.134	B;B;B	0.39299	0.196;0.296;0.149	T	0.32745	-0.9895	10	0.18276	T	0.48	.	14.6241	0.68608	1.0:0.0:0.0:0.0	.	1022;1022;1022	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	P	646;1022;1022;198;1022	ENSP00000376421:S1022P;ENSP00000373378:S1022P;ENSP00000407098:S198P	ENSP00000324967:S1022P	S	-	1	0	SDK2	68906931	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.088000	0.94132	1.870000	0.54199	0.454000	0.30748	TCC		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
UBE2O	63893	hgsc.bcm.edu	37	17	74396331	74396331	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:74396331T>C	ENST00000319380.7	-	8	1116	c.1052A>G	c.(1051-1053)gAg>gGg	p.E351G	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	351					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CAGACAGCGCTCCCCAAGCTG	0.602																																																	0			17											44.0	43.0	44.0					17																	74396331		2203	4300	6503	71907926	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1052A>G	17.37:g.74396331T>C	ENSP00000323687:p.Glu351Gly		71907926	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507549	0.85282	.	.	ENSG00000175931	ENST00000319380	T	0.75367	-0.93	4.96	4.96	0.65561	.	0.174864	0.38492	N	0.001666	T	0.80576	0.4649	L	0.40543	1.245	0.47905	D	0.999549	D	0.71674	0.998	D	0.70227	0.968	T	0.82910	-0.0223	10	0.87932	D	0	-23.2309	14.6319	0.68663	0.0:0.0:0.0:1.0	.	351	Q9C0C9	UBE2O_HUMAN	G	351	ENSP00000323687:E351G	ENSP00000323687:E351G	E	-	2	0	UBE2O	71907926	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.875000	0.54330	0.459000	0.35465	GAG		0.602	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066	
SAMSN1	64092	hgsc.bcm.edu	37	21	15889291	15889291	+	Silent	SNP	A	A	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr21:15889291A>C	ENST00000400566.1	-	3	282	c.201T>G	c.(199-201)ggT>ggG	p.G67G	SAMSN1_ENST00000285670.2_Silent_p.G135G|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	67					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCATTTTTTTACCCAAACCGC	0.343																																																	0			21											134.0	116.0	121.0					21																	15889291		1792	4073	5865	14811162	SO:0001819	synonymous_variant	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.201T>G	21.37:g.15889291A>C			14811162	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Silent	SNP	ENST00000400566.1	37	CCDS42906.1																																																																																				0.343	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		
GABPA	2551	hgsc.bcm.edu	37	21	27136964	27136964	+	Silent	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr21:27136964C>T	ENST00000354828.3	+	9	1529	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	GABPA_ENST00000400075.3_Silent_p.D334D	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	334					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D334D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CTGATAAGGACGCTCGAGACT	0.398																																																	1	Substitution - coding silent(1)	large_intestine(1)	21											118.0	106.0	110.0					21																	27136964		2203	4299	6502	26058835	SO:0001819	synonymous_variant	2551				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1002C>T	21.37:g.27136964C>T			26058835	Q12939	Silent	SNP	ENST00000354828.3	37	CCDS13575.1																																																																																				0.398	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040	
SLX4	84464	hgsc.bcm.edu	37	16	3632513	3632513	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr16:3632513G>A	ENST00000294008.3	-	15	5975	c.5335C>T	c.(5335-5337)Cgg>Tgg	p.R1779W	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1779	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGCAGCTCCCGCAGCTCAAAG	0.647								Direct reversal of damage																																									0			16											98.0	94.0	95.0					16																	3632513		2197	4300	6497	3572514	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5335C>T	16.37:g.3632513G>A	ENSP00000294008:p.Arg1779Trp		3572514	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161122	0.38119	.	.	ENSG00000188827	ENST00000294008	T	0.01152	5.26	5.4	2.26	0.28386	.	0.763192	0.12400	N	0.472166	T	0.00967	0.0032	N	0.08118	0	0.24479	N	0.994355	D	0.53312	0.959	B	0.42653	0.394	T	0.58154	-0.7686	10	0.87932	D	0	.	10.8848	0.46960	0.2604:0.6133:0.1263:0.0	.	1779	Q8IY92	SLX4_HUMAN	W	1779	ENSP00000294008:R1779W	ENSP00000294008:R1779W	R	-	1	2	SLX4	3572514	1.000000	0.71417	0.805000	0.32314	0.824000	0.46624	0.868000	0.27982	0.670000	0.31165	-0.375000	0.07067	CGG		0.647	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
SPN	6693	hgsc.bcm.edu	37	16	29675991	29675991	+	Silent	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr16:29675991C>T	ENST00000360121.3	+	2	1034	c.942C>T	c.(940-942)gcC>gcT	p.A314A	SPN_ENST00000395389.2_Silent_p.A314A	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						AGGAGGGGGCCGTGACAGTGA	0.701																																																	0			16											6.0	7.0	6.0					16																	29675991		2137	4172	6309	29583492	SO:0001819	synonymous_variant	10522			J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.942C>T	16.37:g.29675991C>T			29583492	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000360121.3	37	CCDS10650.1																																																																																				0.701	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2		
VPS9D1	9605	hgsc.bcm.edu	37	16	89782980	89782980	+	Silent	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr16:89782980A>G	ENST00000389386.3	-	4	445	c.321T>C	c.(319-321)ccT>ccC	p.P107P	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1_ENST00000561976.1_Silent_p.P37P	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	107					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GTCGGCCGGCAGGCTGGGGAA	0.592																																																	0			16											105.0	123.0	117.0					16																	89782980		2022	4184	6206	88310481	SO:0001819	synonymous_variant	9605			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.321T>C	16.37:g.89782980A>G			88310481		Silent	SNP	ENST00000389386.3	37	CCDS42220.1																																																																																				0.592	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913	
GAS8	2622	hgsc.bcm.edu	37	16	90095486	90095486	+	Intron	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr16:90095486T>C	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.T89A	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CTGCTGCCCGTCTCCCTGTCC	0.602																																																	0			16											82.0	45.0	58.0					16																	90095486		2092	4114	6206	88622987	SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1356T>C	16.37:g.90095486T>C			88622987	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	T	6.646	0.487636	0.12641	.	.	ENSG00000221819	ENST00000408886	T	0.50813	0.73	1.9	-3.61	0.04556	.	.	.	.	.	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B	0.30068	0.267	B	0.33339	0.162	T	0.23119	-1.0197	8	.	.	.	.	4.2774	0.10815	0.0:0.4585:0.2177:0.3238	.	97	O95177	CP003_HUMAN	A	89	ENSP00000386218:T89A	.	T	-	1	0	C16orf3	88622987	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.290000	0.02777	-1.130000	0.02914	-0.609000	0.04063	ACG		0.602	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
VPS4B	9525	hgsc.bcm.edu	37	18	61077591	61077591	+	Silent	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr18:61077591C>T	ENST00000238497.5	-	3	431	c.228G>A	c.(226-228)ctG>ctA	p.L76L	VPS4B_ENST00000591519.1_Silent_p.L76L	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	76	MIT.				ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CTTTATTTTTCAGGTACTCCT	0.388																																																	0			18											189.0	175.0	180.0					18																	61077591		2203	4300	6503	59228571	SO:0001819	synonymous_variant	9525			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.228G>A	18.37:g.61077591C>T			59228571	Q69HW4|Q9GZS7	Silent	SNP	ENST00000238497.5	37	CCDS11983.1																																																																																				0.388	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869	
CDH7	1005	hgsc.bcm.edu	37	18	63529943	63529943	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr18:63529943A>G	ENST00000397968.2	+	11	2080	c.1654A>G	c.(1654-1656)Aga>Gga	p.R552G	CDH7_ENST00000536984.2_Missense_Mutation_p.R552G|CDH7_ENST00000323011.3_Missense_Mutation_p.R552G|RP11-389J22.1_ENST00000581987.1_RNA	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGGCTTCCGGAGACAGGAACA	0.463																																																	0			18											134.0	114.0	121.0					18																	63529943		2203	4300	6503	61680923	SO:0001583	missense	28513			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1654A>G	18.37:g.63529943A>G	ENSP00000381058:p.Arg552Gly		61680923	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659343	0.67586	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.60040	0.22;0.22;0.22	5.37	4.19	0.49359	Cadherin (4);Cadherin-like (1);	0.050797	0.85682	D	0.000000	D	0.82783	0.5112	H	0.98005	4.125	0.58432	D	0.999999	D;D	0.61080	0.989;0.98	D;P	0.65010	0.931;0.721	D	0.87304	0.2307	10	0.72032	D	0.01	.	12.399	0.55402	0.8591:0.1409:0.0:0.0	.	552;552	F5H5X9;Q9ULB5	.;CADH7_HUMAN	G	552	ENSP00000319166:R552G;ENSP00000443030:R552G;ENSP00000381058:R552G	ENSP00000319166:R552G	R	+	1	2	CDH7	61680923	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.734000	0.47368	0.862000	0.35528	0.482000	0.46254	AGA		0.463	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
ITPR1	3708	hgsc.bcm.edu	37	3	4842276	4842276	+	Missense_Mutation	SNP	G	G	A	rs201144431		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:4842276G>A	ENST00000443694.2	+	51	7054	c.7054G>A	c.(7054-7056)Gct>Act	p.A2352T	ITPR1_ENST00000456211.2_Missense_Mutation_p.A2304T|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.A2319T|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.A2352T|ITPR1_ENST00000302640.8_Missense_Mutation_p.A2352T|ITPR1_ENST00000357086.4_Missense_Mutation_p.A2319T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2367					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.A2304T(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCTTCTGGGCGCTTTCAATGT	0.478													G|||	0	0.0	0.0	0.0	5008	,	,		20301	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)	3						G	THR/ALA,THR/ALA,THR/ALA	0,3800		0,0,1900	104.0	100.0	101.0		6955,7054,6910	5.1	1.0	3		101	10,8232		0,10,4111	yes	missense,missense,missense	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	58,58,58	0,10,6011	AA,AG,GG		0.1213,0.0,0.083	benign,benign,benign	2319/2711,2352/2744,2304/2696	4842276	10,12032	1900	4121	6021	4817276	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7054G>A	3.37:g.4842276G>A	ENSP00000401671:p.Ala2352Thr		4817276	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253886	0.59212	0.0	0.001213	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.1	5.1	0.69264	Ion transport (1);	0.053458	0.85682	D	0.000000	D	0.95667	0.8591	L	0.31476	0.935	0.80722	D	1	P;B	0.40180	0.705;0.053	B;B	0.38264	0.269;0.013	D	0.95034	0.8172	10	0.21540	T	0.41	.	18.8652	0.92289	0.0:0.0:1.0:0.0	.	2367;2319	Q14643;G5E9P1	ITPR1_HUMAN;.	T	2367;2352;2352;2319;813;2319;2304;2352	ENSP00000306253:A2352T;ENSP00000346595:A2352T;ENSP00000405934:A2319T;ENSP00000349597:A2319T;ENSP00000397885:A2304T;ENSP00000401671:A2352T	ENSP00000306253:A2352T	A	+	1	0	ITPR1	4817276	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	9.338000	0.96553	2.535000	0.85469	0.591000	0.81541	GCT		0.478	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
FANCD2	2177	hgsc.bcm.edu	37	3	10106487	10106487	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:10106487T>C	ENST00000419585.1	+	23	2257	c.2096T>C	c.(2095-2097)cTc>cCc	p.L699P	FANCD2_ENST00000383807.1_Missense_Mutation_p.L699P|FANCD2_ENST00000383806.1_Missense_Mutation_p.L699P|FANCD2_ENST00000287647.3_Missense_Mutation_p.L699P			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	699					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCCATAAACCTCCTGCCGCTG	0.463			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0			3											96.0	106.0	102.0					3																	10106487		2203	4300	6503	10081487	SO:0001583	missense	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2096T>C	3.37:g.10106487T>C	ENSP00000398754:p.Leu699Pro		10081487	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892685	0.52121	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.65	5.65	0.86999	.	0.059519	0.64402	D	0.000002	T	0.79587	0.4471	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.82481	-0.0436	10	0.87932	D	0	.	14.1569	0.65424	0.0:0.0:0.0:1.0	.	699;699	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	P	699	ENSP00000287647:L699P;ENSP00000373318:L699P;ENSP00000373317:L699P;ENSP00000398754:L699P	ENSP00000287647:L699P	L	+	2	0	FANCD2	10081487	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	6.697000	0.74603	2.293000	0.77203	0.477000	0.44152	CTC		0.463	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
ZNF385D	79750	hgsc.bcm.edu	37	3	21706484	21706484	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:21706484A>G	ENST00000281523.2	-	2	577	c.59T>C	c.(58-60)gTc>gCc	p.V20A	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	20						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGGTGGACGGACAAGGGCCGG	0.522																																																	0			3											76.0	71.0	72.0					3																	21706484		2203	4300	6503	21681488	SO:0001583	missense	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.59T>C	3.37:g.21706484A>G	ENSP00000281523:p.Val20Ala		21681488		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.725243	0.30593	.	.	ENSG00000151789	ENST00000281523	T	0.33216	1.42	5.62	5.62	0.85841	.	0.130120	0.50627	D	0.000112	T	0.29620	0.0739	L	0.44542	1.39	0.36111	D	0.844831	B	0.22541	0.071	B	0.20184	0.028	T	0.26677	-1.0096	10	0.56958	D	0.05	2.3122	14.9882	0.71365	1.0:0.0:0.0:0.0	.	20	Q9H6B1	Z385D_HUMAN	A	20	ENSP00000281523:V20A	ENSP00000281523:V20A	V	-	2	0	ZNF385D	21681488	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.736000	0.74811	2.141000	0.66446	0.482000	0.46254	GTC		0.522	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
DNAH1	25981	hgsc.bcm.edu	37	3	52404598	52404598	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:52404598A>G	ENST00000420323.2	+	40	6625	c.6364A>G	c.(6364-6366)Agt>Ggt	p.S2122G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2122					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGGGACAGCAGTGGCCGCAC	0.587																																																	0			3											31.0	34.0	33.0					3																	52404598		1978	4146	6124	52379638	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6364A>G	3.37:g.52404598A>G	ENSP00000401514:p.Ser2122Gly		52379638	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654667	0.29425	.	.	ENSG00000114841	ENST00000420323	T	0.23754	1.89	4.61	-7.43	0.01383	.	4.036830	0.00837	N	0.001703	T	0.18002	0.0432	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29882	-0.9997	10	0.45353	T	0.12	.	9.793	0.40717	0.4239:0.4361:0.14:0.0	.	2122	C9JXH6	.	G	2122	ENSP00000401514:S2122G	ENSP00000401514:S2122G	S	+	1	0	DNAH1	52379638	0.000000	0.05858	0.001000	0.08648	0.324000	0.28378	-1.762000	0.01803	-0.955000	0.03636	-0.415000	0.06103	AGT		0.587	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
GXYLT2	727936	hgsc.bcm.edu	37	3	73016713	73016713	+	Missense_Mutation	SNP	T	T	C	rs78135180		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:73016713T>C	ENST00000389617.4	+	6	1153	c.992T>C	c.(991-993)tTc>tCc	p.F331S		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	331					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CTCTATGTATTCCCCTGCCAG	0.493																																																	0			3											78.0	76.0	76.0					3																	73016713		1995	4190	6185	73099403	SO:0001583	missense	0			AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.992T>C	3.37:g.73016713T>C	ENSP00000374268:p.Phe331Ser		73099403		Missense_Mutation	SNP	ENST00000389617.4	37	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614776	0.87359	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	T;T	0.22539	1.95;1.95	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.83692	2.655	0.80722	D	1	D	0.61697	0.99	D	0.67103	0.949	T	0.55842	-0.8077	10	0.72032	D	0.01	.	15.928	0.79635	0.0:0.0:0.0:1.0	.	331	A0PJZ3	GXLT2_HUMAN	S	331;92	ENSP00000374268:F331S;ENSP00000420426:F92S	ENSP00000374268:F331S	F	+	2	0	GXYLT2	73099403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.800000	0.85949	2.221000	0.72209	0.455000	0.32223	TTC		0.493	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393	
EPHA6	285220	hgsc.bcm.edu	37	3	96706487	96706487	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:96706487A>G	ENST00000389672.5	+	3	802	c.764A>G	c.(763-765)gAt>gGt	p.D255G	EPHA6_ENST00000542517.1_Missense_Mutation_p.D161G|EPHA6_ENST00000470610.2_Missense_Mutation_p.D255G	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	161						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ACCCAGATGGATTTGGGTGAT	0.423																																																	0			3											196.0	203.0	200.0					3																	96706487		1900	4131	6031	98189177	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.764A>G	3.37:g.96706487A>G	ENSP00000374323:p.Asp255Gly		98189177	D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124470	0.77436	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.10192	2.9;2.9;2.9	5.48	5.48	0.80851	.	0.000000	0.64402	U	0.000002	T	0.35913	0.0948	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.19516	-1.0303	10	0.87932	D	0	.	14.7559	0.69564	1.0:0.0:0.0:0.0	.	255;255	B3KS12;E7EU71	.;.	G	255;255;161	ENSP00000420598:D255G;ENSP00000374323:D255G;ENSP00000439758:D161G	ENSP00000374323:D255G	D	+	2	0	EPHA6	98189177	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	9.339000	0.96797	2.066000	0.61787	0.533000	0.62120	GAT		0.423	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
TFG	10342	hgsc.bcm.edu	37	3	100467198	100467198	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:100467198T>C	ENST00000240851.4	+	8	1366	c.1026T>C	c.(1024-1026)gcT>gcC	p.A342A	TFG_ENST00000490574.1_Silent_p.A342A|TFG_ENST00000418917.2_Silent_p.A338A|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Silent_p.A338A	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	342					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ATACTGTGGCTCCTGCCTCTC	0.517			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	0			3											76.0	78.0	77.0					3																	100467198		2203	4300	6503	101949888	SO:0001819	synonymous_variant	10342			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.1026T>C	3.37:g.100467198T>C			101949888	D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	ENST00000240851.4	37	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	T	5.539	0.284441	0.10513	.	.	ENSG00000114354	ENST00000443578	.	.	.	6.16	4.36	0.52297	.	.	.	.	.	T	0.63153	0.2487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64188	-0.6466	5	0.87932	D	0	0.0058	6.5823	0.22602	0.0:0.6542:0.1302:0.2156	.	.	.	.	P	338	.	ENSP00000409727:L338P	L	+	2	0	TFG	101949888	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.448000	0.21726	0.898000	0.36418	-0.248000	0.11899	CTC		0.517	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070	
IMPG2	50939	hgsc.bcm.edu	37	3	100988374	100988374	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:100988374C>T	ENST00000193391.7	-	8	1059	c.872G>A	c.(871-873)cGt>cAt	p.R291H		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	291	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TTCAAGTACACGAATTTCCTT	0.269																																																	0			3											70.0	69.0	69.0					3																	100988374		2203	4289	6492	102471064	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.872G>A	3.37:g.100988374C>T	ENSP00000193391:p.Arg291His		102471064	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	1.238	-0.622288	0.03636	.	.	ENSG00000081148	ENST00000193391	T	0.39406	1.08	5.96	-5.92	0.02261	SEA (2);	0.935231	0.09185	N	0.836948	T	0.22551	0.0544	N	0.17082	0.46	0.18873	N	0.999983	B;B	0.18610	0.029;0.029	B;B	0.10450	0.005;0.003	T	0.41574	-0.9501	10	0.07990	T	0.79	0.8834	15.6188	0.76790	0.0:0.3222:0.0:0.6778	.	291;291	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	H	291	ENSP00000193391:R291H	ENSP00000193391:R291H	R	-	2	0	IMPG2	102471064	0.535000	0.26370	0.027000	0.17364	0.778000	0.44026	-0.507000	0.06352	-1.186000	0.02713	0.655000	0.94253	CGT		0.269	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
CCDC37	348807	hgsc.bcm.edu	37	3	126142435	126142435	+	Missense_Mutation	SNP	G	G	A	rs140223152|rs398102320|rs35657615|rs200815085	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:126142435G>A	ENST00000352312.1	+	13	1333	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	CCDC37_ENST00000505024.1_Missense_Mutation_p.E413K|CCDC37_ENST00000393425.1_Missense_Mutation_p.E413K	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	412				Missing (in Ref. 3; AAI01370/AAI01368). {ECO:0000305}.						NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCAGGAGACGGAGAAGACCCT	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17029	0.0		0.0	False		,,,				2504	0.0																0			3											109.0	83.0	92.0					3																	126142435		2200	4257	6457	127625125	SO:0001583	missense	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1234G>A	3.37:g.126142435G>A	ENSP00000344749:p.Glu412Lys		127625125	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295376	0.81025	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.41400	1.0;1.0;1.0	4.93	4.93	0.64822	.	0.159668	0.53938	D	0.000054	T	0.66015	0.2747	M	0.83384	2.64	0.58432	D	0.999999	D;D	0.69078	0.997;0.996	D;P	0.66716	0.946;0.884	T	0.71137	-0.4680	10	0.56958	D	0.05	-35.5644	15.657	0.77144	0.0:0.0:1.0:0.0	.	413;412	Q494V2-2;Q494V2	.;CCD37_HUMAN	K	412;413;413	ENSP00000344749:E412K;ENSP00000377076:E413K;ENSP00000423046:E413K	ENSP00000344749:E412K	E	+	1	0	CCDC37	127625125	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	6.860000	0.75473	2.284000	0.76573	0.491000	0.48974	GAG		0.612	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
EPHB1	2047	hgsc.bcm.edu	37	3	134851696	134851696	+	Missense_Mutation	SNP	C	C	T	rs576710309	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:134851696C>T	ENST00000398015.3	+	5	1472	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	368	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCAGACCGCCGGAGCTGCTC	0.622													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19081	0.0		0.001	False		,,,				2504	0.0																0			3											40.0	46.0	44.0					3																	134851696		2194	4291	6485	136334386	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1102C>T	3.37:g.134851696C>T	ENSP00000381097:p.Arg368Trp		136334386	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662017	0.88251	.	.	ENSG00000154928	ENST00000398015	T	0.49432	0.78	5.41	3.55	0.40652	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71069	-0.4699	10	0.87932	D	0	.	14.2335	0.65908	0.2725:0.7275:0.0:0.0	.	368	P54762	EPHB1_HUMAN	W	368	ENSP00000381097:R368W	ENSP00000381097:R368W	R	+	1	2	EPHB1	136334386	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.374000	0.44274	0.587000	0.29643	0.655000	0.94253	CGG		0.622	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
ATR	545	hgsc.bcm.edu	37	3	142215235	142215235	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:142215235A>G	ENST00000350721.4	-	34	5987	c.5866T>C	c.(5866-5868)Tac>Cac	p.Y1956H	ATR_ENST00000383101.3_Missense_Mutation_p.Y1892H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1956	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTTTCCACGTACAGTTCAGCG	0.418								Other conserved DNA damage response genes																																									0			3											141.0	116.0	125.0					3																	142215235		2203	4300	6503	143697925	SO:0001583	missense	390502			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5866T>C	3.37:g.142215235A>G	ENSP00000343741:p.Tyr1956His		143697925	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758042	0.31137	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.65916	-0.18;-0.18	5.78	4.63	0.57726	PIK-related kinase (1);Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);	0.343185	0.31279	N	0.007930	T	0.39886	0.1095	N	0.12637	0.245	0.37478	D	0.915864	B	0.15930	0.015	B	0.23716	0.048	T	0.26503	-1.0101	10	0.20046	T	0.44	-3.09	6.7266	0.23361	0.7934:0.0:0.0711:0.1355	.	1956	Q13535	ATR_HUMAN	H	1956;1892	ENSP00000343741:Y1956H;ENSP00000372581:Y1892H	ENSP00000343741:Y1956H	Y	-	1	0	ATR	143697925	0.999000	0.42202	0.886000	0.34754	0.990000	0.78478	4.137000	0.58010	1.024000	0.39682	0.533000	0.62120	TAC		0.418	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
WDR49	151790	hgsc.bcm.edu	37	3	167322162	167322162	+	Silent	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:167322162A>G	ENST00000308378.3	-	2	335	c.30T>C	c.(28-30)cgT>cgC	p.R10R	WDR49_ENST00000479765.1_Silent_p.R351R|WDR49_ENST00000453925.2_Silent_p.R63R	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	10			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.							breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCATATTAAGACGCTTTTTTG	0.358																																																	0			3											155.0	152.0	153.0					3																	167322162		2203	4300	6503	168804856	SO:0001819	synonymous_variant	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.30T>C	3.37:g.167322162A>G			168804856	Q8N297	Silent	SNP	ENST00000308378.3	37	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	0.201	-1.044951	0.01997	.	.	ENSG00000174776	ENST00000472600	.	.	.	5.36	1.31	0.21738	.	.	.	.	.	T	0.24509	0.0594	.	.	.	0.19300	N	0.999972	.	.	.	.	.	.	T	0.23119	-1.0197	4	.	.	.	.	4.2442	0.10663	0.6656:0.1361:0.0803:0.118	.	.	.	.	A	75	.	.	V	-	2	0	WDR49	168804856	0.038000	0.19896	0.917000	0.36280	0.006000	0.05464	0.238000	0.18004	0.343000	0.23821	0.533000	0.62120	GTC		0.358	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	
PIK3CA	5290	hgsc.bcm.edu	37	3	178952092	178952092	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:178952092T>C	ENST00000263967.3	+	21	3304	c.3147T>C	c.(3145-3147)ggT>ggC	p.G1049G	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1049	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> S (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G1049G(9)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CACATCATGGTGGCTGGACAA	0.383		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	9	Substitution - coding silent(9)	large_intestine(8)|ovary(1)	3											98.0	88.0	91.0					3																	178952092		1917	4132	6049	180434786	SO:0001819	synonymous_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3147T>C	3.37:g.178952092T>C			180434786	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.383	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178952152	178952152	+	Nonstop_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:178952152A>G	ENST00000263967.3	+	21	3364	c.3207A>G	c.(3205-3207)tgA>tgG	p.*1069W	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	0					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.*1069_*1069insWKDN*(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATTGAACTGAAAAGATAACT	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	3	Insertion - In frame(3)	endometrium(2)|ovary(1)	3											79.0	71.0	74.0					3																	178952152		1897	4138	6035	180434846	SO:0001578	stop_lost	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3207A>G	3.37:g.178952152A>G	ENSP00000263967:p.*1069Trpext*4		180434846	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351538	0.41700	.	.	ENSG00000121879	ENST00000263967	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.20563	N	0.999881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3945	0.83586	1.0:0.0:0.0:0.0	.	.	.	.	W	1069	.	.	X	+	3	0	PIK3CA	180434846	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	8.526000	0.90588	2.265000	0.75225	0.482000	0.46254	TGA		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
FAM43A	131583	hgsc.bcm.edu	37	3	194408704	194408704	+	Silent	SNP	A	A	G	rs4677673	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:194408704A>G	ENST00000329759.4	+	1	2083	c.1149A>G	c.(1147-1149)tcA>tcG	p.S383S		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	383										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GCCTGCTGTCAGGCGACAGCA	0.711													G|||	3580	0.714856	0.8116	0.6282	5008	,	,		12995	0.7728		0.6262	False		,,,				2504	0.6769																0			3						G		3248,806		1308,632,87	10.0	11.0	10.0		1149	-6.1	0.5	3	dbSNP_111	10	5248,2772		1743,1762,505	no	coding-synonymous	FAM43A	NM_153690.4		3051,2394,592	GG,GA,AA		34.5636,19.8816,29.6339		383/424	194408704	8496,3578	2027	4010	6037	195889993	SO:0001819	synonymous_variant	131583			AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.1149A>G	3.37:g.194408704A>G			195889993	A3KME2|Q8IXP4|Q8WZ07	Silent	SNP	ENST00000329759.4	37	CCDS33923.1																																																																																				0.711	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690	
PAK2	5062	hgsc.bcm.edu	37	3	196530013	196530013	+	Silent	SNP	A	A	G	rs73205842	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:196530013A>G	ENST00000327134.3	+	4	736	c.414A>G	c.(412-414)aaA>aaG	p.K138K		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	138					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGAAGCAGAAATATCTGAGCT	0.418																																																	0			3											92.0	84.0	87.0					3																	196530013		2203	4300	6503	198014410	SO:0001819	synonymous_variant	5586			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.414A>G	3.37:g.196530013A>G			198014410	Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																				0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577	
PAK2	5062	hgsc.bcm.edu	37	3	196530022	196530022	+	Silent	SNP	C	C	T	rs115224945	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:196530022C>T	ENST00000327134.3	+	4	745	c.423C>T	c.(421-423)agC>agT	p.S141S		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	141					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AATATCTGAGCTTTACTCCTC	0.418																																																	0			3											85.0	79.0	81.0					3																	196530022		2203	4300	6503	198014419	SO:0001819	synonymous_variant	5586			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.423C>T	3.37:g.196530022C>T			198014419	Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	CCDS3321.1																																																																																				0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577	
KRAS	3845	hgsc.bcm.edu	37	12	25380283	25380283	+	Missense_Mutation	SNP	C	C	T	rs121913528		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr12:25380283C>T	ENST00000256078.4	-	3	238	c.175G>A	c.(175-177)Gca>Aca	p.A59T	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.A59T	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	59			A -> T (in bladder cancer and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:1553789}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.A59T(10)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TCTTGACCTGCTGTGTCGAGA	0.423	A59T(143B_BONE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	10	Substitution - Missense(10)	stomach(5)|large_intestine(3)|urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	12											107.0	95.0	99.0					12																	25380283		2203	4300	6503	25271550	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.175G>A	12.37:g.25380283C>T	ENSP00000256078:p.Ala59Thr		25271550	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083391	0.94050	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88741	-2.42;-2.42	5.77	4.87	0.63330	Small GTP-binding protein domain (1);	0.046090	0.85682	D	0.000000	D	0.95201	0.8444	H	0.96333	3.805	0.80722	D	1	P;P	0.50528	0.635;0.936	B;P	0.54210	0.321;0.745	D	0.96531	0.9393	10	0.72032	D	0.01	.	16.1496	0.81605	0.0:0.8663:0.1337:0.0	.	59;59	P01116-2;P01116	.;RASK_HUMAN	T	59	ENSP00000308495:A59T;ENSP00000256078:A59T	ENSP00000256078:A59T	A	-	1	0	KRAS	25271550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.763000	0.85283	1.544000	0.49359	0.655000	0.94253	GCA		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
KRT4	3851	hgsc.bcm.edu	37	12	53207582	53207582	+	Silent	SNP	A	A	G	rs74445207	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr12:53207582A>G	ENST00000551956.1	-	1	753	c.261T>C	c.(259-261)ggT>ggC	p.G87G	KRT4_ENST00000458244.2_Silent_p.G67G|KRT4_ENST00000293774.4_Silent_p.G161G			P19013	K2C4_HUMAN	keratin 4	87	Gly-rich.|Head.		Missing (in allele K4B). {ECO:0000269|PubMed:16541075, ECO:0000269|PubMed:7684424}.		cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCCCAAATCCACCACCAAAGC	0.607																																					Pancreas(190;284 2995 41444 45903)												0			12											43.0	58.0	53.0					12																	53207582		2119	4255	6374	51493849	SO:0001819	synonymous_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.261T>C	12.37:g.53207582A>G			51493849	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																				0.607	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
LRP1	4035	hgsc.bcm.edu	37	12	57585235	57585235	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr12:57585235C>T	ENST00000243077.3	+	44	7835	c.7369C>T	c.(7369-7371)Cgc>Tgc	p.R2457C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2457					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAAGCTGCTGCGCGTGGACAT	0.662																																																	0			12											73.0	62.0	66.0					12																	57585235		2203	4298	6501	55871502	SO:0001583	missense	10438			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7369C>T	12.37:g.57585235C>T	ENSP00000243077:p.Arg2457Cys		55871502	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	c	17.26	3.343345	0.61073	.	.	ENSG00000123384	ENST00000243077	D	0.91631	-2.88	4.61	4.61	0.57282	Six-bladed beta-propeller, TolB-like (1);	0.150547	0.44285	D	0.000480	D	0.96049	0.8713	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95923	0.8932	10	0.56958	D	0.05	.	11.6841	0.51474	0.1772:0.8228:0.0:0.0	.	2457	Q07954	LRP1_HUMAN	C	2457	ENSP00000243077:R2457C	ENSP00000243077:R2457C	R	+	1	0	LRP1	55871502	1.000000	0.71417	0.990000	0.47175	0.906000	0.53458	2.371000	0.44248	2.424000	0.82194	0.531000	0.56144	CGC		0.662	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
NUAK1	9891	hgsc.bcm.edu	37	12	106480539	106480539	+	Silent	SNP	G	G	A	rs267603280		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr12:106480539G>A	ENST00000261402.2	-	3	1865	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CAGCAGAGACGATCTGCCGGA	0.517																																																	0			12											112.0	91.0	98.0					12																	106480539		2203	4300	6503	105004669	SO:0001819	synonymous_variant	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.486C>T	12.37:g.106480539G>A			105004669	A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	CCDS31892.1																																																																																				0.517	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840	
KNTC1	9735	hgsc.bcm.edu	37	12	123055446	123055446	+	Silent	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr12:123055446A>G	ENST00000333479.7	+	23	2061	c.1884A>G	c.(1882-1884)gaA>gaG	p.E628E	KNTC1_ENST00000450485.2_Silent_p.E591E	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	628					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AATGGTTGGAACAAGCAGCCA	0.294																																																	0			12											22.0	21.0	21.0					12																	123055446		1793	4059	5852	121621399	SO:0001819	synonymous_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1884A>G	12.37:g.123055446A>G			121621399	A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1																																																																																				0.294	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
SBNO1	55206	hgsc.bcm.edu	37	12	123810120	123810120	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr12:123810120T>C	ENST00000602398.1	-	15	2029	c.1902A>G	c.(1900-1902)acA>acG	p.T634T	SBNO1_ENST00000267176.4_Silent_p.T633T|SBNO1_ENST00000420886.2_Silent_p.T634T|SBNO1_ENST00000602750.1_Silent_p.T633T			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	634			T -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAGCTTCTCCTGTAGACTGCA	0.333																																																	0			12											164.0	172.0	170.0					12																	123810120		2203	4300	6503	122376073	SO:0001819	synonymous_variant	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1902A>G	12.37:g.123810120T>C			122376073	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	CCDS53844.1																																																																																				0.333	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
ATP10A	57194	hgsc.bcm.edu	37	15	25972335	25972335	+	Silent	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr15:25972335G>A	ENST00000356865.6	-	4	930	c.819C>T	c.(817-819)gaC>gaT	p.D273D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	273					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGACGACTGCGTCCGTGTTCC	0.572																																																	0			15											150.0	115.0	127.0					15																	25972335		2203	4300	6503	23523428	SO:0001819	synonymous_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.819C>T	15.37:g.25972335G>A			23523428	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.572	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
PHGR1	644844	hgsc.bcm.edu	37	15	40648372	40648372	+	Silent	SNP	T	T	C	rs12900982		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr15:40648372T>C	ENST00000448599.2	+	4	173	c.117T>C	c.(115-117)ggT>ggC	p.G39G	DISP2_ENST00000267889.3_5'Flank	NM_001145643.1	NP_001139115.1	C9JFL3	PHGR1_HUMAN	proline/histidine/glycine-rich 1	39	Gly-rich.																CCCACCATGGTCCAGGGCCCT	0.776																																																	0			15											1.0	2.0	2.0					15																	40648372		356	1106	1462	38435664	SO:0001819	synonymous_variant	0				CCDS45225.1	15q15.1	2009-10-08				ENSG00000233041			37226	protein-coding gene	gene with protein product							Standard	NM_001145643		Approved		uc010uco.2	C9JFL3		ENST00000448599.2:c.117T>C	15.37:g.40648372T>C			38435664		Silent	SNP	ENST00000448599.2	37	CCDS45225.1																																																																																				0.776	PHGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418450.1	NM_001145643	
DNAJC17	55192	hgsc.bcm.edu	37	15	41068792	41068792	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr15:41068792T>C	ENST00000220496.4	-	5	359	c.329A>G	c.(328-330)cAg>cGg	p.Q110R		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	110					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCACTCTCCTGGGCCTGGGC	0.632																																																	0			15											105.0	94.0	98.0					15																	41068792		2203	4300	6503	38856084	SO:0001583	missense	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.329A>G	15.37:g.41068792T>C	ENSP00000220496:p.Gln110Arg		38856084		Missense_Mutation	SNP	ENST00000220496.4	37	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	T	7.046	0.563433	0.13498	.	.	ENSG00000104129	ENST00000220496	T	0.18502	2.21	4.99	1.26	0.21427	.	0.988489	0.08264	N	0.972521	T	0.07683	0.0193	N	0.10809	0.05	0.19300	N	0.999973	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	10	0.15952	T	0.53	.	3.7073	0.08405	0.3952:0.1507:0.0:0.4541	.	110	Q9NVM6	DJC17_HUMAN	R	110	ENSP00000220496:Q110R	ENSP00000220496:Q110R	Q	-	2	0	DNAJC17	38856084	0.930000	0.31532	0.218000	0.23776	0.992000	0.81027	1.403000	0.34612	-0.036000	0.13669	0.459000	0.35465	CAG		0.632	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163	
MGA	23269	hgsc.bcm.edu	37	15	42042158	42042158	+	Missense_Mutation	SNP	A	A	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr15:42042158A>T	ENST00000570161.1	+	16	6353	c.6353A>T	c.(6352-6354)aAa>aTa	p.K2118I	MGA_ENST00000219905.7_Missense_Mutation_p.K2118I|MGA_ENST00000545763.1_Missense_Mutation_p.K1909I|MGA_ENST00000389936.4_Missense_Mutation_p.K2079I|MGA_ENST00000566586.1_Missense_Mutation_p.K1909I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAACAGCAGAAAGGATTTGAC	0.363																																																	0			15											63.0	58.0	60.0					15																	42042158		1841	4100	5941	39829450	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6353A>T	15.37:g.42042158A>T	ENSP00000457035:p.Lys2118Ile		39829450	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	6.335	0.429890	0.11987	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86030	-2.06;-2.02;-2.04	4.53	-6.79E-4	0.14037	.	0.859224	0.09962	N	0.733244	T	0.71247	0.3317	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.31054	0.278;0.228;0.306;0.306	B;B;B;B	0.28305	0.088;0.082;0.054;0.054	T	0.60989	-0.7153	10	0.72032	D	0.01	.	4.9871	0.14196	0.4958:0.1578:0.3464:0.0	.	734;1909;2118;2079	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	I	2118;2079;1909	ENSP00000219905:K2118I;ENSP00000374586:K2079I;ENSP00000442467:K1909I	ENSP00000219905:K2118I	K	+	2	0	MGA	39829450	0.000000	0.05858	0.607000	0.28956	0.464000	0.32679	0.724000	0.25954	-0.004000	0.14419	0.383000	0.25322	AAA		0.363	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
SPTBN5	51332	hgsc.bcm.edu	37	15	42167185	42167185	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr15:42167185A>G	ENST00000320955.6	-	23	4584	c.4357T>C	c.(4357-4359)Tcc>Ccc	p.S1453P		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1453					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTCTGGCTGGAGCGCAGGTCC	0.637																																																	0			15											36.0	40.0	39.0					15																	42167185		2046	4172	6218	39954477	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4357T>C	15.37:g.42167185A>G	ENSP00000317790:p.Ser1453Pro		39954477		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	8.280	0.815389	0.16607	.	.	ENSG00000137877	ENST00000320955	T	0.74842	-0.88	5.12	2.72	0.32119	.	0.000000	0.64402	D	0.000001	T	0.65186	0.2667	M	0.78637	2.42	0.09310	N	0.999999	P	0.43169	0.8	B	0.34180	0.177	T	0.64601	-0.6369	10	0.72032	D	0.01	.	2.1834	0.03880	0.5946:0.1622:0.0871:0.1562	.	1453	Q9NRC6	SPTN5_HUMAN	P	1453	ENSP00000317790:S1453P	ENSP00000317790:S1453P	S	-	1	0	SPTBN5	39954477	1.000000	0.71417	0.004000	0.12327	0.047000	0.14425	3.026000	0.49689	0.252000	0.21531	0.454000	0.30748	TCC		0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
SNX1	6642	hgsc.bcm.edu	37	15	64410395	64410395	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr15:64410395T>C	ENST00000559844.1	+	3	365	c.351T>C	c.(349-351)ccT>ccC	p.P117P	SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000353874.4_Silent_p.P117P|SNX1_ENST00000561026.1_Intron|SNX1_ENST00000261889.5_Silent_p.P117P			Q13596	SNX1_HUMAN	sorting nexin 1	117				P -> S (in Ref. 2; AAC17182). {ECO:0000305}.	early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TTTCTCTTCCTCCTCAGGAAG	0.433																																																	0			15											108.0	98.0	101.0					15																	64410395		2203	4300	6503	62197448	SO:0001819	synonymous_variant	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.351T>C	15.37:g.64410395T>C			62197448	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Silent	SNP	ENST00000559844.1	37	CCDS32266.1																																																																																				0.433	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099	
SLC24A1	9187	hgsc.bcm.edu	37	15	65917615	65917615	+	Silent	SNP	A	A	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr15:65917615A>C	ENST00000261892.6	+	2	1484	c.1197A>C	c.(1195-1197)ccA>ccC	p.P399P	SLC24A1_ENST00000546330.1_Silent_p.P399P|SLC24A1_ENST00000339868.6_Silent_p.P399P|SLC24A1_ENST00000399033.4_Silent_p.P399P|SLC24A1_ENST00000537259.1_Silent_p.P399P|SLC24A1_ENST00000544319.2_Silent_p.P399P	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	399					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TTGTGAAGCCAACCCCAGCCA	0.602																																																	0			15											74.0	77.0	76.0					15																	65917615		2137	4246	6383	63704668	SO:0001819	synonymous_variant	9187			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1197A>C	15.37:g.65917615A>C			63704668	O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	CCDS45284.1																																																																																				0.602	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727	
DENND4A	10260	hgsc.bcm.edu	37	15	65994657	65994657	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr15:65994657C>A	ENST00000431932.2	-	17	2624	c.2416G>T	c.(2416-2418)Gat>Tat	p.D806Y	DENND4A_ENST00000443035.3_Missense_Mutation_p.D806Y	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	806					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCAGGTGGATCCATCTTCTTT	0.388																																																	0			15											44.0	37.0	39.0					15																	65994657		1775	3876	5651	63781711	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2416G>T	15.37:g.65994657C>A	ENSP00000396830:p.Asp806Tyr		63781711	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788839	0.70337	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05258	3.47;3.49	5.49	5.49	0.81192	.	0.101162	0.64402	D	0.000002	T	0.19967	0.0480	L	0.48642	1.525	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.66196	0.926;0.942	T	0.00096	-1.2074	10	0.59425	D	0.04	.	19.3483	0.94374	0.0:1.0:0.0:0.0	.	806;806	E7EPL3;Q7Z401	.;MYCPP_HUMAN	Y	806	ENSP00000391167:D806Y;ENSP00000396830:D806Y	ENSP00000396830:D806Y	D	-	1	0	DENND4A	63781711	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.676000	0.61627	2.577000	0.86979	0.585000	0.79938	GAT		0.388	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
IL16	3603	hgsc.bcm.edu	37	15	81595964	81595964	+	Silent	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr15:81595964A>G	ENST00000302987.4	+	15	3393	c.3393A>G	c.(3391-3393)ggA>ggG	p.G1131G	IL16_ENST00000394652.2_Silent_p.G430G|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Silent_p.G1131G			Q14005	IL16_HUMAN	interleukin 16	1131	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCAGGAGGAGCAGATCTAG	0.517																																																	0			15											170.0	152.0	158.0					15																	81595964		2203	4300	6503	79383019	SO:0001819	synonymous_variant	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3393A>G	15.37:g.81595964A>G			79383019	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																				0.517	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
FAM47A	158724	hgsc.bcm.edu	37	X	34148377	34148377	+	Missense_Mutation	SNP	T	T	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chrX:34148377T>G	ENST00000346193.3	-	1	2070	c.2019A>C	c.(2017-2019)aaA>aaC	p.K673N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	673										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGCCCCAGTATTTTTCCTGTG	0.433																																																	0			X											84.0	84.0	84.0					X																	34148377		2199	4296	6495	34058298	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2019A>C	X.37:g.34148377T>G	ENSP00000345029:p.Lys673Asn		34058298	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	T	6.898	0.535141	0.13188	.	.	ENSG00000185448	ENST00000346193	T	0.41758	0.99	1.49	0.148	0.14843	.	.	.	.	.	T	0.30696	0.0773	M	0.63428	1.95	0.09310	N	1	P	0.47253	0.892	B	0.37304	0.246	T	0.17592	-1.0364	9	0.25751	T	0.34	.	4.0088	0.09613	0.0:0.0:0.3786:0.6214	.	673	Q5JRC9	FA47A_HUMAN	N	673	ENSP00000345029:K673N	ENSP00000345029:K673N	K	-	3	2	FAM47A	34058298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.405000	0.07196	-0.007000	0.14345	0.441000	0.28932	AAA		0.433	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
UBA1	7317	hgsc.bcm.edu	37	X	47069380	47069380	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chrX:47069380A>G	ENST00000335972.6	+	18	2240	c.2057A>G	c.(2056-2058)gAg>gGg	p.E686G	UBA1_ENST00000377351.4_Missense_Mutation_p.E686G|UBA1_ENST00000377269.3_Missense_Mutation_p.E134G	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	686					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGCCCTTGGAGGTGCTGGAG	0.612																																																	0			X											64.0	60.0	62.0					X																	47069380		2202	4300	6502	46954324	SO:0001583	missense	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2057A>G	X.37:g.47069380A>G	ENSP00000338413:p.Glu686Gly		46954324	Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793156	0.50102	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.45276	0.9;0.9;0.9	4.5	4.5	0.54988	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.114984	0.64402	D	0.000016	T	0.44138	0.1279	L	0.56769	1.78	0.58432	D	0.999999	P;D	0.58620	0.794;0.983	B;P	0.48189	0.273;0.57	T	0.35943	-0.9768	10	0.35671	T	0.21	-27.4606	10.6844	0.45835	1.0:0.0:0.0:0.0	.	134;686	Q5JRR6;P22314	.;UBA1_HUMAN	G	686;686;134	ENSP00000366568:E686G;ENSP00000338413:E686G;ENSP00000366481:E134G	ENSP00000338413:E686G	E	+	2	0	UBA1	46954324	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	6.760000	0.74939	1.791000	0.52520	0.430000	0.28490	GAG		0.612	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	
SHROOM4	57477	hgsc.bcm.edu	37	X	50377223	50377223	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chrX:50377223T>C	ENST00000289292.7	-	4	2133	c.1850A>G	c.(1849-1851)aAg>aGg	p.K617R	SHROOM4_ENST00000460112.3_Missense_Mutation_p.K501R|SHROOM4_ENST00000376020.2_Missense_Mutation_p.K617R			Q9ULL8	SHRM4_HUMAN	shroom family member 4	617					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CACTGGCTCCTTAGTGTCACA	0.507																																																	0			X											49.0	50.0	50.0					X																	50377223		2203	4300	6503	50393963	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1850A>G	X.37:g.50377223T>C	ENSP00000289292:p.Lys617Arg		50393963	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	T	5.769	0.326227	0.10900	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88818	-2.43;-2.43;-2.43	6.06	4.89	0.63831	.	0.430862	0.24233	N	0.040330	D	0.83825	0.5338	L	0.51422	1.61	0.24462	N	0.994432	B	0.28713	0.22	B	0.25140	0.058	T	0.70124	-0.4958	10	0.23891	T	0.37	.	10.1172	0.42598	0.0:0.0798:0.0:0.9202	.	617	Q9ULL8	SHRM4_HUMAN	R	617;617;501	ENSP00000289292:K617R;ENSP00000365188:K617R;ENSP00000421450:K501R	ENSP00000289292:K617R	K	-	2	0	SHROOM4	50393963	1.000000	0.71417	0.965000	0.40720	0.569000	0.35902	7.100000	0.76989	0.893000	0.36288	0.486000	0.48141	AAG		0.507	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
MTMR8	55613	hgsc.bcm.edu	37	X	63557191	63557191	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chrX:63557191C>T	ENST00000374852.3	-	9	1125	c.1058G>A	c.(1057-1059)aGc>aAc	p.S353N	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.S353N	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	353	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TAGGAGGATGCTAGCCACTGA	0.443																																																	1	Whole gene deletion(1)	ovary(1)	X											99.0	75.0	83.0					X																	63557191		2203	4300	6503	63473916	SO:0001583	missense	66036			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1058G>A	X.37:g.63557191C>T	ENSP00000363985:p.Ser353Asn		63473916	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771651	0.49680	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	D;D	0.90133	-2.62;-2.62	2.66	2.66	0.31614	Myotubularin phosphatase domain (1);	0.096905	0.41823	U	0.000817	D	0.91821	0.7412	L	0.49571	1.57	0.28043	N	0.933651	P;D	0.61697	0.77;0.99	B;P	0.61800	0.216;0.894	D	0.86171	0.1600	10	0.59425	D	0.04	.	11.839	0.52342	0.0:1.0:0.0:0.0	.	353;353	B4DQL0;Q96EF0	.;MTMR8_HUMAN	N	353;353;239	ENSP00000394003:S353N;ENSP00000363985:S353N	ENSP00000247400:S239N	S	-	2	0	MTMR8	63473916	0.911000	0.30947	1.000000	0.80357	0.971000	0.66376	1.834000	0.39171	1.361000	0.45981	0.600000	0.82982	AGC		0.443	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
COL4A5	1287	hgsc.bcm.edu	37	X	107911595	107911595	+	Silent	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chrX:107911595C>T	ENST00000361603.2	+	41	3895	c.3651C>T	c.(3649-3651)ggC>ggT	p.G1217G	COL4A5_ENST00000328300.6_Silent_p.G1217G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1217	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G1217G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAATCCTGGCCTTCCAGGTC	0.512									Alport syndrome with Diffuse Leiomyomatosis																																								1	Substitution - coding silent(1)	lung(1)	X											61.0	56.0	58.0					X																	107911595		2203	4300	6503	107798251	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3651C>T	X.37:g.107911595C>T			107798251	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1																																																																																				0.512	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
CDR1	1038	hgsc.bcm.edu	37	X	139866524	139866524	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chrX:139866524C>A	ENST00000370532.2	-	1	199	c.8G>T	c.(7-9)tGg>tTg	p.W3L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	3	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GTCTTCCAACCAAGCCATGTC	0.428													C|||	45	0.0119205	0.0045	0.0101	3775	,	,		18061	0.0179		0.0139	False		,,,				2504	0.0																0			X											131.0	134.0	133.0					X																	139866524		2202	4299	6501	139694190	SO:0001583	missense	1038				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.8G>T	X.37:g.139866524C>A	ENSP00000359563:p.Trp3Leu		139694190	Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	7.642	0.681130	0.14907	.	.	ENSG00000184258	ENST00000370532	T	0.28666	1.6	4.24	-4.03	0.04021	.	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29488	-1.0010	8	.	.	.	.	1.2552	0.01990	0.2147:0.2808:0.0981:0.4064	.	3	P51861	CDR1_HUMAN	L	3	ENSP00000359563:W3L	.	W	-	2	0	CDR1	139694190	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.420000	0.07062	-0.546000	0.06216	-1.390000	0.01156	TGG		0.428	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065	
SLC2A9	56606	hgsc.bcm.edu	37	4	9836573	9836573	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr4:9836573A>G	ENST00000264784.3	-	11	1404	c.1351T>C	c.(1351-1353)Ttc>Ctc	p.F451L	SLC2A9_ENST00000309065.3_Missense_Mutation_p.F422L|SLC2A9_ENST00000506583.1_Missense_Mutation_p.F422L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	451					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GCAATGATGAAGGCAGCCGGC	0.527																																																	0			4											74.0	66.0	69.0					4																	9836573		2203	4300	6503	9445671	SO:0001583	missense	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1351T>C	4.37:g.9836573A>G	ENSP00000264784:p.Phe451Leu		9445671	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833881	0.71258	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.44083	0.93;0.93;0.93	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.64567	1.98	0.42479	D	0.992856	P;P	0.46578	0.498;0.88	B;P	0.56865	0.253;0.808	T	0.60131	-0.7323	10	0.62326	D	0.03	.	13.1238	0.59342	1.0:0.0:0.0:0.0	.	422;451	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	L	422;451;422	ENSP00000422209:F422L;ENSP00000264784:F451L;ENSP00000311383:F422L	ENSP00000264784:F451L	F	-	1	0	SLC2A9	9445671	1.000000	0.71417	0.794000	0.32065	0.079000	0.17450	8.502000	0.90505	1.982000	0.57802	0.477000	0.44152	TTC		0.527	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153332662	153332662	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr4:153332662T>C	ENST00000281708.4	-	2	1523	c.294A>G	c.(292-294)caA>caG	p.Q98Q	FBXW7_ENST00000604872.1_Silent_p.Q98Q|FBXW7_ENST00000603841.1_Silent_p.Q98Q|FBXW7_ENST00000603548.1_Silent_p.Q98Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	98					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CATCTTCCTCTTGTTCTTCTT	0.443			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	0			4											277.0	241.0	253.0					4																	153332662		2203	4300	6503	153552112	SO:0001819	synonymous_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.294A>G	4.37:g.153332662T>C			153552112	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.443	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
NBAS	51594	hgsc.bcm.edu	37	2	15307424	15307424	+	Missense_Mutation	SNP	T	T	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:15307424T>A	ENST00000281513.5	-	52	6889	c.6864A>T	c.(6862-6864)caA>caT	p.Q2288H	NBAS_ENST00000441750.1_Missense_Mutation_p.Q2168H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2288					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAAGAAGTTCTTGGTCACAAT	0.527																																																	0			2											65.0	58.0	60.0					2																	15307424		2203	4300	6503	15224875	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6864A>T	2.37:g.15307424T>A	ENSP00000281513:p.Gln2288His		15224875	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.15|10.15	1.272018|1.272018	0.23221|0.23221	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513;ENST00000433283	.|T;T	.|0.33438	.|1.41;1.41	5.46|5.46	-10.9|-10.9	0.00192|0.00192	.|.	.|0.635313	.|0.15818	.|N	.|0.243144	T|T	0.34483|0.34483	0.0899|0.0899	L|L	0.47716|0.47716	1.5|1.5	0.20074|0.20074	N|N	0.999935|0.999935	.|D;P	.|0.69078	.|0.997;0.878	.|P;B	.|0.58820	.|0.846;0.192	T|T	0.68823|0.68823	-0.5307|-0.5307	5|10	.|0.87932	.|D	.|0	.|.	14.2516|14.2516	0.66023|0.66023	0.1654:0.5816:0.0:0.253|0.1654:0.5816:0.0:0.253	.|.	.|2168;2288	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	M|H	1336|2168;2288;101	.|ENSP00000413201:Q2168H;ENSP00000281513:Q2288H	.|ENSP00000281513:Q2288H	K|Q	-|-	2|3	0|2	NBAS|NBAS	15224875|15224875	0.024000|0.024000	0.19004|0.19004	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.778000|-0.778000	0.04664|0.04664	-3.101000|-3.101000	0.00244|0.00244	-1.139000|-1.139000	0.01908|0.01908	AAG|CAA		0.527	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
DNAH6	1768	hgsc.bcm.edu	37	2	84771470	84771470	+	Missense_Mutation	SNP	A	A	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:84771470A>T	ENST00000237449.6	+	4	784	c.776A>T	c.(775-777)cAg>cTg	p.Q259L	DNAH6_ENST00000398278.2_Missense_Mutation_p.Q259L|DNAH6_ENST00000389394.3_Missense_Mutation_p.Q259L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	259	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CGATGGGAACAGGAATATCTG	0.368																																																	0			2											78.0	64.0	68.0					2																	84771470		692	1590	2282	84624981	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.776A>T	2.37:g.84771470A>T	ENSP00000237449:p.Gln259Leu		84624981	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306399	0.60305	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25250	1.81;1.95;1.81	5.46	5.46	0.80206	.	.	.	.	.	T	0.25306	0.0615	L	0.49126	1.545	0.40308	D	0.978682	B	0.16166	0.016	B	0.12156	0.007	T	0.04930	-1.0917	8	.	.	.	.	14.8016	0.69922	1.0:0.0:0.0:0.0	.	259	Q9C0G6	DYH6_HUMAN	L	259	ENSP00000374045:Q259L;ENSP00000381326:Q259L;ENSP00000237449:Q259L	.	Q	+	2	0	DNAH6	84624981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.621000	0.74228	2.185000	0.69588	0.482000	0.46254	CAG		0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
CNGA3	1261	hgsc.bcm.edu	37	2	98996745	98996745	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:98996745A>G	ENST00000272602.2	+	3	362	c.323A>G	c.(322-324)aAg>aGg	p.K108R	CNGA3_ENST00000409937.1_Missense_Mutation_p.K112R|CNGA3_ENST00000393504.1_Missense_Mutation_p.K108R|CNGA3_ENST00000436404.2_Missense_Mutation_p.K108R			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	108					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCCGAGCTTAAGGAGGTGTCC	0.587																																																	0			2											72.0	68.0	69.0					2																	98996745		2203	4300	6503	98363177	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.323A>G	2.37:g.98996745A>G	ENSP00000272602:p.Lys108Arg		98363177	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	A	9.791	1.177876	0.21787	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.28	2.91	0.33838	.	0.269175	0.41294	N	0.000919	T	0.37945	0.1022	M	0.64567	1.98	0.30327	N	0.787032	P;B;B	0.36086	0.536;0.44;0.001	B;B;B	0.30646	0.079;0.118;0.006	T	0.33879	-0.9851	10	0.32370	T	0.25	.	7.6602	0.28398	0.8302:0.0:0.1698:0.0	.	112;108;108	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	R	108;108;108;112	ENSP00000377140:K108R;ENSP00000410070:K108R;ENSP00000272602:K108R;ENSP00000386761:K112R	ENSP00000272602:K108R	K	+	2	0	CNGA3	98363177	1.000000	0.71417	0.983000	0.44433	0.050000	0.14768	2.204000	0.42761	0.471000	0.27319	-0.256000	0.11100	AAG		0.587	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	
SCN3A	6328	hgsc.bcm.edu	37	2	165986523	165986523	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:165986523T>C	ENST00000360093.3	-	17	3340	c.2849A>G	c.(2848-2850)gAc>gGc	p.D950G	SCN3A_ENST00000283254.7_Missense_Mutation_p.D950G|SCN3A_ENST00000409101.3_Missense_Mutation_p.D901G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	950					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCATACAGTCCCACATGGT	0.483																																																	0			2											181.0	173.0	175.0					2																	165986523		2203	4300	6503	165694769	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2849A>G	2.37:g.165986523T>C	ENSP00000353206:p.Asp950Gly		165694769	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	17.19	3.325377	0.60743	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000009	D	0.98372	0.9459	M	0.68728	2.09	0.80722	D	1	D;D;D;D;D	0.89917	0.971;0.991;0.988;0.988;1.0	D;P;P;P;D	0.97110	0.918;0.904;0.844;0.844;1.0	D	0.99620	1.0983	10	0.66056	D	0.02	.	15.5759	0.76387	0.0:0.0:0.0:1.0	.	950;901;901;901;950	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	G	950;950;901;901	ENSP00000353206:D950G;ENSP00000283254:D950G;ENSP00000386726:D901G;ENSP00000403348:D901G	ENSP00000283254:D950G	D	-	2	0	SCN3A	165694769	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.073000	0.62155	0.460000	0.39030	GAC		0.483	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN9A	6335	hgsc.bcm.edu	37	2	167133566	167133566	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:167133566T>C	ENST00000409435.1	-	15	2800	c.2801A>G	c.(2800-2802)gAc>gGc	p.D934G	SCN9A_ENST00000375387.4_Missense_Mutation_p.D935G|SCN9A_ENST00000303354.6_Missense_Mutation_p.D935G|SCN9A_ENST00000409672.1_Missense_Mutation_p.D923G|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	934					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCATACAGTCCCACATGGT	0.488																																																	0			2											231.0	215.0	220.0					2																	167133566		2203	4300	6503	166841812	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2801A>G	2.37:g.167133566T>C	ENSP00000386330:p.Asp934Gly		166841812	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.426004	0.83667	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	D	0.98083	0.9368	L	0.60455	1.87	0.54753	D	0.999982	D	0.60575	0.988	D	0.63488	0.915	D	0.98945	1.0792	10	0.62326	D	0.03	.	16.175	0.81844	0.0:0.0:0.0:1.0	.	923	E7EUN6	.	G	923;935;935;934	ENSP00000386306:D923G;ENSP00000364536:D935G;ENSP00000304748:D935G;ENSP00000386330:D934G	ENSP00000304748:D935G	D	-	2	0	SCN9A	166841812	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.947000	0.87758	2.274000	0.75844	0.528000	0.53228	GAC		0.488	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
KLHL41	10324	hgsc.bcm.edu	37	2	170374710	170374710	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:170374710A>G	ENST00000284669.1	+	4	1464	c.1387A>G	c.(1387-1389)Aac>Gac	p.N463D	KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.N401D|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.N401D	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	463					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											AAAATGTACAAACAGGGTGTT	0.353																																																	0			2											61.0	59.0	60.0					2																	170374710		2203	4300	6503	170082956	SO:0001583	missense	10324			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1387A>G	2.37:g.170374710A>G	ENSP00000284669:p.Asn463Asp		170082956	Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850802	0.71719	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.79554	-1.28;-1.28;-1.28	5.82	5.82	0.92795	Kelch-type beta propeller (1);	0.129609	0.64402	D	0.000001	T	0.81254	0.4784	L	0.61036	1.89	0.44852	D	0.997868	P;B	0.35551	0.509;0.331	B;B	0.43103	0.4;0.408	T	0.81433	-0.0935	10	0.52906	T	0.07	.	10.8276	0.46643	0.9297:0.0:0.0703:0.0	.	401;463	E9PBE3;O60662	.;KBTBA_HUMAN	D	401;401;463	ENSP00000452313:N401D;ENSP00000424363:N401D;ENSP00000284669:N463D	ENSP00000284669:N463D	N	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170082956	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.521000	0.81832	2.364000	0.80123	0.524000	0.50904	AAC		0.353	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063	
GORASP2	26003	hgsc.bcm.edu	37	2	171822354	171822354	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:171822354T>C	ENST00000234160.4	+	10	1888	c.1073T>C	c.(1072-1074)cTc>cCc	p.L358P	GORASP2_ENST00000452526.2_Missense_Mutation_p.L370P|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	358	Pro-rich.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						ATTGCACCTCTCCCCCTGCCA	0.572																																																	0			2											186.0	137.0	154.0					2																	171822354		2203	4300	6503	171530600	SO:0001583	missense	26003				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.1073T>C	2.37:g.171822354T>C	ENSP00000234160:p.Leu358Pro		171530600	B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487884	0.64074	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.56611	0.54;0.45	5.85	5.85	0.93711	.	0.065917	0.64402	D	0.000008	T	0.42988	0.1227	L	0.41824	1.3	0.80722	D	1	B;B;B	0.25390	0.125;0.125;0.125	B;B;B	0.20184	0.028;0.028;0.028	T	0.30357	-0.9981	10	0.30854	T	0.27	-5.8666	12.0983	0.53767	0.0:0.0685:0.0:0.9315	.	314;370;358	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	P	358;370	ENSP00000234160:L358P;ENSP00000410208:L370P	ENSP00000234160:L358P	L	+	2	0	GORASP2	171530600	0.980000	0.34600	1.000000	0.80357	0.984000	0.73092	3.612000	0.54142	2.222000	0.72286	0.533000	0.62120	CTC		0.572	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2		
HOXD1	3231	hgsc.bcm.edu	37	2	177054788	177054788	+	Missense_Mutation	SNP	T	T	C	rs544403010	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:177054788T>C	ENST00000331462.4	+	2	1128	c.905T>C	c.(904-906)cTc>cCc	p.L302P	HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000436126.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	302					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GTGGCTCCCCTCCAACTTCCC	0.557													T|||	447	0.0892572	0.031	0.1066	5008	,	,		15245	0.2004		0.1272	False		,,,				2504	0.002																0			2											95.0	103.0	100.0					2																	177054788		2203	4300	6503	176763034	SO:0001583	missense	3231				CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.905T>C	2.37:g.177054788T>C	ENSP00000328598:p.Leu302Pro		176763034	B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	37	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	T	9.428	1.084673	0.20309	.	.	ENSG00000128645	ENST00000331462	D	0.90620	-2.7	5.66	5.66	0.87406	.	0.339551	0.21508	N	0.073420	D	0.84442	0.5473	L	0.27053	0.805	0.09310	N	0.999999	P;B	0.52842	0.956;0.083	P;B	0.44732	0.459;0.02	T	0.76642	-0.2884	10	0.30078	T	0.28	.	9.1882	0.37182	0.1619:0.0:0.0:0.8381	.	302;302	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	P	302	ENSP00000328598:L302P	ENSP00000328598:L302P	L	+	2	0	HOXD1	176763034	0.862000	0.29867	0.210000	0.23637	0.881000	0.50899	3.421000	0.52742	2.143000	0.66587	0.533000	0.62120	CTC		0.557	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2		
DNAH7	56171	hgsc.bcm.edu	37	2	196718135	196718135	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:196718135T>C	ENST00000312428.6	-	46	8813	c.8713A>G	c.(8713-8715)Act>Gct	p.T2905A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2905					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATATCCCCAGTCAAGTTGATG	0.502																																																	0			2											119.0	117.0	118.0					2																	196718135		2000	4181	6181	196426380	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8713A>G	2.37:g.196718135T>C	ENSP00000311273:p.Thr2905Ala		196426380	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.166154	0.57476	.	.	ENSG00000118997	ENST00000312428	T	0.73469	-0.75	5.55	5.55	0.83447	Dynein heavy chain, coiled coil stalk (1);	0.055612	0.64402	D	0.000001	D	0.83709	0.5313	M	0.82433	2.59	0.80722	D	1	P	0.51791	0.948	P	0.56648	0.803	T	0.82436	-0.0458	10	0.24483	T	0.36	.	15.8615	0.79026	0.0:0.0:0.0:1.0	.	2905	Q8WXX0	DYH7_HUMAN	A	2905	ENSP00000311273:T2905A	ENSP00000311273:T2905A	T	-	1	0	DNAH7	196426380	1.000000	0.71417	0.998000	0.56505	0.096000	0.18686	7.793000	0.85851	2.333000	0.79357	0.533000	0.62120	ACT		0.502	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
ABI2	10152	hgsc.bcm.edu	37	2	204260401	204260401	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:204260401A>G	ENST00000422511.2	+	7	779	c.748A>G	c.(748-750)Agc>Ggc	p.S250G	RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261017.5_Missense_Mutation_p.S244G|ABI2_ENST00000430418.1_Missense_Mutation_p.S195G|ABI2_ENST00000424558.1_Missense_Mutation_p.S244G|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000295851.5_Missense_Mutation_p.S250G|ABI2_ENST00000261016.6_Missense_Mutation_p.S199G|ABI2_ENST00000261018.7_Missense_Mutation_p.S36G			Q9NYB9	ABI2_HUMAN	abl-interactor 2	250	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TAGTGGAGGGAGCCACCCAAG	0.483																																																	0			2											171.0	149.0	157.0					2																	204260401		2203	4300	6503	203968646	SO:0001583	missense	10152			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.748A>G	2.37:g.204260401A>G	ENSP00000396249:p.Ser250Gly		203968646	B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37		.	.	.	.	.	.	.	.	.	.	A	21.8	4.206513	0.79127	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018	T;T;T;T;T;T;T;T	0.55930	1.13;1.11;1.27;1.12;0.97;1.38;1.07;0.49	5.81	5.81	0.92471	.	0.111038	0.85682	D	0.000000	T	0.69033	0.3066	L	0.56769	1.78	0.80722	D	1	P;P;P;D;P;P;D;P;P	0.61080	0.924;0.924;0.805;0.989;0.954;0.924;0.982;0.924;0.725	P;P;P;D;D;P;D;P;P	0.74348	0.827;0.827;0.827;0.983;0.916;0.827;0.961;0.827;0.452	T	0.69168	-0.5216	10	0.48119	T	0.1	-3.4351	16.1713	0.81820	1.0:0.0:0.0:0.0	.	36;85;36;188;244;195;199;250;244	B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;.;.;.;.;ABI2_HUMAN;.	G	250;244;195;244;199;250;250;36	ENSP00000295851:S250G;ENSP00000261017:S244G;ENSP00000408898:S195G;ENSP00000391433:S244G;ENSP00000261016:S199G;ENSP00000414703:S250G;ENSP00000396249:S250G;ENSP00000261018:S36G	ENSP00000261016:S199G	S	+	1	0	ABI2	203968646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.723000	0.91458	2.221000	0.72209	0.528000	0.53228	AGC		0.483	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759	
OBSL1	23363	hgsc.bcm.edu	37	2	220423001	220423001	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:220423001C>T	ENST00000404537.1	-	10	3463	c.3407G>A	c.(3406-3408)cGc>cAc	p.R1136H	OBSL1_ENST00000265317.5_Missense_Mutation_p.R127H|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1136H|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1136H|OBSL1_ENST00000265318.4_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1136	Ig-like 9.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGTCAGGGTGCGGGTGGGCCC	0.667																																																	0			2																																								220131245	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3407G>A	2.37:g.220423001C>T	ENSP00000385636:p.Arg1136His		220131245	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.78|16.78	3.217616|3.217616	0.58560|0.58560	.|.	.|.	ENSG00000124006|ENSG00000124006	ENST00000456147|ENST00000404537;ENST00000373876;ENST00000265317	.|T;T;T	.|0.66280	.|-0.2;-0.2;-0.2	4.47|4.47	4.47|4.47	0.54385|0.54385	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.54663|0.54663	0.1872|0.1872	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.45396	.|0.857;0.583;0.603	.|B;B;B	.|0.43251	.|0.326;0.394;0.413	T|T	0.51576|0.51576	-0.8688|-0.8688	5|9	.|0.17832	.|T	.|0.49	.|.	17.3271|17.3271	0.87252|0.87252	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1137;1136;127	.|A4KVA4;O75147;E7ER99	.|.;OBSL1_HUMAN;.	T|H	130|1136;1136;127	.|ENSP00000385636:R1136H;ENSP00000362983:R1136H;ENSP00000265317:R127H	.|ENSP00000265317:R127H	A|R	-|-	1|2	0|0	OBSL1|OBSL1	220131245|220131245	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.658000|0.658000	0.38924|0.38924	4.520000|4.520000	0.60524|0.60524	2.322000|2.322000	0.78497|0.78497	0.313000|0.313000	0.20887|0.20887	GCA|CGC		0.667	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
SPATA3	130560	hgsc.bcm.edu	37	2	231861056	231861056	+	Silent	SNP	A	A	C	rs72362780		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:231861056A>C	ENST00000452881.1	+	1	216	c.108A>C	c.(106-108)acA>acC	p.T36T	SPATA3_ENST00000433428.2_Silent_p.T36T|SPATA3_ENST00000424440.1_Silent_p.T36T|SPATA3_ENST00000455816.1_Silent_p.T36T|AC105344.2_ENST00000414876.1_lincRNA			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	36										endometrium(2)|lung(1)	3						CTGAATCCACACCACAGCAGC	0.577																																																	0			2											133.0	139.0	137.0					2																	231861056		692	1591	2283	231569300	SO:0001819	synonymous_variant	130560			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.108A>C	2.37:g.231861056A>C			231569300	Q86WX5|Q8N9Y6	Silent	SNP	ENST00000452881.1	37	CCDS2481.1																																																																																				0.577	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
AGAP1	116987	hgsc.bcm.edu	37	2	237029022	237029022	+	Silent	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:237029022A>G	ENST00000304032.8	+	17	2881	c.2301A>G	c.(2299-2301)ggA>ggG	p.G767G	AGAP1_ENST00000336665.5_Silent_p.G714G|AGAP1_ENST00000409538.1_Silent_p.G979G|AGAP1_ENST00000428334.2_Silent_p.G606G	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	767					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCGGGGAGGGAGACGGCCGCA	0.711																																																	0			2											39.0	43.0	42.0					2																	237029022		2194	4282	6476	236693761	SO:0001819	synonymous_variant	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.2301A>G	2.37:g.237029022A>G			236693761	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	A	8.425	0.847395	0.17034	.	.	ENSG00000157985	ENST00000453371	.	.	.	4.61	-9.23	0.00672	.	.	.	.	.	T	0.46927	0.1418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59841	-0.7378	4	.	.	.	.	7.8321	0.29349	0.3675:0.1327:0.4434:0.0563	.	.	.	.	G	169	.	.	R	+	1	2	AGAP1	236693761	0.000000	0.05858	0.075000	0.20258	0.881000	0.50899	-6.347000	0.00069	-3.755000	0.00111	-0.425000	0.05940	AGA		0.711	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
C2orf54	79919	hgsc.bcm.edu	37	2	241827798	241827798	+	Missense_Mutation	SNP	T	T	C	rs11899555	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:241827798T>C	ENST00000388934.4	-	4	1320	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V	C2orf54_ENST00000307486.8_Missense_Mutation_p.I239V|C2orf54_ENST00000402775.2_Missense_Mutation_p.I220V	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	388										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCGGAGCCGATGCGCGGCGGG	0.711													T|||	1192	0.238019	0.5356	0.0994	5008	,	,		10641	0.1766		0.0954	False		,,,				2504	0.1442																0			2						T	VAL/ILE,VAL/ILE	1174,2058		185,804,627	4.0	5.0	5.0		1162,658	-5.4	0.0	2	dbSNP_120	5	504,6652		22,460,3096	yes	missense,missense	C2orf54	NM_001085437.1,NM_024861.2	29,29	207,1264,3723	CC,CT,TT		7.043,36.3243,16.1533	benign,benign	388/448,220/280	241827798	1678,8710	1616	3578	5194	241476471	SO:0001583	missense	79919			AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.1162A>G	2.37:g.241827798T>C	ENSP00000373586:p.Ile388Val		241476471	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	CCDS42839.1	443	0.20283882783882784	254	0.516260162601626	34	0.09392265193370165	81	0.14160839160839161	74	0.09762532981530343	T	4.846	0.157297	0.09236	0.363243	0.07043	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.42900	0.96;1.52;1.54	4.61	-5.43	0.02632	.	0.927650	0.08993	N	0.864092	T	0.00012	0.0000	N	0.17082	0.46	0.80722	P	0.0	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.48186	-0.9057	9	0.87932	D	0	0.0087	6.4354	0.21821	0.0:0.3174:0.3681:0.3145	rs11899555	388;239;220	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	V	220;239;388	ENSP00000385338:I220V;ENSP00000302779:I239V;ENSP00000373586:I388V	ENSP00000302779:I239V	I	-	1	0	C2orf54	241476471	0.000000	0.05858	0.013000	0.15412	0.076000	0.17211	-0.609000	0.05635	-0.841000	0.04200	0.477000	0.44152	ATC		0.711	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437	
UHRF2	115426	hgsc.bcm.edu	37	9	6504639	6504639	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr9:6504639A>G	ENST00000276893.5	+	15	2378	c.2210A>G	c.(2209-2211)cAg>cGg	p.Q737R	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	737					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GTTTGCTGTCAGGAGCTAGTT	0.383																																																	0			9											95.0	87.0	90.0					9																	6504639		2203	4300	6503	6494639	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.2210A>G	9.37:g.6504639A>G	ENSP00000276893:p.Gln737Arg		6494639	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563252	0.86335	.	.	ENSG00000147854	ENST00000276893	T	0.76316	-1.01	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	L	0.48218	1.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83707	0.0185	10	0.39692	T	0.17	-9.2324	16.1667	0.81768	1.0:0.0:0.0:0.0	.	737	Q96PU4	UHRF2_HUMAN	R	737	ENSP00000276893:Q737R	ENSP00000276893:Q737R	Q	+	2	0	UHRF2	6494639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.210000	0.71456	0.533000	0.62120	CAG		0.383	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306	
TAF1L	138474	hgsc.bcm.edu	37	9	32632961	32632961	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr9:32632961G>A	ENST00000242310.4	-	1	2706	c.2617C>T	c.(2617-2619)Cgc>Tgc	p.R873C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	873					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCCCTGTGCGTTTGAAGTCA	0.483																																																	0			9											147.0	147.0	147.0					9																	32632961		2203	4300	6503	32622961	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2617C>T	9.37:g.32632961G>A	ENSP00000418379:p.Arg873Cys		32622961	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548593	0.45383	.	.	ENSG00000122728	ENST00000242310	T	0.20332	2.08	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55231	-0.8173	10	0.87932	D	0	.	7.8312	0.29344	0.0:0.0:1.0:0.0	.	873	Q8IZX4	TAF1L_HUMAN	C	873	ENSP00000418379:R873C	ENSP00000418379:R873C	R	-	1	0	TAF1L	32622961	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	6.138000	0.71717	0.632000	0.30432	0.195000	0.17529	CGC		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
PTCH1	5727	hgsc.bcm.edu	37	9	98239899	98239899	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr9:98239899G>A	ENST00000331920.6	-	10	1732	c.1433C>T	c.(1432-1434)gCa>gTa	p.A478V	PTCH1_ENST00000429896.2_Missense_Mutation_p.A327V|PTCH1_ENST00000375274.2_Missense_Mutation_p.A477V|PTCH1_ENST00000430669.2_Missense_Mutation_p.A412V|PTCH1_ENST00000437951.1_Missense_Mutation_p.A412V|PTCH1_ENST00000421141.1_Missense_Mutation_p.A327V|PTCH1_ENST00000418258.1_Missense_Mutation_p.A327V|PTCH1_ENST00000548379.1_5'Flank	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	478	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.A478V(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACTGACAGTGCAACCAGCAG	0.567																																																	1	Substitution - Missense(1)	skin(1)	9											45.0	46.0	46.0					9																	98239899		2203	4300	6503	97279720	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1433C>T	9.37:g.98239899G>A	ENSP00000332353:p.Ala478Val		97279720	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259524	0.95368	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	5.06	5.06	0.68205	Sterol-sensing domain (1);	0.051243	0.85682	D	0.000000	D	0.90003	0.6879	M	0.65975	2.015	0.58432	D	0.999991	B;B;B	0.31274	0.317;0.199;0.201	B;B;B	0.36092	0.193;0.196;0.217	D	0.86942	0.2080	10	0.13470	T	0.59	-18.342	18.6256	0.91336	0.0:0.0:1.0:0.0	.	412;477;478	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	V	478;412;327;327;412;327;477	ENSP00000332353:A478V;ENSP00000389744:A412V;ENSP00000399981:A327V;ENSP00000396135:A327V;ENSP00000410287:A412V;ENSP00000414823:A327V;ENSP00000364423:A477V	ENSP00000332353:A478V	A	-	2	0	PTCH1	97279720	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	9.263000	0.95617	2.619000	0.88677	0.655000	0.94253	GCA		0.567	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
KIAA0368	23392	hgsc.bcm.edu	37	9	114184267	114184267	+	Silent	SNP	C	C	T	rs188300073		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr9:114184267C>T	ENST00000338205.5	-	14	1608	c.1389G>A	c.(1387-1389)gcG>gcA	p.A463A	KIAA0368_ENST00000259335.4_Silent_p.A641A			Q5VYK3	ECM29_HUMAN	KIAA0368	469					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AAGTACTATACGCTCCAACCA	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18813	0.0		0.0	False		,,,				2504	0.0																0			9						C		0,3772		0,0,1886	81.0	75.0	77.0		1923	-11.1	0.1	9		77	1,8229		0,1,4114	no	coding-synonymous	KIAA0368	NM_001080398.1		0,1,6000	TT,TC,CC		0.0122,0.0,0.0083		641/2018	114184267	1,12001	1886	4115	6001	113224088	SO:0001819	synonymous_variant	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1389G>A	9.37:g.114184267C>T			113224088	O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																					0.448	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
KCNT1	57582	hgsc.bcm.edu	37	9	138676638	138676638	+	Missense_Mutation	SNP	G	G	A	rs373365707		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr9:138676638G>A	ENST00000263604.3	+	27	3002	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	KCNT1_ENST00000371757.2_Missense_Mutation_p.R1020H|KCNT1_ENST00000488444.2_Missense_Mutation_p.R1001H|KCNT1_ENST00000486577.2_Missense_Mutation_p.R979H|KCNT1_ENST00000490355.2_Missense_Mutation_p.R999H|KCNT1_ENST00000487664.1_Missense_Mutation_p.R975H|KCNT1_ENST00000491806.2_Missense_Mutation_p.R987H|KCNT1_ENST00000298480.5_Missense_Mutation_p.R1020H			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1001					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGTGGATCCGCACGTACGGC	0.627																																																	0			9						G	HIS/ARG	0,4406		0,0,2203	67.0	71.0	70.0		3059	3.3	1.0	9		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNT1	NM_020822.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1020/1236	138676638	1,13005	2203	4300	6503	137816459	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.3002G>A	9.37:g.138676638G>A	ENSP00000263604:p.Arg1001His		137816459	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	G	17.81	3.480466	0.63849	0.0	1.16E-4	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	4.19	3.29	0.37713	.	0.000000	0.85682	U	0.000000	T	0.75102	0.3804	M	0.79475	2.455	0.54753	D	0.999986	B;B;B;B	0.32507	0.218;0.373;0.325;0.373	B;B;B;B	0.26770	0.049;0.066;0.073;0.066	T	0.75130	-0.3426	10	0.72032	D	0.01	-6.0464	11.8036	0.52141	0.088:0.0:0.912:0.0	.	987;1020;975;1001	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	H	975;1020;1020;979;987;1001;999;1001	ENSP00000417851:R975H;ENSP00000298480:R1020H;ENSP00000360822:R1020H;ENSP00000263604:R1001H	ENSP00000263604:R1001H	R	+	2	0	KCNT1	137816459	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	7.357000	0.79456	0.743000	0.32719	0.462000	0.41574	CGC		0.627	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
GJA3	2700	hgsc.bcm.edu	37	13	20716415	20716415	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr13:20716415G>A	ENST00000241125.3	-	2	1189	c.1013C>T	c.(1012-1014)cCg>cTg	p.P338L		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	338					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CTTGAGCGCCGGGGGCTGCCG	0.736																																																	0			13																																								19614415	SO:0001583	missense	2700			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.1013C>T	13.37:g.20716415G>A	ENSP00000241125:p.Pro338Leu		19614415	Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	G	0.524	-0.860729	0.02610	.	.	ENSG00000121743	ENST00000241125	D	0.97328	-4.34	4.55	2.44	0.29823	.	1.073180	0.07262	U	0.867626	D	0.91613	0.7350	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.81814	-0.0760	10	0.18276	T	0.48	.	8.7203	0.34436	0.1167:0.0:0.7315:0.1518	.	338	Q9Y6H8	CXA3_HUMAN	L	338	ENSP00000241125:P338L	ENSP00000241125:P338L	P	-	2	0	GJA3	19614415	0.221000	0.23642	0.000000	0.03702	0.000000	0.00434	1.425000	0.34859	0.369000	0.24510	-2.067000	0.00394	CCG		0.736	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954	
TBC1D4	9882	hgsc.bcm.edu	37	13	76055525	76055525	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr13:76055525A>G	ENST00000377636.3	-	1	725	c.379T>C	c.(379-381)Tcg>Ccg	p.S127P	TBC1D4_ENST00000377625.2_Missense_Mutation_p.S127P|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S127P|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	127	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATGAAGCGCGAGATATGCTGC	0.662																																																	0			13											93.0	111.0	105.0					13																	76055525		2163	4277	6440	74953526	SO:0001583	missense	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.379T>C	13.37:g.76055525A>G	ENSP00000366863:p.Ser127Pro		74953526	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743823	0.69418	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.33216	1.42;1.42;1.42	4.16	1.51	0.23008	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.322546	0.20924	N	0.083230	T	0.43366	0.1244	L	0.44542	1.39	0.80722	D	1	P;D;D	0.76494	0.951;0.999;0.999	P;D;D	0.72338	0.786;0.943;0.977	T	0.11717	-1.0576	10	0.45353	T	0.12	-2.0935	11.9444	0.52920	0.4735:0.5265:0.0:0.0	.	127;127;127	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	P	127	ENSP00000366863:S127P;ENSP00000395986:S127P;ENSP00000366852:S127P	ENSP00000366852:S127P	S	-	1	0	TBC1D4	74953526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.475000	0.53136	0.128000	0.18479	0.459000	0.35465	TCG		0.662	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
LIG4	3981	hgsc.bcm.edu	37	13	108863441	108863441	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr13:108863441T>C	ENST00000356922.4	-	2	448	c.176A>G	c.(175-177)gAt>gGt	p.D59G	LIG4_ENST00000442234.1_Missense_Mutation_p.D59G|LIG4_ENST00000405925.1_Missense_Mutation_p.D59G	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	59					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GTCTGTGACATCTTTGTGGTT	0.358								Non-homologous end-joining																																									0			13											87.0	90.0	89.0					13																	108863441		2203	4300	6503	107661442	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.176A>G	13.37:g.108863441T>C	ENSP00000349393:p.Asp59Gly		107661442	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	4.549	0.101978	0.08731	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.23552	1.9;1.9;1.9	6.05	2.4	0.29515	DNA ligase, ATP-dependent, N-terminal (3);	0.537818	0.21212	N	0.078291	T	0.18087	0.0434	L	0.35793	1.09	0.09310	N	0.999993	B	0.10296	0.003	B	0.18871	0.023	T	0.14559	-1.0468	10	0.38643	T	0.18	.	7.3014	0.26422	0.0:0.1129:0.1296:0.7575	.	59	P49917	DNLI4_HUMAN	G	59	ENSP00000385955:D59G;ENSP00000402030:D59G;ENSP00000349393:D59G	ENSP00000349393:D59G	D	-	2	0	LIG4	107661442	0.526000	0.26298	0.619000	0.29118	0.990000	0.78478	1.898000	0.39809	1.087000	0.41251	0.523000	0.50628	GAT		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312	
IL15RA	3601	hgsc.bcm.edu	37	10	6002514	6002514	+	Silent	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:6002514A>G	ENST00000379977.3	-	4	496	c.399T>C	c.(397-399)tcT>tcC	p.S133S	IL15RA_ENST00000528354.1_Silent_p.S100S|IL15RA_ENST00000525219.2_Silent_p.S97S|IL15RA_ENST00000397255.3_Silent_p.S133S|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000379971.1_Silent_p.S35S|IL15RA_ENST00000397248.2_Silent_p.S97S|IL15RA_ENST00000397250.2_Silent_p.S35S|IL15RA_ENST00000397251.3_Silent_p.S68S|IL15RA_ENST00000530685.1_Silent_p.S100S			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	133					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						TTGAGCTGGGAGATGAAGCTG	0.572																																																	0			10											107.0	94.0	99.0					10																	6002514		2203	4300	6503	6042520	SO:0001819	synonymous_variant	3601			U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.399T>C	10.37:g.6002514A>G			6042520	B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Silent	SNP	ENST00000379977.3	37	CCDS7074.1	.	.	.	.	.	.	.	.	.	.	A	2.449	-0.326725	0.05350	.	.	ENSG00000134470	ENST00000435171;ENST00000447291	.	.	.	4.19	1.62	0.23740	.	.	.	.	.	T	0.43612	0.1255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29549	-1.0008	4	.	.	.	-31.9931	2.2847	0.04124	0.6078:0.0:0.1496:0.2425	.	.	.	.	P	9;36	.	.	L	-	2	0	IL15RA	6042520	0.979000	0.34478	0.899000	0.35326	0.228000	0.25075	0.841000	0.27613	0.758000	0.33059	0.459000	0.35465	CTC		0.572	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189	
ARHGAP22	58504	hgsc.bcm.edu	37	10	49791110	49791110	+	Missense_Mutation	SNP	G	G	A	rs138838300	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:49791110G>A	ENST00000249601.4	-	2	418	c.122C>T	c.(121-123)gCg>gTg	p.A41V	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.A41V|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.A47V	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	41	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAGCCAGCCCGCCTTCAGCAC	0.607													G|||	11	0.00219649	0.0061	0.0	5008	,	,		22546	0.003		0.0	False		,,,				2504	0.0																0			10						G	VAL/ALA	19,4387	26.2+/-53.5	0,19,2184	141.0	140.0	141.0		122	4.4	1.0	10	dbSNP_134	141	0,8600		0,0,4300	yes	missense	ARHGAP22	NM_021226.2	64	0,19,6484	AA,AG,GG		0.0,0.4312,0.1461	benign	41/699	49791110	19,12987	2203	4300	6503	49461116	SO:0001583	missense	58504			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.122C>T	10.37:g.49791110G>A	ENSP00000249601:p.Ala41Val		49461116	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	10.42	1.345667	0.24426	0.004312	0.0	ENSG00000128805	ENST00000249601;ENST00000435790;ENST00000417912	T;T;T	0.30714	1.52;1.52;1.52	5.28	4.36	0.52297	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.170854	0.36134	N	0.002770	T	0.35189	0.0923	L	0.56124	1.755	0.30067	N	0.810405	B;P;D;P	0.56287	0.253;0.915;0.975;0.915	B;P;P;P	0.49953	0.073;0.627;0.482;0.627	T	0.25745	-1.0123	10	0.29301	T	0.29	.	10.2564	0.43399	0.0:0.1411:0.6981:0.1608	.	47;41;41;41	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3	.;.;.;RHG22_HUMAN	V	41;47;41	ENSP00000249601:A41V;ENSP00000416701:A47V;ENSP00000412461:A41V	ENSP00000249601:A41V	A	-	2	0	ARHGAP22	49461116	0.993000	0.37304	0.992000	0.48379	0.846000	0.48090	2.192000	0.42649	1.196000	0.43129	0.655000	0.94253	GCG		0.607	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
FAM13C	220965	hgsc.bcm.edu	37	10	61112139	61112139	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:61112139G>A	ENST00000373868.2	-	3	302	c.215C>T	c.(214-216)gCg>gTg	p.A72V	FAM13C_ENST00000277705.6_Missense_Mutation_p.A72V|FAM13C_ENST00000435852.2_Missense_Mutation_p.A72V|FAM13C_ENST00000419214.2_Missense_Mutation_p.A72V|FAM13C_ENST00000442566.3_Missense_Mutation_p.A72V|FAM13C_ENST00000422313.2_Missense_Mutation_p.A72V|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000373867.3_5'UTR	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	72										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGCACGGTCGCCTCTACATT	0.577																																																	0			10											47.0	49.0	48.0					10																	61112139		2203	4300	6503	60782145	SO:0001583	missense	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.215C>T	10.37:g.61112139G>A	ENSP00000362975:p.Ala72Val		60782145	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	6.331	0.429254	0.11987	.	.	ENSG00000148541	ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.93	0.743	0.18347	.	0.794133	0.11611	N	0.546791	T	0.40145	0.1105	N	0.08118	0	0.58432	D	0.999999	B;B;B	0.30526	0.0;0.283;0.0	B;B;B	0.23419	0.0;0.046;0.0	T	0.07947	-1.0746	10	0.37606	T	0.19	1.3955	13.692	0.62550	0.0:0.0:0.5363:0.4637	.	72;72;72	B7Z2K3;Q8NE31-3;Q8NE31	.;.;FA13C_HUMAN	V	72	ENSP00000362975:A72V;ENSP00000395661:A72V;ENSP00000277705:A72V;ENSP00000391993:A72V;ENSP00000392302:A72V;ENSP00000400241:A72V	ENSP00000277705:A72V	A	-	2	0	FAM13C	60782145	0.942000	0.31987	0.206000	0.23566	0.510000	0.34073	0.519000	0.22862	-0.097000	0.12307	-0.265000	0.10407	GCG		0.577	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
SEC24C	9632	hgsc.bcm.edu	37	10	75506596	75506596	+	Silent	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:75506596C>T	ENST00000339365.2	+	3	168	c.6C>T	c.(4-6)aaC>aaT	p.N2N	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_5'UTR|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.N2N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	2					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCATAATGAACGTCAACCAGT	0.483																																																	0			10											101.0	94.0	96.0					10																	75506596		2203	4300	6503	75176602	SO:0001819	synonymous_variant	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.6C>T	10.37:g.75506596C>T			75176602	B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	CCDS7332.1																																																																																				0.483	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		
KAT6B	23522	hgsc.bcm.edu	37	10	76781908	76781908	+	Silent	SNP	A	A	G	rs72074375|rs144154275|rs371512199|rs79644703|rs559824889|rs71929101	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:76781908A>G	ENST00000287239.4	+	16	3780	c.3291A>G	c.(3289-3291)gaA>gaG	p.E1097E	KAT6B_ENST00000372714.1_Silent_p.E805E|KAT6B_ENST00000372711.1_Silent_p.E914E|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Silent_p.E805E|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Silent_p.E805E|RP11-77G23.5_ENST00000436608.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1097	Poly-Glu.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E1097E(4)|p.E1097delE(1)									aagaagaggaagaagaagaag	0.443											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					5	Substitution - coding silent(4)|Deletion - In frame(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)	10											19.0	38.0	32.0					10																	76781908		2198	4300	6498	76451914	SO:0001819	synonymous_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3291A>G	10.37:g.76781908A>G		1170	76451914	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	37	CCDS7345.1																																																																																				0.443	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
LRIT2	340745	hgsc.bcm.edu	37	10	85984164	85984164	+	Nonsense_Mutation	SNP	G	G	A	rs139197166		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:85984164G>A	ENST00000372113.4	-	2	822	c.817C>T	c.(817-819)Cga>Tga	p.R273*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.R273*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	273	Ig-like.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCCAAGCATCGCAGGGTCACA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20625	0.0		0.0	False		,,,				2504	0.001																0			10											97.0	80.0	86.0					10																	85984164		2203	4300	6503	85974144	SO:0001587	stop_gained	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.817C>T	10.37:g.85984164G>A	ENSP00000361185:p.Arg273*		85974144	B7ZME6	Nonsense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686962	0.88639	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	.	.	.	5.44	-1.91	0.07641	.	0.556839	0.19341	N	0.116645	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9395	0.58335	0.0:0.0878:0.1425:0.7696	.	.	.	.	X	273	.	ENSP00000361185:R273X	R	-	1	2	LRIT2	85974144	0.033000	0.19621	0.411000	0.26484	0.991000	0.79684	0.360000	0.20250	-0.176000	0.10707	0.655000	0.94253	CGA		0.522	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697	
PTEN	5728	hgsc.bcm.edu	37	10	89693003	89693003	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:89693003A>G	ENST00000371953.3	+	5	1844	c.487A>G	c.(487-489)Aaa>Gaa	p.K163E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	163	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCAGAGACAAAAAGGTAAG	0.348		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	52	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Nonsense(2)	prostate(17)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	10											49.0	51.0	50.0					10																	89693003		2203	4300	6503	89682983	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.487A>G	10.37:g.89693003A>G	ENSP00000361021:p.Lys163Glu		89682983	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261981	0.39995	.	.	ENSG00000171862	ENST00000371953	D	0.98550	-4.99	5.09	5.09	0.68999	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.93851	0.8033	N	0.08118	0	0.80722	D	1	B	0.25007	0.116	B	0.28011	0.085	D	0.92015	0.5621	9	.	.	.	-10.3599	14.8682	0.70434	1.0:0.0:0.0:0.0	.	163	P60484	PTEN_HUMAN	E	163	ENSP00000361021:K163E	.	K	+	1	0	PTEN	89682983	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.918000	0.92759	1.898000	0.54952	0.460000	0.39030	AAA		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CPEB3	22849	hgsc.bcm.edu	37	10	93952314	93952314	+	Missense_Mutation	SNP	T	T	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:93952314T>G	ENST00000265997.4	-	3	1257	c.1085A>C	c.(1084-1086)gAa>gCa	p.E362A	CPEB3_ENST00000412050.4_Missense_Mutation_p.E362A	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	362					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TTTCAGAGGTTCATGATCAGT	0.403																																																	0			10											137.0	125.0	129.0					10																	93952314		2203	4300	6503	93942294	SO:0001583	missense	22849			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1085A>C	10.37:g.93952314T>G	ENSP00000265997:p.Glu362Ala		93942294	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777039	0.70107	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.49139	0.8;0.79	6.06	6.06	0.98353	.	0.051048	0.85682	D	0.000000	T	0.50582	0.1624	N	0.08118	0	0.58432	D	0.999995	P;P;D	0.56035	0.779;0.956;0.974	B;D;D	0.70487	0.23;0.931;0.969	T	0.61603	-0.7029	10	0.72032	D	0.01	-14.9532	16.6175	0.84920	0.0:0.0:0.0:1.0	.	362;362;362	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	A	362	ENSP00000398310:E362A;ENSP00000265997:E362A	ENSP00000265997:E362A	E	-	2	0	CPEB3	93942294	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.599000	0.82757	2.326000	0.78906	0.472000	0.43445	GAA		0.403	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912	
FGFR2	2263	hgsc.bcm.edu	37	10	123258040	123258040	+	Silent	SNP	G	G	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:123258040G>T	ENST00000358487.5	-	12	1913	c.1641C>A	c.(1639-1641)atC>atA	p.I547I	FGFR2_ENST00000369059.1_Silent_p.I433I|FGFR2_ENST00000369061.4_Silent_p.I435I|FGFR2_ENST00000356226.4_Silent_p.I430I|FGFR2_ENST00000369060.4_Silent_p.I431I|FGFR2_ENST00000346997.2_Silent_p.I545I|FGFR2_ENST00000369056.1_Silent_p.I548I|FGFR2_ENST00000357555.5_Silent_p.I458I|FGFR2_ENST00000360144.3_Silent_p.I459I|FGFR2_ENST00000457416.2_Silent_p.I548I|FGFR2_ENST00000478859.1_Silent_p.I319I|FGFR2_ENST00000351936.6_Silent_p.I545I	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	547	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GAAGATTTATGATATTCTTGT	0.408		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0			10											170.0	151.0	157.0					10																	123258040		2203	4300	6503	123248030	SO:0001819	synonymous_variant	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1641C>A	10.37:g.123258040G>T			123248030	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	CCDS31298.1																																																																																				0.408	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
PLEKHG4B	153478	hgsc.bcm.edu	37	5	182337	182337	+	Missense_Mutation	SNP	G	G	A	rs368497309		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:182337G>A	ENST00000283426.6	+	18	3765	c.3715G>A	c.(3715-3717)Gtc>Atc	p.V1239I		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1239							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGAGCCTGCGTCGAGGAAGA	0.662																																																	0			5						G	ILE/VAL	0,4406		0,0,2203	35.0	38.0	37.0		3715	-0.8	0.0	5		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLEKHG4B	NM_052909.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1239/1272	182337	1,13005	2203	4300	6503	235337	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3715G>A	5.37:g.182337G>A	ENSP00000283426:p.Val1239Ile		235337		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.211487	0.00289	0.0	1.16E-4	ENSG00000153404	ENST00000283426	T	0.24350	1.86	3.55	-0.756	0.11057	.	.	.	.	.	T	0.09468	0.0233	N	0.14661	0.345	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.35450	-0.9788	9	0.02654	T	1	.	2.6075	0.04882	0.5403:0.0:0.2457:0.2139	.	1239	Q96PX9	PKH4B_HUMAN	I	1239	ENSP00000283426:V1239I	ENSP00000283426:V1239I	V	+	1	0	PLEKHG4B	235337	0.999000	0.42202	0.001000	0.08648	0.081000	0.17604	1.874000	0.39568	-0.510000	0.06523	-1.583000	0.00853	GTC		0.662	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
ADCY2	108	hgsc.bcm.edu	37	5	7802363	7802363	+	Silent	SNP	C	C	T	rs2290910	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:7802363C>T	ENST00000338316.4	+	21	2750	c.2661C>T	c.(2659-2661)tgC>tgT	p.C887C	ADCY2_ENST00000537121.1_Silent_p.C707C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	887					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTGCGTCTGCGTCATGTTTG	0.483													C|||	1169	0.233427	0.1203	0.4164	5008	,	,		20942	0.2768		0.2644	False		,,,				2504	0.18																0			5						C		684,3722	288.4+/-279.8	53,578,1572	82.0	77.0	79.0		2661	-2.6	1.0	5	dbSNP_100	79	2285,6315	385.4+/-341.5	289,1707,2304	no	coding-synonymous	ADCY2	NM_020546.2		342,2285,3876	TT,TC,CC		26.5698,15.5243,22.8279		887/1092	7802363	2969,10037	2203	4300	6503	7855363	SO:0001819	synonymous_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2661C>T	5.37:g.7802363C>T			7855363	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	CCDS3872.2																																																																																				0.483	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
DNAH5	1767	hgsc.bcm.edu	37	5	13792154	13792154	+	Silent	SNP	C	C	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:13792154C>A	ENST00000265104.4	-	50	8501	c.8397G>T	c.(8395-8397)cgG>cgT	p.R2799R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2799	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)					CCTGCCAGACCCGAGAAAGAT	0.413									Kartagener syndrome																																								0			5											81.0	78.0	79.0					5																	13792154		2203	4300	6503	13845154	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8397G>T	5.37:g.13792154C>A			13845154	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
RAI14	26064	hgsc.bcm.edu	37	5	34803835	34803835	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:34803835T>C	ENST00000265109.3	+	5	562	c.275T>C	c.(274-276)cTc>cCc	p.L92P	RAI14_ENST00000397449.1_Missense_Mutation_p.L85P|RAI14_ENST00000515799.1_Missense_Mutation_p.L95P|RAI14_ENST00000428746.2_Missense_Mutation_p.L92P|RAI14_ENST00000503673.1_Missense_Mutation_p.L92P|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000512629.1_Missense_Mutation_p.L92P|RAI14_ENST00000506376.1_Missense_Mutation_p.L84P	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	92						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GCCTTACATCTCGCAGCCAAG	0.343																																																	0			5											51.0	48.0	49.0					5																	34803835		2203	4300	6503	34839592	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.275T>C	5.37:g.34803835T>C	ENSP00000265109:p.Leu92Pro		34839592	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945578	0.73672	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.82291	0.5005	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.61697	0.988;0.99;0.99;0.99	P;D;D;D	0.66847	0.885;0.916;0.935;0.947	D	0.85022	0.0912	9	0.87932	D	0	-2.1695	14.9508	0.71071	0.0:0.0:0.0:1.0	.	84;92;95;92	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	P	92;92;92;92;92;92;92;92;92;92;95;92;92;84;85	ENSP00000265109:L92P;ENSP00000424879:L92P;ENSP00000422112:L92P;ENSP00000422377:L92P;ENSP00000388725:L92P;ENSP00000421424:L92P;ENSP00000422942:L92P;ENSP00000422515:L92P;ENSP00000422114:L92P;ENSP00000424502:L92P;ENSP00000427123:L95P;ENSP00000426770:L92P;ENSP00000425115:L92P;ENSP00000423854:L84P;ENSP00000380591:L85P	ENSP00000265109:L92P	L	+	2	0	RAI14	34839592	1.000000	0.71417	0.850000	0.33497	0.992000	0.81027	5.810000	0.69179	2.271000	0.75665	0.533000	0.62120	CTC		0.343	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
COL4A3BP	10087	hgsc.bcm.edu	37	5	74676952	74676952	+	Silent	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:74676952T>C	ENST00000405807.4	-	16	2113	c.1692A>G	c.(1690-1692)ggA>ggG	p.G564G	COL4A3BP_ENST00000380494.5_Silent_p.G692G|COL4A3BP_ENST00000261415.7_Silent_p.G538G|COL4A3BP_ENST00000508692.1_Intron	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	564	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TTTCCTGGTTTCCCTCTGGTG	0.373																																																	0			5											235.0	211.0	219.0					5																	74676952		2203	4300	6503	74712708	SO:0001819	synonymous_variant	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1692A>G	5.37:g.74676952T>C			74712708	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	37	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	T	9.686	1.150508	0.21371	.	.	ENSG00000113163	ENST00000508809	.	.	.	5.91	3.44	0.39384	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51568	-0.8689	4	.	.	.	-0.0355	8.8989	0.35481	0.0:0.0639:0.3599:0.5761	.	.	.	.	E	66	.	.	K	-	1	0	COL4A3BP	74712708	0.444000	0.25649	0.998000	0.56505	0.992000	0.81027	-0.474000	0.06607	0.440000	0.26502	-0.332000	0.08345	AAA		0.373	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713	
RASGRF2	5924	hgsc.bcm.edu	37	5	80408616	80408616	+	Missense_Mutation	SNP	G	G	T	rs376549001		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:80408616G>T	ENST00000265080.4	+	14	2093	c.2026G>T	c.(2026-2028)Gct>Tct	p.A676S	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	676	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A676T(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CACTACTGCCGCTGTGGTGCT	0.493																																																	1	Substitution - Missense(1)	lung(1)	5						G	SER/ALA	0,4406		0,0,2203	154.0	148.0	150.0		2026	4.0	0.0	5		150	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASGRF2	NM_006909.1	99	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	676/1238	80408616	1,13005	2203	4300	6503	80444372	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2026G>T	5.37:g.80408616G>T	ENSP00000265080:p.Ala676Ser		80444372	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621822	0.28889	0.0	1.16E-4	ENSG00000113319	ENST00000265080	T	0.49720	0.77	5.79	3.99	0.46301	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.381137	0.32430	N	0.006112	T	0.32526	0.0832	L	0.36672	1.1	0.09310	N	1	B	0.26445	0.149	B	0.31686	0.134	T	0.25012	-1.0144	10	0.09843	T	0.71	.	5.9208	0.19080	0.2119:0.0:0.6539:0.1342	.	676	O14827	RGRF2_HUMAN	S	676	ENSP00000265080:A676S	ENSP00000265080:A676S	A	+	1	0	RASGRF2	80444372	0.004000	0.15560	0.042000	0.18584	0.852000	0.48524	0.522000	0.22909	0.789000	0.33779	0.558000	0.71614	GCT		0.493	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
APC	324	hgsc.bcm.edu	37	5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	rs121913331		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:112174631C>T	ENST00000457016.1	+	16	3720	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*	APC_ENST00000508376.2_Nonsense_Mutation_p.R1114*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*			P25054	APC_HUMAN	adenomatous polyposis coli	1114	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1114*(30)|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)		AGAAACAAATCGAGTGGGTTC	0.403	R1114*(LOVO_LARGE_INTESTINE)|R1114*(SW948_LARGE_INTESTINE)	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"""	31	Substitution - Nonsense(30)|Unknown(1)	large_intestine(29)|ovary(1)|skin(1)	5	GRCh37	CM920048	APC	M	rs121913331						90.0	82.0	85.0					5																	112174631		2202	4300	6502	112202530	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.3340C>T	5.37:g.112174631C>T	ENSP00000413133:p.Arg1114*		112202530	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.950292	0.97956	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	4.88	0.63580	.	0.190581	0.42172	D	0.000759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7869	14.0911	0.64990	0.3279:0.6721:0.0:0.0	.	.	.	.	X	1114;1096;1114;1114;1114	.	ENSP00000257430:R1114X	R	+	1	2	APC	112202530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.208000	0.42797	1.423000	0.47198	0.655000	0.94253	CGA		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175305	112175305	+	Silent	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:112175305G>A	ENST00000457016.1	+	16	4394	c.4014G>A	c.(4012-4014)caG>caA	p.Q1338Q	APC_ENST00000508376.2_Silent_p.Q1338Q|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.Q1338Q			P25054	APC_HUMAN	adenomatous polyposis coli	1338	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.L1337fs*76(4)|p.S1335fs*70(1)|p.K1192fs*3(1)|p.?(1)|p.V1326fs*3(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)		GCAGACTGCAGGGTTCTAGTT	0.458		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"""	8	Deletion - Frameshift(7)|Unknown(1)	large_intestine(6)|soft_tissue(1)|skin(1)	5											57.0	60.0	59.0					5																	112175305		2202	4300	6502	112203204	SO:0001819	synonymous_variant	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.4014G>A	5.37:g.112175305G>A			112203204	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.458	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112177789	112177789	+	Silent	SNP	A	A	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:112177789A>G	ENST00000457016.1	+	16	6878	c.6498A>G	c.(6496-6498)cgA>cgG	p.R2166R	APC_ENST00000508376.2_Silent_p.R2166R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.R2166R			P25054	APC_HUMAN	adenomatous polyposis coli	2166	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGGCCCACGAATTCTAAAAC	0.343		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	5											45.0	51.0	49.0					5																	112177789		2193	4295	6488	112205688	SO:0001819	synonymous_variant	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.6498A>G	5.37:g.112177789A>G			112205688	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
WDR55	54853	hgsc.bcm.edu	37	5	140049096	140049096	+	Missense_Mutation	SNP	C	C	T	rs138378618		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:140049096C>T	ENST00000358337.5	+	7	1246	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	337					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTACCGTCGGCGCAAAAA	0.592																																																	0			5						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	41.0	44.0	43.0		1009	2.1	0.8	5	dbSNP_134	43	0,8600		0,0,4300	no	missense	WDR55	NM_017706.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	337/384	140049096	1,13005	2203	4300	6503	140029280	SO:0001583	missense	54853			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1009C>T	5.37:g.140049096C>T	ENSP00000351100:p.Arg337Trp		140029280	Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741904	0.30865	2.27E-4	0.0	ENSG00000120314	ENST00000358337	T	0.31247	1.5	5.29	2.06	0.26882	.	1.205560	0.06196	N	0.682296	T	0.22975	0.0555	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.29941	-0.9995	10	0.72032	D	0.01	-0.7715	8.1252	0.30995	0.4101:0.5048:0.0:0.0851	.	337	Q9H6Y2	WDR55_HUMAN	W	337	ENSP00000351100:R337W	ENSP00000351100:R337W	R	+	1	2	WDR55	140029280	0.564000	0.26602	0.777000	0.31699	0.904000	0.53231	1.258000	0.32944	0.561000	0.29186	0.467000	0.42956	CGG		0.592	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706	
PCDHB4	56131	hgsc.bcm.edu	37	5	140502958	140502958	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:140502958C>T	ENST00000194152.1	+	1	1378	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGCGAGAACAA	0.627																																																	0			5											65.0	65.0	65.0					5																	140502958		2203	4296	6499	140483142	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1378C>T	5.37:g.140502958C>T	ENSP00000194152:p.Arg460Cys		140483142	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643242	0.29246	.	.	ENSG00000081818	ENST00000194152	T	0.01767	4.65	4.1	4.1	0.47936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.05593	0.0147	M	0.83953	2.67	0.20764	N	0.999857	B	0.22146	0.065	B	0.27715	0.082	T	0.06625	-1.0816	9	0.66056	D	0.02	.	16.5721	0.84615	0.0:1.0:0.0:0.0	.	460	Q9Y5E5	PCDB4_HUMAN	C	460	ENSP00000194152:R460C	ENSP00000194152:R460C	R	+	1	0	PCDHB4	140483142	0.000000	0.05858	0.792000	0.32020	0.752000	0.42762	0.221000	0.17680	2.307000	0.77673	0.650000	0.86243	CGC		0.627	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
ABLIM3	22885	hgsc.bcm.edu	37	5	148619347	148619347	+	Missense_Mutation	SNP	G	G	A	rs138526744		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:148619347G>A	ENST00000506113.1	+	12	1582	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305Q|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367Q|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367Q|ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305Q			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	367					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACCTCCGGCAGAGACGG	0.642																																																	0			5						G	GLN/ARG	0,4406		0,0,2203	70.0	75.0	74.0		1100	5.0	1.0	5	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABLIM3	NM_014945.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	367/684	148619347	1,13005	2203	4300	6503	148599540	SO:0001583	missense	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1100G>A	5.37:g.148619347G>A	ENSP00000425394:p.Arg367Gln		148599540	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923022	0.92319	0.0	1.16E-4	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.0	5.0	0.66597	.	0.113050	0.64402	D	0.000018	T	0.55130	0.1901	L	0.43923	1.385	0.47065	D	0.999307	D;D;P	0.76494	0.999;0.999;0.943	D;D;B	0.74023	0.948;0.982;0.293	T	0.41645	-0.9497	10	0.15499	T	0.54	.	18.4763	0.90793	0.0:0.0:1.0:0.0	.	305;305;367	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	Q	305;305;367;367;305;367	ENSP00000315841:R305Q;ENSP00000348938:R305Q;ENSP00000310309:R367Q;ENSP00000425394:R367Q;ENSP00000421183:R305Q;ENSP00000420855:R367Q	ENSP00000310309:R367Q	R	+	2	0	ABLIM3	148599540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.028000	0.76470	2.598000	0.87819	0.462000	0.41574	CGG		0.642	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
RPS14	6208	hgsc.bcm.edu	37	5	149826426	149826426	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:149826426T>C	ENST00000401695.3	-	3	296	c.250A>G	c.(250-252)Agg>Ggg	p.R84G	RPS14_ENST00000312037.5_Missense_Mutation_p.R84G|RPS14_ENST00000407193.1_Missense_Mutation_p.R84G			P62263	RS14_HUMAN	ribosomal protein S14	84					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTGCACCTCTGGGCCACA	0.562																																																	0			5											100.0	81.0	87.0					5																	149826426		2203	4300	6503	149806619	SO:0001583	missense	6208				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"""S ribosomal proteins"""	10387	protein-coding gene	gene with protein product	"""emetine resistance"", ""40S ribosomal protein S14"""	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.250A>G	5.37:g.149826426T>C	ENSP00000385958:p.Arg84Gly		149806619	B2R5G5|D3DQG5|P06366|Q5BJI0	Missense_Mutation	SNP	ENST00000401695.3	37	CCDS4307.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858429	0.51376	.	.	ENSG00000164587	ENST00000401695;ENST00000407193;ENST00000521466;ENST00000312037	.	.	.	4.96	3.8	0.43715	.	0.042711	0.85682	D	0.000000	T	0.76891	0.4051	M	0.86028	2.79	0.58432	D	0.999998	B	0.33637	0.42	P	0.47075	0.536	T	0.76200	-0.3046	9	0.49607	T	0.09	.	10.6943	0.45890	0.0:0.0759:0.0:0.9241	.	84	P62263	RS14_HUMAN	G	84	.	ENSP00000311028:R84G	R	-	1	2	RPS14	149806619	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.210000	0.51129	0.854000	0.35336	0.374000	0.22700	AGG		0.562	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252373.1	NM_001025071	
TMEM59L	25789	hgsc.bcm.edu	37	19	18724827	18724827	+	Splice_Site	SNP	G	G	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr19:18724827G>A	ENST00000600490.1	+	3	501		c.e3+1		TMEM59L_ENST00000262817.3_Splice_Site			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						TGTGAAGCAGGTGAGGGCCCG	0.672																																																	0			19											34.0	39.0	37.0					19																	18724827		2203	4300	6503	18585827	SO:0001630	splice_region_variant	25789			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.316+1G>A	19.37:g.18724827G>A			18585827		Splice_Site	SNP	ENST00000600490.1	37	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609583	0.66558	.	.	ENSG00000105696	ENST00000262817	.	.	.	4.54	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5325	0.50618	0.0898:0.0:0.9102:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM59L	18585827	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.951000	0.63610	0.889000	0.36185	0.561000	0.74099	.		0.672	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2		Intron
CD207	50489	hgsc.bcm.edu	37	2	71062833	71062833	+	Splice_Site	SNP	G	G	C	rs397692276|rs11450450		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr2:71062833G>C	ENST00000410009.3	-	1	119		c.e1+1			NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GATGTGGCTTGCTCGGGGCCA	0.547																																																	0			2											71.0	84.0	80.0					2																	71062833		2133	4253	6386	70916341	SO:0001630	splice_region_variant	50489			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.73+1C>G	2.37:g.71062833G>C			70916341		Splice_Site	SNP	ENST00000410009.3	37		.	.	.	.	.	.	.	.	.	.	G	8.781	0.928326	0.18131	.	.	ENSG00000116031	ENST00000410009	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8493	0.52401	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD207	70916341	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	2.092000	0.41700	2.482000	0.83794	0.655000	0.94253	.		0.547	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717	Intron
PHACTR4	65979	hgsc.bcm.edu	37	1	28785730	28785730	+	Frame_Shift_Del	DEL	A	A	-	rs550399400		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:28785730delA	ENST00000373839.3	+	3	412	c.151delA	c.(151-153)aaafs	p.K53fs	PHACTR4_ENST00000373836.3_Frame_Shift_Del_p.K63fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	53					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.S64fs*12(3)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAAATGGAGGAAAAAAAAAAG	0.393																																																	3	Deletion - Frameshift(3)	ovary(2)|breast(1)	1							,	74,3472		1,72,1700	69.0	66.0	67.0		,	4.4	1.0	1		71	172,7652		3,166,3743	no	frameshift,frameshift	PHACTR4	NM_023923.3,NM_001048183.1	,	4,238,5443	A1A1,A1R,RR		2.1984,2.0869,2.1636	,	,	28785730	246,11124	1842	4093	5935	28658317	SO:0001589	frameshift_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.151delA	1.37:g.28785730delA	ENSP00000362945:p.Lys53fs		28658317	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Del	DEL	ENST00000373839.3	37	CCDS41293.1																																																																																				0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
LOR	4014	hgsc.bcm.edu	37	1	153233488	153233489	+	In_Frame_Ins	INS	-	-	GGCGGT	rs150026164	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:153233488_153233489insGGCGGT	ENST00000368742.3	+	2	120_121	c.63_64insGGCGGT	c.(64-66)ggc>GGCGGTggc	p.22_22G>GGG		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	22					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G22S(1)		lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACCTCTggcggcggtggcgg	0.673														971	0.19389	0.3812	0.1542	5008	,	,		8118	0.0685		0.2326	False		,,,				2504	0.0583																1	Substitution - Missense(1)	lung(1)	1								1372,2418		364,644,887						1.9	0.9		dbSNP_130	14	1619,5813		315,989,2412	no	coding	LOR	NM_000427.2		679,1633,3299	A1A1,A1R,RR		21.7842,36.2005,26.653				2991,8231				151500113	SO:0001652	inframe_insertion	4014			M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.70_75dupGGCGGT	1.37:g.153233489_153233494dupGGCGGT	ENSP00000357731:p.GlyGly28dup		151500112	Q5T869|Q5XKF8	In_Frame_Ins	INS	ENST00000368742.3	37	CCDS30870.1																																																																																				0.673	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427	
NES	10763	hgsc.bcm.edu	37	1	156646849	156646849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:156646849delG	ENST00000368223.3	-	1	340	c.208delC	c.(208-210)cgcfs	p.R70fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	70	Coil 1B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCGCCAGCGTTGGTCAACG	0.746																																																	0			1											5.0	5.0	5.0					1																	156646849		1861	3825	5686	154913473	SO:0001589	frameshift_variant	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.208delC	1.37:g.156646849delG	ENSP00000357206:p.Arg70fs		154913473	O00552|Q3LIF5|Q5SYZ6	Frame_Shift_Del	DEL	ENST00000368223.3	37	CCDS1151.1																																																																																				0.746	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
PPP1R12B	4660	hgsc.bcm.edu	37	1	202407190	202407190	+	Intron	DEL	T	T	-			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr1:202407190delT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron|RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000480184.1_Frame_Shift_Del_p.V499fs	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAAGGCAGTTTTTTTTTTC	0.388																																																	0			1							,,	92,128,3982		2,0,88,2,124,1885	28.0	30.0	30.0		,,	1.9	0.0	1		31	174,230,7838		0,1,173,13,203,3731	no	intron,utr-3,codingComplex	PPP1R12B	NM_002481.3,NM_001167858.1,NM_001167857.1	,,	2,1,261,15,327,5616	A1A1,A1A2,A1R,A2A2,A2R,RR		4.9017,5.2356,5.0145	,,	,,	202407190	266,358,11820	2202	4300	6502	200673813	SO:0001627	intron_variant	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+38T>-	1.37:g.202407190delT			200673813	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Del	DEL	ENST00000608999.1	37	CCDS1426.1																																																																																				0.388	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	
QRICH1	54870	hgsc.bcm.edu	37	3	49094428	49094437	+	Frame_Shift_Del	DEL	ACAGCCTGCA	ACAGCCTGCA	-	rs576649534		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	ACAGCCTGCA	ACAGCCTGCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:49094428_49094437delACAGCCTGCA	ENST00000395443.2	-	3	1668_1677	c.1196_1205delTGCAGGCTGT	c.(1195-1206)gtgcaggctgtgfs	p.VQAV399fs	QRICH1_ENST00000424300.1_Frame_Shift_Del_p.VQAV399fs|QRICH1_ENST00000357496.2_Frame_Shift_Del_p.VQAV399fs|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	399	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTGCCTGCCACAGCCTGCACAGCCACTGG	0.529																																																	0			3																																								49069441	SO:0001589	frameshift_variant	54870				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1196_1205delTGCAGGCTGT	3.37:g.49094428_49094437delACAGCCTGCA	ENSP00000378830:p.Val399fs		49069432	Q4G0F7|Q7L621|Q8TEA5	Frame_Shift_Del	DEL	ENST00000395443.2	37	CCDS2787.1																																																																																				0.529	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
ZNF717	100131827	hgsc.bcm.edu	37	3	75786315	75786323	+	In_Frame_Del	DEL	CTACATTCT	CTACATTCT	-	rs146447046|rs202196860		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	CTACATTCT	CTACATTCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr3:75786315_75786323delCTACATTCT	ENST00000478296.1	-	4	2577_2585	c.2301_2309delAGAATGTAG	c.(2299-2310)aaagaatgtagg>aag	p.ECR768del	ZNF717_ENST00000477374.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_In_Frame_Del_p.ECR811del|ZNF717_ENST00000422325.1_In_Frame_Del_p.ECR818del			Q9BY31	ZN717_HUMAN	zinc finger protein 717	808					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GAAGGTTTTCCTACATTCTTTACATTCAA	0.383																																																	0			3																																								75869013	SO:0001651	inframe_deletion	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.2301_2309delAGAATGTAG	3.37:g.75786315_75786323delCTACATTCT	ENSP00000419377:p.Glu768_Arg770del		75869005		In_Frame_Del	DEL	ENST00000478296.1	37																																																																																					0.383	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
PHYKPL	85007	hgsc.bcm.edu	37	5	177637603	177637604	+	Intron	INS	-	-	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr5:177637603_177637604insA	ENST00000308158.5	-	12	1619				HNRNPAB_ENST00000504898.1_Frame_Shift_Ins_p.N327fs|HNRNPAB_ENST00000514633.1_Frame_Shift_Ins_p.N278fs|HNRNPAB_ENST00000358344.3_Frame_Shift_Ins_p.N327fs|HNRNPAB_ENST00000355836.5_Frame_Shift_Ins_p.N280fs|HNRNPAB_ENST00000515193.1_Frame_Shift_Ins_p.N275fs|HNRNPAB_ENST00000506339.1_Frame_Shift_Ins_p.N322fs|HNRNPAB_ENST00000506259.1_Frame_Shift_Ins_p.N280fs|PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	GTGGCCATCAGAATAACTACAA	0.47																																																	0			5																																								177570210	SO:0001627	intron_variant	3182			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1350+1286->T	5.37:g.177637605_177637605dupA			177570209	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Frame_Shift_Ins	INS	ENST00000308158.5	37	CCDS4434.1																																																																																				0.470	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921	
EYS	346007	hgsc.bcm.edu	37	6	65016978	65016979	+	Intron	DEL	GA	GA	-	rs35395170|rs60972590|rs66811225	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:65016978_65016979delGA	ENST00000370621.3	-	30	6605				EYS_ENST00000370616.2_Intron|EYS_ENST00000503581.1_Intron			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACAGGCATCTgagagagagaga	0.361														3376	0.674121	0.6967	0.6758	5008	,	,		18287	0.5179		0.7217	False		,,,				2504	0.7546																0			6																																								65074938	SO:0001627	intron_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6079-3TC>-	6.37:g.65016988_65016989delGA			65074937	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Del	DEL	ENST00000370621.3	37																																																																																					0.361	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
SLC22A1	6580	hgsc.bcm.edu	37	6	160560898	160560905	+	Splice_Site	DEL	TGGTAAGT	TGGTAAGT	-	rs36056065|rs35854239|rs200234072|rs77297078|rs113569197	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	TGGTAAGT	TGGTAAGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr6:160560898_160560905delTGGTAAGT	ENST00000366963.4	+	7	1422_1423	c.1275_1276delTGGTAAGT	c.(1273-1278)cctggt>ccgt	p.G426fs	SLC22A1_ENST00000457470.2_Splice_Site_p.G426fs|SLC22A1_ENST00000324965.4_Splice_Site_p.G426fs	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	426					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	TTATCTCACCTGGTAAGTTGGTAAGTTG	0.495														3453	0.689497	0.7413	0.7839	5008	,	,		15006	0.7411		0.5825	False		,,,				2504	0.6094																0			6																																								160480895	SO:0001630	splice_region_variant	6580			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1276+1TGGTAAGT>-	6.37:g.160560906_160560913delTGGTAAGT			160480888	A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	In_Frame_Del	DEL	ENST00000366963.4	37	CCDS5274.1																																																																																				0.495	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2		Frame_Shift_Del
PARP10	84875	hgsc.bcm.edu	37	8	145059646	145059647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr8:145059646_145059647insC	ENST00000313028.7	-	4	700_701	c.606_607insG	c.(604-609)gggcccfs	p.P203fs	PARP10_ENST00000525773.1_Frame_Shift_Ins_p.P215fs|PARP10_ENST00000524918.1_Frame_Shift_Ins_p.P203fs|PARP10_ENST00000533665.1_5'UTR	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	203					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTCCAGGGGCCCCCCACCAC	0.683																																																	0			8																																								145131635	SO:0001589	frameshift_variant	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.607dupG	8.37:g.145059652_145059652dupC	ENSP00000325618:p.Pro203fs		145131634	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Frame_Shift_Ins	INS	ENST00000313028.7	37	CCDS34960.1																																																																																				0.683	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789	
CER1	9350	hgsc.bcm.edu	37	9	14720358	14720358	+	Frame_Shift_Del	DEL	T	T	-	rs35706018	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr9:14720358delT	ENST00000380911.3	-	2	578	c.534delA	c.(532-534)aaafs	p.K178fs		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	178	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GAACAACTACTTTTTCACAGC	0.423																																																	0			9											65.0	57.0	60.0					9																	14720358		2203	4300	6503	14710358	SO:0001589	frameshift_variant	23739			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.534delA	9.37:g.14720358delT	ENSP00000370297:p.Lys178fs		14710358	Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Frame_Shift_Del	DEL	ENST00000380911.3	37	CCDS6476.1																																																																																				0.423	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454	
OR13C3	138803	hgsc.bcm.edu	37	9	107298357	107298358	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr9:107298357_107298358insA	ENST00000374781.2	-	1	779_780	c.737_738insT	c.(736-738)ttcfs	p.F246fs		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						ACATATAGGAGAAAAAAATGAC	0.45																																					GBM(86;1248 1274 14222 15028 46219)												0			9																																								106338179	SO:0001589	frameshift_variant	138803				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.738dupT	9.37:g.107298364_107298364dupA	ENSP00000363913:p.Phe246fs		106338178	Q5VVG1|Q6IF52	Frame_Shift_Ins	INS	ENST00000374781.2	37	CCDS35089.1																																																																																				0.450	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
GPRIN2	9721	hgsc.bcm.edu	37	10	46999591	46999592	+	In_Frame_Ins	INS	-	-	ATGAGGGAG	rs112620425	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:46999591_46999592insATGAGGGAG	ENST00000374317.1	+	3	984_985	c.711_712insATGAGGGAG	c.(712-714)atg>ATGAGGGAGatg	p.238_238M>MREM	GPRIN2_ENST00000374314.4_In_Frame_Ins_p.238_238M>MREM	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	238								p.G237_M238insMRE(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TACTCTGTGGCATGAGGGAGGT	0.629														2399	0.479034	0.4697	0.4856	5008	,	,		38874	0.4782		0.4761	False		,,,				2504	0.4908																1	Insertion - In frame(1)	breast(1)	10								2080,27,2157		11,3,2055,0,24,39						0.9	0.0		dbSNP_130	49	3974,98,4180		16,7,3935,0,91,77	no	codingComplex	GPRIN2	NM_014696.3		27,10,5990,0,115,116	A1A1,A1A2,A1R,A2A2,A2R,RR		49.3456,49.4137,49.3688				6054,125,6337				46419598	SO:0001652	inframe_insertion	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.712_720dupATGAGGGAG	10.37:g.46999592_46999600dupATGAGGGAG	Exception_encountered		46419597	Q5SVF0	In_Frame_Ins	INS	ENST00000374317.1	37	CCDS31192.1																																																																																				0.629	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
KCNMA1	3778	hgsc.bcm.edu	37	10	78771791	78771791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr10:78771791delA	ENST00000286628.8	-	18	2025	c.2026delT	c.(2026-2028)tacfs	p.Y676fs	KCNMA1_ENST00000404857.1_Frame_Shift_Del_p.Y676fs|KCNMA1_ENST00000406533.3_Frame_Shift_Del_p.Y680fs|KCNMA1_ENST00000286627.5_Frame_Shift_Del_p.Y676fs|KCNMA1_ENST00000372440.1_Frame_Shift_Del_p.Y676fs|KCNMA1_ENST00000354353.5_Frame_Shift_Del_p.Y676fs|KCNMA1_ENST00000372443.1_Frame_Shift_Del_p.Y676fs|KCNMA1_ENST00000404771.3_Frame_Shift_Del_p.Y676fs	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	676					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GCCTTGCAGTAAAAAAATGCC	0.428																																																	0			10											113.0	110.0	111.0					10																	78771791		2203	4300	6503	78441797	SO:0001589	frameshift_variant	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2026delT	10.37:g.78771791delA	ENSP00000286628:p.Tyr676fs		78441797	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Frame_Shift_Del	DEL	ENST00000286628.8	37																																																																																					0.428	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
WNK1	65125	hgsc.bcm.edu	37	12	970297	970297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr12:970297delA	ENST00000315939.6	+	7	2382	c.1739delA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000340908.4_Frame_Shift_Del_p.E173fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000537687.1_Frame_Shift_Del_p.E580fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAGGAGCAAGAAAAAAAAAAG	0.468																																					Colon(19;451 567 6672 12618 28860)												1	Unknown(1)	skin(1)	12											98.0	96.0	97.0					12																	970297		2203	4300	6503	840558	SO:0001589	frameshift_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1739delA	12.37:g.970297delA	ENSP00000313059:p.Glu580fs		840558	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Del	DEL	ENST00000315939.6	37	CCDS8506.1																																																																																				0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs		54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				0.338	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
PHGR1	644844	hgsc.bcm.edu	37	15	40648373	40648405	+	In_Frame_Del	DEL	CCAGGGCCCTGCGGGCCACCCCCTGGCCATGGC	CCAGGGCCCTGCGGGCCACCCCCTGGCCATGGC	-	rs528310955|rs371153968|rs190680696|rs9707826|rs374256648	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	CCAGGGCCCTGCGGGCCACCCCCTGGCCATGGC	CCAGGGCCCTGCGGGCCACCCCCTGGCCATGGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr15:40648373_40648405delCCAGGGCCCTGCGGGCCACCCCCTGGCCATGGC	ENST00000448599.2	+	4	174_206	c.118_150delCCAGGGCCCTGCGGGCCACCCCCTGGCCATGGC	c.(118-150)ccagggccctgcgggccaccccctggccatggcdel	p.PGPCGPPPGHG40del	DISP2_ENST00000267889.3_5'Flank	NM_001145643.1	NP_001139115.1	C9JFL3	PHGR1_HUMAN	proline/histidine/glycine-rich 1	40	Gly-rich.																CCACCATGGTCCAGGGCCCTGCGGGCCACCCCCTGGCCATGGCCCAGGGCCCT	0.76																																																	0			15																																								38435697	SO:0001651	inframe_deletion	0				CCDS45225.1	15q15.1	2009-10-08				ENSG00000233041			37226	protein-coding gene	gene with protein product							Standard	NM_001145643		Approved		uc010uco.2	C9JFL3		ENST00000448599.2:c.118_150delCCAGGGCCCTGCGGGCCACCCCCTGGCCATGGC	15.37:g.40648373_40648405delCCAGGGCCCTGCGGGCCACCCCCTGGCCATGGC	ENSP00000410024:p.Pro40_Gly50del		38435665		In_Frame_Del	DEL	ENST00000448599.2	37	CCDS45225.1																																																																																				0.760	PHGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418450.1	NM_001145643	
TP53	7157	hgsc.bcm.edu	37	17	7579353	7579363	+	Frame_Shift_Del	DEL	CCAGACGGAAA	CCAGACGGAAA	-	rs587783063|rs587781371|rs11540654|rs587780066	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	CCAGACGGAAA	CCAGACGGAAA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:7579353_7579363delCCAGACGGAAA	ENST00000269305.4	-	4	513_523	c.324_334delTTTCCGTCTGG	c.(322-336)ggtttccgtctgggcfs	p.GFRLG108fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.GFRLG108fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.GFRLG108fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.GFRLG108fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.GFRLG108fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.GFRLG108fs	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	108	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> D (in a sporadic cancer; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).		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.R110L(36)|p.R110fs*13(11)|p.L111R(11)|p.R110P(9)|p.0?(8)|p.R110C(7)|p.L111Q(7)|p.L111P(6)|p.F109C(4)|p.F109S(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.R110H(2)|p.L111L(2)|p.G108del(2)|p.F109_R110delFR(2)|p.G112S(1)|p.R110fs*18(1)|p.R110fs*39(1)|p.G112fs*9(1)|p.L111fs*10(1)|p.G108G(1)|p.V73fs*9(1)|p.Y107fs*38(1)|p.Y107fs*44(1)|p.L111M(1)|p.S33fs*23(1)|p.R110S(1)|p.?_?ins?(1)|p.F109F(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.G112fs*36(1)|p.F109V(1)|p.Y103_L111>L(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.W91fs*13(1)|p.G112_S116delGFLHS(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)	TGCAAGAAGCCCAGACGGAAACCGTAGCTGC	0.616		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"""	146	Substitution - Missense(90)|Deletion - Frameshift(25)|Deletion - In frame(9)|Whole gene deletion(8)|Insertion - Frameshift(5)|Substitution - coding silent(4)|Insertion - In frame(2)|Complex - deletion inframe(2)|Complex - frameshift(1)	lung(22)|breast(22)|upper_aerodigestive_tract(19)|large_intestine(14)|liver(12)|ovary(10)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(6)|stomach(4)|central_nervous_system(4)|oesophagus(4)|prostate(4)|bone(4)|NS(3)|soft_tissue(3)|skin(3)|autonomic_ganglia(1)|salivary_gland(1)|pancreas(1)	17	GRCh37	CM984590|CX942126	TP53	M|X	rs11540654																																			7520088	SO:0001589	frameshift_variant	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.324_334delTTTCCGTCTGG	17.37:g.7579353_7579363delCCAGACGGAAA	ENSP00000269305:p.Gly108fs		7520078	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.616	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TMEM97	27346	hgsc.bcm.edu	37	17	26653807	26653807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr17:26653807delA	ENST00000226230.6	+	3	664	c.519delA	c.(517-519)agafs	p.R173fs	TMEM97_ENST00000336687.6_Frame_Shift_Del_p.R66fs|TMEM97_ENST00000583381.1_Frame_Shift_Del_p.R66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AAGAGAAAAGAAAAAAAAAAT	0.438																																																	1	Deletion - Frameshift(1)	lung(1)	17								25,25,4214		0,0,25,0,25,2082	59.0	56.0	57.0			2.6	1.0	17		58	45,41,8168		0,0,45,0,41,4041	no	codingComplex	TMEM97	NM_014573.2		0,0,70,0,66,6123	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0419,1.1726,1.0864			26653807	70,66,12382	2203	4300	6503	23677934	SO:0001589	frameshift_variant	27346			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.519delA	17.37:g.26653807delA	ENSP00000226230:p.Arg173fs		23677934	B4DS02|Q07823	Frame_Shift_Del	DEL	ENST00000226230.6	37	CCDS11226.2																																																																																				0.438	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573	
POLI	11201	hgsc.bcm.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	CGA	CGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000579434.1_5'UTR|POLI_ENST00000217800.5_5'Flank|POLI_ENST00000406285.3_In_Frame_Del_p.D17del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914																1	Deletion - In frame(1)	large_intestine(1)	18								3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				50049958	SO:0001651	inframe_deletion	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del		50049956	Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
FAM47A	158724	hgsc.bcm.edu	37	X	34148376	34148377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DC-6160-01A-11D-1657-10	TCGA-DC-6160-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	902a8fff-7675-4b2c-8c43-077d1fcc6d7b	0af81acb-66b4-4a7c-951f-8b2ee8a82767	g.chrX:34148376_34148377insG	ENST00000346193.3	-	1	2070_2071	c.2019_2020insC	c.(2017-2022)aaatacfs	p.Y674fs		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	674										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGCCCCAGTATTTTTCCTGTG	0.431																																																	0			X																																								34058298	SO:0001589	frameshift_variant	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2019_2020insC	X.37:g.34148376_34148377insG	ENSP00000345029:p.Tyr674fs		34058297	A8K8I9|Q8TAA0	Frame_Shift_Ins	INS	ENST00000346193.3	37	CCDS43926.1																																																																																				0.431	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
