#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
CYP2W1	54905	hgsc.bcm.edu	37	7	1024057	1024057	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:1024057C>T	ENST00000308919.7	+	2	197	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	CYP2W1_ENST00000340150.6_Missense_Mutation_p.R6C	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	62					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCTCTCAGAACGCTACGGGCC	0.711																																																	0			7											13.0	14.0	14.0					7																	1024057		2009	3970	5979	990583	SO:0001583	missense	54905			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.184C>T	7.37:g.1024057C>T	ENSP00000310149:p.Arg62Cys		990583		Missense_Mutation	SNP	ENST00000308919.7	37	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258128	0.39896	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.69435	-0.4;-0.4	5.45	-0.381	0.12485	.	0.894418	0.09644	N	0.774635	T	0.75034	0.3795	M	0.78456	2.415	0.09310	N	1	D;D	0.61697	0.99;0.981	P;P	0.59595	0.86;0.806	T	0.62062	-0.6933	10	0.59425	D	0.04	.	5.858	0.18730	0.5784:0.248:0.0:0.1735	.	6;62	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	C	62;6	ENSP00000310149:R62C;ENSP00000344178:R6C	ENSP00000310149:R62C	R	+	1	0	CYP2W1	990583	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.030000	0.13688	-0.001000	0.14495	0.478000	0.44815	CGC		0.711	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781	
GPER1	2852	hgsc.bcm.edu	37	7	1131796	1131796	+	Silent	SNP	C	C	T	rs143366301	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:1131796C>T	ENST00000297469.3	+	2	1123	c.432C>T	c.(430-432)agC>agT	p.S144S	GPER1_ENST00000397092.1_Silent_p.S144S|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000401670.1_Silent_p.S144S|GPER1_ENST00000397088.3_Silent_p.S144S|C7orf50_ENST00000357429.6_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	144				NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736). {ECO:0000305}.	apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										TGTACAGCAGCGTCTTCTTCC	0.602																																																	0			7							,,,,,	0,4406		0,0,2203	146.0	106.0	119.0		432,432,,,432,	0.9	1.0	7	dbSNP_134	119	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,intron	GPER,C7orf50	NM_001039966.1,NM_001098201.1,NM_001134395.1,NM_001134396.1,NM_001505.2,NM_032350.5	,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,	144/376,144/376,,,144/376,	1131796	2,13004	2203	4300	6503	1098322	SO:0001819	synonymous_variant	2852			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.432C>T	7.37:g.1131796C>T			1098322	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	ENST00000297469.3	37	CCDS5322.1																																																																																				0.602	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966	
INTS1	26173	hgsc.bcm.edu	37	7	1539638	1539638	+	Missense_Mutation	SNP	C	C	T	rs373727561		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:1539638C>T	ENST00000404767.3	-	5	651	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	INTS1_ENST00000389470.4_Missense_Mutation_p.R317Q|INTS1_ENST00000493531.1_5'UTR	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	189					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGCGTCCCGCCGCAGGAGGCT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		15902	0.0		0.001	False		,,,				2504	0.0																0			7							GLN/ARG	0,4036		0,0,2018	41.0	47.0	45.0		566	4.2	1.0	7		45	1,8345		0,1,4172	no	missense	INTS1	NM_001080453.2	43	0,1,6190	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	189/2191	1539638	1,12381	2018	4173	6191	1506164	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.566G>A	7.37:g.1539638C>T	ENSP00000385722:p.Arg189Gln		1506164	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892502	0.91889	0.0	1.2E-4	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47528	0.84;0.85	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.65323	0.934;0.905	T	0.67284	-0.5709	10	0.66056	D	0.02	.	16.8596	0.86014	0.0:1.0:0.0:0.0	.	317;189	A4D212;Q8N201	.;INT1_HUMAN	Q	189;317	ENSP00000385722:R189Q;ENSP00000374121:R317Q	ENSP00000374121:R317Q	R	-	2	0	INTS1	1506164	1.000000	0.71417	0.998000	0.56505	0.741000	0.42261	7.455000	0.80726	2.204000	0.70986	0.655000	0.94253	CGG		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
GNA12	2768	hgsc.bcm.edu	37	7	2834612	2834612	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:2834612T>C	ENST00000275364.3	-	2	637	c.475A>G	c.(475-477)Agg>Ggg	p.R159G	GNA12_ENST00000544127.1_Missense_Mutation_p.R83G|GNA12_ENST00000407904.3_Missense_Mutation_p.R100G	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	159					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CCAGAATCCCTCCAGAGTGCG	0.582																																																	0			7											80.0	79.0	79.0					7																	2834612		2203	4300	6503	2801138	SO:0001583	missense	2768			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.475A>G	7.37:g.2834612T>C	ENSP00000275364:p.Arg159Gly		2801138	A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977033	0.34848	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000544127;ENST00000447791	D;D;D	0.88509	-2.39;-2.39;-2.39	5.45	-3.52	0.04682	G protein alpha subunit, helical insertion (2);	0.374258	0.32416	N	0.006138	T	0.75376	0.3841	L	0.31420	0.93	0.80722	D	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.10450	0.001;0.005;0.002	T	0.52328	-0.8590	10	0.18710	T	0.47	.	5.8379	0.18617	0.0:0.2124:0.386:0.4016	.	159;159;100	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	G	159;100;83;74	ENSP00000275364:R159G;ENSP00000385935:R100G;ENSP00000437469:R83G	ENSP00000275364:R159G	R	-	1	2	GNA12	2801138	0.912000	0.30974	0.988000	0.46212	0.893000	0.52053	0.432000	0.21461	-0.489000	0.06716	0.379000	0.24179	AGG		0.582	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353	
FOXK1	221937	hgsc.bcm.edu	37	7	4794936	4794936	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:4794936G>A	ENST00000328914.4	+	4	972	c.972G>A	c.(970-972)cgG>cgA	p.R324R	FOXK1_ENST00000446823.1_Silent_p.R161R	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCCAGGACCGGCAGCTGACCC	0.642																																																	0			7											67.0	59.0	62.0					7																	4794936		2203	4300	6503	4761462	SO:0001819	synonymous_variant	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.972G>A	7.37:g.4794936G>A			4761462		Silent	SNP	ENST00000328914.4	37	CCDS34591.1																																																																																				0.642	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2		
AP5Z1	9907	hgsc.bcm.edu	37	7	4823955	4823955	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:4823955C>T	ENST00000348624.4	+	6	837	c.743C>T	c.(742-744)gCg>gTg	p.A248V	AP5Z1_ENST00000401897.1_Missense_Mutation_p.A248V	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	248					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATGCTGCGGGCGTGGCTGCTG	0.682																																																	0			7											10.0	12.0	11.0					7																	4823955		2045	4182	6227	4790481	SO:0001583	missense	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.743C>T	7.37:g.4823955C>T	ENSP00000297562:p.Ala248Val		4790481	Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	6.003	0.369014	0.11352	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.46819	0.86;0.86	4.31	-0.942	0.10398	.	0.671962	0.14578	N	0.311068	T	0.30417	0.0764	L	0.38531	1.155	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.15150	-1.0447	10	0.30854	T	0.27	.	5.2447	0.15490	0.3738:0.4352:0.0:0.191	.	248	O43299	K0415_HUMAN	V	248	ENSP00000297562:A248V;ENSP00000384980:A248V	ENSP00000297562:A248V	A	+	2	0	KIAA0415	4790481	0.002000	0.14202	0.049000	0.19019	0.193000	0.23685	1.055000	0.30467	0.031000	0.15407	-0.448000	0.05591	GCG		0.682	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1		
PHF14	9678	hgsc.bcm.edu	37	7	11101436	11101436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:11101436C>T	ENST00000403050.3	+	15	2952	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	PHF14_ENST00000445996.2_Nonsense_Mutation_p.R549*	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	834					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGGACGAAAACGAAGCTTCGT	0.284																																																	0			7											51.0	52.0	51.0					7																	11101436		1775	4011	5786	11067961	SO:0001587	stop_gained	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2500C>T	7.37:g.11101436C>T	ENSP00000385795:p.Arg834*		11067961	A7MCZ3|B4DI82	Nonsense_Mutation	SNP	ENST00000403050.3	37	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	C	44	10.748378	0.99460	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	.	.	.	5.28	3.25	0.37280	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3153	0.66446	0.2801:0.7199:0.0:0.0	.	.	.	.	X	834;549	.	ENSP00000385795:R834X	R	+	1	2	PHF14	11067961	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.637000	0.24659	1.198000	0.43158	0.655000	0.94253	CGA		0.284	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660	
TMEM106B	54664	hgsc.bcm.edu	37	7	12258129	12258129	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:12258129G>T	ENST00000396667.3	+	4	585	c.263G>T	c.(262-264)aGa>aTa	p.R88I	TMEM106B_ENST00000396668.3_Missense_Mutation_p.R88I	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	88					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AGTGATCAGAGATTAAGGCCA	0.279																																																	0			7											105.0	105.0	105.0					7																	12258129		2203	4300	6503	12224654	SO:0001583	missense	54664			BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.263G>T	7.37:g.12258129G>T	ENSP00000379901:p.Arg88Ile		12224654	A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844387	0.91197	.	.	ENSG00000106460	ENST00000396668;ENST00000444443;ENST00000396667	T;T;T	0.41758	0.99;0.99;0.99	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.76772	-0.2836	10	0.87932	D	0	.	18.882	0.92358	0.0:0.0:1.0:0.0	.	88	Q9NUM4	T106B_HUMAN	I	88	ENSP00000379902:R88I;ENSP00000401302:R88I;ENSP00000379901:R88I	ENSP00000379901:R88I	R	+	2	0	TMEM106B	12224654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.621000	0.88768	0.650000	0.86243	AGA		0.279	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374	
TSPAN13	27075	hgsc.bcm.edu	37	7	16816718	16816718	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:16816718G>A	ENST00000262067.4	+	3	716	c.283G>A	c.(283-285)Gct>Act	p.A95T	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	95						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		TGTATCTTGCGCTTGTTTAGC	0.328																																																	0			7											119.0	113.0	115.0					7																	16816718		2203	4300	6503	16783243	SO:0001583	missense	27075			AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"""Tetraspanins"""	21643	protein-coding gene	gene with protein product		613139	"""transmembrane 4 superfamily member 13"""	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.283G>A	7.37:g.16816718G>A	ENSP00000262067:p.Ala95Thr		16783243		Missense_Mutation	SNP	ENST00000262067.4	37	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915856	0.92178	.	.	ENSG00000106537	ENST00000262067	T	0.79940	-1.32	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.90721	0.7088	M	0.87682	2.9	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.91481	0.5204	10	0.46703	T	0.11	-22.7223	16.6208	0.84929	0.0:0.1301:0.8699:0.0	.	95	O95857	TSN13_HUMAN	T	95	ENSP00000262067:A95T	ENSP00000262067:A95T	A	+	1	0	TSPAN13	16783243	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.623000	0.83113	1.359000	0.45940	0.561000	0.74099	GCT		0.328	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399	
HOXA2	3199	hgsc.bcm.edu	37	7	27140497	27140497	+	Missense_Mutation	SNP	C	C	T	rs143043350		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:27140497C>T	ENST00000222718.5	-	2	1289	c.979G>A	c.(979-981)Gtt>Att	p.V327I	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000428939.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	327					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GTGGAGAAAACGCTAAAGTCC	0.512													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18540	0.0		0.0	False		,,,				2504	0.0																0			7						C	ILE/VAL	0,4406		0,0,2203	77.0	77.0	77.0		979	5.0	1.0	7	dbSNP_134	77	8,8592	6.4+/-24.3	0,8,4292	yes	missense	HOXA2	NM_006735.3	29	0,8,6495	TT,TC,CC		0.093,0.0,0.0615	probably-damaging	327/377	27140497	8,12998	2203	4300	6503	27107022	SO:0001583	missense	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.979G>A	7.37:g.27140497C>T	ENSP00000222718:p.Val327Ile		27107022	A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976840	0.34848	0.0	9.3E-4	ENSG00000105996	ENST00000222718	T	0.10960	2.82	5.04	5.04	0.67666	.	0.128331	0.52532	D	0.000076	T	0.16300	0.0392	M	0.80616	2.505	0.43457	D	0.995654	P	0.38863	0.65	B	0.30855	0.121	T	0.07654	-1.0761	10	0.33141	T	0.24	.	18.3861	0.90466	0.0:1.0:0.0:0.0	.	327	O43364	HXA2_HUMAN	I	327	ENSP00000222718:V327I	ENSP00000222718:V327I	V	-	1	0	HOXA2	27107022	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	4.605000	0.61119	2.492000	0.84095	0.655000	0.94253	GTT		0.512	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2		
HOXA3	3200	hgsc.bcm.edu	37	7	27150132	27150132	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:27150132C>T	ENST00000396352.4	-	2	327	c.128G>A	c.(127-129)gGc>gAc	p.G43D	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Missense_Mutation_p.G43D	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	43					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTGGTACTCGCCGTCGGCGCC	0.682																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												0			7											16.0	15.0	15.0					7																	27150132		2124	4194	6318	27116657	SO:0001583	missense	3200				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.128G>A	7.37:g.27150132C>T	ENSP00000379640:p.Gly43Asp		27116657	A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589842	0.66105	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000522788;ENST00000522456	T;T;T;T	0.41758	3.38;3.38;0.99;0.99	5.49	5.49	0.81192	.	0.232519	0.49916	D	0.000134	T	0.43411	0.1246	N	0.24115	0.695	0.45216	D	0.998221	D	0.60160	0.987	P	0.54544	0.755	T	0.12372	-1.0550	10	0.13853	T	0.58	.	19.3654	0.94460	0.0:1.0:0.0:0.0	.	43	O43365	HXA3_HUMAN	D	43	ENSP00000379640:G43D;ENSP00000324884:G43D;ENSP00000429426:G43D;ENSP00000430566:G43D	ENSP00000324884:G43D	G	-	2	0	HOXA3	27116657	1.000000	0.71417	0.997000	0.53966	0.760000	0.43138	4.712000	0.61888	2.595000	0.87683	0.462000	0.41574	GGC		0.682	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2		
FAM188B	84182	hgsc.bcm.edu	37	7	30830903	30830903	+	Silent	SNP	G	G	A	rs61741901		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:30830903G>A	ENST00000265299.6	+	5	863	c.786G>A	c.(784-786)tcG>tcA	p.S262S	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	262			S -> L (in dbSNP:rs17159453).							endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTGGCTTCGAGCAACAGCT	0.592																																																	0			7											81.0	89.0	87.0					7																	30830903		1966	4154	6120	30797428	SO:0001819	synonymous_variant	84182			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.786G>A	7.37:g.30830903G>A			30797428	Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	CCDS43565.1																																																																																				0.592	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	
FAM188B	84182	hgsc.bcm.edu	37	7	30898883	30898883	+	Missense_Mutation	SNP	G	G	A	rs561526056		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:30898883G>A	ENST00000265299.6	+	13	1765	c.1688G>A	c.(1687-1689)gGc>gAc	p.G563D	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.G26D|AQP1_ENST00000434909.2_5'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	563										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTGAAGTGGGCCCCTATGGC	0.592													G|||	0	0.0	0.0	0.0	5008	,	,		20712	0.0		0.0	False		,,,				2504	0.0																0			7											107.0	117.0	114.0					7																	30898883		2039	4196	6235	30865408	SO:0001583	missense	84182			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1688G>A	7.37:g.30898883G>A	ENSP00000265299:p.Gly563Asp		30865408	Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390768	0.62066	.	.	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.31769	1.48;1.48	5.26	5.26	0.73747	.	0.051282	0.85682	D	0.000000	T	0.46560	0.1399	L	0.41824	1.3	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.982;0.989	T	0.43376	-0.9395	10	0.87932	D	0	-21.7232	14.3483	0.66682	0.0:0.0:1.0:0.0	.	83;563	B8ZZX1;Q4G0A6	.;F188B_HUMAN	D	563;83;26	ENSP00000265299:G563D;ENSP00000421315:G26D	ENSP00000265299:G563D	G	+	2	0	RP5-877J2.1;FAM188B	30865408	1.000000	0.71417	0.798000	0.32154	0.713000	0.41058	6.005000	0.70716	2.458000	0.83093	0.561000	0.74099	GGC		0.592	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	
BMPER	168667	hgsc.bcm.edu	37	7	34118715	34118715	+	Missense_Mutation	SNP	G	G	A	rs368059451		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:34118715G>A	ENST00000297161.2	+	13	1699	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	BMPER_ENST00000426693.1_Missense_Mutation_p.G442D	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	442	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGCTGGAACGGCTCGCGCATC	0.672																																																	0			7						G	ASP/GLY	0,4406		0,0,2203	65.0	67.0	66.0		1325	5.9	1.0	7		66	1,8597	1.2+/-3.3	0,1,4298	no	missense	BMPER	NM_133468.3	94	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	442/686	34118715	1,13003	2203	4299	6502	34085240	SO:0001583	missense	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1325G>A	7.37:g.34118715G>A	ENSP00000297161:p.Gly442Asp		34085240	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380988	0.95945	0.0	1.16E-4	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.61980	0.06;0.06	5.87	5.87	0.94306	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.78553	0.4301	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.75121	-0.3429	10	0.38643	T	0.18	.	20.2079	0.98282	0.0:0.0:1.0:0.0	.	442	Q8N8U9	BMPER_HUMAN	D	442	ENSP00000297161:G442D;ENSP00000393950:G442D	ENSP00000297161:G442D	G	+	2	0	BMPER	34085240	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.461000	0.97646	2.781000	0.95711	0.655000	0.94253	GGC		0.672	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	
ELMO1	9844	hgsc.bcm.edu	37	7	36910015	36910015	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:36910015C>T	ENST00000310758.4	-	20	2535	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	ELMO1_ENST00000396040.2_Missense_Mutation_p.A150T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A630T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A630T|ELMO1_ENST00000396045.3_Missense_Mutation_p.A150T|ELMO1_ENST00000341056.3_Missense_Mutation_p.A332T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	630	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGTTTAAGGGCACCTTTCTCT	0.453																																																	0			7											190.0	170.0	177.0					7																	36910015		2203	4300	6503	36876540	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1888G>A	7.37:g.36910015C>T	ENSP00000312185:p.Ala630Thr		36876540	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287465	0.80803	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.62723	1.935	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.28202	-1.0051	10	0.30078	T	0.28	.	19.568	0.95403	0.0:1.0:0.0:0.0	.	630	Q92556	ELMO1_HUMAN	T	332;150;630;534;150;630;630	ENSP00000342142:A332T;ENSP00000379360:A150T;ENSP00000312185:A630T;ENSP00000379355:A150T;ENSP00000406952:A630T;ENSP00000394458:A630T	ENSP00000312185:A630T	A	-	1	0	ELMO1	36876540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.441000	0.80485	2.709000	0.92574	0.655000	0.94253	GCC		0.453	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
SFRP4	6424	hgsc.bcm.edu	37	7	37955923	37955923	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:37955923G>A	ENST00000436072.2	-	1	594	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	73	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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						AAGAAGCGCAGCACGGCGCTG	0.637																																																	0			7											148.0	117.0	127.0					7																	37955923		2203	4300	6503	37922448	SO:0001819	synonymous_variant	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.217C>T	7.37:g.37955923G>A			37922448	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	CCDS5453.1																																																																																				0.637	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014	
INHBA	3624	hgsc.bcm.edu	37	7	41729928	41729928	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:41729928T>C	ENST00000242208.4	-	3	847	c.601A>G	c.(601-603)Agg>Ggg	p.R201G	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R201G	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	201					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGTTCACTCCTCTCCCCCTTT	0.587										TSP Lung(11;0.080)																																							0			7											82.0	74.0	77.0					7																	41729928		2203	4300	6503	41696453	SO:0001583	missense	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.601A>G	7.37:g.41729928T>C	ENSP00000242208:p.Arg201Gly		41696453	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839553	0.51057	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64260	-0.09;-0.09	6.06	4.88	0.63580	Transforming growth factor-beta, N-terminal (1);	0.503516	0.23021	N	0.052848	T	0.48960	0.1529	L	0.29908	0.895	0.41012	D	0.985016	B	0.06786	0.001	B	0.06405	0.002	T	0.36163	-0.9759	10	0.19590	T	0.45	-14.8981	13.4032	0.60896	0.0:0.0:0.1312:0.8688	.	201	P08476	INHBA_HUMAN	G	201	ENSP00000242208:R201G;ENSP00000397197:R201G	ENSP00000242208:R201G	R	-	1	2	INHBA	41696453	0.363000	0.24989	1.000000	0.80357	0.998000	0.95712	2.722000	0.47269	1.079000	0.41038	0.533000	0.62120	AGG		0.587	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
GCK	2645	hgsc.bcm.edu	37	7	44184795	44184795	+	Silent	SNP	G	G	A	rs193922274		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:44184795G>A	ENST00000403799.3	-	10	1807	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	GCK_ENST00000395796.3_Silent_p.G445G|GCK_ENST00000345378.2_Silent_p.G447G|GCK_ENST00000437084.1_Silent_p.G429G	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	446	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCGCGCCCCGGCCACTGCCCT	0.667																																																	0			7											19.0	22.0	21.0					7																	44184795		2203	4298	6501	44151320	SO:0001819	synonymous_variant	5871			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1338C>T	7.37:g.44184795G>A			44151320	A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	CCDS5479.1																																																																																				0.667	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2		
TBRG4	9238	hgsc.bcm.edu	37	7	45140958	45140958	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:45140958G>A	ENST00000258770.3	-	10	1814	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	TBRG4_ENST00000395655.4_Missense_Mutation_p.R455W|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000361278.3_Missense_Mutation_p.R455W|TBRG4_ENST00000494076.1_Missense_Mutation_p.R565W	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	565	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						AACTCCCACCGCAAGAACGCT	0.557																																																	0			7											63.0	65.0	64.0					7																	45140958		2202	4300	6502	45107483	SO:0001583	missense	9238			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.1693C>T	7.37:g.45140958G>A	ENSP00000258770:p.Arg565Trp		45107483	A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910751	0.52439	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076	T;T;T;T	0.17528	3.11;2.27;2.27;3.11	4.79	2.86	0.33363	RAP domain (2);	0.247435	0.31381	N	0.007754	T	0.25901	0.0631	L	0.36672	1.1	0.09310	N	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.72338	0.91;0.977;0.809	T	0.03566	-1.1024	10	0.39692	T	0.17	.	7.9073	0.29769	0.0:0.1435:0.3609:0.4956	.	576;455;565	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	W	565;455;455;565	ENSP00000258770:R565W;ENSP00000354992:R455W;ENSP00000379016:R455W;ENSP00000420597:R565W	ENSP00000258770:R565W	R	-	1	2	TBRG4	45107483	0.000000	0.05858	0.705000	0.30386	0.994000	0.84299	0.225000	0.17757	0.523000	0.28482	0.591000	0.81541	CGG		0.557	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900	
IKZF1	10320	hgsc.bcm.edu	37	7	50450341	50450341	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:50450341C>T	ENST00000331340.3	+	5	680	c.525C>T	c.(523-525)tgC>tgT	p.C175C	IKZF1_ENST00000343574.5_Silent_p.C88C|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Silent_p.C88C|IKZF1_ENST00000439701.1_Silent_p.C175C|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000359197.5_Silent_p.C175C|IKZF1_ENST00000440768.2_Silent_p.C175C|IKZF1_ENST00000357364.4_Silent_p.C175C	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	175					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCTTCAAATGCCACCTCTGCA	0.642			"""D,T"""	BCL6	"""ALL, DLBCL"""																																			"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)	7											27.0	33.0	31.0					7																	50450341		2159	4274	6433	50417835	SO:0001819	synonymous_variant	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.525C>T	7.37:g.50450341C>T			50417835	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																					0.642	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
COBL	23242	hgsc.bcm.edu	37	7	51092918	51092918	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:51092918G>T	ENST00000265136.7	-	12	3821	c.3656C>A	c.(3655-3657)gCa>gAa	p.A1219E	COBL_ENST00000395542.2_Missense_Mutation_p.A1301E|RP4-724E13.2_ENST00000582616.1_RNA	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1219					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGTCCTTGGTGCAGAGAGAGC	0.647																																					NSCLC(189;2119 2138 12223 30818 34679)												0			7											39.0	37.0	38.0					7																	51092918		2203	4300	6503	51060412	SO:0001583	missense	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3656C>A	7.37:g.51092918G>T	ENSP00000265136:p.Ala1219Glu		51060412	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	7.628	0.678268	0.14841	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.17528	2.67;2.27;2.67;2.66	5.14	3.0	0.34707	.	1.348390	0.05507	N	0.559453	T	0.20536	0.0494	L	0.47716	1.5	0.09310	N	1	B;B;B;B;P	0.42620	0.13;0.13;0.112;0.178;0.785	B;B;B;B;B	0.43103	0.149;0.149;0.036;0.053;0.408	T	0.22277	-1.0221	10	0.56958	D	0.05	.	7.1426	0.25564	0.2887:0.0:0.7113:0.0	.	1172;1229;1219;1301;761	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	E	1219;1064;1104;1301	ENSP00000265136:A1219E;ENSP00000401204:A1064E;ENSP00000413498:A1104E;ENSP00000378912:A1301E	ENSP00000265136:A1219E	A	-	2	0	COBL	51060412	0.000000	0.05858	0.002000	0.10522	0.146000	0.21551	0.878000	0.28126	1.059000	0.40554	0.650000	0.86243	GCA		0.647	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
ZNF716	441234	hgsc.bcm.edu	37	7	57528706	57528706	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:57528706C>T	ENST00000420713.1	+	4	651	c.539C>T	c.(538-540)aCt>aTt	p.T180I		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						ACAAGACATACTGGAAAGAAA	0.338																																																	0			7											77.0	67.0	70.0					7																	57528706		692	1591	2283	57532648	SO:0001583	missense	441234			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.539C>T	7.37:g.57528706C>T	ENSP00000394248:p.Thr180Ile		57532648		Missense_Mutation	SNP	ENST00000420713.1	37	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751760	0.31046	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.19105	2.17	0.195	0.195	0.15151	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31358	0.0794	L	0.54863	1.705	0.27546	N	0.950642	D	0.69078	0.997	P	0.60012	0.867	T	0.13019	-1.0525	9	0.62326	D	0.03	.	6.2336	0.20750	0.0:0.9997:0.0:3.0E-4	.	168	A6NP11	ZN716_HUMAN	I	180;168	ENSP00000394248:T180I	ENSP00000387687:T168I	T	+	2	0	ZNF716	57532648	0.000000	0.05858	0.075000	0.20258	0.075000	0.17131	0.608000	0.24223	0.300000	0.22699	0.306000	0.20318	ACT		0.338	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279	
GRM3	2913	hgsc.bcm.edu	37	7	86493618	86493618	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:86493618C>T	ENST00000361669.2	+	6	3686	c.2587C>T	c.(2587-2589)Cca>Tca	p.P863S	GRM3_ENST00000439827.1_Missense_Mutation_p.A507V|GRM3_ENST00000394720.2_Missense_Mutation_p.A505V|GRM3_ENST00000536043.1_Missense_Mutation_p.P735S|GRM3_ENST00000546348.1_Missense_Mutation_p.P455S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	863					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CACGTATGTGCCAACGGTGTG	0.448																																					GBM(52;969 1098 3139 52280)												0			7											263.0	217.0	233.0					7																	86493618		2203	4300	6503	86331554	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2587C>T	7.37:g.86493618C>T	ENSP00000355316:p.Pro863Ser		86331554	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.879377|4.879377	0.91740|0.91740	.|.	.|.	ENSG00000198822|ENSG00000198822	ENST00000439827;ENST00000394720|ENST00000361669;ENST00000546348;ENST00000536043	D;D|D;D;D	0.89050|0.88201	-2.46;-2.46|-2.35;-2.24;-2.13	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91623|0.91623	0.7353|0.7353	L|L	0.32530|0.32530	0.975|0.975	0.31519|0.31519	N|N	0.662644|0.662644	B|D;D;D	0.17038|0.89917	0.02|0.999;1.0;1.0	B|D;D;D	0.16289|0.91635	0.015|0.972;0.999;0.998	D|D	0.89127|0.89127	0.3507|0.3507	9|10	0.32370|0.32370	T|T	0.25|0.25	.|.	19.4659|19.4659	0.94939|0.94939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	507|455;735;863	G5E9K2|B7Z204;F5GYZ2;Q14832	.|.;.;GRM3_HUMAN	V|S	507;505|863;455;735	ENSP00000398767:A507V;ENSP00000378209:A505V|ENSP00000355316:P863S;ENSP00000444064:P455S;ENSP00000441407:P735S	ENSP00000378209:A505V|ENSP00000355316:P863S	A|P	+|+	2|1	0|0	GRM3|GRM3	86331554|86331554	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.961000|0.961000	0.63080|0.63080	6.741000|6.741000	0.74837|0.74837	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.448	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
FZD1	8321	hgsc.bcm.edu	37	7	90895699	90895699	+	Missense_Mutation	SNP	G	G	A	rs368484423		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:90895699G>A	ENST00000287934.2	+	1	1917	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	502					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|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-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G502C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTGTTTATCGGCACGTCCTT	0.602																																																	1	Substitution - Missense(1)	lung(1)	7											173.0	153.0	159.0					7																	90895699		2203	4300	6503	90733635	SO:0001583	missense	8321			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1504G>A	7.37:g.90895699G>A	ENSP00000287934:p.Gly502Ser		90733635	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013112	0.93346	.	.	ENSG00000157240	ENST00000287934	D	0.92099	-2.97	4.79	4.79	0.61399	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.97263	0.9105	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98397	1.0566	10	0.87932	D	0	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	502	Q9UP38	FZD1_HUMAN	S	502	ENSP00000287934:G502S	ENSP00000287934:G502S	G	+	1	0	FZD1	90733635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.491000	0.84063	0.655000	0.94253	GGC		0.602	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505	
NPTX2	4885	hgsc.bcm.edu	37	7	98254334	98254334	+	Silent	SNP	C	C	T	rs201376730	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:98254334C>T	ENST00000265634.3	+	3	909	c.744C>T	c.(742-744)taC>taT	p.Y248Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	248	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTGAGCTGTACGCCTTCACCA	0.587													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19127	0.0		0.0	False		,,,				2504	0.001																0			7						C		0,4406		0,0,2203	193.0	151.0	165.0		744	-5.5	0.9	7		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPTX2	NM_002523.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		248/432	98254334	1,13005	2203	4300	6503	98092270	SO:0001819	synonymous_variant	4885				CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.744C>T	7.37:g.98254334C>T			98092270	A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	CCDS5657.1																																																																																				0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
NYAP1	222950	hgsc.bcm.edu	37	7	100084616	100084616	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:100084616C>T	ENST00000300179.2	+	3	400	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NYAP1_ENST00000423930.1_Missense_Mutation_p.R81C|NYAP1_ENST00000454988.1_Missense_Mutation_p.R24C	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	81	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CATGGCCCCACGCTCCCTCTC	0.711																																																	0			7											11.0	14.0	13.0					7																	100084616		2153	4238	6391	99922552	SO:0001583	missense	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.241C>T	7.37:g.100084616C>T	ENSP00000300179:p.Arg81Cys		99922552	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911831	0.92178	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.58210	0.35;0.35;0.35	5.03	5.03	0.67393	.	0.000000	0.51477	D	0.000086	T	0.70789	0.3264	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73711	-0.3897	10	0.87932	D	0	-19.1738	15.8881	0.79269	0.0:1.0:0.0:0.0	.	81	Q6ZVC0	CG051_HUMAN	C	81;81;24	ENSP00000300179:R81C;ENSP00000411861:R81C;ENSP00000394424:R24C	ENSP00000300179:R81C	R	+	1	0	C7orf51	99922552	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.628000	0.74262	2.606000	0.88127	0.462000	0.41574	CGC		0.711	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564	
MOSPD3	64598	hgsc.bcm.edu	37	7	100212789	100212789	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:100212789G>A	ENST00000393950.2	+	5	973	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	MOSPD3_ENST00000223054.4_Missense_Mutation_p.V231M|MOSPD3_ENST00000379527.2_Missense_Mutation_p.V231M|MOSPD3_ENST00000424091.2_Missense_Mutation_p.V221M	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	231					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTCACCATGGTGTTCCTCCG	0.617																																																	0			7											111.0	103.0	106.0					7																	100212789		2203	4300	6503	100050725	SO:0001583	missense	64598			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.691G>A	7.37:g.100212789G>A	ENSP00000377522:p.Val231Met		100050725	A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041079	0.75732	.	.	ENSG00000106330	ENST00000223054;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	.	.	.	4.92	4.92	0.64577	.	0.000000	0.48286	D	0.000189	T	0.69602	0.3129	L	0.49778	1.585	0.45676	D	0.998599	D;D	0.71674	0.998;0.998	D;D	0.81914	0.987;0.995	T	0.71663	-0.4525	9	0.72032	D	0.01	-11.6933	13.4794	0.61326	0.0:0.0:1.0:0.0	.	221;231	C9JE89;O75425	.;MSPD3_HUMAN	M	231;231;231;221;217	.	ENSP00000223054:V231M	V	+	1	0	MOSPD3	100050725	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.921000	0.48852	2.559000	0.86315	0.655000	0.94253	GTG		0.617	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948	
MUC17	140453	hgsc.bcm.edu	37	7	100679543	100679543	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:100679543G>A	ENST00000306151.4	+	3	4910	c.4846G>A	c.(4846-4848)Gct>Act	p.A1616T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1616	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1616T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTACAACCGCTGAAGGTAG	0.502																																																	1	Substitution - Missense(1)	lung(1)	7											200.0	203.0	202.0					7																	100679543		2203	4300	6503	100466263	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4846G>A	7.37:g.100679543G>A	ENSP00000302716:p.Ala1616Thr		100466263	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.466	-0.109007	0.06924	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	0.806	0.806	0.18708	.	.	.	.	.	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B	0.33171	0.4	B	0.17098	0.017	T	0.39143	-0.9628	9	0.02654	T	1	.	5.0545	0.14525	0.0:0.0:1.0:0.0	.	1616	Q685J3	MUC17_HUMAN	T	1616	ENSP00000302716:A1616T	ENSP00000302716:A1616T	A	+	1	0	MUC17	100466263	0.000000	0.05858	0.005000	0.12908	0.020000	0.10135	-4.472000	0.00228	0.772000	0.33382	0.064000	0.15345	GCT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
FBXL13	222235	hgsc.bcm.edu	37	7	102523814	102523814	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:102523814G>A	ENST00000313221.4	-	14	1752	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	FBXL13_ENST00000455112.2_Silent_p.S442S|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Silent_p.S442S|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Silent_p.S442S|FBXL13_ENST00000393772.2_Silent_p.S442S|FBXL13_ENST00000436908.1_Silent_p.S442S	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	442										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATCTGAGGCTGCTGTCTGTTA	0.363																																																	0			7											120.0	113.0	115.0					7																	102523814		2203	4300	6503	102311050	SO:0001819	synonymous_variant	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1326C>T	7.37:g.102523814G>A			102311050	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	37	CCDS5726.1																																																																																				0.363	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032	
RELN	5649	hgsc.bcm.edu	37	7	103234167	103234167	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:103234167C>T	ENST00000428762.1	-	27	4033	c.3874G>A	c.(3874-3876)Gat>Aat	p.D1292N	RELN_ENST00000343529.5_Missense_Mutation_p.D1292N|RELN_ENST00000424685.2_Missense_Mutation_p.D1292N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1292					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGGTCAAATCTCGAGTTACT	0.393																																					NSCLC(146;835 1944 15585 22231 52158)												0			7											170.0	159.0	163.0					7																	103234167		2203	4300	6503	103021403	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3874G>A	7.37:g.103234167C>T	ENSP00000392423:p.Asp1292Asn		103021403	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175135	0.94807	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26957	1.7;1.7;1.7	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	M	0.76170	2.325	0.58432	D	0.999999	P;D	0.69078	0.929;0.997	B;D	0.73380	0.399;0.98	T	0.51949	-0.8640	10	0.62326	D	0.03	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1292;1292	P78509-2;P78509	.;RELN_HUMAN	N	1292	ENSP00000392423:D1292N;ENSP00000345694:D1292N;ENSP00000388446:D1292N	ENSP00000345694:D1292N	D	-	1	0	RELN	103021403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	2.885000	0.99019	0.655000	0.94253	GAT		0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
PIK3CG	5294	hgsc.bcm.edu	37	7	106508432	106508432	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:106508432G>A	ENST00000359195.3	+	2	736	c.426G>A	c.(424-426)ccG>ccA	p.P142P	PIK3CG_ENST00000496166.1_Silent_p.P142P|PIK3CG_ENST00000440650.2_Silent_p.P142P	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	142					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCGGCACCCGCCCTCCGAGG	0.637																																																	0			7											16.0	19.0	18.0					7																	106508432		2200	4286	6486	106295668	SO:0001819	synonymous_variant	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.426G>A	7.37:g.106508432G>A			106295668	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	CCDS5739.1																																																																																				0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
IFRD1	3475	hgsc.bcm.edu	37	7	112090792	112090792	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:112090792G>A	ENST00000403825.3	+	1	310	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	IFRD1_ENST00000429071.1_Missense_Mutation_p.G17S|IFRD1_ENST00000005558.4_Missense_Mutation_p.G17S|IFRD1_ENST00000535603.1_5'Flank	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	17	Poly-Gly.				adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						tagcagtgctggcggcggcgg	0.692																																																	0			7											17.0	20.0	19.0					7																	112090792		2085	4095	6180	111878028	SO:0001583	missense	3475			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.49G>A	7.37:g.112090792G>A	ENSP00000384477:p.Gly17Ser		111878028	B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942021	0.73557	.	.	ENSG00000006652	ENST00000432734;ENST00000005558;ENST00000445335;ENST00000417662;ENST00000403825;ENST00000429071	T;T	0.42513	0.97;0.97	4.98	4.11	0.48088	.	.	.	.	.	T	0.19208	0.0461	N	0.08118	0	0.80722	D	1	B;P	0.42908	0.002;0.793	B;B	0.35655	0.004;0.207	T	0.04664	-1.0935	9	0.11794	T	0.64	-2.3695	12.2318	0.54492	0.0842:0.0:0.9158:0.0	.	17;17	C9JA65;O00458	.;IFRD1_HUMAN	S	17	ENSP00000005558:G17S;ENSP00000384477:G17S	ENSP00000005558:G17S	G	+	1	0	IFRD1	111878028	0.981000	0.34729	0.982000	0.44146	0.993000	0.82548	0.639000	0.24690	1.328000	0.45358	0.591000	0.81541	GGC		0.692	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550	
WNT2	7472	hgsc.bcm.edu	37	7	116960704	116960704	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:116960704C>T	ENST00000265441.3	-	2	526	c.227G>A	c.(226-228)tGc>tAc	p.C76Y	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	76					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTGGTGCTGGCATTCTGCTGT	0.597																																																	0			7											80.0	62.0	68.0					7																	116960704		2203	4300	6503	116747940	SO:0001583	missense	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.227G>A	7.37:g.116960704C>T	ENSP00000265441:p.Cys76Tyr		116747940	A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373323	0.82573	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	D;D	0.91740	-2.9;-2.9	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99023	1.0818	10	0.87932	D	0	.	18.2752	0.90080	0.0:1.0:0.0:0.0	.	76	P09544	WNT2_HUMAN	Y	76	ENSP00000265441:C76Y;ENSP00000419466:C76Y	ENSP00000265441:C76Y	C	-	2	0	WNT2	116747940	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.419000	0.80179	2.604000	0.88044	0.655000	0.94253	TGC		0.597	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391	
CFTR	1080	hgsc.bcm.edu	37	7	117227809	117227809	+	Missense_Mutation	SNP	C	C	T	rs387906368		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:117227809C>T	ENST00000003084.6	+	12	1733	c.1601C>T	c.(1600-1602)gCa>gTa	p.A534V	CFTR_ENST00000454343.1_Missense_Mutation_p.A473V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	534	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TCCAAGTTTGCAGAGAAAGAC	0.353									Cystic Fibrosis																																								0			7	GRCh37	CM930112	CFTR	M							107.0	109.0	109.0					7																	117227809		2203	4300	6503	117015045	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1601C>T	7.37:g.117227809C>T	ENSP00000003084:p.Ala534Val		117015045	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034510	0.75617	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90620	-2.7;-2.7;-2.7	5.06	5.06	0.68205	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.098818	0.64402	D	0.000001	D	0.88183	0.6368	L	0.43701	1.375	0.30372	N	0.782799	B	0.06786	0.001	B	0.04013	0.001	D	0.84410	0.0565	10	0.72032	D	0.01	-7.2422	18.8008	0.92016	0.0:1.0:0.0:0.0	.	534	P13569	CFTR_HUMAN	V	534;473;504	ENSP00000003084:A534V;ENSP00000403677:A473V;ENSP00000389119:A504V	ENSP00000003084:A534V	A	+	2	0	CFTR	117015045	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.901000	0.75693	2.512000	0.84698	0.655000	0.94253	GCA		0.353	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
GCC1	79571	hgsc.bcm.edu	37	7	127222472	127222472	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:127222472C>A	ENST00000321407.2	-	2	2348	c.1924G>T	c.(1924-1926)Gca>Tca	p.A642S	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	642					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGTTGTAATGCTTGGGTCAGG	0.582																																																	0			7											120.0	118.0	119.0					7																	127222472		2203	4300	6503	127009708	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1924G>T	7.37:g.127222472C>A	ENSP00000318821:p.Ala642Ser		127009708	Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249717	0.39797	.	.	ENSG00000179562	ENST00000321407	T	0.13196	2.61	5.49	5.49	0.81192	.	0.105501	0.64402	D	0.000005	T	0.19846	0.0477	L	0.41236	1.265	0.58432	D	0.999998	D	0.67145	0.996	P	0.55923	0.787	T	0.01829	-1.1265	10	0.08381	T	0.77	-5.8489	15.2337	0.73411	0.0:1.0:0.0:0.0	.	642	Q96CN9	GCC1_HUMAN	S	642	ENSP00000318821:A642S	ENSP00000318821:A642S	A	-	1	0	GCC1	127009708	1.000000	0.71417	0.996000	0.52242	0.020000	0.10135	5.219000	0.65262	2.733000	0.93635	0.655000	0.94253	GCA		0.582	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523	
SLC13A4	26266	hgsc.bcm.edu	37	7	135412191	135412191	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:135412191G>A	ENST00000354042.4	-	1	743	c.54C>T	c.(52-54)tgC>tgT	p.C18C	FAM180A_ENST00000435869.1_5'Flank	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	18					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGAGCGGGACGCAGACGACCA	0.701																																																	0			7											28.0	25.0	26.0					7																	135412191		1914	3663	5577	135062731	SO:0001819	synonymous_variant	26266			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.54C>T	7.37:g.135412191G>A			135062731	A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	CCDS5840.1																																																																																				0.701	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450	
EPHB6	2051	hgsc.bcm.edu	37	7	142566291	142566291	+	Missense_Mutation	SNP	C	C	T	rs56021232		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:142566291C>T	ENST00000392957.2	+	15	2867	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	EPHB6_ENST00000411471.2_Missense_Mutation_p.R417W|EPHB6_ENST00000442129.1_Missense_Mutation_p.R694W	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	694	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCACGGGGACGGAGGGAGCA	0.662																																																	0			7											24.0	25.0	24.0					7																	142566291		2193	4288	6481	142276413	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2080C>T	7.37:g.142566291C>T	ENSP00000376684:p.Arg694Trp		142276413	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675241	0.29783	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.83163	-1.69;-1.69;-1.69	4.99	0.433	0.16534	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41001	D	0.000978	D	0.86740	0.6005	L	0.50919	1.6	0.20489	N	0.999892	D;D	0.89917	1.0;1.0	D;P	0.65323	0.934;0.891	T	0.82364	-0.0494	10	0.87932	D	0	.	15.5848	0.76473	0.701:0.299:0.0:0.0	rs56021232	694;417	O15197;O15197-2	EPHB6_HUMAN;.	W	694;694;417	ENSP00000376684:R694W;ENSP00000410789:R694W;ENSP00000409061:R417W	ENSP00000376684:R694W	R	+	1	2	EPHB6	142276413	0.000000	0.05858	0.516000	0.27786	0.039000	0.13416	-0.004000	0.12878	-0.257000	0.09459	-0.448000	0.05591	CGG		0.662	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
TRPV6	55503	hgsc.bcm.edu	37	7	142569516	142569516	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:142569516G>A	ENST00000359396.3	-	15	2367	c.2122C>T	c.(2122-2124)Cgt>Tgt	p.R708C		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	708	Interaction with calmodulin.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATTATCCCACGCAGGTCTCTC	0.567																																																	0			7											72.0	72.0	72.0					7																	142569516		2203	4300	6503	142279638	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2122C>T	7.37:g.142569516G>A	ENSP00000352358:p.Arg708Cys		142279638	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369247	0.24771	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.57273	0.41	5.41	-1.3	0.09259	.	1.216240	0.05804	N	0.612710	T	0.47414	0.1444	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47636	-0.9102	10	0.46703	T	0.11	-4.4072	12.767	0.57396	0.0841:0.0:0.7625:0.1534	.	708	Q9H1D0	TRPV6_HUMAN	C	708;540	ENSP00000352358:R708C	ENSP00000310825:R540C	R	-	1	0	TRPV6	142279638	0.000000	0.05858	0.051000	0.19133	0.471000	0.32888	0.158000	0.16422	-0.085000	0.12573	0.561000	0.74099	CGT		0.567	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
ZYX	7791	hgsc.bcm.edu	37	7	143086972	143086972	+	Missense_Mutation	SNP	G	G	A	rs569088357	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:143086972G>A	ENST00000322764.5	+	9	1861	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I	ZYX_ENST00000449423.2_Missense_Mutation_p.V419I|EPHA1_ENST00000458129.1_5'Flank|ZYX_ENST00000392910.2_Missense_Mutation_p.V349I	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	506	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GAGGTGCTCCGTCTGCTCTGA	0.607													G|||	9	0.00179712	0.0	0.0	5008	,	,		20108	0.0		0.0	False		,,,				2504	0.0092																0			7											99.0	83.0	88.0					7																	143086972		2203	4300	6503	142797094	SO:0001583	missense	7791			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1516G>A	7.37:g.143086972G>A	ENSP00000324422:p.Val506Ile		142797094	A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695800	0.68386	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	4.69	2.87	0.33458	Zinc finger, LIM-type (4);	0.266734	0.31601	U	0.007367	D	0.84795	0.5551	L	0.50993	1.605	0.35379	D	0.789768	P;P	0.51449	0.927;0.945	P;P	0.46208	0.449;0.507	D	0.87051	0.2147	10	0.72032	D	0.01	.	10.9017	0.47056	0.1549:0.0:0.8451:0.0	.	419;506	B4DQR8;Q15942	.;ZYX_HUMAN	I	506;474;419;349	ENSP00000324422:V506I;ENSP00000346417:V474I;ENSP00000394158:V419I;ENSP00000376642:V349I	ENSP00000324422:V506I	V	+	1	0	ZYX	142797094	1.000000	0.71417	0.037000	0.18230	0.844000	0.47949	6.100000	0.71473	0.502000	0.28037	0.313000	0.20887	GTC		0.607	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461	
NOBOX	135935	hgsc.bcm.edu	37	7	144096942	144096942	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:144096942A>G	ENST00000467773.1	-	6	1061	c.1062T>C	c.(1060-1062)aaT>aaC	p.N354N	NOBOX_ENST00000223140.5_Silent_p.N237N|NOBOX_ENST00000483238.1_Silent_p.N322N	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	354					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TGGCCCGGCGATTCTGGAACC	0.547																																																	0			7											69.0	73.0	71.0					7																	144096942		1952	4147	6099	143727875	SO:0001819	synonymous_variant	135935					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1062T>C	7.37:g.144096942A>G			143727875	A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37																																																																																					0.547	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	
EZH2	2146	hgsc.bcm.edu	37	7	148523604	148523604	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:148523604C>T	ENST00000460911.1	-	8	937	c.849G>A	c.(847-849)acG>acA	p.T283T	EZH2_ENST00000476773.1_Silent_p.T274T|EZH2_ENST00000536783.1_Silent_p.T174T|EZH2_ENST00000483967.1_Silent_p.T274T|EZH2_ENST00000350995.2_Silent_p.T244T|EZH2_ENST00000541220.1_Silent_p.T274T|EZH2_ENST00000478654.1_Silent_p.T274T|EZH2_ENST00000320356.2_Silent_p.T283T			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	283	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TACAGAAAAGCGTATGAAAGG	0.398			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0			7											160.0	133.0	142.0					7																	148523604		2203	4300	6503	148154537	SO:0001819	synonymous_variant	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.849G>A	7.37:g.148523604C>T			148154537	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	CCDS56516.1																																																																																				0.398	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	
ZNF425	155054	hgsc.bcm.edu	37	7	148801598	148801598	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:148801598G>A	ENST00000378061.2	-	4	1497	c.1365C>T	c.(1363-1365)aaC>aaT	p.N455N		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	455					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N455N(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGCGCATGGCGTTCCTCCAGA	0.662																																																	1	Substitution - coding silent(1)	endometrium(1)	7											33.0	34.0	34.0					7																	148801598		2203	4300	6503	148432531	SO:0001819	synonymous_variant	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1365C>T	7.37:g.148801598G>A			148432531	B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	CCDS34773.1																																																																																				0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140	
ACTR3B	57180	hgsc.bcm.edu	37	7	152513582	152513582	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:152513582C>T	ENST00000256001.8	+	6	583	c.449C>T	c.(448-450)gCg>gTg	p.A150V	ACTR3B_ENST00000537264.1_Missense_Mutation_p.A62V|ACTR3B_ENST00000488782.1_3'UTR|ACTR3B_ENST00000377776.3_Missense_Mutation_p.A150V|ACTR3B_ENST00000397282.2_Missense_Mutation_p.A62V	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	150						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CTGGCCTTGGCGGCATCTTGG	0.512																																																	0			7											41.0	32.0	35.0					7																	152513582		2203	4299	6502	152144515	SO:0001583	missense	57180				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.449C>T	7.37:g.152513582C>T	ENSP00000256001:p.Ala150Val		152144515	A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	ENST00000256001.8	37	CCDS5934.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418667	0.83559	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	4.65	4.65	0.58169	.	0.000000	0.64402	U	0.000008	D	0.95146	0.8427	M	0.83603	2.65	0.58432	D	0.999995	D;D	0.67145	0.996;0.972	P;P	0.51193	0.662;0.621	D	0.95400	0.8489	10	0.51188	T	0.08	-9.5975	16.5322	0.84364	0.0:1.0:0.0:0.0	.	150;150	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	V	150;150;62;62	ENSP00000367007:A150V;ENSP00000256001:A150V;ENSP00000380452:A62V;ENSP00000446157:A62V	ENSP00000256001:A150V	A	+	2	0	ACTR3B	152144515	1.000000	0.71417	0.037000	0.18230	0.859000	0.49053	7.510000	0.81708	2.132000	0.65825	0.484000	0.47621	GCG		0.512	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445	
DPP6	1804	hgsc.bcm.edu	37	7	154237664	154237664	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:154237664A>G	ENST00000377770.3	+	4	646	c.505A>G	c.(505-507)Aat>Gat	p.N169D	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Missense_Mutation_p.N107D|DPP6_ENST00000404039.1_Missense_Mutation_p.N105D|DPP6_ENST00000332007.3_Missense_Mutation_p.N107D|DPP6_ENST00000406326.1_Missense_Mutation_p.N169D			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	169					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGACTGTGGAATGTTGAAAC	0.358																																					NSCLC(125;1384 1783 2490 7422 34254)												0			7											75.0	71.0	72.0					7																	154237664		1830	4082	5912	153868597	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.505A>G	7.37:g.154237664A>G	ENSP00000367001:p.Asn169Asp		153868597		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	A	13.65	2.299756	0.40694	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.2	4.05	0.47172	.	0.044236	0.85682	N	0.000000	T	0.37598	0.1009	.	.	.	0.49389	D	0.999788	B;B;B;B;B	0.34255	0.005;0.016;0.009;0.445;0.009	B;B;B;B;B	0.36418	0.042;0.032;0.009;0.224;0.014	T	0.28202	-1.0051	9	0.87932	D	0	-27.1198	8.9297	0.35663	0.916:0.0:0.084:0.0	.	107;107;169;169;105	E9PDL2;P42658-2;P42658;Q8IYG9;E9PF59	.;.;DPP6_HUMAN;.;.	D	105;169;169;107;107	ENSP00000385578:N105D;ENSP00000384393:N169D;ENSP00000367001:N169D;ENSP00000328226:N107D;ENSP00000397303:N107D	ENSP00000328226:N107D	N	+	1	0	DPP6	153868597	1.000000	0.71417	0.963000	0.40424	0.944000	0.59088	3.434000	0.52841	0.937000	0.37394	0.460000	0.39030	AAT		0.358	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
DPP6	1804	hgsc.bcm.edu	37	7	154585824	154585824	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:154585824G>A	ENST00000377770.3	+	11	1313	c.1172G>A	c.(1171-1173)aGc>aAc	p.S391N	DPP6_ENST00000427557.1_Missense_Mutation_p.S284N|DPP6_ENST00000404039.1_Missense_Mutation_p.S327N|DPP6_ENST00000332007.3_Missense_Mutation_p.S329N			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	391					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGGGCCACCAGCACCAAGGTC	0.642																																					NSCLC(125;1384 1783 2490 7422 34254)												0			7											42.0	49.0	47.0					7																	154585824		2154	4246	6400	154216757	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1172G>A	7.37:g.154585824G>A	ENSP00000367001:p.Ser391Asn		154216757		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	G	10.64	1.406185	0.25378	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.21	3.32	0.38043	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.041014	0.85682	D	0.000000	T	0.14270	0.0345	N	0.05608	-0.01	0.46725	D	0.999178	B;B;B;B	0.25609	0.024;0.027;0.13;0.034	B;B;B;B	0.28011	0.085;0.046;0.076;0.076	T	0.06807	-1.0806	10	0.06757	T	0.87	-14.9994	11.8691	0.52511	0.0876:0.0:0.9124:0.0	.	284;329;391;327	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	N	327;391;329;284	ENSP00000385578:S327N;ENSP00000367001:S391N;ENSP00000328226:S329N;ENSP00000397303:S284N	ENSP00000328226:S329N	S	+	2	0	DPP6	154216757	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.201000	0.51059	0.899000	0.36444	0.650000	0.86243	AGC		0.642	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
PAXIP1	22976	hgsc.bcm.edu	37	7	154746105	154746105	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:154746105G>A	ENST00000404141.1	-	16	2835	c.2681C>T	c.(2680-2682)gCg>gTg	p.A894V	RP11-5C23.2_ENST00000609134.1_RNA|RP11-5C23.1_ENST00000608064.1_RNA|PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.A894V			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	894	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TGCAGACTCCGCAACCTCTCC	0.498																																																	0			7											47.0	50.0	49.0					7																	154746105		2086	4234	6320	154377038	SO:0001583	missense	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2681C>T	7.37:g.154746105G>A	ENSP00000384048:p.Ala894Val		154377038	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627179	0.28978	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.79749	-1.3;-1.3	4.91	3.99	0.46301	BRCT (4);	0.000000	0.51477	U	0.000081	T	0.71417	0.3337	N	0.17901	0.54	0.51012	D	0.999903	D;D;B	0.63880	0.993;0.976;0.351	P;B;B	0.47044	0.535;0.292;0.029	T	0.71119	-0.4685	10	0.41790	T	0.15	-13.5095	11.7897	0.52063	0.0906:0.0:0.9094:0.0	.	847;860;894	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	V	894;894;718;847	ENSP00000384048:A894V;ENSP00000380376:A894V	ENSP00000319149:A847V	A	-	2	0	PAXIP1	154377038	1.000000	0.71417	0.144000	0.22314	0.004000	0.04260	7.612000	0.82975	0.984000	0.38629	0.650000	0.86243	GCG		0.498	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
SIRPD	128646	hgsc.bcm.edu	37	20	1515073	1515073	+	Nonstop_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:1515073A>G	ENST00000381623.3	-	4	1781	c.592T>C	c.(592-594)Taa>Caa	p.*198Q	SIRPD_ENST00000381621.1_Nonstop_Mutation_p.*199Q			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	0						extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGTTTGGATTATTTTGACAGC	0.353																																																	0			20											148.0	141.0	143.0					20																	1515073		2203	4300	6503	1463073	SO:0001578	stop_lost	128646			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.592T>C	20.37:g.1515073A>G	ENSP00000371036:p.*198Gluext*42		1463073	B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	A	4.458	0.084917	0.08583	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	.	.	.	1.71	0.495	0.16890	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7122	0.08424	0.6167:0.0:0.0:0.3832	.	.	.	.	Q	198;199	.	.	X	-	1	0	SIRPD	1463073	0.001000	0.12720	0.012000	0.15200	0.509000	0.34042	-0.423000	0.07034	0.100000	0.17581	0.459000	0.35465	TAA		0.353	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460	
SIRPB1	10326	hgsc.bcm.edu	37	20	1559074	1559074	+	Missense_Mutation	SNP	C	C	T	rs201259964		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:1559074C>T	ENST00000381605.4	-	2	407	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	SIRPB1_ENST00000262929.5_Missense_Mutation_p.A114T|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.A115T|SIRPB1_ENST00000381603.3_Missense_Mutation_p.A115T	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	115	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAGGTGCCGGCGTCTGCTGGG	0.527																																																	0			20						C	THR/ALA,THR/ALA	0,4398		0,0,2199	214.0	184.0	194.0		343,343	-1.2	0.2	20		194	2,8508		0,2,4253	no	missense,missense	SIRPB1	NM_001083910.2,NM_006065.3	58,58	0,2,6452	TT,TC,CC		0.0235,0.0,0.0155	benign,benign	115/182,115/399	1559074	2,12906	2199	4255	6454	1507074	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.343G>A	20.37:g.1559074C>T	ENSP00000371018:p.Ala115Thr		1507074	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	7.257	0.604417	0.14002	0.0	2.35E-4	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.62788	-0.0;-0.0;-0.0	2.36	-1.25	0.09405	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.520465	0.19067	N	0.123609	T	0.35158	0.0922	N	0.25957	0.775	0.19300	N	0.999971	P;B	0.36144	0.539;0.158	B;B	0.27500	0.08;0.056	T	0.20605	-1.0270	10	0.22109	T	0.4	.	5.3744	0.16156	0.0:0.3344:0.0:0.6656	.	115;115	O00241;O00241-2	SIRB1_HUMAN;.	T	115;115;114	ENSP00000371018:A115T;ENSP00000371016:A115T;ENSP00000262929:A114T	ENSP00000262929:A114T	A	-	1	0	SIRPB1	1507074	0.003000	0.15002	0.171000	0.22900	0.874000	0.50279	-1.098000	0.03346	-0.136000	0.11475	0.462000	0.41574	GCC		0.527	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	
SIRPG	55423	hgsc.bcm.edu	37	20	1617037	1617037	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:1617037C>A	ENST00000303415.3	-	3	609	c.545G>T	c.(544-546)tGg>tTg	p.W182L	SIRPG_ENST00000381580.1_Missense_Mutation_p.W149L|SIRPG_ENST00000216927.4_Missense_Mutation_p.W182L|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Missense_Mutation_p.W182L|RP11-77C3.3_ENST00000437384.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	182	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ATTTTTGAACCATTTCAGGGT	0.567																																																	0			20											179.0	160.0	167.0					20																	1617037		2203	4300	6503	1565037	SO:0001583	missense	55423			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.545G>T	20.37:g.1617037C>A	ENSP00000305529:p.Trp182Leu		1565037	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	16.10	3.027743	0.54790	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.04194	3.68;3.68;3.68;3.68	2.09	2.09	0.27110	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000034	T	0.26304	0.0642	H	0.96333	3.805	0.40037	D	0.975603	D;D	0.76494	0.998;0.999	D;D	0.71656	0.935;0.974	T	0.12553	-1.0543	10	0.87932	D	0	.	7.6109	0.28129	0.0:1.0:0.0:0.0	.	182;182	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	L	149;182;182;182	ENSP00000370992:W149L;ENSP00000305529:W182L;ENSP00000370995:W182L;ENSP00000216927:W182L	ENSP00000216927:W182L	W	-	2	0	SIRPG	1565037	1.000000	0.71417	0.948000	0.38648	0.398000	0.30690	3.048000	0.49862	1.148000	0.42385	0.404000	0.27445	TGG		0.567	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	
PDYN	5173	hgsc.bcm.edu	37	20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T	rs377075531		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTATTTGCGCAAAAAGCC	0.602																																																	0			20											99.0	103.0	102.0					20																	1961195		2203	4300	6503	1909195	SO:0001583	missense	5173				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.539G>A	20.37:g.1961195C>T	ENSP00000217305:p.Arg180His		1909195	A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772531	0.90108	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:1.0:0.0:0.0	.	180	P01213	PDYN_HUMAN	H	180	ENSP00000440185:R180H;ENSP00000442259:R180H;ENSP00000217305:R180H	ENSP00000217305:R180H	R	-	2	0	PDYN	1909195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.652000	0.61454	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2		
TGM3	7053	hgsc.bcm.edu	37	20	2320521	2320521	+	Missense_Mutation	SNP	C	C	T	rs370607077	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:2320521C>T	ENST00000381458.5	+	12	1885	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	608					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGCTCGTGTGCGGAAGCCTGT	0.632													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13698	0.0		0.0	False		,,,				2504	0.001																0			20						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	73.0	78.0		1822	0.3	0.1	20		78	0,8600		0,0,4300	no	missense	TGM3	NM_003245.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	608/694	2320521	1,13005	2203	4300	6503	2268521	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1822C>T	20.37:g.2320521C>T	ENSP00000370867:p.Arg608Trp		2268521	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366131	0.61513	2.27E-4	0.0	ENSG00000125780	ENST00000381458	T	0.69040	-0.37	5.26	0.351	0.16042	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	1.405290	0.04301	N	0.347352	T	0.59878	0.2226	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	P	0.47864	0.559	T	0.55730	-0.8095	10	0.72032	D	0.01	-8.4543	7.9084	0.29776	0.5464:0.3121:0.1415:0.0	.	608	Q08188	TGM3_HUMAN	W	608	ENSP00000370867:R608W	ENSP00000370867:R608W	R	+	1	2	TGM3	2268521	0.000000	0.05858	0.130000	0.21974	0.035000	0.12851	-0.450000	0.06803	0.553000	0.29044	0.561000	0.74099	CGG		0.632	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
C20orf196	149840	hgsc.bcm.edu	37	20	5843794	5843794	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:5843794A>T	ENST00000303142.6	+	3	390	c.303A>T	c.(301-303)agA>agT	p.R101S		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	101										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						CCCTGGATAGATTCTATGAAA	0.488																																																	0			20											72.0	74.0	74.0					20																	5843794		2203	4300	6503	5791794	SO:0001583	missense	149840			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.303A>T	20.37:g.5843794A>T	ENSP00000305875:p.Arg101Ser		5791794	A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	a	7.853	0.724334	0.15439	.	.	ENSG00000171984	ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185	T;T;T	0.46063	0.88;0.88;0.88	5.5	-1.53	0.08611	.	0.704221	0.13552	N	0.379390	T	0.31295	0.0792	L	0.42245	1.32	0.22500	N	0.99905	P	0.36909	0.573	B	0.39217	0.294	T	0.23297	-1.0192	10	0.66056	D	0.02	-5.5677	5.0773	0.14638	0.512:0.0:0.3437:0.1443	.	101	Q8IYI0	CT196_HUMAN	S	101;101;101;148	ENSP00000305875:R101S;ENSP00000399331:R101S;ENSP00000410534:R148S	ENSP00000305875:R101S	R	+	3	2	C20orf196	5791794	0.010000	0.17322	0.775000	0.31657	0.120000	0.20174	-0.205000	0.09411	-0.129000	0.11620	-0.377000	0.06932	AGA		0.488	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504	
CST5	1473	hgsc.bcm.edu	37	20	23860294	23860294	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:23860294G>A	ENST00000304710.4	-	1	93	c.20C>T	c.(19-21)aCc>aTc	p.T7I		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	7					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						CAGCAGTGGGGTGTGCATGGG	0.607																																																	0			20											50.0	46.0	48.0					20																	23860294		2203	4300	6503	23808294	SO:0001583	missense	1473				CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.20C>T	20.37:g.23860294G>A	ENSP00000307132:p.Thr7Ile		23808294	Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	g	4.053	0.007452	0.07866	.	.	ENSG00000170367	ENST00000304710	T	0.09723	2.95	1.47	-0.667	0.11395	.	1.514020	0.03811	N	0.265914	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.36529	-0.9744	10	0.20519	T	0.43	.	4.0552	0.09813	0.429:0.0:0.571:0.0	.	7	P28325	CYTD_HUMAN	I	7	ENSP00000307132:T7I	ENSP00000307132:T7I	T	-	2	0	CST5	23808294	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.152000	0.10159	-0.188000	0.10499	0.443000	0.29094	ACC		0.607	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900	
BPIFA2	140683	hgsc.bcm.edu	37	20	31757090	31757090	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:31757090G>A	ENST00000253362.2	+	2	285	c.139G>A	c.(139-141)Gtt>Att	p.V47I	BPIFA2_ENST00000354932.5_Missense_Mutation_p.V47I			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	47						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										ACTTGAGACAGTTGACAATAC	0.463																																																	0			20											131.0	109.0	117.0					20																	31757090		2203	4300	6503	31220751	SO:0001583	missense	140683			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.139G>A	20.37:g.31757090G>A	ENSP00000253362:p.Val47Ile		31220751	Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	G	0.488	-0.876665	0.02550	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.14766	2.48;2.48	3.98	-2.99	0.05497	.	0.834058	0.10049	N	0.722475	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.43605	-0.9381	10	0.07175	T	0.84	-1.2677	4.5032	0.11874	0.3685:0.2977:0.3338:0.0	.	47	Q96DR5	BPIA2_HUMAN	I	47	ENSP00000253362:V47I;ENSP00000347012:V47I	ENSP00000253362:V47I	V	+	1	0	BPIFA2	31220751	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.012000	0.03649	-0.545000	0.06224	-0.137000	0.14449	GTT		0.463	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574	
SOGA1	140710	hgsc.bcm.edu	37	20	35443677	35443677	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:35443677T>A	ENST00000357779.3	-	5	1780	c.1454A>T	c.(1453-1455)gAg>gTg	p.E485V	SOGA1_ENST00000237536.4_Missense_Mutation_p.E723V|SOGA1_ENST00000456801.2_Missense_Mutation_p.E326V|SOGA1_ENST00000279034.6_Missense_Mutation_p.E485V			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	485					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGCATTCAGCTCCTGCTGCAG	0.642																																																	0			20											53.0	61.0	58.0					20																	35443677		2200	4299	6499	34877091	SO:0001583	missense	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1454A>T	20.37:g.35443677T>A	ENSP00000350424:p.Glu485Val		34877091	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	T	19.08	3.757153	0.69648	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.23950	1.93;1.88;1.91;1.93	5.04	5.04	0.67666	.	0.118537	0.56097	D	0.000025	T	0.49847	0.1581	M	0.69823	2.125	0.48975	D	0.999733	D	0.89917	1.0	D	0.85130	0.997	T	0.52704	-0.8540	10	0.66056	D	0.02	-37.2366	13.9024	0.63812	0.0:0.0:0.0:1.0	.	485	O94964-4	.	V	723;485;326;485	ENSP00000237536:E723V;ENSP00000279034:E485V;ENSP00000413886:E326V;ENSP00000350424:E485V	ENSP00000237536:E723V	E	-	2	0	KIAA0889	34877091	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	4.809000	0.62591	2.125000	0.65367	0.459000	0.35465	GAG		0.642	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	
KIAA1755	85449	hgsc.bcm.edu	37	20	36874451	36874451	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:36874451G>A	ENST00000279024.4	-	2	352	c.81C>T	c.(79-81)acC>acT	p.T27T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	27										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GACCCAGGACGGTGGGTGCTG	0.642																																																	0			20											61.0	54.0	57.0					20																	36874451		2203	4300	6503	36307865	SO:0001819	synonymous_variant	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.81C>T	20.37:g.36874451G>A			36307865	Q9C0A8	Silent	SNP	ENST00000279024.4	37	CCDS33467.1																																																																																				0.642	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864	
STK4	6789	hgsc.bcm.edu	37	20	43703740	43703740	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:43703740C>T	ENST00000372806.3	+	11	1482	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.R408W	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	463	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGAAGAGATCCGGCAGAAGTA	0.552																																					GBM(187;1039 2137 11798 21916 33213)												0			20											55.0	53.0	54.0					20																	43703740		2203	4300	6503	43137154	SO:0001583	missense	6789				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1387C>T	20.37:g.43703740C>T	ENSP00000361892:p.Arg463Trp		43137154	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732431	0.89482	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.76448	-1.02;-0.07	5.99	5.05	0.67936	SARAH domain (1);SARAH (1);	0.063318	0.64402	D	0.000005	D	0.86777	0.6014	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.977	D	0.87504	0.2435	10	0.87932	D	0	.	14.6609	0.68870	0.0:0.9309:0.0:0.0691	.	408;463	F5H5B4;Q13043	.;STK4_HUMAN	W	463;408	ENSP00000361892:R463W;ENSP00000443514:R408W	ENSP00000361892:R463W	R	+	1	2	STK4	43137154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.570000	0.60872	2.847000	0.97988	0.655000	0.94253	CGG		0.552	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282	
KCNS1	3787	hgsc.bcm.edu	37	20	43726379	43726379	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:43726379C>T	ENST00000306117.1	-	4	1430	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	KCNS1_ENST00000537075.1_Missense_Mutation_p.R345H	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	345					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCGCATGAGGCGGAACACCTG	0.657																																																	0			20											59.0	47.0	51.0					20																	43726379		2203	4299	6502	43159793	SO:0001583	missense	3787			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1034G>A	20.37:g.43726379C>T	ENSP00000307694:p.Arg345His		43159793	A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089941	0.94149	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.99239	-5.61;-5.61	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.97829	4.085	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	D	0.97270	0.9910	10	0.87932	D	0	.	18.9863	0.92771	0.0:1.0:0.0:0.0	.	345	Q96KK3	KCNS1_HUMAN	H	345	ENSP00000307694:R345H;ENSP00000445595:R345H	ENSP00000307694:R345H	R	-	2	0	KCNS1	43159793	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	5.867000	0.69597	2.490000	0.84030	0.561000	0.74099	CGC		0.657	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251	
NCOA5	57727	hgsc.bcm.edu	37	20	44698976	44698976	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:44698976C>T	ENST00000290231.6	-	3	402	c.238G>A	c.(238-240)Gac>Aac	p.D80N		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	80	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TCCCGAACGTCGCGCACACTC	0.537																																																	0			20											137.0	130.0	132.0					20																	44698976		2203	4300	6503	44132383	SO:0001583	missense	57727				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.238G>A	20.37:g.44698976C>T	ENSP00000290231:p.Asp80Asn		44132383	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827018	0.50739	.	.	ENSG00000124160	ENST00000290231	T	0.59224	0.28	5.17	5.17	0.71159	.	0.100788	0.64402	D	0.000003	T	0.59445	0.2194	M	0.71036	2.16	0.36327	D	0.858623	P	0.34780	0.468	B	0.33295	0.161	T	0.70040	-0.4981	10	0.56958	D	0.05	-3.4659	17.8426	0.88719	0.0:1.0:0.0:0.0	.	80	Q9HCD5	NCOA5_HUMAN	N	80	ENSP00000290231:D80N	ENSP00000290231:D80N	D	-	1	0	NCOA5	44132383	0.998000	0.40836	0.945000	0.38365	0.027000	0.11550	5.837000	0.69381	2.684000	0.91462	0.650000	0.86243	GAC		0.537	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967	
OCSTAMP	128506	hgsc.bcm.edu	37	20	45170278	45170278	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:45170278G>A	ENST00000279028.2	-	3	1349	c.1336C>T	c.(1336-1338)Cac>Tac	p.H446Y		NM_080721.1	NP_542452.1	Q9BR26	OCSTP_HUMAN	osteoclast stimulatory transmembrane protein	446					cellular response to estrogen stimulus (GO:0071391)|cellular response to tumor necrosis factor (GO:0071356)|multinuclear osteoclast differentiation (GO:0072674)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of osteoclast proliferation (GO:0090290)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						AGCCGGGCGTGCAGGTGGCGG	0.697																																																	0			20											26.0	32.0	30.0					20																	45170278		692	1591	2283	44603685	SO:0001583	missense	128506			AL034424	CCDS54468.1	20q13.12	2012-03-27	2012-03-27	2012-03-27	ENSG00000149635	ENSG00000149635			16116	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 123"""	C20orf123		18064667	Standard	NM_080721		Approved	dJ257E24.3	uc010zxu.2	Q9BR26	OTTHUMG00000032652	ENST00000279028.2:c.1336C>T	20.37:g.45170278G>A	ENSP00000279028:p.His446Tyr		44603685		Missense_Mutation	SNP	ENST00000279028.2	37	CCDS54468.1	.	.	.	.	.	.	.	.	.	.	G	4.400	0.073873	0.08485	.	.	ENSG00000149635	ENST00000279028	T	0.26067	1.76	5.06	4.04	0.47022	Dendritic cell-specific transmembrane protein-like (1);	0.800434	0.11546	N	0.553298	T	0.11707	0.0285	N	0.14661	0.345	0.09310	N	1	B	0.25850	0.136	B	0.24701	0.055	T	0.35943	-0.9768	10	0.05833	T	0.94	-7.986	5.8013	0.18416	0.168:0.0:0.832:0.0	.	446	Q9BR26	CT123_HUMAN	Y	446	ENSP00000279028:H446Y	ENSP00000279028:H446Y	H	-	1	0	C20orf123	44603685	0.102000	0.21896	0.407000	0.26434	0.958000	0.62258	3.342000	0.52159	2.613000	0.88420	0.655000	0.94253	CAC		0.697	OCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079573.2	XM_496476	
STAU1	6780	hgsc.bcm.edu	37	20	47741103	47741103	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:47741103G>A	ENST00000371856.2	-	7	1041	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	STAU1_ENST00000347458.5_Missense_Mutation_p.P130S|STAU1_ENST00000371792.1_Missense_Mutation_p.P130S|STAU1_ENST00000371802.1_Missense_Mutation_p.P136S|STAU1_ENST00000360426.4_Missense_Mutation_p.P130S|STAU1_ENST00000340954.7_Missense_Mutation_p.P130S|STAU1_ENST00000371828.3_Missense_Mutation_p.P136S	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	211	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTCATGTGGGGTGGGCCACTC	0.507																																																	0			20											73.0	79.0	77.0					20																	47741103		2203	4300	6503	47174510	SO:0001583	missense	6780				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.631C>T	20.37:g.47741103G>A	ENSP00000360922:p.Pro211Ser		47174510	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330166	0.95733	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.33	5.33	0.75918	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.83903	0.5355	L	0.50993	1.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85305	0.1075	10	0.87932	D	0	-9.0618	19.0449	0.93015	0.0:0.0:1.0:0.0	.	211;136	O95793;Q5JW29	STAU1_HUMAN;.	S	136;130;211;130;130;130;136;130;136	ENSP00000360893:P136S;ENSP00000345425:P130S;ENSP00000360922:P211S;ENSP00000353604:P130S;ENSP00000323443:P130S;ENSP00000360867:P136S;ENSP00000360857:P130S;ENSP00000416779:P136S	ENSP00000345425:P130S	P	-	1	0	STAU1	47174510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.964000	0.87933	2.492000	0.84095	0.650000	0.86243	CCC		0.507	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453	
KCNG1	3755	hgsc.bcm.edu	37	20	49620871	49620871	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:49620871C>A	ENST00000371571.4	-	3	1532	c.1247G>T	c.(1246-1248)tGg>tTg	p.W416L	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	416					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GACAGCCCACCAGTAGCAGGC	0.647																																																	0			20											75.0	65.0	68.0					20																	49620871		2203	4300	6503	49054278	SO:0001583	missense	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1247G>T	20.37:g.49620871C>A	ENSP00000360626:p.Trp416Leu		49054278	A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888432	0.91814	.	.	ENSG00000026559	ENST00000371571	D	0.97752	-4.52	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98718	1.0707	9	.	.	.	.	19.3567	0.94418	0.0:1.0:0.0:0.0	.	416	Q9UIX4	KCNG1_HUMAN	L	416	ENSP00000360626:W416L	.	W	-	2	0	KCNG1	49054278	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.773000	0.85462	2.578000	0.87016	0.462000	0.41574	TGG		0.647	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237	
SALL4	57167	hgsc.bcm.edu	37	20	50400819	50400819	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:50400819C>A	ENST00000217086.4	-	4	3258	c.3147G>T	c.(3145-3147)aaG>aaT	p.K1049N	SALL4_ENST00000371539.3_Missense_Mutation_p.K272N|SALL4_ENST00000395997.3_Missense_Mutation_p.K612N	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	1049					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGACCGCAATCTTGTTTTCTT	0.478																																																	0			20											97.0	87.0	90.0					20																	50400819		2203	4300	6503	49834226	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.3147G>T	20.37:g.50400819C>A	ENSP00000217086:p.Lys1049Asn		49834226	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550801	0.65311	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.56776	0.44;0.44;0.44	4.69	3.73	0.42828	.	0.000000	0.42548	D	0.000699	T	0.67429	0.2892	M	0.83118	2.625	0.48696	D	0.999699	D;D;D	0.76494	0.964;0.999;0.999	P;D;D	0.78314	0.784;0.922;0.991	T	0.70605	-0.4826	10	0.87932	D	0	-33.9918	3.1299	0.06419	0.2458:0.5604:0.0:0.1938	.	612;272;1049	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	N	1049;612;272	ENSP00000217086:K1049N;ENSP00000379319:K612N;ENSP00000360594:K272N	ENSP00000217086:K1049N	K	-	3	2	SALL4	49834226	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.138000	0.50570	2.319000	0.78375	0.555000	0.69702	AAG		0.478	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
ZBP1	81030	hgsc.bcm.edu	37	20	56185345	56185345	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:56185345G>A	ENST00000371173.3	-	7	1130	c.953C>T	c.(952-954)gCc>gTc	p.A318V	ZBP1_ENST00000395822.3_Missense_Mutation_p.A243V|ZBP1_ENST00000340462.4_Missense_Mutation_p.A295V|ZBP1_ENST00000343535.4_Missense_Mutation_p.A318V	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	318					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCTCTGGGCGGCTTCCCCCTC	0.577																																																	0			20											197.0	212.0	207.0					20																	56185345		2203	4300	6503	55618751	SO:0001583	missense	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.953C>T	20.37:g.56185345G>A	ENSP00000360215:p.Ala318Val		55618751	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794864	0.02862	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.10960	3.18;2.82;3.18;3.14	3.79	-7.07	0.01563	.	1.647680	0.03506	N	0.218807	T	0.04137	0.0115	N	0.10874	0.06	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.11329	0.002;0.006;0.003	T	0.35847	-0.9772	10	0.11182	T	0.66	-0.575	3.2151	0.06696	0.2192:0.1215:0.5264:0.1329	.	318;243;318	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	V	318;243;295;318;318	ENSP00000360215:A318V;ENSP00000379167:A243V;ENSP00000344954:A295V;ENSP00000340584:A318V	ENSP00000344954:A295V	A	-	2	0	ZBP1	55618751	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.586000	0.02110	-1.459000	0.01914	0.491000	0.48974	GCC		0.577	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
GNAS	2778	hgsc.bcm.edu	37	20	57430215	57430215	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:57430215G>A	ENST00000371100.4	+	1	2447	c.1895G>A	c.(1894-1896)cGc>cAc	p.R632H	GNAS_ENST00000371102.4_Missense_Mutation_p.R632H|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.A569T|GNAS_ENST00000371099.2_Missense_Mutation_p.R632H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AAAGCCTCGCGCTCTCTCAAG	0.622			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0			20											24.0	28.0	26.0					20																	57430215		1988	4164	6152	56863610	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1895G>A	20.37:g.57430215G>A	ENSP00000360141:p.Arg632His		56863610	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.003|0.003	-2.424394|-2.424394	0.00186|0.00186	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000306120|ENST00000371099;ENST00000371100;ENST00000371102;ENST00000349036	.|D;D;D	.|0.90197	.|-2.46;-2.45;-2.63	2.77|2.77	-5.43|-5.43	0.02632|0.02632	.|.	.|3.372340	.|0.01189	.|N	.|0.007277	T|T	0.77054|0.77054	0.4074|0.4074	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.06405	.|0.002	T|T	0.65845|0.65845	-0.6069|-0.6069	6|10	0.23302|0.39692	T|T	0.38|0.17	.|.	1.8904|1.8904	0.03246|0.03246	0.393:0.1235:0.3496:0.1339|0.393:0.1235:0.3496:0.1339	.|.	.|632	.|Q5JWF2	.|GNAS1_HUMAN	T|H	569|632;632;632;5	.|ENSP00000360141:R632H;ENSP00000360143:R632H;ENSP00000265621:R5H	ENSP00000302237:A569T|ENSP00000265621:R5H	A|R	+|+	1|2	0|0	GNAS|GNAS	56863610|56863610	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.185000|-1.185000	0.03073|0.03073	-1.857000|-1.857000	0.01159|0.01159	-1.598000|-1.598000	0.00824|0.00824	GCT|CGC		0.622	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516	
ADRM1	11047	hgsc.bcm.edu	37	20	60882875	60882875	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:60882875G>T	ENST00000253003.2	+	7	893	c.847G>T	c.(847-849)Ggc>Tgc	p.G283C	LAMA5_ENST00000492698.1_5'Flank|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	283					positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GCCAGCAGGCGGCCAGCAAGG	0.667																																																	0			20											9.0	11.0	11.0					20																	60882875		2166	4262	6428	60316270	SO:0001583	missense	11047			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.847G>T	20.37:g.60882875G>T	ENSP00000253003:p.Gly283Cys		60316270	A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	8.389	0.839355	0.16891	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	5.4	-0.284	0.12870	.	0.160129	0.64402	D	0.000019	T	0.40909	0.1136	L	0.50919	1.6	0.38924	D	0.957806	P	0.39424	0.673	B	0.35607	0.206	T	0.29610	-1.0006	9	0.62326	D	0.03	-8.8758	9.1126	0.36737	0.4122:0.0:0.5878:0.0	.	283	Q16186	ADRM1_HUMAN	C	262;283	.	ENSP00000253003:G283C	G	+	1	0	ADRM1	60316270	0.700000	0.27796	0.032000	0.17829	0.166000	0.22503	-0.396000	0.07278	-0.301000	0.08882	0.561000	0.74099	GGC		0.667	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1		
DIDO1	11083	hgsc.bcm.edu	37	20	61513251	61513251	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:61513251C>T	ENST00000266070.4	-	16	4382	c.4057G>A	c.(4057-4059)Ggg>Agg	p.G1353R	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1353					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGGCACCCCGTCCTCTGCT	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0			20											91.0	107.0	101.0					20																	61513251		2203	4300	6503	60983696	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4057G>A	20.37:g.61513251C>T	ENSP00000266070:p.Gly1353Arg		60983696	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637238	0.47049	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09073	3.02;3.02	5.4	3.04	0.35103	.	0.790616	0.10541	N	0.662729	T	0.11196	0.0273	M	0.75447	2.3	0.09310	N	0.999999	B	0.33841	0.428	B	0.24541	0.054	T	0.15093	-1.0449	10	0.62326	D	0.03	-24.5856	9.0535	0.36392	0.0:0.7258:0.0:0.2742	.	1353	Q9BTC0	DIDO1_HUMAN	R	1353	ENSP00000266070:G1353R;ENSP00000378752:G1353R	ENSP00000266070:G1353R	G	-	1	0	DIDO1	60983696	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	1.432000	0.34936	0.516000	0.28340	0.563000	0.77884	GGG		0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
CHRNA4	1137	hgsc.bcm.edu	37	20	61981476	61981476	+	Silent	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:61981476G>T	ENST00000370263.4	-	5	1508	c.1287C>A	c.(1285-1287)ctC>ctA	p.L429L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	429					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCTGAGGAGGGAGCTGGTCGG	0.711																																																	0			20											16.0	14.0	15.0					20																	61981476		2166	4263	6429	61451920	SO:0001819	synonymous_variant	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1287C>A	20.37:g.61981476G>T			61451920	Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	CCDS13517.1																																																																																				0.711	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3		
STMN3	50861	hgsc.bcm.edu	37	20	62273466	62273466	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:62273466C>G	ENST00000370053.1	-	4	559	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	STMN3_ENST00000540534.1_Missense_Mutation_p.E149Q	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	160	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)	p.E160K(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCACCTTCTCGCGCAGCCGC	0.756																																																	1	Substitution - Missense(1)	lung(1)	20											13.0	13.0	13.0					20																	62273466		2181	4279	6460	61743910	SO:0001583	missense	50861			AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.478G>C	20.37:g.62273466C>G	ENSP00000359070:p.Glu160Gln		61743910	B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	ENST00000370053.1	37	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.200670	0.79015	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.27	5.27	0.74061	.	0.178523	0.34156	U	0.004207	D	0.83078	0.5176	M	0.82056	2.57	0.58432	D	0.999993	D	0.76494	0.999	D	0.81914	0.995	D	0.84481	0.0605	9	0.54805	T	0.06	-8.596	18.931	0.92566	0.0:1.0:0.0:0.0	.	160	Q9NZ72	STMN3_HUMAN	Q	160;149	.	ENSP00000359070:E160Q	E	-	1	0	STMN3	61743910	1.000000	0.71417	0.982000	0.44146	0.028000	0.11728	5.765000	0.68834	2.474000	0.83562	0.580000	0.79431	GAG		0.756	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894	
ABHD16B	140701	hgsc.bcm.edu	37	20	62493445	62493445	+	Silent	SNP	C	C	T	rs569049140	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:62493445C>T	ENST00000369916.3	+	1	880	c.552C>T	c.(550-552)taC>taT	p.Y184Y	C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	184							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CGGGCTTCTACGAGATGGGCT	0.677													C|||	2	0.000399361	0.0	0.0	5008	,	,		14205	0.002		0.0	False		,,,				2504	0.0																0			20											31.0	31.0	31.0					20																	62493445		2202	4300	6502	61963889	SO:0001819	synonymous_variant	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.552C>T	20.37:g.62493445C>T			61963889		Silent	SNP	ENST00000369916.3	37	CCDS13539.1																																																																																				0.677	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1		
PIWIL3	440822	hgsc.bcm.edu	37	22	25120966	25120966	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:25120966G>A	ENST00000332271.5	-	18	2562	c.2146C>T	c.(2146-2148)Cca>Tca	p.P716S	PIWIL3_ENST00000527701.1_Missense_Mutation_p.P598S|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.P598S	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	716	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACAGAATGTGGCATCGATGAT	0.418																																																	0			22											127.0	108.0	114.0					22																	25120966		2203	4300	6503	23450966	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2146C>T	22.37:g.25120966G>A	ENSP00000330031:p.Pro716Ser		23450966		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258484	0.59321	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.44881	0.91;0.91;0.91	3.11	3.11	0.35812	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	H	0.98155	4.16	0.50813	D	0.999896	D;D;D	0.89917	0.977;1.0;0.999	D;D;D	0.97110	0.919;1.0;0.994	D	0.83716	0.0190	10	0.87932	D	0	-6.5441	12.0505	0.53503	0.0:0.0:1.0:0.0	.	598;707;716	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	S	716;598;598	ENSP00000330031:P716S;ENSP00000431843:P598S;ENSP00000435718:P598S	ENSP00000330031:P716S	P	-	1	0	PIWIL3	23450966	1.000000	0.71417	0.014000	0.15608	0.018000	0.09664	4.458000	0.60095	1.760000	0.52011	0.555000	0.69702	CCA		0.418	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
MYO18B	84700	hgsc.bcm.edu	37	22	26342201	26342201	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:26342201G>A	ENST00000407587.2	+	35	5788	c.5619G>A	c.(5617-5619)acG>acA	p.T1873T	MYO18B_ENST00000335473.7_Silent_p.T1872T|MYO18B_ENST00000536101.1_Silent_p.T1872T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1872	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAACATGACGCGGAACAAGA	0.607																																																	0			22											45.0	54.0	51.0					22																	26342201		2104	4213	6317	24672201	SO:0001819	synonymous_variant	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5619G>A	22.37:g.26342201G>A			24672201	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																					0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
EWSR1	2130	hgsc.bcm.edu	37	22	29674169	29674169	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:29674169C>T	ENST00000397938.2	+	5	696	c.377C>T	c.(376-378)gCc>gTc	p.A126V	EWSR1_ENST00000406548.1_Missense_Mutation_p.A126V|EWSR1_ENST00000331029.7_Missense_Mutation_p.A126V|EWSR1_ENST00000332050.6_Missense_Mutation_p.A126V|EWSR1_ENST00000332035.6_Missense_Mutation_p.A126V|EWSR1_ENST00000333395.6_Missense_Mutation_p.A126V|EWSR1_ENST00000414183.2_Missense_Mutation_p.A132V	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	126	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCTTATCCAGCCTATGGGCAG	0.527			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0			22											38.0	35.0	36.0					22																	29674169		2203	4300	6503	28004169	SO:0001583	missense	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.377C>T	22.37:g.29674169C>T	ENSP00000381031:p.Ala126Val		28004169	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587823	0.66105	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000436425;ENST00000447973;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000455726;ENST00000332035	T;T;T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.07	5.07	0.68467	.	0.434432	0.21633	U	0.071454	D	0.82444	0.5038	L	0.43152	1.355	0.21802	N	0.99954	B;B;D;B;B	0.56521	0.004;0.004;0.976;0.004;0.005	B;B;P;B;B	0.57244	0.015;0.015;0.816;0.015;0.005	T	0.76542	-0.2921	10	0.66056	D	0.02	.	18.812	0.92061	0.0:1.0:0.0:0.0	.	126;126;132;126;126	Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;EWS_HUMAN;.	V	126;126;133;132;126;127;51;126;132;126;126;126	ENSP00000330896:A126V;ENSP00000381031:A126V;ENSP00000406824:A133V;ENSP00000405947:A132V;ENSP00000385726:A126V;ENSP00000412670:A127V;ENSP00000330516:A126V;ENSP00000400142:A132V;ENSP00000327456:A126V;ENSP00000393637:A126V;ENSP00000331699:A126V	ENSP00000330516:A126V	A	+	2	0	EWSR1	28004169	0.234000	0.23783	0.984000	0.44739	0.999000	0.98932	3.479000	0.53165	2.494000	0.84150	0.650000	0.86243	GCC		0.527	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243	
LIMK2	3985	hgsc.bcm.edu	37	22	31658225	31658225	+	Splice_Site	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:31658225G>T	ENST00000331728.4	+	6	771	c.657G>T	c.(655-657)gaG>gaT	p.E219D	LIMK2_ENST00000340552.4_Splice_Site_p.E198D|LIMK2_ENST00000406516.1_Splice_Site_p.E141D|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Splice_Site_p.E198D	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	219	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAGTGGAGGAGGTAGAGTGTG	0.552																																																	0			22											104.0	101.0	102.0					22																	31658225		2203	4300	6503	29988225	SO:0001630	splice_region_variant	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.657+1G>T	22.37:g.31658225G>T			29988225	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	G	36	5.624364	0.96660	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.62	5.62	0.85841	PDZ/DHR/GLGF (4);	0.050458	0.85682	D	0.000000	T	0.63010	0.2475	M	0.64997	1.995	0.80722	D	1	P;P;P;B	0.52463	0.888;0.953;0.908;0.314	P;D;D;B	0.65773	0.865;0.938;0.917;0.378	T	0.63033	-0.6727	10	0.62326	D	0.03	-40.3306	18.6466	0.91413	0.0:0.0:1.0:0.0	.	251;198;219;141	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	D	141;219;251;198;198	ENSP00000384602:E141D;ENSP00000332687:E219D;ENSP00000330470:E198D;ENSP00000339916:E198D	ENSP00000332687:E219D	E	+	3	2	LIMK2	29988225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.611000	0.82962	2.646000	0.89796	0.655000	0.94253	GAG		0.552	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733	Missense_Mutation
C22orf42	150297	hgsc.bcm.edu	37	22	32547481	32547481	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:32547481G>A	ENST00000382097.3	-	5	530	c.458C>T	c.(457-459)tCa>tTa	p.S153L	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	153										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TACAATATCTGACGTTATATT	0.418																																																	0			22											111.0	98.0	102.0					22																	32547481		2203	4300	6503	30877481	SO:0001583	missense	150297			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.458C>T	22.37:g.32547481G>A	ENSP00000371529:p.Ser153Leu		30877481	A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	4.608	0.112959	0.08831	.	.	ENSG00000205856	ENST00000382097	T	0.29397	1.57	0.81	-1.62	0.08372	.	.	.	.	.	T	0.17746	0.0426	N	0.08118	0	0.09310	N	1	P	0.37500	0.597	P	0.46110	0.504	T	0.21109	-1.0255	9	0.87932	D	0	.	1.6802	0.02830	0.2689:0.0:0.4058:0.3253	.	153	Q6IC83	CV042_HUMAN	L	153	ENSP00000371529:S153L	ENSP00000371529:S153L	S	-	2	0	C22orf42	30877481	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.248000	0.18198	-0.826000	0.04284	0.297000	0.19635	TCA		0.418	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859	
SLC5A4	6527	hgsc.bcm.edu	37	22	32629009	32629009	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:32629009G>A	ENST00000266086.4	-	9	909	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	300					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CACAGGCAGCGCTGCACAATG	0.532																																																	0			22											101.0	69.0	80.0					22																	32629009		2203	4300	6503	30959009	SO:0001583	missense	6527			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.898C>T	22.37:g.32629009G>A	ENSP00000266086:p.Arg300Cys		30959009	O15279	Missense_Mutation	SNP	ENST00000266086.4	37	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	15.19	2.759355	0.49468	.	.	ENSG00000100191	ENST00000266086	D	0.96200	-3.94	4.69	3.59	0.41128	.	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98052	1.0388	10	0.87932	D	0	.	12.0383	0.53438	0.0:0.0:0.8271:0.1729	.	300	Q9NY91	SC5A4_HUMAN	C	300	ENSP00000266086:R300C	ENSP00000266086:R300C	R	-	1	0	SLC5A4	30959009	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	3.376000	0.52417	2.597000	0.87782	0.563000	0.77884	CGC		0.532	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	
APOL1	8542	hgsc.bcm.edu	37	22	36661550	36661550	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:36661550T>C	ENST00000397278.3	+	6	897	c.668T>C	c.(667-669)aTt>aCt	p.I223T	APOL1_ENST00000347595.7_Missense_Mutation_p.I102T|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.I205T|APOL1_ENST00000319136.4_Missense_Mutation_p.I239T|APOL1_ENST00000422706.1_Missense_Mutation_p.I223T|APOL1_ENST00000397279.4_Missense_Mutation_p.I223T	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	223					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TTGACCGGGATTACCAGCAGT	0.557																																																	0			22											99.0	96.0	97.0					22																	36661550		2203	4300	6503	34991496	SO:0001583	missense	8542			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.668T>C	22.37:g.36661550T>C	ENSP00000380448:p.Ile223Thr		34991496	A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	t	8.900	0.956196	0.18507	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000347595;ENST00000397279	T;T;T;T;T;T	0.05717	3.4;3.4;3.4;3.4;3.4;3.4	3.42	1.16	0.20824	.	1.224690	0.05503	N	0.558711	T	0.06645	0.0170	L	0.41573	1.285	0.09310	N	1	B;B;B	0.33883	0.43;0.43;0.376	B;B;B	0.31869	0.137;0.137;0.084	T	0.39742	-0.9599	10	0.56958	D	0.05	.	5.3469	0.16014	0.0:0.2487:0.0:0.7513	.	205;223;239	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	T	223;223;205;239;102;223	ENSP00000380448:I223T;ENSP00000411507:I223T;ENSP00000388477:I205T;ENSP00000317674:I239T;ENSP00000216178:I102T;ENSP00000380449:I223T	ENSP00000317674:I239T	I	+	2	0	APOL1	34991496	0.006000	0.16342	0.000000	0.03702	0.018000	0.09664	1.772000	0.38552	-0.022000	0.13986	0.172000	0.16884	ATT		0.557	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343	
CSF2RB	1439	hgsc.bcm.edu	37	22	37328934	37328934	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:37328934G>A	ENST00000403662.3	+	9	1362	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	CSF2RB_ENST00000536485.1_Silent_p.T327T|CSF2RB_ENST00000406230.1_Silent_p.T386T|CSF2RB_ENST00000262825.5_Silent_p.T386T			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	380	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAAAGACACGGCCACGTGGA	0.557																																																	0			22											105.0	79.0	87.0					22																	37328934		2203	4300	6503	35658880	SO:0001819	synonymous_variant	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1140G>A	22.37:g.37328934G>A			35658880	Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	CCDS13936.1																																																																																				0.557	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
TMPRSS6	164656	hgsc.bcm.edu	37	22	37485808	37485808	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:37485808T>C	ENST00000346753.3	-	7	789	c.673A>G	c.(673-675)Agc>Ggc	p.S225G	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S216G|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.S225G|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.S216G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S216G	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	225	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCCACGTAGCTGTAGCGGTAA	0.667																																																	0			22											16.0	18.0	17.0					22																	37485808		2201	4297	6498	35815754	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.673A>G	22.37:g.37485808T>C	ENSP00000334962:p.Ser225Gly		35815754	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874693	0.33069	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	D;D;D;D;T	0.92099	-2.97;-2.97;-2.97;-2.97;-0.96	4.28	4.28	0.50868	CUB (1);	0.391895	0.28841	N	0.013973	D	0.87022	0.6074	L	0.34521	1.04	0.41203	D	0.986387	P;B;B	0.52316	0.952;0.4;0.278	B;B;B	0.40677	0.337;0.173;0.084	D	0.87780	0.2611	10	0.49607	T	0.09	.	13.6973	0.62587	0.0:0.0:0.0:1.0	.	225;216;225	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	G	216;225;216;216;225	ENSP00000371211:S216G;ENSP00000334962:S225G;ENSP00000385453:S216G;ENSP00000384964:S216G;ENSP00000397691:S225G	ENSP00000334962:S225G	S	-	1	0	TMPRSS6	35815754	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.040000	0.41203	1.691000	0.51100	0.374000	0.22700	AGC		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
CYTH4	27128	hgsc.bcm.edu	37	22	37678616	37678616	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:37678616C>T	ENST00000248901.6	+	1	193	c.6C>T	c.(4-6)gaC>gaT	p.D2D	CYTH4_ENST00000405206.3_Silent_p.D2D|CYTH4_ENST00000402997.1_Silent_p.D2D|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	2					positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCGGAATGGACctgtgccacc	0.607																																																	0			22											73.0	61.0	65.0					22																	37678616		2203	4300	6503	36008562	SO:0001819	synonymous_variant	27128			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.6C>T	22.37:g.37678616C>T			36008562	Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	CCDS13946.1																																																																																				0.607	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1		
APOBEC3G	60489	hgsc.bcm.edu	37	22	39479830	39479830	+	Missense_Mutation	SNP	C	C	T	rs552054727		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:39479830C>T	ENST00000407997.3	+	5	1033	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R226C|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	226	Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGAGGTGGAGCGCATGCACAA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		16945	0.001		0.0	False		,,,				2504	0.0																0			22											120.0	98.0	106.0					22																	39479830		2203	4300	6503	37809776	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.676C>T	22.37:g.39479830C>T	ENSP00000385057:p.Arg226Cys		37809776	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	4.741	0.137852	0.09032	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	D;D	0.85088	-1.94;-1.94	1.7	-0.804	0.10882	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.82181	0.4981	M	0.77486	2.375	0.19300	N	0.999975	B	0.26195	0.144	B	0.23419	0.046	T	0.70766	-0.4783	9	0.46703	T	0.11	.	7.232	0.26049	0.4644:0.5355:0.0:0.0	.	226	Q9HC16	ABC3G_HUMAN	C	226	ENSP00000413376:R226C;ENSP00000385057:R226C	ENSP00000385057:R226C	R	+	1	0	APOBEC3G	37809776	0.536000	0.26378	0.009000	0.14445	0.001000	0.01503	1.117000	0.31234	-0.138000	0.11434	-0.282000	0.10007	CGC		0.552	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822	
EP300	2033	hgsc.bcm.edu	37	22	41548251	41548251	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:41548251A>G	ENST00000263253.7	+	16	4258	c.3039A>G	c.(3037-3039)gaA>gaG	p.E1013E		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1013			E -> G (in a breast cancer sample). {ECO:0000269|PubMed:10700188}.		apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCGAAACAGAAGAGAGAAGCA	0.378			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22											41.0	43.0	42.0					22																	41548251		2203	4300	6503	39878197	SO:0001819	synonymous_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3039A>G	22.37:g.41548251A>G			39878197	B1AKC2	Silent	SNP	ENST00000263253.7	37	CCDS14010.1																																																																																				0.378	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
CYB5R3	1727	hgsc.bcm.edu	37	22	43032804	43032804	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:43032804T>C	ENST00000352397.5	-	2	322	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	CYB5R3_ENST00000361740.4_Missense_Mutation_p.M57V|CYB5R3_ENST00000407332.1_Start_Codon_SNP_p.M1V|CYB5R3_ENST00000396303.3_Start_Codon_SNP_p.M1V|CYB5R3_ENST00000407623.3_Start_Codon_SNP_p.M1V|CYB5R3_ENST00000402438.1_Start_Codon_SNP_p.M1V	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	24					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	AACAGCTTCATGAGCAGACTG	0.632																																																	0			22											77.0	67.0	70.0					22																	43032804		2203	4300	6503	41362748	SO:0001583	missense	1727			M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.70A>G	22.37:g.43032804T>C	ENSP00000338461:p.Met24Val		41362748	B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	T	9.031	0.987393	0.18889	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;T	0.86230	-2.09;-2.06;-2.05;-2.06;-2.06;-2.06;-1.4	4.82	4.82	0.62117	.	0.338170	0.32802	N	0.005625	T	0.78597	0.4308	L	0.36672	1.1	0.80722	D	1	B;B	0.18863	0.031;0.0	B;B	0.13407	0.009;0.001	T	0.71155	-0.4675	10	0.17369	T	0.5	-36.5269	8.9742	0.35926	0.0:0.0:0.1871:0.8129	.	57;24	B7Z7L3;P00387	.;NB5R3_HUMAN	V	57;1;24;1;1;1;1	ENSP00000354468:M57V;ENSP00000379597:M1V;ENSP00000338461:M24V;ENSP00000384834:M1V;ENSP00000384457:M1V;ENSP00000385679:M1V;ENSP00000403439:M1V	ENSP00000338461:M24V	M	-	1	0	CYB5R3	41362748	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	1.514000	0.35834	1.933000	0.56026	0.260000	0.18958	ATG		0.632	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1		
PNPLA5	150379	hgsc.bcm.edu	37	22	44287046	44287046	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:44287046C>T	ENST00000597664.1	-	2	451	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000216177.4_Missense_Mutation_p.A108T|PNPLA5_ENST00000593866.1_Intron			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	108	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGGACGTGGGCGTCGGGGGGC	0.657																																																	0			22											31.0	29.0	30.0					22																	44287046		2202	4298	6500	42618379	SO:0001583	missense	150379			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.322G>A	22.37:g.44287046C>T	ENSP00000471069:p.Ala108Thr		42618379	B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37		.	.	.	.	.	.	.	.	.	.	C	15.67	2.901460	0.52227	.	.	ENSG00000100341	ENST00000216177;ENST00000438734	T;T	0.77098	-1.07;-0.87	4.92	-6.68	0.01778	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.831610	0.03000	N	0.148040	T	0.69088	0.3072	M	0.64404	1.975	0.19575	N	0.999964	P	0.39404	0.672	B	0.30943	0.122	T	0.64183	-0.6467	10	0.44086	T	0.13	-0.0787	9.7403	0.40413	0.2293:0.6002:0.0:0.1706	.	108	Q7Z6Z6	PLPL5_HUMAN	T	108	ENSP00000216177:A108T;ENSP00000405732:A108T	ENSP00000216177:A108T	A	-	1	0	PNPLA5	42618379	0.006000	0.16342	0.000000	0.03702	0.013000	0.08279	-0.083000	0.11286	-1.449000	0.01938	-0.367000	0.07326	GCC		0.657	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814	
MOV10L1	54456	hgsc.bcm.edu	37	22	50546632	50546632	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:50546632C>T	ENST00000262794.5	+	4	593	c.510C>T	c.(508-510)agC>agT	p.S170S	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.S170S|MOV10L1_ENST00000540615.1_Silent_p.S150S|MOV10L1_ENST00000545383.1_Silent_p.S170S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	170					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CGTGGAGCAGCGAAGCCACCT	0.597																																																	0			22											59.0	51.0	54.0					22																	50546632		2203	4300	6503	48888759	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.510C>T	22.37:g.50546632C>T			48888759	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	CCDS14084.1																																																																																				0.597	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
ARSA	410	hgsc.bcm.edu	37	22	51064600	51064600	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:51064600G>A	ENST00000547307.1	-	5	1360	c.955C>T	c.(955-957)Cca>Tca	p.P319S	ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000395621.3_Missense_Mutation_p.P321S|ARSA_ENST00000356098.5_Missense_Mutation_p.P321S|ARSA_ENST00000395619.3_Missense_Mutation_p.P321S|ARSA_ENST00000453344.2_Missense_Mutation_p.P235S|ARSA_ENST00000216124.5_Missense_Mutation_p.P321S|ARSA_ENST00000547805.1_Missense_Mutation_p.P319S			P15289	ARSA_HUMAN	arylsulfatase A	319					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	ATATGACCTGGCCAGAAGGCC	0.642																																																	0			22											37.0	40.0	39.0					22																	51064600		2202	4298	6500	49411466	SO:0001583	missense	410			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.955C>T	22.37:g.51064600G>A	ENSP00000448440:p.Pro319Ser		49411466	B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.990322	0.74589	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63	5.4	5.4	0.78164	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.264541	0.44097	D	0.000495	D	0.97480	0.9175	M	0.86028	2.79	0.58432	D	0.999998	P	0.45986	0.87	P	0.45071	0.468	D	0.97622	1.0136	10	0.72032	D	0.01	.	12.4102	0.55464	0.0:0.1692:0.8308:0.0	.	319	P15289	ARSA_HUMAN	S	321;321;319;319;321;235;321	ENSP00000348406:P321S;ENSP00000216124:P321S;ENSP00000448440:P319S;ENSP00000448932:P319S;ENSP00000378983:P321S;ENSP00000412542:P235S;ENSP00000378981:P321S	ENSP00000216124:P321S	P	-	1	0	ARSA	49411466	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.495000	0.81514	2.538000	0.85594	0.609000	0.83330	CCA		0.642	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487	
MMP14	4323	hgsc.bcm.edu	37	14	23315106	23315106	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:23315106C>T	ENST00000311852.6	+	10	1868	c.1607C>T	c.(1606-1608)gCg>gTg	p.A536V	MMP14_ENST00000548162.1_Intron	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	536					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	GGCGGCGGGGCGGTGAGCGCG	0.687																																																	0			14											36.0	40.0	39.0					14																	23315106		2203	4300	6503	22384946	SO:0001583	missense	4323				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1607C>T	14.37:g.23315106C>T	ENSP00000308208:p.Ala536Val		22384946	A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467360	0.26335	.	.	ENSG00000157227	ENST00000311852	T	0.32023	1.47	4.38	3.49	0.39957	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.409080	0.25546	N	0.029931	T	0.19846	0.0477	L	0.29908	0.895	0.21719	N	0.999576	B	0.15719	0.014	B	0.15052	0.012	T	0.14727	-1.0462	10	0.31617	T	0.26	.	7.4743	0.27368	0.0:0.7389:0.1678:0.0933	.	536	P50281	MMP14_HUMAN	V	536	ENSP00000308208:A536V	ENSP00000308208:A536V	A	+	2	0	MMP14	22384946	0.002000	0.14202	0.711000	0.30485	0.452000	0.32318	0.253000	0.18296	0.971000	0.38288	0.460000	0.39030	GCG		0.687	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995	
ACIN1	22985	hgsc.bcm.edu	37	14	23532747	23532747	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:23532747C>A	ENST00000262710.1	-	13	3136	c.2809G>T	c.(2809-2811)Gaa>Taa	p.E937*	ACIN1_ENST00000397341.3_Nonsense_Mutation_p.E179*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.E924*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.E210*|ACIN1_ENST00000357481.2_Nonsense_Mutation_p.E179*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.E178*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.E879*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.E897*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	937					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCTTCCTCTTCTTCCCTCTGC	0.507																																																	0			14											95.0	85.0	88.0					14																	23532747		2203	4300	6503	22602587	SO:0001587	stop_gained	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2809G>T	14.37:g.23532747C>A	ENSP00000262710:p.Glu937*		22602587	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Nonsense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204631	0.95033	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	.	.	.	5.16	5.16	0.70880	.	0.000000	0.41938	D	0.000788	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-11.8879	17.5916	0.87998	0.0:1.0:0.0:0.0	.	.	.	.	X	178;210;179;937;897;179;924;167	.	ENSP00000262710:E937X	E	-	1	0	ACIN1	22602587	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.148000	0.58085	2.683000	0.91414	0.655000	0.94253	GAA		0.507	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
SLC22A17	51310	hgsc.bcm.edu	37	14	23816811	23816811	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:23816811G>A	ENST00000206544.8	-	7	1410	c.1074C>T	c.(1072-1074)acC>acT	p.T358T	SLC22A17_ENST00000397260.3_Silent_p.T247T|SLC22A17_ENST00000354772.3_Silent_p.T358T|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.T358T	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	358					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATCGGTCCACGGTGACCCCCA	0.637																																																	0			14											49.0	56.0	54.0					14																	23816811		2203	4300	6503	22886651	SO:0001819	synonymous_variant	51310			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.1074C>T	14.37:g.23816811G>A			22886651	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	37	CCDS9593.1																																																																																				0.637	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	
MYH6	4624	hgsc.bcm.edu	37	14	23869992	23869992	+	Missense_Mutation	SNP	C	C	T	rs556536964	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:23869992C>T	ENST00000356287.3	-	12	1365	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	MYH6_ENST00000405093.3_Missense_Mutation_p.A446T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	446	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.A446T(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCAGGGTGGCGTTGATGCGC	0.587													C|||	3	0.000599042	0.0	0.0	5008	,	,		21542	0.003		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	urinary_tract(1)	14											139.0	109.0	119.0					14																	23869992		2203	4300	6503	22939832	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1336G>A	14.37:g.23869992C>T	ENSP00000348634:p.Ala446Thr		22939832	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	13.77	2.335706	0.41398	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87103	-2.21;-2.21	4.03	2.1	0.27182	Myosin head, motor domain (2);	.	.	.	.	T	0.72977	0.3528	N	0.16201	0.385	0.35513	D	0.800807	B;B	0.09022	0.002;0.002	B;B	0.12837	0.008;0.008	T	0.65651	-0.6116	9	0.52906	T	0.07	.	3.7577	0.08592	0.2927:0.4802:0.1423:0.0847	.	446;446	D9YZU2;P13533	.;MYH6_HUMAN	T	446	ENSP00000386041:A446T;ENSP00000348634:A446T	ENSP00000348634:A446T	A	-	1	0	MYH6	22939832	0.687000	0.27671	0.929000	0.37066	0.947000	0.59692	0.045000	0.14013	0.267000	0.21916	-0.301000	0.09380	GCC		0.587	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH6	4624	hgsc.bcm.edu	37	14	23876383	23876383	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:23876383C>T	ENST00000356287.3	-	2	79	c.50G>A	c.(49-51)cGc>cAc	p.R17H	MYH6_ENST00000405093.3_Missense_Mutation_p.R17H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	17					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCTGACTTGCGGAGGTACTG	0.582																																																	0			14											114.0	117.0	116.0					14																	23876383		2203	4300	6503	22946223	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.50G>A	14.37:g.23876383C>T	ENSP00000348634:p.Arg17His		22946223	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	28.0	4.881508	0.91740	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.86562	-2.14;-2.14	3.53	3.53	0.40419	.	.	.	.	.	D	0.93861	0.8036	M	0.91459	3.21	0.53005	D	0.99996	D;D	0.69078	0.997;0.997	P;P	0.62740	0.906;0.906	D	0.95351	0.8447	9	0.72032	D	0.01	.	15.2325	0.73401	0.0:1.0:0.0:0.0	.	17;17	D9YZU2;P13533	.;MYH6_HUMAN	H	17	ENSP00000386041:R17H;ENSP00000348634:R17H	ENSP00000348634:R17H	R	-	2	0	MYH6	22946223	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.482000	0.81143	1.974000	0.57490	0.455000	0.32223	CGC		0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
NGDN	25983	hgsc.bcm.edu	37	14	23945248	23945248	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:23945248A>T	ENST00000408901.3	+	7	459	c.431A>T	c.(430-432)gAg>gTg	p.E144V	NGDN_ENST00000397154.3_Missense_Mutation_p.E144V|NGDN_ENST00000556580.1_5'Flank	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	144	Necessary for interaction with EIF4E. {ECO:0000250}.				regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TTGAGCTCTGAGGATGAGGAG	0.453																																																	0			14											90.0	90.0	90.0					14																	23945248		2203	4300	6503	23015088	SO:0001583	missense	25983			AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.431A>T	14.37:g.23945248A>T	ENSP00000386134:p.Glu144Val		23015088	A8K760|Q9Y400	Missense_Mutation	SNP	ENST00000408901.3	37	CCDS41926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.26|11.26	1.584858|1.584858	0.28268|0.28268	.|.	.|.	ENSG00000129460|ENSG00000129460	ENST00000408901;ENST00000397154;ENST00000555128|ENST00000556483	T;T|.	0.36340|.	1.26;1.26|.	5.89|5.89	4.74|4.74	0.60224|0.60224	.|.	0.342497|.	0.33180|.	N|.	0.005187|.	T|.	0.57388|.	0.2050|.	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	P;P|.	0.49090|.	0.919;0.868|.	B;B|.	0.43575|.	0.424;0.243|.	T|.	0.52786|.	-0.8529|.	10|.	0.30078|.	T|.	0.28|.	-15.0543|-15.0543	11.6626|11.6626	0.51356|0.51356	0.7197:0.2803:0.0:0.0|0.7197:0.2803:0.0:0.0	.|.	144;144|.	Q8NEJ9-2;Q8NEJ9|.	.;NGDN_HUMAN|.	V|C	144;144;119|91	ENSP00000386134:E144V;ENSP00000380340:E144V|.	ENSP00000380340:E144V|.	E|X	+|+	2|3	0|0	NGDN|NGDN	23015088|23015088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.699000|0.699000	0.40488|0.40488	2.714000|2.714000	0.47202|0.47202	1.039000|1.039000	0.40074|0.40074	0.460000|0.460000	0.39030|0.39030	GAG|TGA		0.453	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635	
AP1G2	8906	hgsc.bcm.edu	37	14	24029037	24029037	+	Missense_Mutation	SNP	C	C	T	rs74849041	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:24029037C>T	ENST00000308724.5	-	21	3034	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R760H|THTPA_ENST00000288014.6_3'UTR|RP11-66N24.4_ENST00000555446.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	760	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.R760H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GTAGGTGAGGCGCAGCTTTAG	0.567											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	56	0.0111821	0.0008	0.0	5008	,	,		18127	0.0407		0.0129	False		,,,				2504	0.001																1	Substitution - Missense(1)	stomach(1)	14						C	HIS/ARG	0,4406		0,0,2203	54.0	45.0	48.0		2279	5.0	1.0	14	dbSNP_131	48	7,8593	5.7+/-21.5	0,7,4293	yes	missense	AP1G2	NM_003917.2	29	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	760/786	24029037	7,12999	2203	4300	6503	23098877	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.2279G>A	14.37:g.24029037C>T	ENSP00000312442:p.Arg760His	768	23098877	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	46	0.021062271062271064	0	0.0	0	0.0	33	0.057692307692307696	13	0.017150395778364115	C	24.0	4.483747	0.84854	0.0	8.14E-4	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.51071	0.72;0.72	5.93	5.04	0.67666	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	M	0.85777	2.775	0.43503	D	0.995759	D;D	0.76494	0.999;0.999	D;D	0.70716	0.945;0.97	T	0.60515	-0.7248	10	0.87932	D	0	-16.3284	13.1837	0.59670	0.0:0.8402:0.1598:0.0	.	760;615	O75843;Q86V28	AP1G2_HUMAN;.	H	760;760;529;615	ENSP00000312442:R760H;ENSP00000380309:R760H	ENSP00000312442:R760H	R	-	2	0	AP1G2	23098877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.613000	0.36900	1.506000	0.48736	0.655000	0.94253	CGC		0.567	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917	
SPTSSA	171546	hgsc.bcm.edu	37	14	34904436	34904436	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:34904436T>C	ENST00000298130.4	-	2	335	c.187A>G	c.(187-189)Ata>Gta	p.I63V		NM_138288.3	NP_612145.2	Q969W0	SPTSA_HUMAN	serine palmitoyltransferase, small subunit A	63					sphingolipid biosynthetic process (GO:0030148)	integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)											TAGTGCAATATCGCCATGATG	0.463																																																	0			14											166.0	132.0	143.0					14																	34904436		2203	4300	6503	33974187	SO:0001583	missense	171546			AK001993	CCDS9647.2	14q13.1	2011-07-26	2011-07-26	2011-07-26	ENSG00000165389	ENSG00000165389			20361	protein-coding gene	gene with protein product	"""small subunit of serine palmitoyltransferase A"""	613540	"""chromosome 14 open reading frame 147"""	C14orf147		19416851	Standard	NM_138288		Approved	ssSPTa	uc001wsc.3	Q969W0	OTTHUMG00000140212	ENST00000298130.4:c.187A>G	14.37:g.34904436T>C	ENSP00000298130:p.Ile63Val		33974187	B2RD54|D3DS93|Q8WTZ7	Missense_Mutation	SNP	ENST00000298130.4	37	CCDS9647.2	.	.	.	.	.	.	.	.	.	.	.	15.14	2.745113	0.49151	.	.	ENSG00000165389	ENST00000298130	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	.	.	.	0.58432	D	0.999998	P	0.47604	0.898	D	0.68192	0.956	T	0.68542	-0.5381	8	0.15952	T	0.53	-5.6424	16.5317	0.84362	0.0:0.0:0.0:1.0	.	63	Q969W0	SPTSA_HUMAN	V	63	.	ENSP00000298130:I63V	I	-	1	0	SPTSSA	33974187	1.000000	0.71417	0.107000	0.21349	0.992000	0.81027	7.509000	0.81698	2.367000	0.80283	0.528000	0.53228	ATA		0.463	SPTSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276640.2	NM_138288	
MIPOL1	145282	hgsc.bcm.edu	37	14	37777573	37777573	+	Missense_Mutation	SNP	A	A	T	rs371476003		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:37777573A>T	ENST00000327441.7	+	10	1143	c.677A>T	c.(676-678)aAc>aTc	p.N226I	MIPOL1_ENST00000536774.1_Missense_Mutation_p.N45I|MIPOL1_ENST00000539062.2_Missense_Mutation_p.N195I|MIPOL1_ENST00000537471.1_Missense_Mutation_p.N226I|MIPOL1_ENST00000396294.2_Missense_Mutation_p.N226I|MIPOL1_ENST00000545536.1_Missense_Mutation_p.N195I|MIPOL1_ENST00000556451.1_Missense_Mutation_p.N195I	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	226						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GAATTACTGAACAGAATAAAC	0.303																																																	0			14											105.0	111.0	109.0					14																	37777573		2203	4299	6502	36847324	SO:0001583	missense	145282			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.677A>T	14.37:g.37777573A>T	ENSP00000333539:p.Asn226Ile		36847324	D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.737600	0.49045	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.49432	0.79;0.79;0.78;0.79;0.79;0.78	5.76	5.76	0.90799	.	0.337880	0.34291	N	0.004092	T	0.62109	0.2401	M	0.71581	2.175	0.43617	D	0.995996	D;D	0.58970	0.984;0.984	P;P	0.59703	0.851;0.862	T	0.62742	-0.6790	10	0.40728	T	0.16	-9.2844	11.9888	0.53163	0.8556:0.1444:0.0:0.0	.	226;195	Q8TD10;Q49AL5	MIPO1_HUMAN;.	I	226;45;195;195;226;226;195	ENSP00000333539:N226I;ENSP00000438319:N195I;ENSP00000450479:N195I;ENSP00000379589:N226I;ENSP00000444254:N226I;ENSP00000442529:N195I	ENSP00000333539:N226I	N	+	2	0	MIPOL1	36847324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.029000	0.57253	2.197000	0.70478	0.482000	0.46254	AAC		0.303	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731	
SSTR1	6751	hgsc.bcm.edu	37	14	38678867	38678867	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:38678867G>A	ENST00000267377.2	+	3	890	c.273G>A	c.(271-273)acG>acA	p.T91T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	91					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	AGATGAAGACGGCCACCAACA	0.547																																																	0			14											184.0	167.0	173.0					14																	38678867		2203	4300	6503	37748618	SO:0001819	synonymous_variant	6751				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.273G>A	14.37:g.38678867G>A			37748618		Silent	SNP	ENST00000267377.2	37	CCDS9666.1																																																																																				0.547	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2		
SIX4	51804	hgsc.bcm.edu	37	14	61186633	61186633	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:61186633T>C	ENST00000216513.4	-	2	1453	c.1394A>G	c.(1393-1395)gAt>gGt	p.D465G		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	465					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGACCCTCCATCTTGGGAAGC	0.507																																																	0			14											166.0	170.0	169.0					14																	61186633		2203	4300	6503	60256386	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1394A>G	14.37:g.61186633T>C	ENSP00000216513:p.Asp465Gly		60256386	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529256	0.44969	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.91740	-2.9;0.65	5.72	5.72	0.89469	.	0.225560	0.45361	D	0.000362	D	0.88321	0.6405	L	0.29908	0.895	0.50813	D	0.999896	B;P	0.36282	0.449;0.546	B;B	0.37239	0.244;0.133	D	0.89104	0.3491	10	0.72032	D	0.01	.	16.0205	0.80486	0.0:0.0:0.0:1.0	.	457;465	G3V2N2;Q9UIU6	.;SIX4_HUMAN	G	465;138;457	ENSP00000216513:D465G;ENSP00000451537:D138G	ENSP00000216513:D465G	D	-	2	0	SIX4	60256386	1.000000	0.71417	0.918000	0.36340	0.949000	0.60115	5.513000	0.67037	2.194000	0.70268	0.533000	0.62120	GAT		0.507	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
SLC38A6	145389	hgsc.bcm.edu	37	14	61517247	61517247	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:61517247T>A	ENST00000267488.4	+	13	1059	c.943T>A	c.(943-945)Tta>Ata	p.L315I	SLC38A6_ENST00000354886.2_Missense_Mutation_p.L315I|SLC38A6_ENST00000456840.2_Missense_Mutation_p.L292I	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	315					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GGAGTCAGAATTACTAAAAGG	0.308																																																	0			14											112.0	106.0	108.0					14																	61517247		2202	4298	6500	60587000	SO:0001583	missense	145389			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.943T>A	14.37:g.61517247T>A	ENSP00000267488:p.Leu315Ile		60587000	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999019	0.54147	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000529212	T;T;T;T;T	0.01981	4.52;4.52;4.52;4.52;4.52	5.92	1.81	0.25067	.	0.065191	0.64402	D	0.000006	T	0.03178	0.0093	L	0.48935	1.535	0.43994	D	0.996695	P;P;B	0.45283	0.855;0.825;0.27	P;B;B	0.46208	0.507;0.373;0.198	T	0.54807	-0.8238	10	0.56958	D	0.05	-2.609	5.42	0.16396	0.2273:0.1736:0.0:0.5992	.	292;315;315	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	I	315;315;310;292;88	ENSP00000346959:L315I;ENSP00000267488:L315I;ENSP00000395851:L310I;ENSP00000413863:L292I;ENSP00000437190:L88I	ENSP00000267488:L315I	L	+	1	2	SLC38A6	60587000	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.133000	0.31430	0.475000	0.27415	0.528000	0.53228	TTA		0.308	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1		
SYNE2	23224	hgsc.bcm.edu	37	14	64465637	64465637	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:64465637A>T	ENST00000344113.4	+	27	3571	c.3359A>T	c.(3358-3360)gAt>gTt	p.D1120V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.D1120V|SYNE2_ENST00000358025.3_Missense_Mutation_p.D1120V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1120					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCCAGGTATGATACATACAGA	0.398																																																	0			14											119.0	109.0	112.0					14																	64465637		1863	4129	5992	63535390	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3359A>T	14.37:g.64465637A>T	ENSP00000341781:p.Asp1120Val		63535390	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	6.647	0.487781	0.12641	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.60424	0.55;0.55;0.19	5.32	2.86	0.33363	.	0.488400	0.18497	N	0.139471	T	0.49779	0.1577	L	0.50333	1.59	0.80722	D	1	B;B	0.14438	0.006;0.01	B;B	0.19391	0.011;0.025	T	0.40961	-0.9535	10	0.48119	T	0.1	.	9.2366	0.37470	0.6876:0.0:0.0:0.3124	.	1120;1120	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	1120	ENSP00000350719:D1120V;ENSP00000341781:D1120V;ENSP00000452570:D1120V	ENSP00000261678:D1120V	D	+	2	0	SYNE2	63535390	0.948000	0.32251	0.528000	0.27938	0.353000	0.29299	2.065000	0.41442	0.374000	0.24650	0.533000	0.62120	GAT		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SPTB	6710	hgsc.bcm.edu	37	14	65259806	65259806	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:65259806C>T	ENST00000389721.5	-	13	2607	c.2575G>A	c.(2575-2577)Gcc>Acc	p.A859T	SPTB_ENST00000556626.1_Missense_Mutation_p.A859T|SPTB_ENST00000542895.1_Missense_Mutation_p.A859T|SPTB_ENST00000389720.3_Missense_Mutation_p.A859T|SPTB_ENST00000389722.3_Missense_Mutation_p.A859T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	859					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGCTCACAGGCGTCTGTCTCC	0.627																																																	0			14											63.0	51.0	55.0					14																	65259806		2203	4300	6503	64329559	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2575G>A	14.37:g.65259806C>T	ENSP00000374371:p.Ala859Thr		64329559	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878710	0.72294	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	M	0.69185	2.1	0.80722	D	1	P;D	0.64830	0.938;0.994	P;P	0.58820	0.745;0.846	T	0.65315	-0.6198	10	0.49607	T	0.09	.	17.5745	0.87944	0.0:1.0:0.0:0.0	.	859;863	P11277;Q59FP5	SPTB1_HUMAN;.	T	863;859;859;859;859;859	ENSP00000374372:A859T;ENSP00000451752:A859T;ENSP00000374371:A859T;ENSP00000443882:A859T;ENSP00000374370:A859T	ENSP00000374370:A859T	A	-	1	0	SPTB	64329559	1.000000	0.71417	0.956000	0.39512	0.346000	0.29079	7.792000	0.85828	2.431000	0.82371	0.555000	0.69702	GCC		0.627	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
ZFYVE26	23503	hgsc.bcm.edu	37	14	68274397	68274397	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:68274397G>A	ENST00000347230.4	-	5	742	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R202W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	202					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612																																																	0			14											83.0	83.0	83.0					14																	68274397		2203	4300	6503	67344150	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.604C>T	14.37:g.68274397G>A	ENSP00000251119:p.Arg202Trp		67344150	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564494	0.27915	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.31769	1.63;1.48	5.51	-0.51	0.11973	.	0.809720	0.11201	N	0.588792	T	0.32882	0.0844	L	0.44542	1.39	0.09310	N	1	D;D;D	0.69078	0.997;0.995;0.985	P;P;B	0.50708	0.533;0.648;0.232	T	0.27739	-1.0065	10	0.87932	D	0	-0.0041	9.6873	0.40107	0.0:0.156:0.3128:0.5312	.	202;202;202	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	W	202	ENSP00000251119:R202W;ENSP00000450603:R202W	ENSP00000251119:R202W	R	-	1	2	ZFYVE26	67344150	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.813000	0.27225	-0.237000	0.09739	-2.067000	0.00394	CGG		0.612	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
ACTN1	87	hgsc.bcm.edu	37	14	69349741	69349741	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:69349741G>A	ENST00000193403.6	-	15	2050	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V	ACTN1_ENST00000376839.3_Missense_Mutation_p.A491V|ACTN1_ENST00000438964.2_Missense_Mutation_p.A556V|ACTN1_ENST00000538545.2_Missense_Mutation_p.A556V|ACTN1_ENST00000394419.4_Missense_Mutation_p.A556V	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	556	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGGGAGGGTGGCCTTGAACTG	0.577																																																	0			14											147.0	121.0	130.0					14																	69349741		2203	4300	6503	68419494	SO:0001583	missense	87			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1667C>T	14.37:g.69349741G>A	ENSP00000193403:p.Ala556Val		68419494	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633926	0.87660	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	M	0.80982	2.52	0.80722	D	1	P;B;B;B;B	0.49862	0.929;0.119;0.338;0.134;0.433	P;B;B;B;B	0.54060	0.741;0.078;0.182;0.182;0.226	T	0.74303	-0.3709	10	0.72032	D	0.01	.	19.0858	0.93202	0.0:0.0:1.0:0.0	.	187;556;556;556;203	B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0	.;.;.;ACTN1_HUMAN;.	V	556;556;556;491;556;146	ENSP00000193403:A556V;ENSP00000377941:A556V;ENSP00000414272:A556V;ENSP00000366035:A491V;ENSP00000439828:A556V;ENSP00000444422:A146V	ENSP00000193403:A556V	A	-	2	0	ACTN1	68419494	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.660000	0.83776	2.740000	0.93945	0.650000	0.86243	GCC		0.577	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102	
EXD2	55218	hgsc.bcm.edu	37	14	69695625	69695625	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:69695625C>A	ENST00000409018.3	+	3	554	c.426C>A	c.(424-426)atC>atA	p.I142I	EXD2_ENST00000409014.1_Silent_p.I17I|EXD2_ENST00000449989.1_Silent_p.I17I|EXD2_ENST00000409242.1_Silent_p.I17I|EXD2_ENST00000312994.5_Silent_p.I142I|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Silent_p.I17I|EXD2_ENST00000409675.1_Silent_p.I17I	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	142							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.I17M(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCAAGCTAATCTGTGGAGGAA	0.483																																																	1	Substitution - Missense(1)	ovary(1)	14											109.0	103.0	105.0					14																	69695625		2203	4300	6503	68765378	SO:0001819	synonymous_variant	55218			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.426C>A	14.37:g.69695625C>A			68765378	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Silent	SNP	ENST00000409018.3	37	CCDS53902.1																																																																																				0.483	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1		
EXD2	55218	hgsc.bcm.edu	37	14	69701517	69701517	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:69701517A>G	ENST00000409018.3	+	5	946	c.818A>G	c.(817-819)gAc>gGc	p.D273G	EXD2_ENST00000409014.1_Missense_Mutation_p.D148G|EXD2_ENST00000449989.1_Missense_Mutation_p.D148G|EXD2_ENST00000409242.1_Missense_Mutation_p.D148G|EXD2_ENST00000312994.5_Missense_Mutation_p.D273G|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Missense_Mutation_p.D148G|EXD2_ENST00000409675.1_Missense_Mutation_p.D148G	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	273							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.D148A(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AAAAACGATGACCACAGTAGC	0.453																																																	1	Substitution - Missense(1)	ovary(1)	14											60.0	61.0	61.0					14																	69701517		2203	4300	6503	68771270	SO:0001583	missense	55218			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.818A>G	14.37:g.69701517A>G	ENSP00000387331:p.Asp273Gly		68771270	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	CCDS53902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.718|8.718	0.913745|0.913745	0.17907|0.17907	.|.	.|.	ENSG00000081177|ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989|ENST00000193422	T;T;T;T;T;T;T|.	0.63744|.	0.33;-0.06;-0.06;-0.06;-0.06;0.33;-0.06|.	5.42|5.42	1.32|1.32	0.21799|0.21799	.|.	0.741885|.	0.13968|.	N|.	0.350358|.	T|.	0.19366|.	0.0465|.	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|.	0.19418|.	-1.0306|.	10|.	0.42905|.	T|.	0.14|.	-7.2338|-7.2338	0.5136|0.5136	0.00599|0.00599	0.4048:0.2313:0.1876:0.1764|0.4048:0.2313:0.1876:0.1764	.|.	273;148;148|.	G5E947;B3KP95;Q9NVH0|.	.;.;EXD2_HUMAN|.	G|W	273;148;148;148;148;273;148|272	ENSP00000387331:D273G;ENSP00000386915:D148G;ENSP00000386762:D148G;ENSP00000386632:D148G;ENSP00000386839:D148G;ENSP00000313140:D273G;ENSP00000392177:D148G|.	ENSP00000313140:D273G|.	D|X	+|+	2|3	0|0	EXD2|EXD2	68771270|68771270	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.941000|0.941000	0.58515|0.58515	-0.298000|-0.298000	0.08265|0.08265	0.435000|0.435000	0.26365|0.26365	0.528000|0.528000	0.53228|0.53228	GAC|TGA		0.453	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1		
PCNX	22990	hgsc.bcm.edu	37	14	71575352	71575352	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:71575352G>A	ENST00000304743.2	+	34	6779	c.6333G>A	c.(6331-6333)tcG>tcA	p.S2111S	PCNX_ENST00000439984.3_Silent_p.S2000S|PCNX_ENST00000238570.5_Silent_p.S2039S|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2111	Ser-rich.					integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGTGCAGTCGGGCCTGGTCA	0.547																																																	0			14											49.0	48.0	48.0					14																	71575352		2203	4300	6503	70645105	SO:0001819	synonymous_variant	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6333G>A	14.37:g.71575352G>A			70645105	B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.358534	0.01245	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.94	-11.9	0.00025	.	.	.	.	.	T	0.60418	0.2267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76512	-0.2932	4	.	.	.	.	16.7633	0.85517	0.1362:0.5548:0.309:0.0	.	.	.	.	Q	1098	.	.	R	+	2	0	PCNX	70645105	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.537000	0.00939	-2.997000	0.00277	-0.312000	0.09012	CGG		0.547	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
SIPA1L1	26037	hgsc.bcm.edu	37	14	72055079	72055079	+	Silent	SNP	A	A	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:72055079A>C	ENST00000555818.1	+	2	838	c.490A>C	c.(490-492)Aga>Cga	p.R164R	SIPA1L1_ENST00000381232.3_Silent_p.R164R|SIPA1L1_ENST00000358550.2_Silent_p.R164R	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	164					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCTCCCCCAGAAAAGCTCT	0.458																																																	0			14											64.0	61.0	62.0					14																	72055079		2203	4300	6503	71124832	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.490A>C	14.37:g.72055079A>C			71124832	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.458	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
ZFYVE1	53349	hgsc.bcm.edu	37	14	73441632	73441632	+	Silent	SNP	G	G	A	rs151266277	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:73441632G>A	ENST00000556143.1	-	10	2562	c.1842C>T	c.(1840-1842)aaC>aaT	p.N614N	ZFYVE1_ENST00000318876.5_Silent_p.N600N|ZFYVE1_ENST00000394207.2_Silent_p.N199N|ZFYVE1_ENST00000555072.1_Silent_p.N199N|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000553891.1_Silent_p.N614N	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	614					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GCTTAGTGTCGTTATCTTTAA	0.552													G|||	3	0.000599042	0.0	0.0	5008	,	,		20643	0.0		0.001	False		,,,				2504	0.002																0			14						G	,	0,4406		0,0,2203	90.0	86.0	88.0		1842,597	-3.7	0.8	14	dbSNP_134	88	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous	ZFYVE1	NM_021260.2,NM_178441.1	,	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	,	614/778,199/363	73441632	7,12999	2203	4300	6503	72511385	SO:0001819	synonymous_variant	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1842C>T	14.37:g.73441632G>A			72511385	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	CCDS9811.1																																																																																				0.552	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260	
HEATR4	399671	hgsc.bcm.edu	37	14	73965799	73965799	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:73965799T>C	ENST00000553558.1	-	13	2653	c.2332A>G	c.(2332-2334)Aaa>Gaa	p.K778E	HEATR4_ENST00000334988.2_Missense_Mutation_p.K778E|HEATR4_ENST00000560393.1_Missense_Mutation_p.K731E	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	778										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCCTTGATTTTCCAGTAAGGA	0.458																																																	0			14											226.0	218.0	220.0					14																	73965799		2203	4300	6503	73035552	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2332A>G	14.37:g.73965799T>C	ENSP00000450444:p.Lys778Glu		73035552	B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115667	0.77323	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.17691	2.26	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.49916	D	0.000127	T	0.27134	0.0665	N	0.20986	0.625	0.35647	D	0.811471	D	0.89917	1.0	D	0.80764	0.994	T	0.27739	-1.0065	10	0.42905	T	0.14	-16.1796	13.8784	0.63667	0.0:0.0:0.0:1.0	.	778	Q86WZ0	HEAT4_HUMAN	E	778;731	ENSP00000450444:K778E	ENSP00000335447:K731E	K	-	1	0	HEATR4	73035552	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.641000	0.61375	2.117000	0.64856	0.533000	0.62120	AAA		0.458	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309	
COQ6	51004	hgsc.bcm.edu	37	14	74420233	74420233	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:74420233G>A	ENST00000334571.2	+	2	299	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	COQ6_ENST00000394026.4_Missense_Mutation_p.V62I|COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000238709.4_Silent_p.G31G|COQ6_ENST00000554920.1_Missense_Mutation_p.V87I	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	87					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CAGCAACAGGGTCAGCTCCAT	0.423																																																	0			14											104.0	98.0	100.0					14																	74420233		2203	4300	6503	73489986	SO:0001583	missense	51004			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.259G>A	14.37:g.74420233G>A	ENSP00000333946:p.Val87Ile		73489986	B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806443	0.90623	.	.	ENSG00000119723	ENST00000394026;ENST00000334571;ENST00000556300;ENST00000554920;ENST00000545052	T;T	0.42513	0.97;0.97	5.37	5.37	0.77165	.	0.056069	0.64402	D	0.000001	T	0.60104	0.2243	L	0.53617	1.68	0.80722	D	1	D;P;P	0.71674	0.998;0.944;0.938	D;P;P	0.63877	0.919;0.724;0.589	T	0.59434	-0.7455	10	0.59425	D	0.04	0.0419	19.369	0.94477	0.0:0.0:1.0:0.0	.	87;62;87	B7Z357;B7Z3K8;Q9Y2Z9	.;.;COQ6_HUMAN	I	62;87;87;87;87	ENSP00000377594:V62I;ENSP00000333946:V87I	ENSP00000333946:V87I	V	+	1	0	COQ6	73489986	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.271000	0.78506	2.822000	0.97130	0.650000	0.86243	GTC		0.423	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1		
RPS6KL1	83694	hgsc.bcm.edu	37	14	75386612	75386612	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:75386612C>T	ENST00000555647.1	-	4	613	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R109Q|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R109Q|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R109Q			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	109	MIT.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CTCCTCTGCCCGCCGCAGGTA	0.637																																																	0			14											45.0	43.0	44.0					14																	75386612		2203	4300	6503	74456365	SO:0001583	missense	83694			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.326G>A	14.37:g.75386612C>T	ENSP00000452027:p.Arg109Gln		74456365	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	C	36	5.929530	0.97116	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.58652	0.41;0.32;0.41;0.41	4.99	4.99	0.66335	MIT (2);	0.000000	0.85682	D	0.000000	T	0.76652	0.4017	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.76948	-0.2770	10	0.41790	T	0.15	-30.5216	16.2227	0.82267	0.0:1.0:0.0:0.0	.	109;109;109	Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2	RPKL1_HUMAN;.;.	Q	109	ENSP00000452027:R109Q;ENSP00000346644:R109Q;ENSP00000450567:R109Q;ENSP00000351086:R109Q	ENSP00000346644:R109Q	R	-	2	0	RPS6KL1	74456365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.170000	0.77587	2.600000	0.87896	0.655000	0.94253	CGG		0.637	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1		
IFT43	112752	hgsc.bcm.edu	37	14	76455320	76455320	+	Splice_Site	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:76455320G>A	ENST00000314067.6	+	2	181	c.147G>A	c.(145-147)gaG>gaA	p.E49E	IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000238628.6_Splice_Site_p.E49E|IFT43_ENST00000556742.1_Splice_Site_p.E49E	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	49					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGACTGGAGAGGTGGGTGCTA	0.433																																																	0			14											85.0	84.0	84.0					14																	76455320		2203	4300	6503	75525073	SO:0001630	splice_region_variant	112752			BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.147+1G>A	14.37:g.76455320G>A			75525073	B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Silent	SNP	ENST00000314067.6	37	CCDS41973.1																																																																																				0.433	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873	Silent
ESRRB	2103	hgsc.bcm.edu	37	14	76905887	76905887	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:76905887G>A	ENST00000509242.1	+	3	289	c.191G>A	c.(190-192)gGc>gAc	p.G64D	ESRRB_ENST00000556177.1_Missense_Mutation_p.G64D|ESRRB_ENST00000380887.2_Missense_Mutation_p.G64D|ESRRB_ENST00000261532.7_Missense_Mutation_p.G64D|ESRRB_ENST00000507951.1_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	64					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATGTTTGCAGGCGCCGGGCTG	0.677																																																	0			14											38.0	37.0	37.0					14																	76905887		2203	4299	6502	75975640	SO:0001583	missense	2103			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.191G>A	14.37:g.76905887G>A	ENSP00000422488:p.Gly64Asp		75975640	A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592598	0.28357	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.92699	-3.08;-3.09;-3.06;-3.09;-3.05	5.22	5.22	0.72569	.	0.187585	0.45606	D	0.000349	D	0.84719	0.5534	N	0.14661	0.345	0.42176	D	0.991663	B;B	0.33512	0.415;0.415	B;B	0.32677	0.15;0.15	D	0.84467	0.0597	10	0.38643	T	0.18	.	14.4255	0.67212	0.0:0.1472:0.8528:0.0	.	64;69	Q5F0P7;E7EWD9	.;.	D	69;64;64;64;64	ENSP00000424992:G69D;ENSP00000422488:G64D;ENSP00000451658:G64D;ENSP00000370270:G64D;ENSP00000261532:G64D	ENSP00000261532:G64D	G	+	2	0	ESRRB	75975640	1.000000	0.71417	0.504000	0.27639	0.235000	0.25334	4.418000	0.59828	2.437000	0.82529	0.655000	0.94253	GGC		0.677	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1		
IRF2BPL	64207	hgsc.bcm.edu	37	14	77491802	77491802	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:77491802G>A	ENST00000238647.3	-	1	3232	c.2334C>T	c.(2332-2334)ggC>ggT	p.G778G		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	778					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TCGCGATTTCGCCCTGCATGA	0.572																																																	0			14											94.0	91.0	92.0					14																	77491802		2203	4300	6503	76561555	SO:0001819	synonymous_variant	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.2334C>T	14.37:g.77491802G>A			76561555	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																				0.572	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496	
CEP128	145508	hgsc.bcm.edu	37	14	80993288	80993288	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:80993288A>T	ENST00000555265.1	-	23	3372	c.2997T>A	c.(2995-2997)taT>taA	p.Y999*	CEP128_ENST00000553717.1_5'UTR|CEP128_ENST00000281129.3_Nonsense_Mutation_p.Y999*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	999						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGTATTTGGAATATCTTCCAT	0.348																																																	0			14											80.0	81.0	81.0					14																	80993288		2203	4300	6503	80063041	SO:0001587	stop_gained	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2997T>A	14.37:g.80993288A>T	ENSP00000451162:p.Tyr999*		80063041	B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.581512|6.581512	0.97680|0.97680	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000556061|ENST00000281129;ENST00000555265	.|.	.|.	.|.	5.64|5.64	-3.34|-3.34	0.04943|0.04943	.|.	.|0.257753	.|0.32041	.|N	.|0.006665	T|.	0.17746|.	0.0426|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24083|.	-1.0170|.	4|.	.|0.02654	.|T	.|1	.|.	14.5718|14.5718	0.68216|0.68216	0.5059:0.0:0.4941:0.0|0.5059:0.0:0.4941:0.0	.|.	.|.	.|.	.|.	I|X	65|999	.|.	.|ENSP00000281129:Y999X	F|Y	-|-	1|3	0|2	CEP128|CEP128	80063041|80063041	0.145000|0.145000	0.22656|0.22656	0.005000|0.005000	0.12908|0.12908	0.005000|0.005000	0.04900|0.04900	-0.234000|-0.234000	0.09028|0.09028	-1.379000|-1.379000	0.02118|0.02118	-1.463000|-1.463000	0.01021|0.01021	TTC|TAT		0.348	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
FLRT2	23768	hgsc.bcm.edu	37	14	86089235	86089235	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:86089235C>T	ENST00000330753.4	+	2	2144	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	FLRT2_ENST00000554746.1_Silent_p.H459H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	459	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAATGGGCCACAGTTTAGTAG	0.488																																																	0			14											100.0	90.0	94.0					14																	86089235		2203	4300	6503	85158988	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1377C>T	14.37:g.86089235C>T			85158988	A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.488	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
CCDC88C	440193	hgsc.bcm.edu	37	14	91739787	91739787	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:91739787G>A	ENST00000389857.6	-	30	5355	c.5269C>T	c.(5269-5271)Ctg>Ttg	p.L1757L	CCDC88C_ENST00000331194.7_Silent_p.L281L	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1757					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCCTCAGTCAGTCTGAAGTTT	0.692																																																	0			14											19.0	22.0	21.0					14																	91739787		1949	4110	6059	90809540	SO:0001819	synonymous_variant	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5269C>T	14.37:g.91739787G>A			90809540	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	CCDS45151.1																																																																																				0.692	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353	
TRIP11	9321	hgsc.bcm.edu	37	14	92461696	92461696	+	Splice_Site	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:92461696C>A	ENST00000267622.4	-	14	5429	c.5056G>T	c.(5056-5058)Gag>Tag	p.E1686*		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1686					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TAGAGCTTACCTTGTTGGAAA	0.428			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0			14											107.0	94.0	98.0					14																	92461696		2203	4300	6503	91531449	SO:0001630	splice_region_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5056+1G>T	14.37:g.92461696C>A			91531449	B2RUT2|O14689|O15154|O95949	Nonsense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.514444|10.514444	0.99419|0.99419	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80303	.|0.4598	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77755	.|-0.2469	.|3	.|.	.|.	.|.	.|.	20.3343|20.3343	0.98733|0.98733	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1686;1422|1401	.|.	.|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91531449|91531449	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.710000|0.710000	0.40934|0.40934	7.676000|7.676000	0.84012|0.84012	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.428	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		Nonsense_Mutation
TRIP11	9321	hgsc.bcm.edu	37	14	92471812	92471812	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:92471812C>A	ENST00000267622.4	-	11	2881	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	836					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCTTAAGGCCTGAGAATATT	0.328			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0			14											63.0	66.0	65.0					14																	92471812		2203	4300	6503	91541565	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2508G>T	14.37:g.92471812C>A	ENSP00000267622:p.Gln836His		91541565	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.59|10.59	1.393094|1.393094	0.25118|0.25118	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.04194	.|3.68	5.23|5.23	1.27|1.27	0.21489|0.21489	.|.	.|1.115110	.|0.06522	.|N	.|0.739768	T|T	0.09379|0.09379	0.0231|0.0231	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	.|P;P	.|0.47409	.|0.755;0.895	.|P;P	.|0.46940	.|0.465;0.532	T|T	0.39354|0.39354	-0.9618|-0.9618	5|10	.|0.46703	.|T	.|0.11	.|.	9.1603|9.1603	0.37019|0.37019	0.0:0.5018:0.0:0.4982|0.0:0.5018:0.0:0.4982	.|.	.|572;836	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	C|H	552|836;572	.|ENSP00000267622:Q836H	.|ENSP00000267622:Q836H	G|Q	-|-	1|3	0|2	TRIP11|TRIP11	91541565|91541565	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.942000|0.942000	0.58702|0.58702	0.441000|0.441000	0.21611|0.21611	-0.038000|-0.038000	0.13624|0.13624	0.305000|0.305000	0.20034|0.20034	GGC|CAG		0.328	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
UNC79	57578	hgsc.bcm.edu	37	14	94079411	94079411	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:94079411C>A	ENST00000393151.2	+	27	4023	c.4023C>A	c.(4021-4023)ttC>ttA	p.F1341L	UNC79_ENST00000555664.1_Missense_Mutation_p.F1341L|UNC79_ENST00000256339.4_Missense_Mutation_p.F1164L|UNC79_ENST00000553484.1_Missense_Mutation_p.F1363L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1341					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTAATGCATTCATTGCAGGAA	0.423																																																	0			14											108.0	93.0	98.0					14																	94079411		2203	4300	6503	93149164	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4023C>A	14.37:g.94079411C>A	ENSP00000376858:p.Phe1341Leu		93149164	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	18.19	3.569997	0.65765	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.42131	1.04;0.98;1.02;1.04	5.56	1.53	0.23141	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	L	0.54323	1.7	0.36595	D	0.874311	D	0.58268	0.982	D	0.68943	0.961	T	0.59936	-0.7360	10	0.87932	D	0	-19.7383	10.0385	0.42144	0.0:0.4385:0.0:0.5615	.	1363	C9JQL1	.	L	1164;1341;1363;1341;1363	ENSP00000256339:F1164L;ENSP00000450868:F1341L;ENSP00000451360:F1363L;ENSP00000376858:F1341L	ENSP00000256339:F1164L	F	+	3	2	KIAA1409	93149164	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.566000	0.36396	0.111000	0.17947	-0.806000	0.03193	TTC		0.423	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
IFI27L2	83982	hgsc.bcm.edu	37	14	94594997	94594997	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:94594997G>A	ENST00000238609.3	-	3	152	c.53C>T	c.(52-54)gCt>gTt	p.A18V	IFI27L2_ENST00000556727.1_5'UTR	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	18						integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						CACGGGCACAGCCCCCACTGC	0.642																																																	0			14											32.0	26.0	28.0					14																	94594997		2203	4300	6503	93664750	SO:0001583	missense	83982			AF208232	CCDS9920.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000119632			19753	protein-coding gene	gene with protein product		611319	"""family with sequence similarity 14, member A"""	FAM14A			Standard	NM_032036		Approved	TLH29	uc001ycq.3	Q9H2X8		ENST00000238609.3:c.53C>T	14.37:g.94594997G>A	ENSP00000238609:p.Ala18Val		93664750	Q8TBD7|Q9NYL0	Missense_Mutation	SNP	ENST00000238609.3	37	CCDS9920.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448643	0.43531	.	.	ENSG00000119632	ENST00000238609	T	0.34859	1.34	4.01	3.1	0.35709	.	1.216240	0.06453	U	0.728014	T	0.49745	0.1575	M	0.78801	2.425	0.21878	N	0.999498	B	0.27013	0.166	B	0.38327	0.271	T	0.51020	-0.8758	10	0.59425	D	0.04	.	10.4407	0.44464	0.0:0.1983:0.8017:0.0	.	18	Q9H2X8	I27L2_HUMAN	V	18	ENSP00000238609:A18V	ENSP00000238609:A18V	A	-	2	0	IFI27L2	93664750	0.024000	0.19004	0.005000	0.12908	0.017000	0.09413	2.071000	0.41500	0.941000	0.37499	0.655000	0.94253	GCT		0.642	IFI27L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412935.1	NM_032036	
DICER1	23405	hgsc.bcm.edu	37	14	95582025	95582025	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:95582025G>A	ENST00000526495.1	-	13	2177	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M	DICER1_ENST00000393063.1_Missense_Mutation_p.T629M|DICER1_ENST00000541352.1_Missense_Mutation_p.T629M|DICER1_ENST00000343455.3_Missense_Mutation_p.T629M|DICER1_ENST00000527414.1_Missense_Mutation_p.T629M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	629					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCCAATGGCCGTGTTGATTGT	0.433			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0			14											285.0	234.0	251.0					14																	95582025		2203	4300	6503	94651778	SO:0001583	missense	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1886C>T	14.37:g.95582025G>A	ENSP00000437256:p.Thr629Met		94651778	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927640	0.92389	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.64	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67163	0.2864	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.68610	-0.5363	10	0.52906	T	0.07	-16.4242	18.9613	0.92678	0.0:0.0:1.0:0.0	.	629	Q9UPY3	DICER_HUMAN	M	629	ENSP00000343745:T629M;ENSP00000437256:T629M;ENSP00000376783:T629M;ENSP00000435681:T629M;ENSP00000444719:T629M	ENSP00000343745:T629M	T	-	2	0	DICER1	94651778	1.000000	0.71417	0.974000	0.42286	0.963000	0.63663	9.634000	0.98435	2.554000	0.86153	0.655000	0.94253	ACG		0.433	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
BCL11B	64919	hgsc.bcm.edu	37	14	99697797	99697797	+	Silent	SNP	G	G	A	rs372881820		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:99697797G>A	ENST00000357195.3	-	3	534	c.525C>T	c.(523-525)ggC>ggT	p.G175G	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	175					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGGGAGAGCGCCCAGGGCAC	0.711			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0			14						G	,	0,4390		0,0,2195	25.0	29.0	28.0		,525	4.5	1.0	14		28	1,8599		0,1,4299	no	intron,coding-synonymous	BCL11B	NM_022898.1,NM_138576.2	,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,	,175/895	99697797	1,12989	2195	4300	6495	98767550	SO:0001819	synonymous_variant	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.525C>T	14.37:g.99697797G>A			98767550	Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																				0.711	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
DYNC1H1	1778	hgsc.bcm.edu	37	14	102481636	102481636	+	Silent	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:102481636T>C	ENST00000360184.4	+	35	7373	c.7209T>C	c.(7207-7209)gaT>gaC	p.D2403D		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2403	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAAAGAGGATGAGGGGGAGG	0.607																																																	0			14											38.0	35.0	36.0					14																	102481636		2203	4300	6503	101551389	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7209T>C	14.37:g.102481636T>C			101551389	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.607	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
JAG2	3714	hgsc.bcm.edu	37	14	105612105	105612105	+	Missense_Mutation	SNP	C	C	T	rs372934981		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:105612105C>T	ENST00000331782.3	-	23	3318	c.2915G>A	c.(2914-2916)cGc>cAc	p.R972H	JAG2_ENST00000347004.2_Missense_Mutation_p.R934H	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	972					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|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)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAAGGTGAGGCGGGCACAGTT	0.672																																																	0			14						C	HIS/ARG,HIS/ARG	0,4366		0,0,2183	49.0	34.0	39.0		2915,2801	1.8	0.9	14		39	1,8581		0,1,4290	no	missense,missense	JAG2	NM_002226.3,NM_145159.1	29,29	0,1,6473	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	972/1239,934/1201	105612105	1,12947	2183	4291	6474	104683150	SO:0001583	missense	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2915G>A	14.37:g.105612105C>T	ENSP00000328169:p.Arg972His		104683150	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177563	0.21787	0.0	1.17E-4	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.89552	-2.53;-2.52	4.14	1.82	0.25136	.	0.221015	0.35772	N	0.002994	D	0.86957	0.6058	M	0.78049	2.395	0.26112	N	0.980662	B;B	0.25390	0.125;0.076	B;B	0.22601	0.04;0.018	T	0.80520	-0.1346	10	0.59425	D	0.04	.	9.9894	0.41860	0.0:0.7899:0.0:0.2101	.	934;972	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	H	972;934	ENSP00000328169:R972H;ENSP00000328566:R934H	ENSP00000328169:R972H	R	-	2	0	JAG2	104683150	0.001000	0.12720	0.882000	0.34594	0.081000	0.17604	0.491000	0.22419	0.713000	0.32060	0.436000	0.28706	CGC		0.672	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
TLE6	79816	hgsc.bcm.edu	37	19	2980147	2980147	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:2980147A>G	ENST00000246112.4	+	3	302	c.101A>G	c.(100-102)cAg>cGg	p.Q34R	TLE6_ENST00000452088.1_5'UTR|TLE6_ENST00000482627.1_Missense_Mutation_p.Q34R	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	34					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CTGAATTATCAGGGCATTCTA	0.552																																																	0			19											116.0	91.0	99.0					19																	2980147		692	1591	2283	2931147	SO:0001583	missense	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.101A>G	19.37:g.2980147A>G	ENSP00000246112:p.Gln34Arg		2931147	J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.789758	0.31685	.	.	ENSG00000104953	ENST00000447920;ENST00000453329;ENST00000246112	T	0.20463	2.07	1.21	1.21	0.21127	.	.	.	.	.	T	0.07548	0.0190	N	0.08118	0	0.19575	N	0.999963	P	0.40578	0.722	B	0.32211	0.142	T	0.19778	-1.0295	9	0.31617	T	0.26	.	4.6103	0.12399	1.0:0.0:0.0:0.0	.	34	C9JGZ7	.	R	34	ENSP00000246112:Q34R	ENSP00000246112:Q34R	Q	+	2	0	TLE6	2931147	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.398000	0.07259	0.801000	0.34066	0.379000	0.24179	CAG		0.552	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760	
GNA11	2767	hgsc.bcm.edu	37	19	3118949	3118949	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:3118949G>A	ENST00000078429.4	+	5	875	c.633G>A	c.(631-633)tcG>tcA	p.S211S	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	211			S -> W (in HYPOC2). {ECO:0000269|PubMed:23782177}.		action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCAGCGGTCGGAGCGGAGGA	0.612			Mis		uveal melanoma																																			Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0			19											117.0	97.0	104.0					19																	3118949		2203	4300	6503	3069949	SO:0001819	synonymous_variant	2767			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.633G>A	19.37:g.3118949G>A			3069949	O15109|Q14350|Q6IB00	Silent	SNP	ENST00000078429.4	37	CCDS12103.1																																																																																				0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067	
MFSD12	126321	hgsc.bcm.edu	37	19	3557198	3557198	+	Silent	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:3557198G>T	ENST00000355415.2	-	1	373	c.204C>A	c.(202-204)gcC>gcA	p.A68A	MFSD12_ENST00000591878.1_Intron|MFSD12_ENST00000398558.4_Silent_p.A68A|AC005786.5_ENST00000592368.1_lincRNA|MFSD12_ENST00000389395.3_Silent_p.A68A|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	68					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						ACAGCCCGTCGGCCACCTGGC	0.731																																																	0			19											11.0	14.0	13.0					19																	3557198		2006	4136	6142	3508198	SO:0001819	synonymous_variant	126321			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.204C>A	19.37:g.3557198G>T			3508198	A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	37	CCDS42465.1																																																																																				0.731	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983	
TJP3	27134	hgsc.bcm.edu	37	19	3746640	3746640	+	Missense_Mutation	SNP	G	G	A	rs370766855		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:3746640G>A	ENST00000541714.2	+	17	2630	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	TJP3_ENST00000539908.2_Missense_Mutation_p.R687H|TJP3_ENST00000587686.1_Missense_Mutation_p.R742H|TJP3_ENST00000382008.3_Missense_Mutation_p.R737H|TJP3_ENST00000589378.1_Missense_Mutation_p.R732H|TJP3_ENST00000262968.9_Missense_Mutation_p.R756H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	723	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCCGTCGCCTCTACGCA	0.672																																																	0			19						G	HIS/ARG	0,4404		0,0,2202	21.0	25.0	24.0		2267	4.8	1.0	19		24	1,8599	1.2+/-3.3	0,1,4299	no	missense	TJP3	NM_014428.1	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	756/953	3746640	1,13003	2202	4300	6502	3697640	SO:0001583	missense	27134			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2168G>A	19.37:g.3746640G>A	ENSP00000439278:p.Arg723His		3697640	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203573	0.79127	0.0	1.16E-4	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.8	4.8	0.61643	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.058905	0.64402	D	0.000003	T	0.47728	0.1461	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.997;0.966;1.0;0.995	T	0.56980	-0.7889	10	0.87932	D	0	.	16.8263	0.85933	0.0:0.0:1.0:0.0	.	742;756;737;723	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	H	723;687;737;756	ENSP00000439278:R723H;ENSP00000439991:R687H;ENSP00000371438:R737H;ENSP00000262968:R756H	ENSP00000262968:R756H	R	+	2	0	TJP3	3697640	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.379000	0.59575	2.196000	0.70406	0.491000	0.48974	CGC		0.672	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1		
EBI3	10148	hgsc.bcm.edu	37	19	4236988	4236988	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:4236988G>T	ENST00000221847.5	+	5	646	c.593G>T	c.(592-594)aGg>aTg	p.R198M		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	198	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGAGCCAGGTACTACGTC	0.597																																																	0			19											56.0	56.0	56.0					19																	4236988		2203	4300	6503	4187988	SO:0001583	missense	10148			L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.593G>T	19.37:g.4236988G>T	ENSP00000221847:p.Arg198Met		4187988	A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161997	0.57368	.	.	ENSG00000105246	ENST00000221847	T	0.57752	0.38	5.41	-4.45	0.03546	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.970566	0.08493	N	0.937731	T	0.52741	0.1753	M	0.62723	1.935	0.09310	N	1	D	0.53151	0.958	P	0.51453	0.67	T	0.54309	-0.8313	10	0.51188	T	0.08	-12.789	6.537	0.22359	0.5957:0.1448:0.2596:0.0	.	198	Q14213	IL27B_HUMAN	M	198	ENSP00000221847:R198M	ENSP00000221847:R198M	R	+	2	0	EBI3	4187988	0.001000	0.12720	0.206000	0.23566	0.009000	0.06853	-0.383000	0.07398	-0.244000	0.09639	-0.142000	0.14014	AGG		0.597	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1		
UHRF1	29128	hgsc.bcm.edu	37	19	4941840	4941840	+	RNA	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:4941840C>T	ENST00000592666.1	+	0	1546							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GTGCGGGGGCCGGCAGGACCC	0.672																																																	0			19											11.0	14.0	13.0					19																	4941840		2088	4192	6280	4892840			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4941840C>T			4892840	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	SNP	ENST00000592666.1	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.577436	0.86645	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.64	3.62	0.41486	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.052776	0.85682	D	0.000000	T	0.47600	0.1454	N	0.17278	0.47	0.32099	N	0.5908359999999999	D;D	0.71674	0.998;0.994	P;D	0.64321	0.865;0.924	T	0.62072	-0.6931	8	0.87932	D	0	-25.5644	10.3721	0.44060	0.7302:0.2698:0.0:0.0	.	337;324	Q2HIX7;Q96T88	.;UHRF1_HUMAN	W	324;324;324;337	.	ENSP00000262952:R324W	R	+	1	2	UHRF1	4892840	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.955000	0.76007	0.983000	0.38602	0.561000	0.74099	CGG		0.672	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201	
PTPRS	5802	hgsc.bcm.edu	37	19	5212404	5212404	+	Silent	SNP	C	C	T	rs146621666		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:5212404C>T	ENST00000587303.1	-	30	4812	c.4713G>A	c.(4711-4713)ctG>ctA	p.L1571L	PTPRS_ENST00000588012.1_Silent_p.L1533L|PTPRS_ENST00000592099.1_Silent_p.L1124L|PTPRS_ENST00000262963.6_Silent_p.L1551L|PTPRS_ENST00000353284.2_Silent_p.L1124L|PTPRS_ENST00000372412.4_Silent_p.L1572L|PTPRS_ENST00000357368.4_Silent_p.L1571L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Silent_p.L1533L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1571	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGACTCTCCGCAGGAAAGCCA	0.647																																																	0			19											65.0	46.0	53.0					19																	5212404		2201	4300	6501	5163404	SO:0001819	synonymous_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4713G>A	19.37:g.5212404C>T			5163404	O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	CCDS45930.1																																																																																				0.647	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
FUT6	2528	hgsc.bcm.edu	37	19	5832407	5832407	+	Missense_Mutation	SNP	C	C	T	rs112849079	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:5832407C>T	ENST00000318336.4	-	3	1366	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	FUT6_ENST00000527106.1_Missense_Mutation_p.A58T|FUT6_ENST00000524754.1_Missense_Mutation_p.A58T|FUT6_ENST00000592563.1_Missense_Mutation_p.A58T|FUT6_ENST00000286955.5_Missense_Mutation_p.A58T	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	58					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ATGGAGTGGGCGGGGGTCCCT	0.587																																																	0			19											37.0	39.0	38.0					19																	5832407		2203	4300	6503	5783407	SO:0001583	missense	2528				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.172G>A	19.37:g.5832407C>T	ENSP00000313398:p.Ala58Thr		5783407	A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	5.380	0.255349	0.10185	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165;ENST00000531085;ENST00000531199	T;T;T;T;T;T;T	0.35236	1.81;1.81;1.81;1.81;1.79;1.87;1.32	3.57	-6.97	0.01616	.	3.212480	0.01890	N	0.038509	T	0.21468	0.0517	N	0.13235	0.315	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.13407	0.009;0.009	T	0.22800	-1.0206	10	0.12430	T	0.62	.	14.3561	0.66738	0.0:0.6865:0.0:0.3135	.	58;58	C9J8A2;P51993	.;FUT6_HUMAN	T	58	ENSP00000431708:A58T;ENSP00000432954:A58T;ENSP00000313398:A58T;ENSP00000286955:A58T;ENSP00000436547:A58T;ENSP00000432161:A58T;ENSP00000436413:A58T	ENSP00000286955:A58T	A	-	1	0	FUT6	5783407	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.354000	0.02614	-1.732000	0.01359	-1.401000	0.01141	GCC		0.587	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150	
KHSRP	8570	hgsc.bcm.edu	37	19	6418029	6418029	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:6418029C>T	ENST00000398148.3	-	10	1033	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	314	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTACTCATTCCGGTCCCCAAA	0.642											OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(55;593 1006 2067 9135 22980)												0			19											74.0	82.0	79.0					19																	6418029		2162	4268	6430	6369029	SO:0001583	missense	8570			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.941G>A	19.37:g.6418029C>T	ENSP00000381216:p.Arg314Gln	633	6369029	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744146	0.89663	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.45668	0.89	5.11	5.11	0.69529	.	0.172348	0.48286	D	0.000189	T	0.66277	0.2773	M	0.77616	2.38	0.48395	D	0.999646	D	0.89917	1.0	D	0.81914	0.995	T	0.69476	-0.5135	10	0.54805	T	0.06	.	17.3392	0.87291	0.0:1.0:0.0:0.0	.	314	Q92945	FUBP2_HUMAN	Q	314;314;270	ENSP00000381216:R314Q	ENSP00000201886:R314Q	R	-	2	0	KHSRP	6369029	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.249000	0.78278	2.366000	0.80165	0.563000	0.77884	CGG		0.642	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		
MAP2K7	5609	hgsc.bcm.edu	37	19	7977252	7977252	+	Missense_Mutation	SNP	C	C	T	rs201368825		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:7977252C>T	ENST00000397979.3	+	11	1250	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000545011.1_Missense_Mutation_p.A441V|MAP2K7_ENST00000397981.3_Missense_Mutation_p.A406V|MAP2K7_ENST00000397983.3_Missense_Mutation_p.A415V	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	399	DVD domain.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GATGTCATGGCGAAGACTGAG	0.662																																																	0			19						C	VAL/ALA	0,4286		0,0,2143	54.0	65.0	61.0		1196	4.5	1.0	19		61	1,8481		0,1,4240	yes	missense	MAP2K7	NM_145185.2	64	0,1,6383	TT,TC,CC		0.0118,0.0,0.0078	benign	399/420	7977252	1,12767	2143	4241	6384	7883252	SO:0001583	missense	5609			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.1196C>T	19.37:g.7977252C>T	ENSP00000381066:p.Ala399Val		7883252	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896063	0.52121	0.0	1.18E-4	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.70631	-0.4;-0.5;-0.45;-0.5	4.54	4.54	0.55810	Protein kinase-like domain (1);	0.131606	0.49916	D	0.000134	T	0.54967	0.1891	L	0.27053	0.805	0.42985	D	0.994475	B;B	0.31640	0.333;0.185	B;B	0.19148	0.024;0.007	T	0.57201	-0.7852	10	0.35671	T	0.21	-9.7287	14.8416	0.70230	0.0:1.0:0.0:0.0	.	406;399	O14733-4;O14733	.;MP2K7_HUMAN	V	406;415;441;415;399	ENSP00000381068:A406V;ENSP00000381070:A415V;ENSP00000443946:A441V;ENSP00000381066:A399V	ENSP00000381066:A399V	A	+	2	0	MAP2K7	7883252	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	4.192000	0.58378	2.356000	0.79943	0.511000	0.50034	GCG		0.662	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		
FBN3	84467	hgsc.bcm.edu	37	19	8154511	8154511	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:8154511G>A	ENST00000600128.1	-	51	6708	c.6294C>T	c.(6292-6294)ggC>ggT	p.G2098G	FBN3_ENST00000601739.1_Silent_p.G2098G|FBN3_ENST00000270509.2_Silent_p.G2098G			Q75N90	FBN3_HUMAN	fibrillin 3	2098	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGACACAGACGCCGTTAGTGC	0.582																																																	0			19											211.0	181.0	191.0					19																	8154511		2203	4300	6503	8060511	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6294C>T	19.37:g.8154511G>A			8060511	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.582	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
MUC16	94025	hgsc.bcm.edu	37	19	9047453	9047453	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:9047453G>A	ENST00000397910.4	-	5	34381	c.34178C>T	c.(34177-34179)aCa>aTa	p.T11393I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11395	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGTTATTGTTGGAAAATC	0.453																																																	0			19											228.0	215.0	219.0					19																	9047453		1947	4151	6098	8908453	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34178C>T	19.37:g.9047453G>A	ENSP00000381008:p.Thr11393Ile		8908453	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.661	0.490406	0.12702	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.47	2.43	0.29744	.	.	.	.	.	T	0.02807	0.0084	N	0.19112	0.55	.	.	.	P	0.46912	0.886	P	0.45276	0.475	T	0.37103	-0.9720	8	0.87932	D	0	.	6.7636	0.23554	0.1285:0.0:0.8715:0.0	.	11393	B5ME49	.	I	11393	ENSP00000381008:T11393I	ENSP00000381008:T11393I	T	-	2	0	MUC16	8908453	0.007000	0.16637	0.001000	0.08648	0.009000	0.06853	1.074000	0.30703	1.037000	0.40024	0.586000	0.80456	ACA		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
PDE4A	5141	hgsc.bcm.edu	37	19	10571763	10571763	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:10571763G>A	ENST00000352831.6	+	11	1559	c.1449G>A	c.(1447-1449)caG>caA	p.Q483Q	PDE4A_ENST00000440014.2_Silent_p.Q422Q|PDE4A_ENST00000380702.2_Silent_p.Q461Q|PDE4A_ENST00000344979.3_Silent_p.Q244Q|PDE4A_ENST00000293683.5_Silent_p.Q457Q|PDE4A_ENST00000592685.1_Silent_p.Q461Q	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	483	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TCTCCAACCAGTTCCTCATCA	0.637																																																	0			19											47.0	42.0	43.0					19																	10571763		2203	4300	6503	10432763	SO:0001819	synonymous_variant	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1449G>A	19.37:g.10571763G>A			10432763	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	CCDS45961.1																																																																																				0.637	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		
GCDH	2639	hgsc.bcm.edu	37	19	13007747	13007747	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:13007747C>T	ENST00000222214.5	+	9	1087	c.876C>T	c.(874-876)aaC>aaT	p.N292N	GCDH_ENST00000591470.1_Silent_p.N292N|GCDH_ENST00000457854.1_Silent_p.N292N|GCDH_ENST00000422947.2_Silent_p.N248N			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	292	Substrate binding.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GCCTGAACAACGCCCGGTACG	0.627																																					GBM(123;875 1636 7726 16444 26754)												0			19											50.0	44.0	46.0					19																	13007747		2203	4300	6503	12868747	SO:0001819	synonymous_variant	2639			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.876C>T	19.37:g.13007747C>T			12868747	A8K2Z2|O14719	Silent	SNP	ENST00000222214.5	37	CCDS12286.1																																																																																				0.627	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1		
GTPBP3	84705	hgsc.bcm.edu	37	19	17450340	17450340	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:17450340C>T	ENST00000324894.8	+	7	974	c.906C>T	c.(904-906)agC>agT	p.S302S	GTPBP3_ENST00000361619.5_Silent_p.S324S|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Silent_p.S302S|GTPBP3_ENST00000358792.7_Silent_p.S334S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	302	TrmE-type G.				tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						TGCTGCTGAGCGACACGGCTG	0.711																																																	0			19											39.0	37.0	37.0					19																	17450340		2203	4298	6501	17311340	SO:0001819	synonymous_variant	84705			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.906C>T	19.37:g.17450340C>T			17311340	A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	CCDS32951.1																																																																																				0.711	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620	
GATAD2A	54815	hgsc.bcm.edu	37	19	19576354	19576354	+	Missense_Mutation	SNP	C	C	T	rs370240766		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:19576354C>T	ENST00000360315.3	+	2	512	c.200C>T	c.(199-201)aCg>aTg	p.T67M	GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000404158.1_Missense_Mutation_p.T67M|GATAD2A_ENST00000252577.5_Missense_Mutation_p.T67M|GATAD2A_ENST00000429563.2_5'UTR|GATAD2A_ENST00000358713.3_Missense_Mutation_p.T67M	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	67					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						ACAGAGGCCACGGCCATGGCC	0.632																																																	0			19						C	MET/THR	1,3135		0,1,1567	50.0	50.0	50.0		200	1.4	0.0	19		50	0,7164		0,0,3582	no	missense	GATAD2A	NM_017660.3	81	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	benign	67/634	19576354	1,10299	1568	3582	5150	19437354	SO:0001583	missense	54815			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.200C>T	19.37:g.19576354C>T	ENSP00000353463:p.Thr67Met		19437354	B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	C	4.194	0.034687	0.08101	3.19E-4	0.0	ENSG00000167491	ENST00000417582;ENST00000360315;ENST00000252577;ENST00000457895;ENST00000432704;ENST00000404158;ENST00000429242;ENST00000358713;ENST00000444839	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	3.78	1.35	0.21983	.	0.834308	0.10939	N	0.617438	T	0.18173	0.0436	N	0.02011	-0.69	0.21762	N	0.999556	B;B	0.13145	0.007;0.002	B;B	0.09377	0.004;0.001	T	0.21518	-1.0243	10	0.56958	D	0.05	-20.4195	9.1899	0.37193	0.6677:0.3323:0.0:0.0	.	86;67	B5MC40;Q86YP4	.;P66A_HUMAN	M	67;67;67;67;67;86;67;67;67	ENSP00000403703:T67M;ENSP00000353463:T67M;ENSP00000252577:T67M;ENSP00000404212:T67M;ENSP00000390495:T67M;ENSP00000414252:T67M;ENSP00000351552:T67M;ENSP00000407293:T67M	ENSP00000252577:T67M	T	+	2	0	GATAD2A	19437354	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.137000	0.15995	0.544000	0.28883	0.467000	0.42956	ACG		0.632	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660	
ZNF257	113835	hgsc.bcm.edu	37	19	22272034	22272034	+	Missense_Mutation	SNP	A	A	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:22272034A>C	ENST00000594947.1	+	4	1626	c.1482A>C	c.(1480-1482)aaA>aaC	p.K494N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATGTGGCAAAGCCTTTAACC	0.398																																																	0			19											43.0	47.0	45.0					19																	22272034		2116	4261	6377	22063874	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1482A>C	19.37:g.22272034A>C	ENSP00000470209:p.Lys494Asn		22063874	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847736	0.32606	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.039	0.13878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49012	0.1532	M	0.90019	3.08	0.22581	N	0.998967	P	0.44281	0.831	B	0.43508	0.422	T	0.48375	-0.9041	8	0.72032	D	0.01	.	5.1987	0.15252	0.7893:0.0:0.2107:0.0	.	494	Q9Y2Q1	ZN257_HUMAN	N	494;466	.	ENSP00000380312:K466N	K	+	3	2	ZNF257	22063874	0.000000	0.05858	0.429000	0.26710	0.101000	0.19017	-0.329000	0.07935	0.436000	0.26393	0.260000	0.18958	AAA		0.398	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
RHPN2	85415	hgsc.bcm.edu	37	19	33486948	33486948	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:33486948G>A	ENST00000254260.3	-	11	1439	c.1404C>T	c.(1402-1404)gaC>gaT	p.D468D	RHPN2_ENST00000400226.4_Silent_p.D317D	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	468					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CACTGGGGGCGTCGATCAGGT	0.627																																																	0			19											80.0	62.0	68.0					19																	33486948		2203	4300	6503	38178788	SO:0001819	synonymous_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1404C>T	19.37:g.33486948G>A			38178788	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	CCDS12427.1																																																																																				0.627	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
RHPN2	85415	hgsc.bcm.edu	37	19	33493201	33493201	+	Missense_Mutation	SNP	C	C	T	rs201601538	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:33493201C>T	ENST00000254260.3	-	9	1092	c.1057G>A	c.(1057-1059)Gcg>Acg	p.A353T	RHPN2_ENST00000400226.4_Missense_Mutation_p.A202T	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	353	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.A353T(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCAGGGCCGCGTAGTGGTGG	0.642																																																	2	Substitution - Missense(2)	central_nervous_system(2)	19											51.0	48.0	49.0					19																	33493201		2203	4300	6503	38185041	SO:0001583	missense	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1057G>A	19.37:g.33493201C>T	ENSP00000254260:p.Ala353Thr		38185041	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	6.623	0.483344	0.12581	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.17691	2.26;2.26	4.61	-0.585	0.11698	BRO1 domain (3);	1.055030	0.07227	N	0.861852	T	0.07279	0.0184	N	0.11560	0.145	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.41378	-0.9512	10	0.13853	T	0.58	0.2931	3.9219	0.09247	0.1643:0.3914:0.0:0.4443	.	353	Q8IUC4	RHPN2_HUMAN	T	353;83;202	ENSP00000254260:A353T;ENSP00000402244:A202T	ENSP00000254260:A353T	A	-	1	0	RHPN2	38185041	0.000000	0.05858	0.006000	0.13384	0.362000	0.29581	-0.172000	0.09868	0.142000	0.18901	-0.373000	0.07131	GCG		0.642	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
ZNF792	126375	hgsc.bcm.edu	37	19	35451780	35451780	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:35451780G>T	ENST00000404801.1	-	2	538	c.152C>A	c.(151-153)gCc>gAc	p.A51D	ZNF792_ENST00000605484.1_5'Flank	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	51	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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCCAGCGAGGCTATAAGTGC	0.567																																					GBM(1;7 183 21053 22581 22847)												0			19											120.0	118.0	119.0					19																	35451780		2203	4300	6503	40143620	SO:0001583	missense	126375			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.152C>A	19.37:g.35451780G>T	ENSP00000385099:p.Ala51Asp		40143620	B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	15.68	2.904153	0.52333	.	.	ENSG00000180884	ENST00000404801	T	0.01933	4.55	2.6	2.6	0.31112	Krueppel-associated box (4);	.	.	.	.	T	0.10337	0.0253	M	0.82517	2.595	0.23563	N	0.997407	D	0.89917	1.0	D	0.72982	0.979	T	0.09292	-1.0681	9	0.56958	D	0.05	.	5.4454	0.16531	0.1539:0.0:0.8461:0.0	.	51	Q3KQV3	ZN792_HUMAN	D	51	ENSP00000385099:A51D	ENSP00000385099:A51D	A	-	2	0	ZNF792	40143620	0.008000	0.16893	0.790000	0.31976	0.858000	0.48976	0.234000	0.17930	1.768000	0.52137	0.563000	0.77884	GCC		0.567	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872	
LSR	51599	hgsc.bcm.edu	37	19	35753559	35753559	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:35753559C>A	ENST00000361790.3	+	5	1045	c.886C>A	c.(886-888)Ccc>Acc	p.P296T	AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000602122.1_Missense_Mutation_p.P277T|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000354900.3_Missense_Mutation_p.P277T|LSR_ENST00000427250.1_Intron|LSR_ENST00000360798.3_Intron|LSR_ENST00000347609.4_Missense_Mutation_p.P259T	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	296	Cys-rich.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGTCAGGTGCCCCTGCTGCCC	0.632																																																	0			19											94.0	75.0	82.0					19																	35753559		2203	4300	6503	40445399	SO:0001583	missense	51599			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.886C>A	19.37:g.35753559C>A	ENSP00000354575:p.Pro296Thr		40445399	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840587	0.71488	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000347609	T;T;T	0.50548	0.74;0.74;0.74	4.74	4.74	0.60224	LISCH7 (1);	0.056734	0.64402	D	0.000001	T	0.66356	0.2781	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.81914	0.988;0.992;0.995;0.957	T	0.69465	-0.5138	10	0.66056	D	0.02	-27.4288	15.256	0.73585	0.0:1.0:0.0:0.0	.	259;277;277;296	Q86X29-2;Q86X29-3;E9PHD4;Q86X29	.;.;.;LSR_HUMAN	T	296;277;259	ENSP00000354575:P296T;ENSP00000346976:P277T;ENSP00000262627:P259T	ENSP00000262627:P259T	P	+	1	0	LSR	40445399	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	4.328000	0.59253	2.448000	0.82819	0.591000	0.81541	CCC		0.632	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	
FFAR2	2867	hgsc.bcm.edu	37	19	35940825	35940825	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:35940825C>T	ENST00000599180.2	+	2	289	c.209C>T	c.(208-210)gCg>gTg	p.A70V	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.A70V			O15552	FFAR2_HUMAN	free fatty acid receptor 2	70					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATCGAGGCTGCGTCGAACTTC	0.637																																					GBM(40;139 809 9833 23358 48736)												0			19											50.0	41.0	44.0					19																	35940825		2203	4300	6503	40632665	SO:0001583	missense	2867			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.209C>T	19.37:g.35940825C>T	ENSP00000473159:p.Ala70Val		40632665	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726572	0.30593	.	.	ENSG00000126262	ENST00000246549	T	0.37584	1.19	5.61	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.450275	0.23272	N	0.050009	T	0.31670	0.0804	L	0.58810	1.83	0.09310	N	1	P	0.49307	0.922	B	0.39904	0.313	T	0.21381	-1.0247	10	0.13470	T	0.59	-22.3343	12.8317	0.57750	0.0:0.9202:0.0:0.0798	.	70	O15552	FFAR2_HUMAN	V	70	ENSP00000246549:A70V	ENSP00000246549:A70V	A	+	2	0	FFAR2	40632665	0.000000	0.05858	0.063000	0.19743	0.002000	0.02628	0.405000	0.21015	1.512000	0.48834	0.655000	0.94253	GCG		0.637	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
NFKBID	84807	hgsc.bcm.edu	37	19	36387423	36387423	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:36387423C>T	ENST00000396901.1	-	7	849	c.276G>A	c.(274-276)gcG>gcA	p.A92A	NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000606253.1_Silent_p.A92A|NFKBID_ENST00000352614.2_Silent_p.A244A	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	92					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TGGCAGCAGCCGCCACCAGGA	0.642																																																	0			19											30.0	37.0	35.0					19																	36387423		1983	4156	6139	41079263	SO:0001819	synonymous_variant	84807			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.276G>A	19.37:g.36387423C>T			41079263	Q8NI39|Q9BRG9	Silent	SNP	ENST00000396901.1	37	CCDS42552.1																																																																																				0.642	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721	
ZNF569	148266	hgsc.bcm.edu	37	19	37903604	37903604	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:37903604A>G	ENST00000316950.6	-	6	2513	c.1956T>C	c.(1954-1956)caT>caC	p.H652H	ZNF569_ENST00000392149.2_Silent_p.H652H|ZNF569_ENST00000392150.2_Silent_p.H493H	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	652					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTTTCTCATATGAAGGGTAA	0.423																																																	0			19											121.0	123.0	122.0					19																	37903604		2203	4300	6503	42595444	SO:0001819	synonymous_variant	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1956T>C	19.37:g.37903604A>G			42595444	A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	CCDS12503.1																																																																																				0.423	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF569	148266	hgsc.bcm.edu	37	19	37916782	37916782	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:37916782T>A	ENST00000316950.6	-	5	783	c.226A>T	c.(226-228)Aga>Tga	p.R76*	ZNF569_ENST00000392149.2_Nonsense_Mutation_p.R76*|ZNF569_ENST00000591073.1_5'Flank|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000589833.1_Nonsense_Mutation_p.R100*|ZNF569_ENST00000592490.1_Intron	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	76	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)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCCAGTGTCTCCTTAATACT	0.428																																																	0			19											490.0	475.0	480.0					19																	37916782		2203	4300	6503	42608622	SO:0001587	stop_gained	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.226A>T	19.37:g.37916782T>A	ENSP00000325018:p.Arg76*		42608622	A8K1S2|Q15925|Q17RR6|Q96MQ2	Nonsense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	39	7.649913	0.98412	.	.	ENSG00000196437	ENST00000316950	.	.	.	3.39	3.39	0.38822	.	0.227351	0.22513	N	0.059078	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	8.5267	0.33309	0.0:0.0:0.0:1.0	.	.	.	.	X	76	.	ENSP00000325018:R76X	R	-	1	2	ZNF569	42608622	0.489000	0.26004	0.989000	0.46669	0.609000	0.37215	2.075000	0.41538	1.785000	0.52413	0.459000	0.35465	AGA		0.428	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF793	390927	hgsc.bcm.edu	37	19	38028091	38028091	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:38028091T>A	ENST00000587143.1	+	6	766	c.531T>A	c.(529-531)aaT>aaA	p.N177K	ZNF793_ENST00000542455.1_Missense_Mutation_p.N177K|ZNF793_ENST00000445217.1_Missense_Mutation_p.N177K|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCGTATAAATCATGGTAGAC	0.408																																					Melanoma(44;400 1431 1499 19093)												0			19											34.0	33.0	34.0					19																	38028091		1837	4098	5935	42719931	SO:0001583	missense	390927			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.531T>A	19.37:g.38028091T>A	ENSP00000468605:p.Asn177Lys		42719931	E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.311938	0.00237	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.14266	2.52;2.52	4.03	-3.08	0.05347	.	0.342514	0.21239	N	0.077846	T	0.03053	0.0090	N	0.05259	-0.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35400	-0.9790	10	0.02654	T	1	.	0.1194	0.00063	0.2904:0.204:0.1625:0.3432	.	177	E9PGN4	.	K	177;177;177;176	ENSP00000444355:N177K;ENSP00000396402:N177K	ENSP00000318811:N176K	N	+	3	2	ZNF793	42719931	0.000000	0.05858	0.009000	0.14445	0.040000	0.13550	-1.872000	0.01639	-0.201000	0.10284	-0.146000	0.13790	AAT		0.408	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659	
CATSPERG	57828	hgsc.bcm.edu	37	19	38861334	38861334	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:38861334T>C	ENST00000409235.3	+	29	3497	c.3382T>C	c.(3382-3384)Tct>Cct	p.S1128P	CATSPERG_ENST00000410018.1_Missense_Mutation_p.S1088P|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1128					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GAGCATGCCGTCTCTGAGACA	0.537																																																	0			19											154.0	138.0	143.0					19																	38861334		2203	4300	6503	43553174	SO:0001583	missense	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3382T>C	19.37:g.38861334T>C	ENSP00000386962:p.Ser1128Pro		43553174	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662100	0.47572	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.28666	1.61;1.6	3.57	3.57	0.40892	.	2.847580	0.01174	N	0.006938	T	0.44973	0.1319	N	0.24115	0.695	0.36230	D	0.85257	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.41805	-0.9488	10	0.66056	D	0.02	-0.7155	8.824	0.35043	0.0:0.0:0.0:1.0	.	1128;1088	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	P	1088;1128;1128	ENSP00000387057:S1088P;ENSP00000386962:S1128P	ENSP00000386962:S1128P	S	+	1	0	CATSPERG	43553174	0.001000	0.12720	0.023000	0.16930	0.014000	0.08584	0.525000	0.22956	1.874000	0.54306	0.397000	0.26171	TCT		0.537	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
FAM98C	147965	hgsc.bcm.edu	37	19	38897659	38897659	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:38897659G>A	ENST00000252530.5	+	7	879	c.860G>A	c.(859-861)tGt>tAt	p.C287Y	FAM98C_ENST00000343358.7_Intron|FAM98C_ENST00000588262.1_Silent_p.L153L	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	287										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACCTGTCTTGTCTCGTCCCA	0.617																																																	0			19											105.0	109.0	108.0					19																	38897659		2052	4180	6232	43589499	SO:0001583	missense	147965				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.860G>A	19.37:g.38897659G>A	ENSP00000252530:p.Cys287Tyr		43589499	A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815976	0.50527	.	.	ENSG00000130244	ENST00000252530	T	0.41065	1.01	4.9	4.9	0.64082	.	6.976200	0.00166	N	0.000004	T	0.29093	0.0723	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01528	-1.1332	10	0.23891	T	0.37	-0.6223	15.6386	0.76977	0.0:0.0:1.0:0.0	.	287	Q17RN3	FA98C_HUMAN	Y	287	ENSP00000252530:C287Y	ENSP00000252530:C287Y	C	+	2	0	FAM98C	43589499	0.142000	0.22610	0.996000	0.52242	0.959000	0.62525	1.980000	0.40618	2.274000	0.75844	0.650000	0.86243	TGT		0.617	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905	
HIPK4	147746	hgsc.bcm.edu	37	19	40886833	40886833	+	Silent	SNP	G	G	T	rs570485639		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:40886833G>T	ENST00000291823.2	-	3	1349	c.1065C>A	c.(1063-1065)gcC>gcA	p.A355A		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	355					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGTCTCGTGGGCACTGCGCA	0.657																																																	0			19											71.0	70.0	70.0					19																	40886833		2203	4300	6503	45578673	SO:0001819	synonymous_variant	147746			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1065C>A	19.37:g.40886833G>T			45578673	A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	CCDS12555.1																																																																																				0.657	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685	
ERF	2077	hgsc.bcm.edu	37	19	42754536	42754536	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:42754536G>A	ENST00000222329.4	-	2	361	c.204C>T	c.(202-204)ggC>ggT	p.G68G	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_5'UTR	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	68					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				ACTTGCGAACGCCCCACAGCC	0.647																																																	0			19											45.0	45.0	45.0					19																	42754536		2203	4300	6503	47446376	SO:0001819	synonymous_variant	2107			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.204C>T	19.37:g.42754536G>A			47446376	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	ENST00000222329.4	37	CCDS12600.1																																																																																				0.647	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494	
LYPD3	27076	hgsc.bcm.edu	37	19	43967350	43967350	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:43967350C>T	ENST00000244333.3	-	4	560	c.472G>A	c.(472-474)Gtc>Atc	p.V158I		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	158	UPAR/Ly6 2.				cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CAGCTCACGACCGGCGGCGAT	0.647																																																	0			19											80.0	72.0	75.0					19																	43967350		2203	4300	6503	48659190	SO:0001583	missense	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.472G>A	19.37:g.43967350C>T	ENSP00000244333:p.Val158Ile		48659190	Q9UJ74	Missense_Mutation	SNP	ENST00000244333.3	37	CCDS12620.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025127	0.54683	.	.	ENSG00000124466	ENST00000244333	T	0.69685	-0.42	4.9	3.79	0.43588	CD59 antigen (1);	0.236088	0.29113	N	0.013101	T	0.59998	0.2235	L	0.36672	1.1	0.29119	N	0.880352	P	0.52316	0.952	P	0.48488	0.579	T	0.55010	-0.8207	10	0.24483	T	0.36	.	11.8532	0.52423	0.0:0.8228:0.1772:0.0	.	158	O95274	LYPD3_HUMAN	I	158	ENSP00000244333:V158I	ENSP00000244333:V158I	V	-	1	0	LYPD3	48659190	0.898000	0.30612	0.998000	0.56505	0.595000	0.36748	1.341000	0.33907	2.466000	0.83321	0.456000	0.33151	GTC		0.647	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400	
IRGQ	126298	hgsc.bcm.edu	37	19	44097061	44097061	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:44097061C>T	ENST00000602269.1	-	2	1174	c.989G>A	c.(988-990)cGc>cAc	p.R330H	IRGQ_ENST00000422989.1_Missense_Mutation_p.R330H|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Missense_Mutation_p.R43H			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	330	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCCGTCTGTGCGCACGCAGAC	0.632																																																	0			19											128.0	124.0	125.0					19																	44097061		2203	4300	6503	48788901	SO:0001583	missense	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.989G>A	19.37:g.44097061C>T	ENSP00000472250:p.Arg330His		48788901	B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765253	0.69878	.	.	ENSG00000167378	ENST00000422989	T	0.58358	0.34	4.26	4.26	0.50523	.	0.353444	0.19631	N	0.109661	T	0.67515	0.2901	M	0.68952	2.095	0.29488	N	0.855838	D	0.89917	1.0	D	0.79108	0.992	T	0.63260	-0.6677	10	0.72032	D	0.01	-25.8297	10.4901	0.44746	0.0:0.8034:0.1966:0.0	.	330	Q8WZA9	IRGQ_HUMAN	H	330	ENSP00000387535:R330H	ENSP00000387535:R330H	R	-	2	0	IRGQ	48788901	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	2.964000	0.49192	2.667000	0.90743	0.655000	0.94253	CGC		0.632	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561	
PNMAL2	57469	hgsc.bcm.edu	37	19	46997834	46997834	+	Intron	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:46997834C>T	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_5'UTR|PNMAL2_ENST00000599531.1_Missense_Mutation_p.A297T			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCTCTCACAGCCAGCAGGGCC	0.567																																																	0			19											60.0	61.0	61.0					19																	46997834		2203	4300	6503	51689674	SO:0001627	intron_variant	57469			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+154G>A	19.37:g.46997834C>T			51689674	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37																																																																																					0.567	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709	
ZNF541	84215	hgsc.bcm.edu	37	19	48047437	48047437	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:48047437G>A	ENST00000391901.3	-	3	2348	c.2349C>T	c.(2347-2349)gcC>gcT	p.A783A	ZNF541_ENST00000314121.4_Silent_p.A783A|ZNF541_ENST00000448976.1_Silent_p.A783A			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	783					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						CCGGGGGCCCGGCCGATGAGA	0.597																																																	0			19											27.0	33.0	31.0					19																	48047437		692	1591	2283	52739249	SO:0001819	synonymous_variant	84215			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.2349C>T	19.37:g.48047437G>A			52739249	Q8NDK8	Silent	SNP	ENST00000391901.3	37		.	.	.	.	.	.	.	.	.	.	G	0.348	-0.946466	0.02304	.	.	ENSG00000118156	ENST00000263351	.	.	.	5.77	-8.04	0.01110	.	.	.	.	.	T	0.17195	0.0413	.	.	.	0.20638	N	0.999873	.	.	.	.	.	.	T	0.19745	-1.0296	4	.	.	.	-5.389	3.4303	0.07426	0.4859:0.1038:0.3056:0.1047	.	.	.	.	L	374	.	.	P	-	2	0	ZNF541	52739249	0.000000	0.05858	0.004000	0.12327	0.129000	0.20672	-2.622000	0.00877	-1.916000	0.01075	-0.258000	0.10820	CCG		0.597	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000280415.1	NM_032255	
LIG1	3978	hgsc.bcm.edu	37	19	48657140	48657140	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:48657140T>C	ENST00000263274.7	-	6	874	c.455A>G	c.(454-456)aAg>aGg	p.K152R	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.K122R|LIG1_ENST00000599165.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	152			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ttcctcctccttcttcctctt	0.577								Nucleotide excision repair (NER)																																									0			19											196.0	113.0	141.0					19																	48657140		2203	4300	6503	53348952	SO:0001583	missense	26018				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.455A>G	19.37:g.48657140T>C	ENSP00000263274:p.Lys152Arg		53348952	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	6.386	0.439422	0.12104	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526	T;T	0.58506	0.44;0.33	3.99	2.94	0.34122	.	0.866238	0.10215	N	0.701604	T	0.48714	0.1515	L	0.54323	1.7	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.001	T	0.28839	-1.0031	10	0.18710	T	0.47	-18.4584	7.3918	0.26913	0.0:0.0:0.2229:0.7771	.	122;152	B4DTU4;P18858	.;DNLI1_HUMAN	R	152;184;122	ENSP00000263274:K152R;ENSP00000442841:K122R	ENSP00000263274:K152R	K	-	2	0	LIG1	53348952	0.292000	0.24362	0.892000	0.35008	0.244000	0.25665	1.067000	0.30616	0.837000	0.34925	0.496000	0.49642	AAG		0.577	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
HSD17B14	51171	hgsc.bcm.edu	37	19	49334941	49334941	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:49334941G>A	ENST00000263278.4	-	5	619	c.353C>T	c.(352-354)aCg>aTg	p.T118M	HSD17B14_ENST00000599157.1_Intron	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	118					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-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;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CAAGGTGTACGTCCCCAGTAG	0.597																																																	0			19											62.0	63.0	63.0					19																	49334941		2203	4300	6503	54026753	SO:0001583	missense	51171			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.353C>T	19.37:g.49334941G>A	ENSP00000263278:p.Thr118Met		54026753	Q9UKU3	Missense_Mutation	SNP	ENST00000263278.4	37	CCDS12736.1	.	.	.	.	.	.	.	.	.	.	G	1.815	-0.473583	0.04445	.	.	ENSG00000087076	ENST00000263278	D	0.88509	-2.39	4.26	-1.07	0.09968	NAD(P)-binding domain (1);	0.896444	0.09556	N	0.786237	T	0.76162	0.3949	L	0.31207	0.915	0.09310	N	1	P	0.39352	0.669	B	0.28784	0.094	T	0.64980	-0.6279	10	0.44086	T	0.13	.	5.1252	0.14880	0.1456:0.0:0.6758:0.1786	.	118	Q9BPX1	DHB14_HUMAN	M	118	ENSP00000263278:T118M	ENSP00000263278:T118M	T	-	2	0	HSD17B14	54026753	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.451000	0.06795	-0.052000	0.13311	-0.458000	0.05436	ACG		0.597	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1	NM_016246	
RUVBL2	10856	hgsc.bcm.edu	37	19	49510281	49510281	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:49510281C>T	ENST00000595090.1	+	5	736	c.272C>T	c.(271-273)gCg>gTg	p.A91V	RUVBL2_ENST00000413176.2_Missense_Mutation_p.A46V|RUVBL2_ENST00000601968.1_Missense_Mutation_p.A46V	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	91					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CCAGGCATGGCGCAGGCCCTG	0.632																																																	0			19											28.0	32.0	31.0					19																	49510281		2046	4181	6227	54202093	SO:0001583	missense	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.272C>T	19.37:g.49510281C>T	ENSP00000473172:p.Ala91Val		54202093	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789553	0.90367	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.59224	0.28;0.53	5.46	4.41	0.53225	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.107480	0.64402	D	0.000006	D	0.83211	0.5205	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.963;0.975	D	0.88911	0.3359	10	0.87932	D	0	-36.8523	14.2578	0.66062	0.0:0.8497:0.1502:0.0	.	91;91;57	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	V	91;46	ENSP00000221413:A91V;ENSP00000413890:A46V	ENSP00000221413:A91V	A	+	2	0	RUVBL2	54202093	1.000000	0.71417	0.924000	0.36721	0.919000	0.55068	7.016000	0.76393	1.403000	0.46800	0.561000	0.74099	GCG		0.632	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1		
RUVBL2	10856	hgsc.bcm.edu	37	19	49513087	49513087	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:49513087G>A	ENST00000595090.1	+	7	981	c.517G>A	c.(517-519)Gac>Aac	p.D173N	RUVBL2_ENST00000413176.2_Missense_Mutation_p.D128N|RUVBL2_ENST00000601968.1_Missense_Mutation_p.D128N	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	173					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GACCATCTACGACCTGGGCAC	0.622																																																	0			19											105.0	106.0	106.0					19																	49513087		2077	4208	6285	54204899	SO:0001583	missense	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.517G>A	19.37:g.49513087G>A	ENSP00000473172:p.Asp173Asn		54204899	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071038	0.93950	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.50001	0.76;0.93	4.31	4.31	0.51392	TIP49, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.986	T	0.80407	-0.1395	10	0.66056	D	0.02	-43.4915	14.6799	0.69009	0.0:0.0:1.0:0.0	.	173;173;139	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	N	173;128	ENSP00000221413:D173N;ENSP00000413890:D128N	ENSP00000221413:D173N	D	+	1	0	RUVBL2	54204899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.645000	0.91049	2.417000	0.82017	0.655000	0.94253	GAC		0.622	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1		
SLC6A16	28968	hgsc.bcm.edu	37	19	49813001	49813001	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:49813001G>A	ENST00000335875.4	-	5	1024	c.783C>T	c.(781-783)ggC>ggT	p.G261G	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Silent_p.G261G	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	261					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTGGTGACCCGCCATCCTCGA	0.537																																																	0			19											84.0	86.0	86.0					19																	49813001		1962	4148	6110	54504813	SO:0001819	synonymous_variant	28968			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.783C>T	19.37:g.49813001G>A			54504813	Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	CCDS42590.1																																																																																				0.537	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037	
POLD1	5424	hgsc.bcm.edu	37	19	50918238	50918238	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:50918238T>G	ENST00000440232.2	+	20	2608	c.2555T>G	c.(2554-2556)cTc>cGc	p.L852R	POLD1_ENST00000599857.1_Missense_Mutation_p.L852R|CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Missense_Mutation_p.L878R	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	852					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGCCGCCTGCTCATCGACCGG	0.701								DNA polymerases (catalytic subunits)																																									0			19											35.0	28.0	30.0					19																	50918238		2198	4298	6496	55610050	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2555T>G	19.37:g.50918238T>G	ENSP00000406046:p.Leu852Arg		55610050	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824474	0.50739	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.21932	1.98	4.45	3.41	0.39046	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.64402	D	0.000001	T	0.64832	0.2634	H	0.99811	4.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.74266	-0.3721	10	0.87932	D	0	-28.0817	9.5963	0.39576	0.1573:0.0:0.0:0.8427	.	878;852	E7EVW0;P28340	.;DPOD1_HUMAN	R	852;853	ENSP00000406046:L852R	ENSP00000366129:L853R	L	+	2	0	POLD1	55610050	1.000000	0.71417	0.931000	0.37212	0.292000	0.27327	7.358000	0.79466	0.672000	0.31204	0.235000	0.17854	CTC		0.701	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
CEACAM18	729767	hgsc.bcm.edu	37	19	51984817	51984817	+	Missense_Mutation	SNP	G	G	A	rs144039020	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:51984817G>A	ENST00000396477.4	+	3	592	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.V252I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	191										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAAGACCCTCGTCATCCTCAG	0.493													g|||	5	0.000998403	0.0	0.0	5008	,	,		21412	0.0		0.003	False		,,,				2504	0.002																0			19						G	ILE/VAL	0,3978		0,0,1989	84.0	78.0	80.0		754	-2.8	0.0	19	dbSNP_134	80	21,8333		0,21,4156	yes	missense	CEACAM18	NM_001080405.1	29	0,21,6145	AA,AG,GG		0.2514,0.0,0.1703	benign	252/399	51984817	21,12311	1989	4177	6166	56676629	SO:0001583	missense	729767					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.571G>A	19.37:g.51984817G>A	ENSP00000379738:p.Val191Ile		56676629	C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37		3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	.	0.069	-1.205756	0.01568	0.0	0.002514	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.77358	-1.09	2.72	-2.75	0.05914	Immunoglobulin-like fold (1);	.	.	.	.	T	0.53546	0.1803	N	0.13352	0.335	0.09310	N	1	B	0.17465	0.022	B	0.16289	0.015	T	0.38908	-0.9639	9	0.10377	T	0.69	-7.1095	7.1115	0.25392	0.6217:0.0:0.3783:0.0	.	252	A8MTB9	CEA18_HUMAN	I	252;191;191	ENSP00000402203:V252I	ENSP00000379738:V191I	V	+	1	0	CEACAM18	56676629	0.010000	0.17322	0.001000	0.08648	0.031000	0.12232	-0.824000	0.04438	-0.584000	0.05913	-0.259000	0.10710	GTC		0.493	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2		
ZNF614	80110	hgsc.bcm.edu	37	19	52520436	52520436	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:52520436A>G	ENST00000270649.6	-	5	959	c.415T>C	c.(415-417)Tca>Cca	p.S139P	ZNF614_ENST00000356322.6_Missense_Mutation_p.S139P	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTTAAACTTGATTTCAAATTT	0.328																																																	0			19											89.0	85.0	86.0					19																	52520436		2203	4299	6502	57212248	SO:0001583	missense	80110			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.415T>C	19.37:g.52520436A>G	ENSP00000270649:p.Ser139Pro		57212248	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094957	0.36952	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.07688	5.94;3.17	3.53	1.21	0.21127	.	.	.	.	.	T	0.09468	0.0233	L	0.41492	1.28	0.09310	N	1	B;D	0.55800	0.229;0.973	B;P	0.49301	0.081;0.606	T	0.29640	-1.0005	9	0.28530	T	0.3	.	5.9458	0.19217	0.7269:0.0:0.2731:0.0	.	139;139	Q8N883;Q9BSN8	ZN614_HUMAN;.	P	139	ENSP00000348674:S139P;ENSP00000270649:S139P	ENSP00000270649:S139P	S	-	1	0	ZNF614	57212248	0.025000	0.19082	0.013000	0.15412	0.306000	0.27790	0.554000	0.23407	0.432000	0.26286	0.482000	0.46254	TCA		0.328	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040	
DPRX	503834	hgsc.bcm.edu	37	19	54139893	54139893	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:54139893G>A	ENST00000376650.1	+	3	278	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	76					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAAGCGAAATGCAAGCATATT	0.458																																																	0			19											82.0	79.0	80.0					19																	54139893		2203	4300	6503	58831705	SO:0001583	missense	503834				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.227G>A	19.37:g.54139893G>A	ENSP00000365838:p.Cys76Tyr		58831705		Missense_Mutation	SNP	ENST00000376650.1	37	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	g	3.449	-0.112386	0.06881	.	.	ENSG00000204595	ENST00000376650	D	0.94376	-3.41	1.3	-2.04	0.07343	Homeobox (1);Homeodomain-like (1);	.	.	.	.	D	0.82430	0.5035	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68318	-0.5440	9	0.46703	T	0.11	.	1.5066	0.02487	0.3521:0.0:0.3291:0.3189	.	76	A6NFQ7	DPRX_HUMAN	Y	76	ENSP00000365838:C76Y	ENSP00000365838:C76Y	C	+	2	0	DPRX	58831705	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	-0.177000	0.09796	-0.553000	0.06158	0.561000	0.74099	TGC		0.458	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728	
TMC4	147798	hgsc.bcm.edu	37	19	54672280	54672280	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:54672280G>A	ENST00000376591.4	-	4	718	c.587C>T	c.(586-588)cCa>cTa	p.P196L	TMC4_ENST00000301187.4_Missense_Mutation_p.P190L|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	196					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGAGGGCCTGGGGGAGCGCC	0.647											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			19											25.0	21.0	23.0					19																	54672280		2181	4282	6463	59364092	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.587C>T	19.37:g.54672280G>A	ENSP00000365776:p.Pro196Leu	1002	59364092	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243900	0.22796	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.47528	0.84;0.84;0.84	4.2	3.14	0.36123	.	0.806849	0.11131	N	0.596274	T	0.38081	0.1027	L	0.54323	1.7	0.28196	N	0.927556	B;B	0.10296	0.001;0.003	B;B	0.10450	0.004;0.005	T	0.30208	-0.9986	10	0.11485	T	0.65	-33.1815	7.3095	0.26467	0.1205:0.0:0.8795:0.0	.	196;190	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	L	190;196;100	ENSP00000301187:P190L;ENSP00000365776:P196L;ENSP00000416444:P100L	ENSP00000301187:P190L	P	-	2	0	TMC4	59364092	0.960000	0.32886	0.816000	0.32577	0.683000	0.39861	1.596000	0.36718	2.071000	0.62044	0.558000	0.71614	CCA		0.647	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2		
TMEM86B	255043	hgsc.bcm.edu	37	19	55738752	55738752	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:55738752C>A	ENST00000327042.4	-	3	1000	c.478G>T	c.(478-480)Gcc>Tcc	p.A160S	AC010327.2_ENST00000598855.1_Silent_p.G38G	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	160					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CACAGCATGGCCATCAGGATC	0.687																																																	0			19											14.0	15.0	15.0					19																	55738752		2188	4286	6474	60430564	SO:0001583	missense	255043			BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.478G>T	19.37:g.55738752C>A	ENSP00000321038:p.Ala160Ser		60430564		Missense_Mutation	SNP	ENST00000327042.4	37	CCDS12920.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.109887	0.37242	.	.	ENSG00000180089	ENST00000327042	T	0.22336	1.96	4.79	-9.58	0.00559	.	1.089140	0.07015	N	0.825806	T	0.10551	0.0258	L	0.31926	0.97	0.09310	N	1	B	0.31413	0.322	B	0.34536	0.185	T	0.18272	-1.0342	10	0.18276	T	0.48	.	2.9176	0.05757	0.1917:0.1045:0.18:0.5238	.	160	Q8N661	TM86B_HUMAN	S	160	ENSP00000321038:A160S	ENSP00000321038:A160S	A	-	1	0	TMEM86B	60430564	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.638000	0.00407	-1.724000	0.01373	-0.136000	0.14681	GCC		0.687	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452659.1	NM_173804	
NLRP8	126205	hgsc.bcm.edu	37	19	56466501	56466501	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:56466501G>A	ENST00000291971.3	+	3	1148	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	NLRP8_ENST00000590542.1_Silent_p.T359T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	359	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGTTTAATACGATGGAAAAAA	0.453																																																	0			19											74.0	73.0	73.0					19																	56466501		2203	4300	6503	61158313	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1077G>A	19.37:g.56466501G>A			61158313	Q7RTR4	Silent	SNP	ENST00000291971.3	37	CCDS12937.1																																																																																				0.453	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
ZSCAN5B	342933	hgsc.bcm.edu	37	19	56701518	56701518	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:56701518C>T	ENST00000586855.2	-	5	1479	c.1166G>A	c.(1165-1167)cGg>cAg	p.R389Q	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R389Q			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	389					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R389L(1)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGCGCTTCCGACAGAGATC	0.527																																																	1	Substitution - Missense(1)	prostate(1)	19											75.0	79.0	78.0					19																	56701518		2177	4280	6457	61393330	SO:0001583	missense	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1166G>A	19.37:g.56701518C>T	ENSP00000466072:p.Arg389Gln		61393330		Missense_Mutation	SNP	ENST00000586855.2	37	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805258	0.16467	.	.	ENSG00000197213	ENST00000358992	T	0.14391	2.51	3.15	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.04373	-0.215	0.09310	N	1	P	0.34837	0.472	B	0.25987	0.065	T	0.30851	-0.9964	9	0.54805	T	0.06	.	1.5186	0.02511	0.1509:0.4449:0.1824:0.2217	.	389	A6NJL1	ZSA5B_HUMAN	Q	389	ENSP00000351883:R389Q	ENSP00000351883:R389Q	R	-	2	0	ZSCAN5B	61393330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.041000	0.12084	-0.535000	0.06307	-0.676000	0.03789	CGG		0.527	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456	
ZNF582	147948	hgsc.bcm.edu	37	19	56895627	56895627	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:56895627T>C	ENST00000301310.4	-	5	1317	c.1159A>G	c.(1159-1161)Aga>Gga	p.R387G	ZNF582_ENST00000586929.1_Missense_Mutation_p.R387G	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GTGTGAATTCTCTGATGTTGC	0.428																																					Ovarian(183;1887 2032 4349 30507 51343)												0			19											97.0	96.0	96.0					19																	56895627		2203	4300	6503	61587439	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1159A>G	19.37:g.56895627T>C	ENSP00000301310:p.Arg387Gly		61587439	B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132957	0.56828	.	.	ENSG00000018869	ENST00000301310	T	0.24723	1.84	4.76	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37761	N	0.001946	T	0.49133	0.1539	M	0.84511	2.7	0.29183	N	0.876351	D;D	0.89917	0.972;1.0	P;D	0.91635	0.702;0.999	T	0.46442	-0.9191	10	0.59425	D	0.04	.	6.8217	0.23861	0.0:0.0817:0.1519:0.7664	.	387;418	Q96NG8;B4DQZ9	ZN582_HUMAN;.	G	387	ENSP00000301310:R387G	ENSP00000301310:R387G	R	-	1	2	ZNF582	61587439	0.024000	0.19004	0.892000	0.35008	0.525000	0.34531	0.774000	0.26675	0.313000	0.23062	0.533000	0.62120	AGA		0.428	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690	
PEG3	5178	hgsc.bcm.edu	37	19	57328908	57328908	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:57328908C>T	ENST00000326441.9	-	10	1265	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	PEG3_ENST00000598410.1_Missense_Mutation_p.R177Q|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R175Q|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R301Q|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	301					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AATCCCCCGCCGGTGGGTTGA	0.458																																																	0			19											48.0	57.0	54.0					19																	57328908		2203	4298	6501	62020720	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.902G>A	19.37:g.57328908C>T	ENSP00000326581:p.Arg301Gln		62020720	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364023	0.41902	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02525	4.26;4.26	4.27	3.24	0.37175	.	0.163819	0.29178	N	0.012918	T	0.01835	0.0058	L	0.27053	0.805	.	.	.	P;P;P	0.43885	0.82;0.82;0.669	B;B;B	0.32864	0.097;0.154;0.022	T	0.37150	-0.9718	9	0.62326	D	0.03	-16.7107	5.3052	0.15799	0.2011:0.6968:0.0:0.102	.	177;301;236	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Q	301;301;271	ENSP00000326581:R301Q;ENSP00000403051:R301Q	ENSP00000292074:R271Q	R	-	2	0	ZIM2	62020720	0.016000	0.18221	0.417000	0.26559	0.987000	0.75469	0.419000	0.21247	1.395000	0.46643	0.561000	0.74099	CGG		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
C19orf18	147685	hgsc.bcm.edu	37	19	58483860	58483860	+	Missense_Mutation	SNP	G	G	A	rs139303329	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:58483860G>A	ENST00000314391.3	-	3	340	c.239C>T	c.(238-240)aCg>aTg	p.T80M		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	80						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CATGGGGTTCGTAGGGGATGC	0.463													G|||	8	0.00159744	0.0008	0.0029	5008	,	,		20372	0.0		0.005	False		,,,				2504	0.0																0			19						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	87.0	83.0	84.0		239	-4.1	0.0	19	dbSNP_134	84	46,8554	29.6+/-80.5	0,46,4254	yes	missense	C19orf18	NM_152474.4	81	0,47,6456	AA,AG,GG		0.5349,0.0227,0.3614	possibly-damaging	80/216	58483860	47,12959	2203	4300	6503	63175672	SO:0001583	missense	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.239C>T	19.37:g.58483860G>A	ENSP00000321519:p.Thr80Met		63175672		Missense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	5	0.0022893772893772895	0	0.0	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	G	9.613	1.131889	0.21041	2.27E-4	0.005349	ENSG00000177025	ENST00000314391	T	0.59364	0.27	2.76	-4.1	0.03940	.	2.304190	0.02283	N	0.069571	T	0.34716	0.0907	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	P	0.49683	0.619	T	0.34502	-0.9826	10	0.62326	D	0.03	-1.0539	1.4251	0.02321	0.1217:0.3127:0.2395:0.3261	.	80	Q8NEA5	CS018_HUMAN	M	80	ENSP00000321519:T80M	ENSP00000321519:T80M	T	-	2	0	C19orf18	63175672	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.571000	0.05889	-0.821000	0.04312	-1.094000	0.02160	ACG		0.463	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474	
ZNF135	7694	hgsc.bcm.edu	37	19	58579256	58579256	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:58579256C>T	ENST00000313434.5	+	5	1505	c.1404C>T	c.(1402-1404)tgC>tgT	p.C468C	ZNF135_ENST00000401053.4_Silent_p.C492C|ZNF135_ENST00000511556.1_Silent_p.C480C|ZNF135_ENST00000439855.2_Silent_p.C468C|ZNF135_ENST00000506786.1_Silent_p.C426C|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Intron	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	468					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCTATGAGTGCAGTCAGTGTG	0.567																																																	0			19											91.0	81.0	84.0					19																	58579256		2203	4300	6503	63271068	SO:0001819	synonymous_variant	7694			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1404C>T	19.37:g.58579256C>T			63271068	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.849953	0.00563	.	.	ENSG00000176293	ENST00000391699	.	.	.	2.65	-0.777	0.10981	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47005	-0.9150	4	.	.	.	.	7.6625	0.28410	0.0:0.6457:0.0:0.3543	.	.	.	.	V	486	.	.	A	+	2	0	ZNF135	63271068	0.000000	0.05858	0.073000	0.20177	0.002000	0.02628	-0.464000	0.06688	0.041000	0.15688	-0.259000	0.10710	GCA		0.567	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
ZNF324B	388569	hgsc.bcm.edu	37	19	58966975	58966975	+	Missense_Mutation	SNP	C	C	T	rs371148383		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:58966975C>T	ENST00000336614.4	+	4	771	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R222C|ZNF324B_ENST00000391696.1_Missense_Mutation_p.R212C	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	222					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)		TGGCAGGGATCGCAGAATGGG	0.667																																																	0			19						C	CYS/ARG	0,4406		0,0,2203	37.0	35.0	36.0		664	-0.1	0.0	19		36	1,8599		0,1,4299	no	missense	ZNF324B	NM_207395.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	222/545	58966975	1,13005	2203	4300	6503	63658787	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.664C>T	19.37:g.58966975C>T	ENSP00000337473:p.Arg222Cys		63658787	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	8.551	0.875598	0.17395	0.0	1.16E-4	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.08370	3.27;3.27;3.1	2.31	-0.0815	0.13702	.	.	.	.	.	T	0.04272	0.0118	N	0.19112	0.55	0.09310	N	1	D;D	0.57571	0.978;0.98	B;B	0.40329	0.153;0.326	T	0.34601	-0.9822	9	0.72032	D	0.01	.	0.9151	0.01303	0.2448:0.3638:0.2391:0.1523	.	222;212	Q6AW86;C9JTQ8	Z324B_HUMAN;.	C	222;222;212	ENSP00000337473:R222C;ENSP00000438930:R222C;ENSP00000375578:R212C	ENSP00000337473:R222C	R	+	1	0	ZNF324B	63658787	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.153000	0.16323	0.041000	0.15688	0.491000	0.48974	CGC		0.667	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395	
TRIM28	10155	hgsc.bcm.edu	37	19	59060556	59060556	+	Silent	SNP	G	G	A	rs142762100		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:59060556G>A	ENST00000253024.5	+	12	1900	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	TRIM28_ENST00000341753.6_Silent_p.A455A	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	537					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CAGGGACTGCGCCTGCAGGAA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18410	0.0		0.0	False		,,,				2504	0.001																0			19								0,4394		0,0,2197	46.0	57.0	53.0		1611	-7.4	0.0	19	dbSNP_134	53	7,8567		0,7,4280	no	coding-synonymous	TRIM28	NM_005762.2		0,7,6477	AA,AG,GG		0.0816,0.0,0.054		537/836	59060556	7,12961	2197	4287	6484	63752368	SO:0001819	synonymous_variant	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1611G>A	19.37:g.59060556G>A			63752368	O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	CCDS12985.1																																																																																				0.582	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762	
ARHGEF10	9639	hgsc.bcm.edu	37	8	1842705	1842705	+	Silent	SNP	C	C	T	rs147974725		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:1842705C>T	ENST00000398564.1	+	13	1482	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	ARHGEF10_ENST00000262112.6_Silent_p.S494S|ARHGEF10_ENST00000349830.3_Silent_p.S469S|ARHGEF10_ENST00000520359.1_Silent_p.S431S|ARHGEF10_ENST00000518288.1_Silent_p.S494S|ARHGEF10_ENST00000398560.1_Silent_p.S455S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	494	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)		AGTGGGACTCCGTGGAAATGA	0.547																																																	0			8											84.0	78.0	80.0					8																	1842705		2203	4300	6503	1830112	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.1482C>T	8.37:g.1842705C>T			1830112	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37																																																																																					0.547	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
CSMD1	64478	hgsc.bcm.edu	37	8	3087702	3087702	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:3087702C>T	ENST00000520002.1	-	28	4763	c.4208G>A	c.(4207-4209)cGc>cAc	p.R1403H	CSMD1_ENST00000400186.3_Missense_Mutation_p.R1403H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1403H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1402H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1402H|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1403H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1402H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1403	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCTCCATAGCGGGTGCCATT	0.522																																																	0			8											65.0	66.0	66.0					8																	3087702		1992	4179	6171	3075109	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4208G>A	8.37:g.3087702C>T	ENSP00000430733:p.Arg1403His		3075109	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	33	5.275374	0.95459	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	6.1	6.1	0.99115	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000003	T	0.52025	0.1709	M	0.64080	1.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.993;1.0	T	0.32798	-0.9893	10	0.46703	T	0.11	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	1403;1403;1403	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	H	1403;1403;1265;1402;1402;1402	ENSP00000383047:R1403H;ENSP00000430733:R1403H;ENSP00000441462:R1402H;ENSP00000446243:R1402H;ENSP00000441675:R1402H	ENSP00000320445:R1265H	R	-	2	0	CSMD1	3075109	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	7.634000	0.83273	2.902000	0.99343	0.650000	0.86243	CGC		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
ANGPT2	285	hgsc.bcm.edu	37	8	6372270	6372270	+	Silent	SNP	G	G	C	rs139416191		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:6372270G>C	ENST00000325203.5	-	6	1434	c.960C>G	c.(958-960)ggC>ggG	p.G320G	ANGPT2_ENST00000338312.6_Silent_p.G268G|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Silent_p.G319G|ANGPT2_ENST00000415216.1_Silent_p.G319G			O15123	ANGP2_HUMAN	angiopoietin 2	320	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TTGTCCACCCGCCTCCTCCAG	0.502																																																	0			8											150.0	161.0	158.0					8																	6372270		2203	4300	6503	6359678	SO:0001819	synonymous_variant	285			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.960C>G	8.37:g.6372270G>C			6359678	A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Silent	SNP	ENST00000325203.5	37	CCDS5958.1																																																																																				0.502	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147	
RP1L1	94137	hgsc.bcm.edu	37	8	10467948	10467948	+	Silent	SNP	G	G	A	rs375441998		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:10467948G>A	ENST00000382483.3	-	4	3883	c.3660C>T	c.(3658-3660)gaC>gaT	p.D1220D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1220					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.D1220D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGGGTGCCGTCCATGGCAC	0.582																																																	1	Substitution - coding silent(1)	breast(1)	8						G		0,4092		0,0,2046	37.0	40.0	39.0		3660	-1.7	0.0	8		39	3,8367		0,3,4182	no	coding-synonymous	RP1L1	NM_178857.5		0,3,6228	AA,AG,GG		0.0358,0.0,0.0241		1220/2401	10467948	3,12459	2046	4185	6231	10505358	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3660C>T	8.37:g.10467948G>A			10505358	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																				0.582	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
DLC1	10395	hgsc.bcm.edu	37	8	12960306	12960306	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:12960306C>T	ENST00000276297.4	-	8	1968	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q	DLC1_ENST00000520226.1_Missense_Mutation_p.R9Q|DLC1_ENST00000512044.2_Missense_Mutation_p.R117Q|DLC1_ENST00000358919.2_Missense_Mutation_p.R83Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	520					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CACTCGTTTCCGATGAGGACT	0.368																																																	0			8											186.0	180.0	182.0					8																	12960306		2203	4300	6503	13004677	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1559G>A	8.37:g.12960306C>T	ENSP00000276297:p.Arg520Gln		13004677	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034995	0.93575	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.46451	0.87;0.87;0.87;3.16	5.85	5.85	0.93711	.	0.052329	0.85682	D	0.000000	T	0.64494	0.2603	L	0.58810	1.83	0.80722	D	1	D;P;P	0.89917	1.0;0.788;0.954	D;B;P	0.85130	0.997;0.317;0.727	T	0.63070	-0.6719	10	0.72032	D	0.01	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	520;117;83	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	Q	520;83;117;9	ENSP00000276297:R520Q;ENSP00000351797:R83Q;ENSP00000422595:R117Q;ENSP00000428028:R9Q	ENSP00000276297:R520Q	R	-	2	0	DLC1	13004677	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.113000	0.50376	2.941000	0.99782	0.655000	0.94253	CGG		0.368	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
PSD3	23362	hgsc.bcm.edu	37	8	18393367	18393367	+	Silent	SNP	C	C	T	rs547134848		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:18393367C>T	ENST00000327040.8	-	16	3132	c.3030G>A	c.(3028-3030)tcG>tcA	p.S1010S	PSD3_ENST00000428502.2_Silent_p.S339S|PSD3_ENST00000286485.8_Silent_p.S476S|PSD3_ENST00000440756.2_Silent_p.S1012S|PSD3_ENST00000523619.1_Silent_p.S945S	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	1011					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GCGAAGGACTCGAGTGCGACT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18399	0.001		0.0	False		,,,				2504	0.0																0			8											194.0	156.0	169.0					8																	18393367		2203	4300	6503	18437647	SO:0001819	synonymous_variant	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.3030G>A	8.37:g.18393367C>T			18437647	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	CCDS43720.1																																																																																				0.493	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310	
CCAR2	57805	hgsc.bcm.edu	37	8	22472454	22472454	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:22472454G>A	ENST00000308511.4	+	11	1394	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Missense_Mutation_p.R57H|CCAR2_ENST00000389279.3_Missense_Mutation_p.R382H			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	382					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GTGCTGGTGCGTACCGCCATC	0.627																																																	0			8											50.0	39.0	42.0					8																	22472454		2202	4300	6502	22528399	SO:0001583	missense	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1145G>A	8.37:g.22472454G>A	ENSP00000310670:p.Arg382His		22528399	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	28.8|28.8|28.8	4.947511|4.947511|4.947511	0.92593|0.92593|0.92593	.|.|.	.|.|.	ENSG00000253200|ENSG00000158941|ENSG00000158941	ENST00000521025|ENST00000308511;ENST00000389279;ENST00000520861;ENST00000522599|ENST00000520738	.|T;T;T;T|.	.|0.51071|.	.|0.72;0.72;0.72;0.72|.	5.53|5.53|5.53	5.53|5.53|5.53	0.82687|0.82687|0.82687	.|.|.	0.226227|0.226227|.	0.38663|0.38663|.	N|N|.	0.001617|0.001617|.	T|T|T	0.73575|0.73575|0.73575	0.3604|0.3604|0.3604	M|M|M	0.64170|0.64170|0.64170	1.965|1.965|1.965	0.44736|0.44736|0.44736	D|D|D	0.997733|0.997733|0.997733	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.81914|.	.|0.995;0.986|.	T|T|T	0.70360|0.70360|0.70360	-0.4893|-0.4893|-0.4893	7|10|5	0.87932|0.72032|.	D|D|.	0|0.01|.	-16.5872|-16.5872|-16.5872	18.396|18.396|18.396	0.90499|0.90499|0.90499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|57;382|.	.|G3V119;Q8N163|.	.|.;K1967_HUMAN|.	C|H|I	13|382;382;57;200|74	.|ENSP00000310670:R382H;ENSP00000373930:R382H;ENSP00000429773:R57H;ENSP00000429739:R200H|.	ENSP00000429254:R13C|ENSP00000310670:R382H|.	R|R|V	-|+|+	1|2|1	0|0|0	RP11-582J16.5|KIAA1967|KIAA1967	22528399|22528399|22528399	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.952000|0.952000|0.952000	0.60782|0.60782|0.60782	4.225000|4.225000|4.225000	0.58600|0.58600|0.58600	2.882000|2.882000|2.882000	0.98803|0.98803|0.98803	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CGC|CGT|GTA		0.627	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174	
SCARA5	286133	hgsc.bcm.edu	37	8	27737221	27737221	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:27737221C>T	ENST00000354914.3	-	8	1701	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	SCARA5_ENST00000380385.2_Missense_Mutation_p.V181M	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	406	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TACACTTCCACGCGGCCCTCG	0.652																																																	0			8											88.0	74.0	79.0					8																	27737221		2203	4300	6503	27793140	SO:0001583	missense	286133			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1216G>A	8.37:g.27737221C>T	ENSP00000346990:p.Val406Met		27793140	Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	35	5.437083	0.96168	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.55930	0.49;0.49	4.96	4.96	0.65561	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000001	T	0.82231	0.4992	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.88713	0.3224	10	0.87932	D	0	.	16.0591	0.80826	0.0:1.0:0.0:0.0	.	181;406	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	M	406;181	ENSP00000346990:V406M;ENSP00000369746:V181M	ENSP00000346990:V406M	V	-	1	0	SCARA5	27793140	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.809000	0.62591	2.454000	0.82982	0.655000	0.94253	GTG		0.652	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833	
ZNF395	55893	hgsc.bcm.edu	37	8	28218518	28218518	+	Missense_Mutation	SNP	C	C	T	rs142226591		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:28218518C>T	ENST00000344423.5	-	2	255	c.124G>A	c.(124-126)Gct>Act	p.A42T	ZNF395_ENST00000523202.1_Missense_Mutation_p.A42T|ZNF395_ENST00000523095.1_Missense_Mutation_p.A42T	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGCTGGGGAGCGGCCCCTTCT	0.677																																																	0			8											23.0	26.0	25.0					8																	28218518		2203	4300	6503	28274437	SO:0001583	missense	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.124G>A	8.37:g.28218518C>T	ENSP00000340494:p.Ala42Thr		28274437	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	C	5.299	0.240616	0.10023	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290;ENST00000521185;ENST00000522795;ENST00000517459	T;T;T	0.44482	0.92;0.92;0.92	5.0	-2.12	0.07165	.	0.647835	0.14707	N	0.303176	T	0.20536	0.0494	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19386	-1.0307	10	0.19147	T	0.46	-0.2495	6.0804	0.19938	0.0:0.3702:0.4066:0.2232	.	42	Q9H8N7	ZN395_HUMAN	T	42	ENSP00000340494:A42T;ENSP00000429640:A42T;ENSP00000428452:A42T	ENSP00000340494:A42T	A	-	1	0	ZNF395	28274437	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.880000	0.04183	-0.221000	0.09973	-0.175000	0.13238	GCT		0.677	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1		
TTI2	80185	hgsc.bcm.edu	37	8	33361280	33361280	+	Silent	SNP	C	C	T	rs17850186	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:33361280C>T	ENST00000431156.2	-	5	1719	c.1101G>A	c.(1099-1101)ccG>ccA	p.P367P	TTI2_ENST00000520636.1_Silent_p.P336P|TTI2_ENST00000360742.5_Silent_p.P367P|TTI2_ENST00000519356.1_5'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	367																	TCACGAAAGCCGGCAGGTTTC	0.527													C|||	43	0.00858626	0.0023	0.0058	5008	,	,		17510	0.002		0.0229	False		,,,				2504	0.0112																0			8						C	,	17,4389	24.3+/-50.5	0,17,2186	33.0	31.0	32.0		1101,1101	-8.6	0.2	8	dbSNP_123	32	172,8428	78.4+/-141.0	3,166,4131	no	coding-synonymous,coding-synonymous	TTI2	NM_001102401.1,NM_025115.2	,	3,183,6317	TT,TC,CC		2.0,0.3858,1.4532	,	367/509,367/509	33361280	189,12817	2203	4300	6503	33480822	SO:0001819	synonymous_variant	80185			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1101G>A	8.37:g.33361280C>T			33480822	D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	37	CCDS6090.1																																																																																				0.527	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115	
UNC5D	137970	hgsc.bcm.edu	37	8	35579744	35579744	+	Silent	SNP	C	C	T	rs188758803	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:35579744C>T	ENST00000404895.2	+	9	1462	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	UNC5D_ENST00000287272.2_Silent_p.S322S|UNC5D_ENST00000420357.1_Silent_p.S311S|UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000453357.2_Silent_p.S373S|UNC5D_ENST00000416672.1_Silent_p.S383S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	378					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGAATGCCAGCGACATTGCTT	0.502													C|||	3	0.000599042	0.0	0.0	5008	,	,		20616	0.003		0.0	False		,,,				2504	0.0																0			8											227.0	201.0	209.0					8																	35579744		2203	4300	6503	35699286	SO:0001819	synonymous_variant	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1134C>T	8.37:g.35579744C>T			35699286	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																				0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
KCNU1	157855	hgsc.bcm.edu	37	8	36768480	36768480	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:36768480G>A	ENST00000399881.3	+	22	2401	c.2364G>A	c.(2362-2364)gcG>gcA	p.A788A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	788					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACCTCCATGCGGCCAACATAG	0.527																																																	0			8											100.0	104.0	103.0					8																	36768480		1991	4171	6162	36887638	SO:0001819	synonymous_variant	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2364G>A	8.37:g.36768480G>A			36887638		Silent	SNP	ENST00000399881.3	37	CCDS55220.1																																																																																				0.527	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
LSM1	27257	hgsc.bcm.edu	37	8	38027332	38027332	+	Silent	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:38027332T>C	ENST00000311351.4	-	3	614	c.219A>G	c.(217-219)ctA>ctG	p.L73L	LSM1_ENST00000520755.1_Intron|LSM1_ENST00000522515.1_5'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	73					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					TTTCTCCTAGTAGGACCACAT	0.358																																																	0			8											137.0	130.0	132.0					8																	38027332		2203	4300	6503	38146489	SO:0001819	synonymous_variant	27257			AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.219A>G	8.37:g.38027332T>C			38146489	B2R5E6	Silent	SNP	ENST00000311351.4	37	CCDS6103.1																																																																																				0.358	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1	NM_014462	
DDHD2	23259	hgsc.bcm.edu	37	8	38099780	38099780	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:38099780G>A	ENST00000397166.2	+	7	1250	c.725G>A	c.(724-726)cGc>cAc	p.R242H	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.R242H	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	242					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AATGATTTTCGCAGTGTTTCC	0.358																																																	0			8											84.0	83.0	83.0					8																	38099780		2203	4300	6503	38218937	SO:0001583	missense	23259			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.725G>A	8.37:g.38099780G>A	ENSP00000380352:p.Arg242His		38218937	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	CCDS34883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.95|18.95	3.731673|3.731673	0.69189|0.69189	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000532106|ENST00000397166;ENST00000532222;ENST00000520272;ENST00000440212	.|T;T;T	.|0.60040	.|1.07;0.22;1.07	5.48|5.48	4.58|4.58	0.56647|0.56647	.|.	.|0.056769	.|0.64402	.|D	.|0.000002	T|T	0.59046|0.59046	0.2165|0.2165	M|M	0.77712|0.77712	2.385|2.385	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52316	.|0.952;0.812	.|P;B	.|0.44518	.|0.452;0.317	T|T	0.64206|0.64206	-0.6462|-0.6462	5|10	.|0.72032	.|D	.|0.01	-10.6745|-10.6745	8.191|8.191	0.31368|0.31368	0.0783:0.0:0.7637:0.158|0.0783:0.0:0.7637:0.158	.|.	.|54;242	.|B4DSR3;O94830	.|.;DDHD2_HUMAN	T|H	35|242;212;242;54	.|ENSP00000380352:R242H;ENSP00000433578:R212H;ENSP00000429932:R242H	.|ENSP00000380352:R242H	A|R	+|+	1|2	0|0	DDHD2|DDHD2	38218937|38218937	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.840000|7.840000	0.86819|0.86819	1.260000|1.260000	0.44134|0.44134	0.467000|0.467000	0.42956|0.42956	GCA|CGC		0.358	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291	
LETM2	137994	hgsc.bcm.edu	37	8	38257891	38257891	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:38257891C>T	ENST00000379957.4	+	5	874	c.747C>T	c.(745-747)ggC>ggT	p.G249G	LETM2_ENST00000524874.1_Silent_p.G201G|LETM2_ENST00000527710.1_Silent_p.G35G|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000523983.2_Silent_p.G202G|LETM2_ENST00000297720.5_Silent_p.G154G	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	249	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCAAGATGGGCGATGCCTCTA	0.438																																																	0			8											127.0	103.0	111.0					8																	38257891		2203	4300	6503	38377048	SO:0001819	synonymous_variant	137994			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.747C>T	8.37:g.38257891C>T			38377048	A6NMG3|Q8NCR2|Q96LL1	Silent	SNP	ENST00000379957.4	37																																																																																					0.438	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652	
SLC20A2	6575	hgsc.bcm.edu	37	8	42294776	42294776	+	Silent	SNP	G	G	A	rs115234947	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:42294776G>A	ENST00000342228.3	-	8	1623	c.1254C>T	c.(1252-1254)ggC>ggT	p.G418G	SLC20A2_ENST00000520179.1_Silent_p.G418G|SLC20A2_ENST00000520262.1_Silent_p.G418G	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	418					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)	p.G418G(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACACGGTGTCGCCCACCAGCT	0.632													G|||	108	0.0215655	0.0809	0.0014	5008	,	,		17338	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)	8						G		254,4152	146.5+/-181.1	7,240,1956	69.0	63.0	65.0		1254	-11.7	0.0	8	dbSNP_132	65	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	SLC20A2	NM_006749.3		7,245,6251	AA,AG,GG		0.0581,5.7649,1.9914		418/653	42294776	259,12747	2203	4300	6503	42413933	SO:0001819	synonymous_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1254C>T	8.37:g.42294776G>A			42413933		Silent	SNP	ENST00000342228.3	37	CCDS6132.1																																																																																				0.632	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1		
TGS1	96764	hgsc.bcm.edu	37	8	56723473	56723473	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:56723473C>T	ENST00000260129.5	+	11	2654	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	726	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.A726G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GTTAAGATTGCCCTTGCTCGC	0.353																																					Esophageal Squamous(34;275 823 4842 34837 48447)												1	Substitution - Missense(1)	ovary(1)	8											206.0	208.0	207.0					8																	56723473		2203	4300	6503	56886027	SO:0001583	missense	286826			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2177C>T	8.37:g.56723473C>T	ENSP00000260129:p.Ala726Val		56886027	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706204	0.48412	.	.	ENSG00000137574	ENST00000260129	T	0.53206	0.63	5.57	4.42	0.53409	.	0.269103	0.39985	N	0.001217	T	0.40347	0.1113	L	0.60845	1.875	0.34928	D	0.749055	B	0.32031	0.352	B	0.31946	0.138	T	0.50693	-0.8798	10	0.40728	T	0.16	-21.6624	5.8816	0.18858	0.7161:0.1743:0.1096:0.0	.	726	Q96RS0	TGS1_HUMAN	V	726	ENSP00000260129:A726V	ENSP00000260129:A726V	A	+	2	0	TGS1	56886027	0.985000	0.35326	1.000000	0.80357	0.982000	0.71751	2.459000	0.45023	0.952000	0.37798	-0.262000	0.10625	GCC		0.353	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831	
PPP1R42	286187	hgsc.bcm.edu	37	8	67929897	67929897	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:67929897T>G	ENST00000324682.5	-	2	230	c.86A>C	c.(85-87)aAa>aCa	p.K29T	PPP1R42_ENST00000522909.1_Missense_Mutation_p.K29T|PPP1R42_ENST00000517834.1_5'UTR	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	29					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										ATGAGTTATTTTCTTCAGGCA	0.269																																																	0			8											62.0	60.0	61.0					8																	67929897		2201	4300	6501	68092451	SO:0001583	missense	286187			BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.86A>C	8.37:g.67929897T>G	ENSP00000315035:p.Lys29Thr		68092451		Missense_Mutation	SNP	ENST00000324682.5	37	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.394807	0.42512	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.40756	2.22;1.02	5.05	5.05	0.67936	.	0.143330	0.64402	D	0.000007	T	0.25232	0.0613	N	0.12611	0.24	0.46701	D	0.999167	B	0.13145	0.007	B	0.24394	0.053	T	0.07927	-1.0747	10	0.33141	T	0.24	-15.2332	9.3595	0.38186	0.0:0.0805:0.0:0.9195	.	29	Q7Z4L9-2	.	T	29	ENSP00000429721:K29T;ENSP00000315035:K29T	ENSP00000315035:K29T	K	-	2	0	LRRC67	68092451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.250000	0.51445	1.883000	0.54544	0.533000	0.62120	AAA		0.269	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626	
ARFGEF1	10565	hgsc.bcm.edu	37	8	68151106	68151106	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:68151106T>C	ENST00000262215.3	-	21	3391	c.3002A>G	c.(3001-3003)cAg>cGg	p.Q1001R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q455R|ARFGEF1_ENST00000518230.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1001					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGCTAGTGCCTGGACATATGC	0.368																																																	0			8											142.0	125.0	131.0					8																	68151106		2203	4300	6503	68313660	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3002A>G	8.37:g.68151106T>C	ENSP00000262215:p.Gln1001Arg		68313660	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358055	0.82243	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.52057	0.68;0.68	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.85130	0.997;0.885	T	0.71666	-0.4524	10	0.66056	D	0.02	.	15.5798	0.76425	0.0:0.0:0.0:1.0	.	1001;455	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	R	455;1001	ENSP00000428429:Q455R;ENSP00000262215:Q1001R	ENSP00000262215:Q1001R	Q	-	2	0	ARFGEF1	68313660	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.986000	0.88173	2.123000	0.65237	0.528000	0.53228	CAG		0.368	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
KCNB2	9312	hgsc.bcm.edu	37	8	73480416	73480416	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:73480416C>T	ENST00000523207.1	+	2	1035	c.447C>T	c.(445-447)aaC>aaT	p.N149N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	149					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AACAAATGAACGAAGAACTGA	0.458																																																	0			8											123.0	130.0	128.0					8																	73480416		2203	4300	6503	73642970	SO:0001819	synonymous_variant	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.447C>T	8.37:g.73480416C>T			73642970	Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	CCDS6209.1																																																																																				0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
ZNF704	619279	hgsc.bcm.edu	37	8	81571827	81571827	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:81571827C>T	ENST00000327835.3	-	7	1256	c.1025G>A	c.(1024-1026)gGc>gAc	p.G342D		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	342							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TACTGGGATGCCTGTGAAAGT	0.468																																																	0			8											185.0	197.0	193.0					8																	81571827		2203	4300	6503	81734382	SO:0001583	missense	619279			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.1025G>A	8.37:g.81571827C>T	ENSP00000331462:p.Gly342Asp		81734382	B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.973035	0.92919	.	.	ENSG00000164684	ENST00000327835	T	0.31510	1.49	5.62	5.62	0.85841	.	0.045882	0.85682	D	0.000000	T	0.53690	0.1812	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.34229	-0.9837	10	0.30078	T	0.28	-35.4145	20.0114	0.97452	0.0:1.0:0.0:0.0	.	342	Q6ZNC4	ZN704_HUMAN	D	342	ENSP00000331462:G342D	ENSP00000331462:G342D	G	-	2	0	ZNF704	81734382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.221000	0.78016	2.795000	0.96236	0.655000	0.94253	GGC		0.468	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723	
SLC10A5	347051	hgsc.bcm.edu	37	8	82606597	82606597	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:82606597G>A	ENST00000518568.1	-	1	1812	c.611C>T	c.(610-612)gCg>gTg	p.A204V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	204						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AAAAGCTTGCGCCTCAGGCAA	0.483																																																	0			8											84.0	91.0	89.0					8																	82606597		2203	4300	6503	82769152	SO:0001583	missense	347051				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.611C>T	8.37:g.82606597G>A	ENSP00000428612:p.Ala204Val		82769152	B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163952	0.38217	.	.	ENSG00000253598	ENST00000518568	T	0.12569	2.67	6.1	4.21	0.49690	.	0.247697	0.28382	N	0.015544	T	0.09774	0.0240	L	0.35723	1.085	0.35543	D	0.803248	P	0.37276	0.589	B	0.32980	0.156	T	0.28522	-1.0041	10	0.29301	T	0.29	-6.4121	8.9787	0.35953	0.0776:0.0:0.7742:0.1482	.	204	Q5PT55	NTCP5_HUMAN	V	204	ENSP00000428612:A204V	ENSP00000428612:A204V	A	-	2	0	SLC10A5	82769152	0.993000	0.37304	0.663000	0.29738	0.316000	0.28119	4.032000	0.57274	1.587000	0.49959	0.650000	0.86243	GCG		0.483	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493	
SNX31	169166	hgsc.bcm.edu	37	8	101642568	101642568	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:101642568T>A	ENST00000311812.2	-	4	458	c.308A>T	c.(307-309)aAa>aTa	p.K103I		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	103	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTGCGCCAGTTTTAAAAACTC	0.502																																																	0			8											94.0	77.0	83.0					8																	101642568		2203	4300	6503	101711744	SO:0001583	missense	169166				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.308A>T	8.37:g.101642568T>A	ENSP00000312368:p.Lys103Ile		101711744	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.195576	0.38806	.	.	ENSG00000174226	ENST00000311812;ENST00000520352;ENST00000520661	T;T;T	0.40476	1.03;1.03;1.03	5.23	2.68	0.31781	Phox homologous domain (5);	0.080070	0.50627	D	0.000110	T	0.41282	0.1152	L	0.37630	1.12	0.43421	D	0.99557	D	0.54772	0.968	P	0.55087	0.768	T	0.27054	-1.0085	10	0.62326	D	0.03	-11.3116	5.7639	0.18215	0.0:0.0891:0.3464:0.5645	.	103	Q8N9S9	SNX31_HUMAN	I	103;37;104	ENSP00000312368:K103I;ENSP00000428210:K37I;ENSP00000428855:K104I	ENSP00000312368:K103I	K	-	2	0	SNX31	101711744	0.444000	0.25649	0.407000	0.26434	0.421000	0.31385	0.482000	0.22276	0.804000	0.34136	0.454000	0.30748	AAA		0.502	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628	
FZD6	8323	hgsc.bcm.edu	37	8	104340566	104340566	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:104340566T>C	ENST00000358755.4	+	5	1780	c.1463T>C	c.(1462-1464)aTc>aCc	p.I488T	FZD6_ENST00000540287.1_Missense_Mutation_p.I183T|FZD6_ENST00000522566.1_Missense_Mutation_p.I488T|FZD6_ENST00000523739.1_Missense_Mutation_p.I456T	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	488					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ATTGTTGGCATCTCTGCTGTC	0.348																																																	0			8											108.0	112.0	111.0					8																	104340566		2203	4300	6503	104409742	SO:0001583	missense	8323			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1463T>C	8.37:g.104340566T>C	ENSP00000351605:p.Ile488Thr		104409742	B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593014	0.86953	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.169147	0.53938	D	0.000046	D	0.94591	0.8257	M	0.90019	3.08	0.58432	D	0.99999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.997;0.998;0.992	D	0.95592	0.8655	10	0.87932	D	0	.	15.8118	0.78571	0.0:0.0:0.0:1.0	.	433;183;488;488	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	T	488;488;456;183;433	ENSP00000429055:I488T;ENSP00000351605:I488T;ENSP00000429528:I456T;ENSP00000443757:I183T	ENSP00000351605:I488T	I	+	2	0	FZD6	104409742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.798000	0.85924	2.194000	0.70268	0.383000	0.25322	ATC		0.348	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506	
ZFPM2	23414	hgsc.bcm.edu	37	8	106813577	106813577	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:106813577A>G	ENST00000407775.2	+	8	1517	c.1267A>G	c.(1267-1269)Agc>Ggc	p.S423G	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S291G|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S291G|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S154G	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	423					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTTCCCCAGAGCCAAAAGGC	0.488																																																	0			8											63.0	64.0	64.0					8																	106813577		1965	4168	6133	106882753	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1267A>G	8.37:g.106813577A>G	ENSP00000384179:p.Ser423Gly		106882753	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	9.039	0.989232	0.18966	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.21031	2.03;2.5;2.5;3.7	5.91	2.29	0.28610	.	0.168138	0.64402	N	0.000003	T	0.15869	0.0382	L	0.43152	1.355	0.43283	D	0.995255	B	0.14012	0.009	B	0.14578	0.011	T	0.10222	-1.0639	10	0.17832	T	0.49	.	9.7369	0.40392	0.7361:0.0:0.2639:0.0	.	423	Q8WW38	FOG2_HUMAN	G	423;291;291;154	ENSP00000384179:S423G;ENSP00000430757:S291G;ENSP00000428720:S291G;ENSP00000367733:S154G	ENSP00000367733:S154G	S	+	1	0	ZFPM2	106882753	1.000000	0.71417	0.967000	0.41034	0.692000	0.40212	1.066000	0.30604	0.164000	0.19529	-0.256000	0.11100	AGC		0.488	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
KCNV1	27012	hgsc.bcm.edu	37	8	110986388	110986388	+	Missense_Mutation	SNP	C	C	A	rs112430047		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:110986388C>A	ENST00000524391.1	-	2	1262	c.230G>T	c.(229-231)cGc>cTc	p.R77L	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.R77L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	77					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGCCCCGGGGCGGCGGTAGGA	0.697																																																	0			8											15.0	15.0	15.0					8																	110986388		2192	4283	6475	111055564	SO:0001583	missense	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.230G>T	8.37:g.110986388C>A	ENSP00000435954:p.Arg77Leu		111055564	Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670431	0.47677	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	D;D	0.97505	-4.41;-4.41	4.95	3.99	0.46301	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.115933	0.39834	N	0.001256	D	0.92564	0.7638	L	0.27053	0.805	0.36563	D	0.872536	B	0.31383	0.321	B	0.32677	0.15	D	0.91970	0.5586	10	0.56958	D	0.05	.	7.391	0.26909	0.0:0.8814:0.0:0.1186	.	77	Q6PIU1	KCNV1_HUMAN	L	77	ENSP00000435954:R77L;ENSP00000297404:R77L	ENSP00000297404:R77L	R	-	2	0	KCNV1	111055564	0.885000	0.30320	1.000000	0.80357	0.776000	0.43924	0.018000	0.13422	2.554000	0.86153	0.655000	0.94253	CGC		0.697	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379	
TRPS1	7227	hgsc.bcm.edu	37	8	116599330	116599330	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:116599330C>T	ENST00000220888.5	-	4	2718	c.2559G>A	c.(2557-2559)ctG>ctA	p.L853L	TRPS1_ENST00000519674.1_Silent_p.L853L|TRPS1_ENST00000395715.3_Silent_p.L866L|TRPS1_ENST00000519076.1_Silent_p.L607L|TRPS1_ENST00000520276.1_Silent_p.L857L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	853					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)			GCGCCCCCTGCAGGAATCCCT	0.577									Langer-Giedion syndrome																																								0			8											32.0	34.0	33.0					8																	116599330		1819	4072	5891	116668505	SO:0001819	synonymous_variant	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.2559G>A	8.37:g.116599330C>T			116668505	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37																																																																																					0.577	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
ZHX2	22882	hgsc.bcm.edu	37	8	123964088	123964088	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:123964088C>T	ENST00000314393.4	+	3	1173	c.338C>T	c.(337-339)gCa>gTa	p.A113V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	113					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TACGTGTGTGCAGAATGTAAC	0.498																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)												0			8											103.0	93.0	96.0					8																	123964088		2203	4300	6503	124033269	SO:0001583	missense	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.338C>T	8.37:g.123964088C>T	ENSP00000314709:p.Ala113Val		124033269		Missense_Mutation	SNP	ENST00000314393.4	37	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748986	0.49257	.	.	ENSG00000178764	ENST00000314393	T	0.51071	0.72	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	N	0.25144	0.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48456	-0.9034	10	0.19590	T	0.45	-21.352	19.5336	0.95240	0.0:1.0:0.0:0.0	.	113	Q9Y6X8	ZHX2_HUMAN	V	113	ENSP00000314709:A113V	ENSP00000314709:A113V	A	+	2	0	ZHX2	124033269	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.724000	0.68500	2.637000	0.89404	0.455000	0.32223	GCA		0.498	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943	
SQLE	6713	hgsc.bcm.edu	37	8	126019685	126019685	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:126019685G>A	ENST00000265896.5	+	4	1676	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	SQLE_ENST00000523430.1_Missense_Mutation_p.V165M	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	260					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AGATGATGTTGTGATGGGAGT	0.343																																																	0			8											130.0	123.0	125.0					8																	126019685		1876	4088	5964	126088866	SO:0001583	missense	6713			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.778G>A	8.37:g.126019685G>A	ENSP00000265896:p.Val260Met		126088866	Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921373	0.73213	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193	T;T	0.56275	0.47;0.47	5.14	5.14	0.70334	.	0.123002	0.53938	D	0.000041	T	0.69548	0.3123	M	0.93106	3.38	0.48632	D	0.999684	P	0.49090	0.919	P	0.48795	0.59	T	0.78695	-0.2104	10	0.87932	D	0	-6.7754	14.0015	0.64436	0.0755:0.0:0.9244:0.0	.	260	Q14534	ERG1_HUMAN	M	165;260;65	ENSP00000430331:V165M;ENSP00000265896:V260M	ENSP00000265896:V260M	V	+	1	0	SQLE	126088866	1.000000	0.71417	0.880000	0.34516	0.790000	0.44656	6.398000	0.73244	2.427000	0.82271	0.298000	0.19748	GTG		0.343	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129	
TG	7038	hgsc.bcm.edu	37	8	133984918	133984918	+	Missense_Mutation	SNP	G	G	A	rs573866267		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:133984918G>A	ENST00000220616.4	+	34	6171	c.6131G>A	c.(6130-6132)cGc>cAc	p.R2044H	TG_ENST00000519543.1_Missense_Mutation_p.R198H|TG_ENST00000542445.1_Missense_Mutation_p.R414H|TG_ENST00000377869.1_Missense_Mutation_p.R1987H|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2044					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGCCTGGCGCATTTTGGAC	0.488																																																	0			8											165.0	148.0	154.0					8																	133984918		2203	4300	6503	134054100	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6131G>A	8.37:g.133984918G>A	ENSP00000220616:p.Arg2044His		134054100	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399079	0.62177	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.71103	-0.33;-0.34;-0.54;-0.42	5.74	3.0	0.34707	.	0.421904	0.23360	N	0.049025	T	0.80132	0.4567	M	0.77616	2.38	0.26929	N	0.966517	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.66979	0.948;0.891;0.88	T	0.70443	-0.4870	10	0.87932	D	0	.	7.0978	0.25319	0.2687:0.0:0.7313:0.0	.	198;414;2044	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	H	1987;850;2044;414;198	ENSP00000367100:R1987H;ENSP00000220616:R2044H;ENSP00000441693:R414H;ENSP00000430430:R198H	ENSP00000220616:R2044H	R	+	2	0	TG	134054100	0.990000	0.36364	0.481000	0.27354	0.844000	0.47949	2.316000	0.43761	0.785000	0.33685	-0.136000	0.14681	CGC		0.488	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
ZFAT	57623	hgsc.bcm.edu	37	8	135614700	135614700	+	Missense_Mutation	SNP	C	C	T	rs141961813		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:135614700C>T	ENST00000377838.3	-	6	1436	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	ZFAT_ENST00000520727.1_Missense_Mutation_p.R409H|ZFAT_ENST00000429442.2_Missense_Mutation_p.R409H|ZFAT_ENST00000520214.1_Missense_Mutation_p.R409H|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Missense_Mutation_p.R409H|ZFAT_ENST00000523399.1_Missense_Mutation_p.R359H	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	421					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CAGCATATGGCGGTCACGGTC	0.592																																																	0			8											47.0	51.0	49.0					8																	135614700		2064	4218	6282	135683882	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1262G>A	8.37:g.135614700C>T	ENSP00000367069:p.Arg421His		135683882	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397280	0.83120	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18	5.74	5.74	0.90152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.992;0.995	T	0.00135	-1.2007	10	0.34782	T	0.22	-33.6203	18.9218	0.92528	0.0:1.0:0.0:0.0	.	359;409;409;421	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	H	409;409;409;421;409;359;409	ENSP00000427879:R409H;ENSP00000427831:R409H;ENSP00000394501:R409H;ENSP00000367069:R421H;ENSP00000428483:R409H;ENSP00000429091:R359H	ENSP00000367069:R421H	R	-	2	0	ZFAT	135683882	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.079000	0.71291	2.717000	0.92951	0.563000	0.77884	CGC		0.592	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
FAM135B	51059	hgsc.bcm.edu	37	8	139180283	139180283	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:139180283C>T	ENST00000395297.1	-	12	1283	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	371										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTGGCTGTGCGTCTGTATCC	0.597										HNSCC(54;0.14)																																							0			8											86.0	93.0	91.0					8																	139180283		2105	4230	6335	139249465	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1113G>A	8.37:g.139180283C>T			139249465	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.597	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
SLC45A4	57210	hgsc.bcm.edu	37	8	142229024	142229024	+	Missense_Mutation	SNP	C	C	T	rs539535235	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:142229024C>T	ENST00000024061.3	-	4	869	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	SLC45A4_ENST00000433583.2_Missense_Mutation_p.A181T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A239T|SLC45A4_ENST00000519067.1_Missense_Mutation_p.A188T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AAGATGATGGCGGCAAAGAAG	0.662													C|||	9	0.00179712	0.0	0.0	5008	,	,		16769	0.0		0.0	False		,,,				2504	0.0092																0			8											93.0	97.0	95.0					8																	142229024		2203	4300	6503	142298206	SO:0001583	missense	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.562G>A	8.37:g.142229024C>T	ENSP00000024061:p.Ala188Thr		142298206	Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275776	0.59649	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.3	5.3	0.74995	.	0.100250	0.64402	D	0.000002	D	0.93354	0.7881	L	0.33093	0.98	0.46499	D	0.999071	D;D;B	0.69078	0.997;0.997;0.369	D;P;B	0.65684	0.937;0.859;0.249	D	0.92826	0.6276	10	0.38643	T	0.18	-35.8864	19.0189	0.92905	0.0:1.0:0.0:0.0	.	239;188;188	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	188;239;181;188;46	ENSP00000429059:A188T;ENSP00000428137:A239T;ENSP00000400799:A181T;ENSP00000024061:A188T;ENSP00000429033:A46T	ENSP00000024061:A188T	A	-	1	0	SLC45A4	142298206	0.999000	0.42202	0.995000	0.50966	0.983000	0.72400	4.358000	0.59442	2.479000	0.83701	0.555000	0.69702	GCC		0.662	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325	
PTP4A3	11156	hgsc.bcm.edu	37	8	142437905	142437905	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:142437905G>A	ENST00000521578.1	+	5	1330	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	PTP4A3_ENST00000329397.1_Missense_Mutation_p.A129T|PTP4A3_ENST00000520105.1_Intron|PTP4A3_ENST00000349124.1_Intron|PTP4A3_ENST00000524028.1_Missense_Mutation_p.A43T			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	129	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GTACGAGGACGCCATCCAGTT	0.682																																																	0			8											44.0	34.0	37.0					8																	142437905		2115	4181	6296	142507087	SO:0001583	missense	11156			AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.385G>A	8.37:g.142437905G>A	ENSP00000428976:p.Ala129Thr		142507087	Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	ENST00000521578.1	37	CCDS6383.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653096	0.88056	.	.	ENSG00000184489	ENST00000521578;ENST00000329397;ENST00000524028	D;D	0.82984	-1.67;-1.67	5.22	3.39	0.38822	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.91818	3.245	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	D	0.92054	0.5651	10	0.87932	D	0	-24.6015	10.1961	0.43056	0.1659:0.0:0.8341:0.0	.	129	O75365	TP4A3_HUMAN	T	129;129;43	ENSP00000428976:A129T;ENSP00000332274:A129T	ENSP00000332274:A129T	A	+	1	0	PTP4A3	142507087	1.000000	0.71417	0.635000	0.29338	0.984000	0.73092	6.579000	0.74036	1.327000	0.45338	0.407000	0.27541	GCC		0.682	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611	
JRK	8629	hgsc.bcm.edu	37	8	143746339	143746339	+	RNA	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:143746339C>T	ENST00000507178.2	-	0	1471							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cctccaggcccgcctgaagac	0.632																																																	0			8											10.0	11.0	11.0					8																	143746339		2082	4218	6300	143743341			8629			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746339C>T			143743341	O75565	Missense_Mutation	SNP	ENST00000507178.2	37																																																																																					0.632	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724	
GPAA1	8733	hgsc.bcm.edu	37	8	145139400	145139400	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:145139400G>A	ENST00000355091.4	+	7	1019	c.898G>A	c.(898-900)Ggc>Agc	p.G300S	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.G240S	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	300					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCAGGCCTCCGGCCGCCCCCA	0.627																																																	0			8											31.0	36.0	34.0					8																	145139400		2028	4173	6201	145211388	SO:0001583	missense	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.898G>A	8.37:g.145139400G>A	ENSP00000347206:p.Gly300Ser		145211388	Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.317906	0.81469	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000361036	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.78685	0.4322	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.77544	-0.2548	9	0.38643	T	0.18	-21.4343	16.7392	0.85454	0.0:0.0:1.0:0.0	.	300;240	O43292;O43292-2	GPAA1_HUMAN;.	S	300;228;240	.	ENSP00000347206:G300S	G	+	1	0	GPAA1	145211388	1.000000	0.71417	0.976000	0.42696	0.423000	0.31445	7.082000	0.76851	2.551000	0.86045	0.561000	0.74099	GGC		0.627	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801	
SLC52A2	79581	hgsc.bcm.edu	37	8	145583598	145583598	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:145583598T>C	ENST00000532887.1	+	3	1029	c.446T>C	c.(445-447)cTg>cCg	p.L149P	SLC52A2_ENST00000402965.1_Missense_Mutation_p.L149P|SLC52A2_ENST00000526891.1_3'UTR|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_Missense_Mutation_p.L149P|FBXL6_ENST00000455319.2_5'Flank|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.L61P|SLC52A2_ENST00000530047.1_Missense_Mutation_p.L149P|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Missense_Mutation_p.L149P			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	149					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TCATTCTTCCTGGGTCAAGGC	0.647																																																	0			8											135.0	137.0	136.0					8																	145583598		2203	4300	6503	145554406	SO:0001583	missense	79581			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.446T>C	8.37:g.145583598T>C	ENSP00000436768:p.Leu149Pro		145554406	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761597	0.69763	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000540505	D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	3.82	3.82	0.43975	.	0.178860	0.39909	N	0.001240	D	0.93785	0.8013	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.93276	0.6656	9	.	.	.	.	10.58	0.45250	0.0:0.0:0.0:1.0	.	149	Q9HAB3	RFT3_HUMAN	P	149;149;149;149;149;149;61	ENSP00000435820:L149P;ENSP00000434728:L149P;ENSP00000385961:L149P;ENSP00000431965:L149P;ENSP00000436768:L149P;ENSP00000333638:L149P;ENSP00000440400:L61P	.	L	+	2	0	GPR172A	145554406	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.692000	0.84203	1.600000	0.50102	0.379000	0.24179	CTG		0.647	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531	
GPT	2875	hgsc.bcm.edu	37	8	145732004	145732004	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:145732004G>A	ENST00000528431.1	+	10	1409	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	MFSD3_ENST00000301327.4_5'Flank|GPT_ENST00000394955.2_Missense_Mutation_p.V418M			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	418					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CTTCCCGCGCGTGCAGCTGCC	0.721																																																	0			8											9.0	7.0	7.0					8																	145732004		2064	4071	6135	145702812	SO:0001583	missense	2875				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1252G>A	8.37:g.145732004G>A	ENSP00000433586:p.Val418Met		145702812	B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	G	7.518	0.656084	0.14580	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	T;T	0.24538	1.85;1.85	4.54	-4.94	0.03057	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.192570	0.42964	N	0.000639	T	0.19446	0.0467	L	0.48260	1.515	0.18873	N	0.999985	B	0.27997	0.197	B	0.28784	0.094	T	0.13098	-1.0522	10	0.66056	D	0.02	-1.6278	12.529	0.56104	0.7825:0.0:0.2175:0.0	.	418	P24298	ALAT1_HUMAN	M	418	ENSP00000433586:V418M;ENSP00000378408:V418M	ENSP00000378408:V418M	V	+	1	0	GPT	145702812	0.180000	0.23148	0.001000	0.08648	0.024000	0.10985	0.679000	0.25291	-0.981000	0.03520	-1.069000	0.02264	GTG		0.721	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1		
MORN1	79906	hgsc.bcm.edu	37	1	2290147	2290147	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:2290147G>A	ENST00000378531.3	-	9	926	c.753C>T	c.(751-753)agC>agT	p.S251S	MORN1_ENST00000378529.3_Silent_p.S251S|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	251										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGACCCGGCCGCTCTCGCCTT	0.602																																																	0			1											56.0	53.0	54.0					1																	2290147		2203	4300	6503	2280007	SO:0001819	synonymous_variant	79906			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.753C>T	1.37:g.2290147G>A			2280007	A6NKZ6|Q8WW30|Q9H852	Silent	SNP	ENST00000378531.3	37	CCDS40.1																																																																																				0.602	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848	
PLEKHG5	57449	hgsc.bcm.edu	37	1	6534578	6534578	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:6534578C>A	ENST00000400915.3	-	7	606	c.540G>T	c.(538-540)caG>caT	p.Q180H	PLEKHG5_ENST00000400913.1_Missense_Mutation_p.Q124H|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.Q124H|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.Q124H|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.Q193H|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.Q124H|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.Q161H|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.Q203H|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.Q201H|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.Q201H|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.Q124H|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.Q124H	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	180					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GTGTGTTGGACTGGTCCAGGT	0.592																																																	0			1											125.0	86.0	99.0					1																	6534578		2203	4299	6502	6457165	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.540G>T	1.37:g.6534578C>A	ENSP00000383706:p.Gln180His		6457165	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.971364	0.74246	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.71341	-0.53;-0.53;-0.53;-0.54;-0.44;-0.54;-0.53;-0.52;-0.56;-0.53;-0.54;-0.52	4.41	2.49	0.30216	.	0.000000	0.64402	D	0.000001	T	0.78811	0.4342	L	0.59436	1.845	0.48452	D	0.999654	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.998	T	0.77718	-0.2483	10	0.72032	D	0.01	-31.1873	9.856	0.41086	0.0:0.826:0.0:0.174	.	193;124;201;201;180	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	H	201;124;124;180;201;161;124;124;193;124;30;203;124	ENSP00000366977:Q201H;ENSP00000344570:Q124H;ENSP00000383704:Q124H;ENSP00000383706:Q180H;ENSP00000366969:Q201H;ENSP00000366961:Q161H;ENSP00000366957:Q124H;ENSP00000366954:Q124H;ENSP00000441445:Q193H;ENSP00000366966:Q124H;ENSP00000439625:Q203H;ENSP00000437710:Q124H	ENSP00000344570:Q124H	Q	-	3	2	PLEKHG5	6457165	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.753000	0.47524	0.466000	0.27193	0.457000	0.33378	CAG		0.592	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631	
TNFRSF9	3604	hgsc.bcm.edu	37	1	7993346	7993346	+	Silent	SNP	C	C	T	rs150424591		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:7993346C>T	ENST00000377507.3	-	7	721	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	185					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGATCTGCGGAGAGTGTC	0.453																																																	0			1											90.0	76.0	81.0					1																	7993346		2203	4300	6503	7915933	SO:0001819	synonymous_variant	3604			L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.555G>A	1.37:g.7993346C>T			7915933		Silent	SNP	ENST00000377507.3	37	CCDS92.1																																																																																				0.453	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		
KIF1B	23095	hgsc.bcm.edu	37	1	10318717	10318717	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:10318717G>A	ENST00000377086.1	+	4	552	c.350G>A	c.(349-351)gGc>gAc	p.G117D	KIF1B_ENST00000377093.4_Missense_Mutation_p.G117D|KIF1B_ENST00000377083.1_Missense_Mutation_p.G117D|KIF1B_ENST00000263934.6_Missense_Mutation_p.G117D|KIF1B_ENST00000377081.1_Missense_Mutation_p.G117D			O60333	KIF1B_HUMAN	kinesin family member 1B	117	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGCCAGGCTGGCATCATTCCA	0.358																																																	0			1											87.0	84.0	85.0					1																	10318717		2203	4300	6503	10241304	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.350G>A	1.37:g.10318717G>A	ENSP00000366290:p.Gly117Asp		10241304	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	32	5.109208	0.94292	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.69	5.69	0.88448	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	H	0.99619	4.66	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;0.999	D	0.99342	1.0912	10	0.87932	D	0	.	19.8093	0.96541	0.0:0.0:1.0:0.0	.	117;117;117;117;117;117;117	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	D	117	ENSP00000263934:G117D;ENSP00000366297:G117D;ENSP00000366290:G117D;ENSP00000366287:G117D;ENSP00000366284:G117D	ENSP00000263934:G117D	G	+	2	0	KIF1B	10241304	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.776000	0.99001	2.688000	0.91661	0.460000	0.39030	GGC		0.358	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
CASZ1	54897	hgsc.bcm.edu	37	1	10709168	10709168	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:10709168G>A	ENST00000377022.3	-	15	3434	c.3117C>T	c.(3115-3117)ggC>ggT	p.G1039G	CASZ1_ENST00000344008.5_Silent_p.G1039G|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1039					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGAAGAGCGCGCCGCATTCCT	0.617																																																	0			1											45.0	44.0	44.0					1																	10709168		2203	4300	6503	10631755	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3117C>T	1.37:g.10709168G>A			10631755	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	CCDS41246.1																																																																																				0.617	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	
MIIP	60672	hgsc.bcm.edu	37	1	12089331	12089331	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:12089331C>T	ENST00000235332.4	+	6	877	c.708C>T	c.(706-708)gaC>gaT	p.D236D	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.D236D	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	236										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGGAGGAAGACCATGAATGTG	0.682																																																	0			1											22.0	27.0	26.0					1																	12089331		2203	4300	6503	12011918	SO:0001819	synonymous_variant	60672			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.708C>T	1.37:g.12089331C>T			12011918	C0KL22|Q96HU6|Q9H839|Q9HA00	Silent	SNP	ENST00000235332.4	37	CCDS143.1																																																																																				0.682	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933	
TNFRSF8	943	hgsc.bcm.edu	37	1	12183838	12183838	+	Silent	SNP	C	C	T	rs202227728	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:12183838C>T	ENST00000263932.2	+	10	1329	c.1107C>T	c.(1105-1107)agC>agT	p.S369S	TNFRSF8_ENST00000417814.2_Silent_p.S258S|TNFRSF8_ENST00000413146.2_5'Flank	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	369	Pro/Ser/Thr-rich.				cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	TCCCAACCAGCGCTCCCGTCG	0.647													C|||	3	0.000599042	0.0	0.0	5008	,	,		15042	0.003		0.0	False		,,,				2504	0.0																0			1											35.0	27.0	30.0					1																	12183838		2199	4293	6492	12106425	SO:0001819	synonymous_variant	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1107C>T	1.37:g.12183838C>T			12106425	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	CCDS144.1																																																																																				0.647	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		
VPS13D	55187	hgsc.bcm.edu	37	1	12333174	12333174	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:12333174C>A	ENST00000358136.3	+	18	2348	c.2218C>A	c.(2218-2220)Ctt>Att	p.L740I	VPS13D_ENST00000356315.4_Missense_Mutation_p.L740I	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGGAAGAATGCTTTTGACGAA	0.398																																																	0			1											146.0	142.0	143.0					1																	12333174		2203	4300	6503	12255761	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2218C>A	1.37:g.12333174C>A	ENSP00000350854:p.Leu740Ile		12255761		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561554	0.45590	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.53206	0.63;0.64	5.27	4.27	0.50696	.	0.000000	0.64402	D	0.000006	T	0.35740	0.0942	L	0.57536	1.79	0.80722	D	1	P;P	0.43287	0.802;0.702	B;B	0.36719	0.231;0.116	T	0.15150	-1.0447	10	0.23891	T	0.37	.	4.9976	0.14247	0.0:0.5327:0.0:0.4673	.	740;740	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	I	740	ENSP00000348666:L740I;ENSP00000350854:L740I	ENSP00000348666:L740I	L	+	1	0	VPS13D	12255761	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	2.809000	0.47971	1.070000	0.40811	0.585000	0.79938	CTT		0.398	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
PRAMEF20	645425	hgsc.bcm.edu	37	1	13742950	13742950	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:13742950A>G	ENST00000602960.1	+	1	143	c.139A>G	c.(139-141)Aga>Gga	p.R47G	PRAMEF20_ENST00000316412.5_Missense_Mutation_p.R47G			Q5VT98	PRA20_HUMAN	PRAME family member 20	47					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCAGCAGGAGACACTGTGA	0.617																																																	0			1											10.0	10.0	10.0					1																	13742950		2129	4195	6324	13615537	SO:0001583	missense	645425				CCDS41265.1	1p36.21	2014-07-15			ENSG00000204478	ENSG00000204478		"""-"""	25224	protein-coding gene	gene with protein product			"""PRAME family member 21"""	PRAMEF21			Standard	NM_001099852		Approved	OTTHUMG00000007911, OTTHUMT00000008157	uc009vnv.1	Q5VT98	OTTHUMG00000007911	ENST00000602960.1:c.139A>G	1.37:g.13742950A>G	ENSP00000473584:p.Arg47Gly		13615537		Missense_Mutation	SNP	ENST00000602960.1	37	CCDS41265.1	.	.	.	.	.	.	.	.	.	.	.	6.654	0.489177	0.12641	.	.	ENSG00000204478	ENST00000316412	T	0.11712	2.75	1.51	-2.72	0.05968	.	0.925980	0.09256	N	0.827218	T	0.10208	0.0250	L	0.53561	1.675	0.09310	N	1	.	.	.	.	.	.	T	0.37430	-0.9706	8	0.27082	T	0.32	.	2.493	0.04615	0.3949:0.2832:0.3219:0.0	.	.	.	.	G	47	ENSP00000346275:R47G	ENSP00000346275:R47G	R	+	1	2	PRAMEF20	13615537	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.331000	0.07914	-0.636000	0.05524	0.254000	0.18369	AGA		0.617	PRAMEF20-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021782.1	NM_001099852	
FHAD1	114827	hgsc.bcm.edu	37	1	15687100	15687100	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:15687100G>A	ENST00000375998.4	+	20	2797	c.2797G>A	c.(2797-2799)Gcc>Acc	p.A933T	FHAD1_ENST00000375999.3_Missense_Mutation_p.A933T|FHAD1_ENST00000358897.4_Missense_Mutation_p.A933T|FHAD1_ENST00000314740.8_Missense_Mutation_p.A186T|FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000417793.1_Missense_Mutation_p.A897T			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	933										skin(1)|stomach(1)	2						CAAACAGCACGCCCAGACAAT	0.463																																																	0			1											135.0	120.0	124.0					1																	15687100		692	1591	2283	15559687	SO:0001583	missense	114827			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.2797G>A	1.37:g.15687100G>A	ENSP00000365166:p.Ala933Thr		15559687	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	ENST00000375998.4	37		.	.	.	.	.	.	.	.	.	.	G	12.48	1.950515	0.34377	.	.	ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.35	0.0851	0.14440	.	.	.	.	.	T	0.19446	0.0467	N	0.14661	0.345	0.19575	N	0.999964	B;B;B	0.33073	0.003;0.003;0.396	B;B;B	0.22152	0.004;0.002;0.038	T	0.14783	-1.0460	9	0.21540	T	0.41	.	7.6605	0.28400	0.1342:0.0:0.4581:0.4078	.	186;933;933	B7WPP2;B1AJZ9-3;B1AJZ9	.;.;FHAD1_HUMAN	T	933;897;933;933;204;186;168	ENSP00000351770:A933T;ENSP00000407615:A897T;ENSP00000365167:A933T;ENSP00000365166:A933T;ENSP00000434909:A204T;ENSP00000322979:A186T;ENSP00000318812:A168T	ENSP00000318812:A168T	A	+	1	0	FHAD1	15559687	0.886000	0.30341	0.994000	0.49952	0.308000	0.27856	0.662000	0.25038	-0.246000	0.09611	-0.375000	0.07067	GCC		0.463	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000393400.2	NM_052929	
CROCC	9696	hgsc.bcm.edu	37	1	17277573	17277573	+	Missense_Mutation	SNP	C	C	T	rs3969856		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:17277573C>T	ENST00000375541.5	+	20	3031	c.2962C>T	c.(2962-2964)Cgg>Tgg	p.R988W	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGGGAGCAGCGGGCAGCTCA	0.592																																																	0			1											15.0	16.0	16.0					1																	17277573		2201	4293	6494	17150160	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2962C>T	1.37:g.17277573C>T	ENSP00000364691:p.Arg988Trp		17150160		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183903	0.57800	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.23147	1.92	4.83	3.91	0.45181	.	.	.	.	.	T	0.41581	0.1165	L	0.50333	1.59	0.32100	N	0.59074	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.51810	-0.8658	9	0.72032	D	0.01	.	11.1907	0.48683	0.1842:0.8158:0.0:0.0	rs3969856	291;988	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	W	988;869	ENSP00000364691:R988W	ENSP00000364691:R988W	R	+	1	2	CROCC	17150160	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	1.759000	0.38420	1.347000	0.45714	0.556000	0.70494	CGG		0.592	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675	
ATP13A2	23400	hgsc.bcm.edu	37	1	17314834	17314834	+	Silent	SNP	G	G	A	rs372361807		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:17314834G>A	ENST00000326735.8	-	24	2778	c.2745C>T	c.(2743-2745)tgC>tgT	p.C915C	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.C871C|ATP13A2_ENST00000452699.1_Silent_p.C910C			Q9NQ11	AT132_HUMAN	ATPase type 13A2	915					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCATGGGCACGCACTCAATAC	0.637																																																	0			1						G	,,	0,4406		0,0,2203	138.0	132.0	134.0		2730,2613,2745	1.0	1.0	1		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP13A2	NM_001141973.1,NM_001141974.1,NM_022089.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	910/1176,871/1159,915/1181	17314834	1,13005	2203	4300	6503	17187421	SO:0001819	synonymous_variant	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2745C>T	1.37:g.17314834G>A			17187421	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1																																																																																				0.637	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
ATP13A2	23400	hgsc.bcm.edu	37	1	17323636	17323636	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:17323636C>T	ENST00000326735.8	-	12	1107	c.1074G>A	c.(1072-1074)ccG>ccA	p.P358P	ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.P353P|ATP13A2_ENST00000452699.1_Silent_p.P353P			Q9NQ11	AT132_HUMAN	ATPase type 13A2	358					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCAGCCCCTCCGGCAGTGCCG	0.647																																																	0			1											70.0	70.0	70.0					1																	17323636		2203	4300	6503	17196223	SO:0001819	synonymous_variant	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1074G>A	1.37:g.17323636C>T			17196223	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1																																																																																				0.647	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
UBR4	23352	hgsc.bcm.edu	37	1	19467922	19467922	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:19467922T>C	ENST00000375254.3	-	57	8434	c.8407A>G	c.(8407-8409)Atg>Gtg	p.M2803V	UBR4_ENST00000375226.2_Missense_Mutation_p.M2814V|UBR4_ENST00000375267.2_Missense_Mutation_p.M2803V|UBR4_ENST00000375217.2_Missense_Mutation_p.M2831V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2803					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGTCCAGCATGGGGGGGAAG	0.587																																																	0			1											81.0	80.0	80.0					1																	19467922		2203	4300	6503	19340509	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8407A>G	1.37:g.19467922T>C	ENSP00000364403:p.Met2803Val		19340509	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.296259	0.40594	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.22743	1.94;1.94;1.94;1.96	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	N	0.14661	0.345	0.80722	D	1	B	0.31435	0.323	B	0.41332	0.354	T	0.15093	-1.0449	10	0.72032	D	0.01	.	15.4939	0.75634	0.0:0.0:0.0:1.0	.	2803	Q5T4S7	UBR4_HUMAN	V	2803;2803;2831;2814;446;1524	ENSP00000364403:M2803V;ENSP00000364416:M2803V;ENSP00000364365:M2831V;ENSP00000364374:M2814V	ENSP00000364365:M2831V	M	-	1	0	UBR4	19340509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.477000	0.81069	2.243000	0.73865	0.482000	0.46254	ATG		0.587	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
CELA3A	10136	hgsc.bcm.edu	37	1	22333381	22333381	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:22333381G>A	ENST00000290122.3	+	5	392	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	125	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAATGACATCGCCCTCATCAA	0.622																																																	0			1											85.0	77.0	80.0					1																	22333381		2199	4300	6499	22205968	SO:0001583	missense	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.373G>A	1.37:g.22333381G>A	ENSP00000290122:p.Ala125Thr		22205968	B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	CCDS220.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378138	0.82682	.	.	ENSG00000142789	ENST00000290122;ENST00000374661	T	0.40756	1.02	3.83	1.88	0.25563	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.53546	0.1803	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	P	0.56751	0.805	T	0.52837	-0.8522	9	0.72032	D	0.01	-54.2737	6.5062	0.22196	0.1014:0.0:0.7206:0.178	.	125	P09093	CEL3A_HUMAN	T	125;141	ENSP00000290122:A125T	ENSP00000290122:A125T	A	+	1	0	CELA3A	22205968	1.000000	0.71417	0.993000	0.49108	0.910000	0.53928	5.086000	0.64474	0.267000	0.21916	0.400000	0.26472	GCC		0.622	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747	
KDM1A	23028	hgsc.bcm.edu	37	1	23385581	23385581	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:23385581C>A	ENST00000356634.3	+	8	1177	c.1028C>A	c.(1027-1029)gCt>gAt	p.A343D	KDM1A_ENST00000542151.1_Missense_Mutation_p.A363D|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.A363D|MIR4419A_ENST00000583845.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	343	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AATCCTATGGCTGTGGTCAGC	0.358																																																	0			1											78.0	72.0	74.0					1																	23385581		2203	4300	6503	23258168	SO:0001583	missense	0			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1028C>A	1.37:g.23385581C>A	ENSP00000349049:p.Ala343Asp		23258168	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871458	0.72065	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.92699	-3.09;-3.09;-3.09	5.91	5.91	0.95273	Amine oxidase (1);	0.051448	0.85682	D	0.000000	D	0.85952	0.5817	N	0.25426	0.745	0.80722	D	1	P;B	0.34546	0.456;0.079	B;B	0.24269	0.052;0.051	D	0.83628	0.0143	10	0.24483	T	0.36	-19.1135	19.2767	0.94034	0.0:1.0:0.0:0.0	.	363;343	O60341-2;O60341	.;KDM1A_HUMAN	D	343;363;363	ENSP00000349049:A343D;ENSP00000383042:A363D;ENSP00000439072:A363D	ENSP00000349049:A343D	A	+	2	0	KDM1A	23258168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.791000	0.96007	0.650000	0.86243	GCT		0.358	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013	
SLC9A1	6548	hgsc.bcm.edu	37	1	27436136	27436136	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:27436136C>T	ENST00000263980.3	-	3	1521	c.946G>A	c.(946-948)Gca>Aca	p.A316T	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Missense_Mutation_p.A316T	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	316					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GTGAAGGCTGCGATGACCCCG	0.602																																																	0			1											171.0	158.0	162.0					1																	27436136		2203	4300	6503	27308723	SO:0001583	missense	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.946G>A	1.37:g.27436136C>T	ENSP00000263980:p.Ala316Thr		27308723	B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	CCDS295.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.405387	0.83230	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	T;T	0.14893	2.47;2.47	5.96	5.03	0.67393	Cation/H+ exchanger (1);	0.045838	0.85682	D	0.000000	T	0.18045	0.0433	L	0.36672	1.1	0.80722	D	1	D;P	0.53462	0.96;0.673	P;B	0.45881	0.496;0.265	T	0.02546	-1.1143	10	0.23891	T	0.37	.	15.0582	0.71930	0.1432:0.8568:0.0:0.0	.	316;316	P19634-2;P19634	.;SL9A1_HUMAN	T	316	ENSP00000263980:A316T;ENSP00000363199:A316T	ENSP00000263980:A316T	A	-	1	0	SLC9A1	27308723	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.815000	0.86186	1.489000	0.48450	0.651000	0.88453	GCA		0.602	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047	
WDTC1	23038	hgsc.bcm.edu	37	1	27631523	27631523	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:27631523G>A	ENST00000319394.3	+	15	2210	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	WDTC1_ENST00000361771.3_Missense_Mutation_p.D558N	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	559					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TGGCTCTGACGATGGCTCCTT	0.587																																																	0			1											72.0	58.0	63.0					1																	27631523		2203	4300	6503	27504110	SO:0001583	missense	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1675G>A	1.37:g.27631523G>A	ENSP00000317971:p.Asp559Asn		27504110	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37		.	.	.	.	.	.	.	.	.	.	G	27.5	4.833158	0.91036	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	D;D	0.88046	-2.33;-2.33	4.82	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.91738	0.5402	10	0.33141	T	0.24	.	12.6205	0.56600	0.0808:0.0:0.9192:0.0	.	559;558	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	N	559;558	ENSP00000317971:D559N;ENSP00000355317:D558N	ENSP00000317971:D559N	D	+	1	0	WDTC1	27504110	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.453000	0.80700	1.243000	0.43853	0.455000	0.32223	GAT		0.587	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023	
ZNF362	149076	hgsc.bcm.edu	37	1	33747200	33747200	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:33747200C>G	ENST00000539719.1	+	6	866	c.696C>G	c.(694-696)tgC>tgG	p.C232W	ZNF362_ENST00000373428.5_Missense_Mutation_p.C232W	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTAAGGTATGCCCACTGACCT	0.562																																					Pancreas(162;1431 2676 35353 38425)												0			1											115.0	100.0	105.0					1																	33747200		2203	4300	6503	33519787	SO:0001583	missense	149076				CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.696C>G	1.37:g.33747200C>G	ENSP00000446335:p.Cys232Trp		33519787	Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	CCDS377.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122662	0.56613	.	.	ENSG00000160094	ENST00000539719;ENST00000373428	D;D	0.98947	-5.26;-5.26	5.48	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.299519	0.24180	N	0.040812	D	0.98732	0.9574	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.98683	1.0693	10	0.72032	D	0.01	-21.7464	9.6262	0.39752	0.0:0.8315:0.0:0.1685	.	232	Q5T0B9	ZN362_HUMAN	W	232	ENSP00000446335:C232W;ENSP00000362527:C232W	ENSP00000362527:C232W	C	+	3	2	ZNF362	33519787	0.998000	0.40836	0.998000	0.56505	0.922000	0.55478	0.711000	0.25764	0.684000	0.31448	0.561000	0.74099	TGC		0.562	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493	
EPHA10	284656	hgsc.bcm.edu	37	1	38219959	38219959	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:38219959C>T	ENST00000373048.4	-	4	933	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	EPHA10_ENST00000427468.2_Missense_Mutation_p.A312T|EPHA10_ENST00000330210.7_Intron|EPHA10_ENST00000540011.1_5'Flank|EPHA10_ENST00000446149.2_Intron	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	312					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGTGGAGGCGTTTTCCAGG	0.697																																																	0			1											23.0	31.0	28.0					1																	38219959		1943	4096	6039	37992546	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.934G>A	1.37:g.38219959C>T	ENSP00000362139:p.Ala312Thr		37992546	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.644881	0.87859	.	.	ENSG00000183317	ENST00000427468;ENST00000373048	D;D	0.97404	-4.37;-4.37	3.98	3.98	0.46160	.	0.249563	0.20990	N	0.082041	D	0.98018	0.9347	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	P	0.61800	0.894	D	0.98917	1.0782	10	0.87932	D	0	.	15.2231	0.73330	0.0:1.0:0.0:0.0	.	312	Q5JZY3	EPHAA_HUMAN	T	312	ENSP00000397746:A312T;ENSP00000362139:A312T	ENSP00000362139:A312T	A	-	1	0	EPHA10	37992546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.644000	0.74338	2.054000	0.61138	0.493000	0.49557	GCC		0.697	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
ZNF684	127396	hgsc.bcm.edu	37	1	41012494	41012494	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:41012494G>A	ENST00000372699.3	+	5	750	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	167					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(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			ATGCGGGAAAGCCTTCAAAAA	0.333																																																	0			1											39.0	42.0	41.0					1																	41012494		2200	4300	6500	40785081	SO:0001583	missense	127396				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.499G>A	1.37:g.41012494G>A	ENSP00000361784:p.Ala167Thr		40785081	Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	CCDS454.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752378	0.31046	.	.	ENSG00000117010	ENST00000372699	T	0.48836	0.8	4.05	-1.41	0.08941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.738509	0.11129	N	0.596523	T	0.24509	0.0594	N	0.21508	0.67	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.21314	-1.0249	10	0.26408	T	0.33	.	0.6665	0.00851	0.3822:0.1687:0.2776:0.1715	.	167	Q5T5D7	ZN684_HUMAN	T	167	ENSP00000361784:A167T	ENSP00000361784:A167T	A	+	1	0	ZNF684	40785081	0.000000	0.05858	0.947000	0.38551	0.563000	0.35712	-0.446000	0.06837	-0.120000	0.11809	0.591000	0.81541	GCC		0.333	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373	
CLDN19	149461	hgsc.bcm.edu	37	1	43200781	43200781	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:43200781G>A	ENST00000296387.1	-	5	841	c.651C>T	c.(649-651)tcC>tcT	p.S217S	CLDN19_ENST00000539749.1_3'UTR|CLDN19_ENST00000372539.3_3'UTR	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	217					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCCTTGGCGGAGGCGGGCA	0.552																																																	0			1											70.0	72.0	71.0					1																	43200781		2203	4300	6503	42973368	SO:0001819	synonymous_variant	149461			AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.651C>T	1.37:g.43200781G>A			42973368	B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Silent	SNP	ENST00000296387.1	37	CCDS471.1																																																																																				0.552	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960	
SZT2	23334	hgsc.bcm.edu	37	1	43909271	43909271	+	Missense_Mutation	SNP	C	C	T	rs543404828		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:43909271C>T	ENST00000562955.1	+	61	8458	c.8458C>T	c.(8458-8460)Cgc>Tgc	p.R2820C	SZT2_ENST00000372442.1_Missense_Mutation_p.R1978C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2877					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCATAGCGGCGCCATCGCCC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17748	0.0		0.0	False		,,,				2504	0.0																0			1											54.0	56.0	55.0					1																	43909271		2203	4300	6503	43681858	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8458C>T	1.37:g.43909271C>T	ENSP00000457168:p.Arg2820Cys		43681858	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305275	0.60305	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.36	5.36	0.76844	.	0.054620	0.64402	D	0.000001	T	0.74558	0.3732	L	0.43152	1.355	0.41169	D	0.986151	D	0.89917	1.0	D	0.79108	0.992	T	0.76860	-0.2803	9	0.72032	D	0.01	.	19.1475	0.93475	0.0:1.0:0.0:0.0	.	2820	Q5T011-5	.	C	1978	.	ENSP00000361519:R1978C	R	+	1	0	SZT2	43681858	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	3.591000	0.53986	2.514000	0.84764	0.650000	0.86243	CGC		0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
PTPRF	5792	hgsc.bcm.edu	37	1	44071004	44071004	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:44071004C>T	ENST00000359947.4	+	18	3619	c.3279C>T	c.(3277-3279)atC>atT	p.I1093I	PTPRF_ENST00000372413.3_Silent_p.I1084I|PTPRF_ENST00000372414.3_Silent_p.I1093I|PTPRF_ENST00000438120.1_Silent_p.I1084I|PTPRF_ENST00000422171.2_Silent_p.I441I|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1093	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGTGTCCATCCGCACAGCCC	0.632																																																	0			1											53.0	56.0	55.0					1																	44071004		2203	4300	6503	43843591	SO:0001819	synonymous_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3279C>T	1.37:g.44071004C>T			43843591	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.29|10.29	1.310518|1.310518	0.23821|0.23821	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.31|5.31	1.26|1.26	0.21427|0.21427	.|.	.|.	.|.	.|.	.|.	T|T	0.51466|0.51466	0.1676|0.1676	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35624|0.35624	-0.9781|-0.9781	4|4	.|.	.|.	.|.	.|.	5.1938|5.1938	0.15225|0.15225	0.1318:0.59:0.0:0.2782|0.1318:0.59:0.0:0.2782	.|.	.|.	.|.	.|.	S|F	466;507|739	.|.	.|.	P|S	+|+	1|2	0|0	PTPRF|PTPRF	43843591|43843591	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.939000|0.939000	0.58152|0.58152	1.000000|1.000000	0.29770|0.29770	0.056000|0.056000	0.16144|0.16144	-0.229000|-0.229000	0.12294|0.12294	CCG|TCC		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
MAST2	23139	hgsc.bcm.edu	37	1	46290200	46290200	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:46290200G>A	ENST00000361297.2	+	2	556	c.273G>A	c.(271-273)ctG>ctA	p.L91L	MAST2_ENST00000372009.2_Silent_p.L91L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGCGACAACTGAGTCAGGATG	0.413																																																	0			1											165.0	147.0	153.0					1																	46290200		1850	4092	5942	46062787	SO:0001819	synonymous_variant	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.273G>A	1.37:g.46290200G>A			46062787		Silent	SNP	ENST00000361297.2	37	CCDS41326.1																																																																																				0.413	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
MKNK1	8569	hgsc.bcm.edu	37	1	47046209	47046209	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:47046209G>T	ENST00000371946.4	-	4	390	c.227C>A	c.(226-228)gCc>gAc	p.A76D	MKNK1_ENST00000428112.2_Missense_Mutation_p.A76D|MKNK1_ENST00000371944.4_Missense_Mutation_p.P6T|MKNK1_ENST00000341183.5_Missense_Mutation_p.A76D|MKNK1_ENST00000545730.1_Missense_Mutation_p.A76D|MKNK1_ENST00000371945.4_Missense_Mutation_p.A76D|MKNK1_ENST00000465783.1_Missense_Mutation_p.A76D	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CACTTTGACGGCATACTCTTT	0.433																																																	0			1											146.0	116.0	126.0					1																	47046209		2203	4300	6503	46818796	SO:0001583	missense	8569			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.227C>A	1.37:g.47046209G>T	ENSP00000361014:p.Ala76Asp		46818796	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	CCDS538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.186223|5.186223	0.94885|0.94885	.|.	.|.	ENSG00000079277|ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000341183;ENST00000428112;ENST00000532783;ENST00000496619;ENST00000528237;ENST00000545730;ENST00000529170;ENST00000531769;ENST00000465783|ENST00000371944	T;T;T;T;T;T;T;T;T;T;T|T	0.72394|0.59224	0.45;0.45;0.45;0.45;-0.65;-0.02;-0.65;1.62;-0.65;-0.65;1.62|0.28	5.49|5.49	5.49|5.49	0.81192|0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73697|0.73697	0.3620|0.3620	H|H	0.97516|0.97516	4.02|4.02	0.80722|0.80722	D|D	1|1	D;D;D;D|B;B	0.89917|0.13145	1.0;1.0;1.0;1.0|0.007;0.007	D;D;D;D|B;B	0.97110|0.12837	1.0;1.0;0.995;0.999|0.008;0.008	T|T	0.76833|0.76833	-0.2813|-0.2813	10|9	0.87932|0.87932	D|D	0|0	.|.	16.9239|16.9239	0.86170|0.86170	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	76;76;76;76|6;6	B4E1V9;Q9BUB5-3;Q9BUB5-2;Q9BUB5|B4DQK5;Q7Z319	.;.;.;MKNK1_HUMAN|.;.	D|T	76;76;76;76;64;76;70;76;76;76;76|6	ENSP00000361014:A76D;ENSP00000361013:A76D;ENSP00000339573:A76D;ENSP00000411135:A76D;ENSP00000431837:A64D;ENSP00000436709:A76D;ENSP00000432665:A70D;ENSP00000440974:A76D;ENSP00000435163:A76D;ENSP00000434021:A76D;ENSP00000434834:A76D|ENSP00000361012:P6T	ENSP00000339573:A76D|ENSP00000361012:P6T	A|P	-|-	2|1	0|0	MKNK1|MKNK1	46818796|46818796	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.854000|8.854000	0.92228|0.92228	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.433	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684	
C1orf177	163747	hgsc.bcm.edu	37	1	55277593	55277593	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:55277593C>T	ENST00000371273.3	+	5	622	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	C1orf177_ENST00000358193.3_Missense_Mutation_p.R203W	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	203										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GCCACACCCCCGGCCTTATCA	0.637																																																	0			1											63.0	62.0	63.0					1																	55277593		2203	4300	6503	55050181	SO:0001583	missense	163747			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.607C>T	1.37:g.55277593C>T	ENSP00000360320:p.Arg203Trp		55050181	B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.322951	0.41096	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.24151	1.87;1.87	4.66	-9.32	0.00643	.	1.106640	0.07143	N	0.847768	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	P;P	0.51933	0.949;0.949	P;P	0.44696	0.458;0.458	T	0.37407	-0.9707	10	0.66056	D	0.02	.	3.0915	0.06295	0.1741:0.3798:0.2879:0.1582	.	203;203	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	W	203	ENSP00000350924:R203W;ENSP00000360320:R203W	ENSP00000350924:R203W	R	+	1	2	C1orf177	55050181	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.469000	0.00992	-2.699000	0.00399	-1.099000	0.02127	CGG		0.637	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	
C1orf177	163747	hgsc.bcm.edu	37	1	55307313	55307313	+	Intron	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:55307313C>T	ENST00000371273.3	+	10	1199				C1orf177_ENST00000358193.3_Silent_p.G403G	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177											breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						gttggaaaggcctagaagtca	0.463																																																	0			1											185.0	156.0	165.0					1																	55307313		2203	4300	6503	55079901	SO:0001627	intron_variant	163747			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.1185-161C>T	1.37:g.55307313C>T			55079901	B7WPL2|Q8N7Y9	Silent	SNP	ENST00000371273.3	37	CCDS44153.1																																																																																				0.463	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	
PCSK9	255738	hgsc.bcm.edu	37	1	55509560	55509560	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:55509560G>A	ENST00000302118.5	+	2	542	c.252G>A	c.(250-252)gaG>gaA	p.E84E	PCSK9_ENST00000452118.2_Silent_p.E84E|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	84					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGCTGAAGGAGGAGACCCACC	0.627																																					Pancreas(137;1454 1827 5886 22361 42375)												0			1											58.0	50.0	53.0					1																	55509560		2203	4300	6503	55282148	SO:0001819	synonymous_variant	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.252G>A	1.37:g.55509560G>A			55282148	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	CCDS603.1																																																																																				0.627	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936	
DOCK7	85440	hgsc.bcm.edu	37	1	62923331	62923331	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:62923331A>T	ENST00000340370.5	-	48	6182	c.6165T>A	c.(6163-6165)gaT>gaA	p.D2055E	DOCK7_ENST00000251157.5_Missense_Mutation_p.D2075E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2086	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACTCCTTTTGATCCGGCCCAA	0.408																																																	0			1											191.0	186.0	188.0					1																	62923331		2203	4300	6503	62695919	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.6165T>A	1.37:g.62923331A>T	ENSP00000340742:p.Asp2055Glu		62695919	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.180652|5.180652	0.94846|0.94846	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	T;T|.	0.16324|.	2.35;2.35|.	5.99|5.99	3.69|3.69	0.42338|0.42338	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61173|0.61173	0.2326|0.2326	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.996;0.966;1.0;0.98;0.98;0.981|.	D;P;D;D;P;P|.	0.87578|.	0.991;0.872;0.998;0.952;0.789;0.86|.	T|T	0.59852|0.59852	-0.7376|-0.7376	10|5	0.66056|.	D|.	0.02|.	.|.	4.4891|4.4891	0.11805|0.11805	0.5633:0.0:0.4367:0.0|0.5633:0.0:0.4367:0.0	.|.	2086;2075;2055;2044;2046;2077|.	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	DOCK7_HUMAN;.;.;.;.;.|.	E|T	2086;2075;2055;816|1249	ENSP00000251157:D2075E;ENSP00000340742:D2055E|.	ENSP00000251157:D2075E|.	D|S	-|-	3|1	2|0	DOCK7|DOCK7	62695919|62695919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.756000|2.756000	0.47549|0.47549	1.100000|1.100000	0.41517|0.41517	0.533000|0.533000	0.62120|0.62120	GAT|TCA		0.408	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
CACHD1	57685	hgsc.bcm.edu	37	1	65098317	65098317	+	Missense_Mutation	SNP	A	A	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:65098317A>C	ENST00000371073.2	+	6	680	c.680A>C	c.(679-681)aAg>aCg	p.K227T	CACHD1_ENST00000290039.5_Missense_Mutation_p.K176T|CACHD1_ENST00000495994.1_Intron			Q5VU97	CAHD1_HUMAN	cache domain containing 1	227					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCGCAGTCAAAGCACATAGTA	0.532																																																	0			1											103.0	105.0	104.0					1																	65098317		2058	4190	6248	64870905	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.680A>C	1.37:g.65098317A>C	ENSP00000360113:p.Lys227Thr		64870905	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	A	19.64	3.865331	0.71949	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.21543	2.0;2.0	5.67	5.67	0.87782	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	L	0.34521	1.04	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.02781	-1.1111	10	0.56958	D	0.05	-27.9969	15.9204	0.79562	1.0:0.0:0.0:0.0	.	227	Q5VU97	CAHD1_HUMAN	T	227;176	ENSP00000360113:K227T;ENSP00000290039:K176T	ENSP00000290039:K176T	K	+	2	0	CACHD1	64870905	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	8.923000	0.92808	2.164000	0.68074	0.533000	0.62120	AAG		0.532	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
JAK1	3716	hgsc.bcm.edu	37	1	65312354	65312354	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:65312354G>A	ENST00000342505.4	-	14	2213	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	655	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACACAGACGCCATAGAGGT	0.582			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0			1											91.0	99.0	96.0					1																	65312354		2149	4277	6426	65084942	SO:0001819	synonymous_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1965C>T	1.37:g.65312354G>A			65084942	Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	CCDS41346.1																																																																																				0.582	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
WDR78	79819	hgsc.bcm.edu	37	1	67370934	67370934	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:67370934G>A	ENST00000371026.3	-	2	350	c.295C>T	c.(295-297)Cct>Tct	p.P99S	WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000488333.1_Missense_Mutation_p.P27S|WDR78_ENST00000371022.3_Missense_Mutation_p.P99S|WDR78_ENST00000371023.3_Missense_Mutation_p.P99S	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	99					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTCAGTTCAGGTGGAATAAGC	0.353																																																	0			1											169.0	165.0	166.0					1																	67370934		2203	4300	6503	67143522	SO:0001583	missense	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.295C>T	1.37:g.67370934G>A	ENSP00000360065:p.Pro99Ser		67143522	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	8.645	0.896910	0.17686	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022;ENST00000488333	T;T;T	0.57273	0.41;2.17;1.42	3.99	0.916	0.19373	.	0.864181	0.09984	N	0.730633	T	0.16685	0.0401	L	0.57536	1.79	0.21325	N	0.999723	B;B;B	0.32653	0.379;0.024;0.024	B;B;B	0.31686	0.134;0.005;0.005	T	0.28839	-1.0031	10	0.06757	T	0.87	-3.7865	3.0691	0.06224	0.2455:0.0:0.5467:0.2077	.	99;99;99	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	S	99;99;99;27	ENSP00000360065:P99S;ENSP00000360062:P99S;ENSP00000360061:P99S	ENSP00000360061:P99S	P	-	1	0	WDR78	67143522	0.089000	0.21612	0.017000	0.16124	0.008000	0.06430	0.186000	0.16978	0.196000	0.20367	0.555000	0.69702	CCT		0.353	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	
IL12RB2	3595	hgsc.bcm.edu	37	1	67787453	67787453	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:67787453G>A	ENST00000262345.1	+	3	885	c.245G>A	c.(244-246)gGc>gAc	p.G82D	IL12RB2_ENST00000541374.1_Missense_Mutation_p.G82D|IL12RB2_ENST00000371000.1_Missense_Mutation_p.G82D|IL12RB2_ENST00000544434.1_Missense_Mutation_p.G82D	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	82					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						TTTCACCATGGCCACTCCCTC	0.413																																																	0			1											176.0	168.0	170.0					1																	67787453		2203	4300	6503	67560041	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.245G>A	1.37:g.67787453G>A	ENSP00000262345:p.Gly82Asp		67560041	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855432	0.51376	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.41758	0.99;1.06;1.06;1.95	5.81	4.89	0.63831	Immunoglobulin C2-set-like, ligand-binding (1);	0.669659	0.16657	N	0.204940	T	0.33527	0.0866	L	0.32530	0.975	0.09310	N	1	B;D;P;D	0.67145	0.171;0.996;0.804;0.961	B;D;B;P	0.64237	0.181;0.923;0.308;0.602	T	0.08554	-1.0716	10	0.30854	T	0.27	-12.3366	9.8164	0.40856	0.091:0.0:0.909:0.0	.	82;82;82;82	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	D	82	ENSP00000262345:G82D;ENSP00000360039:G82D;ENSP00000445276:G82D;ENSP00000442443:G82D	ENSP00000262345:G82D	G	+	2	0	IL12RB2	67560041	0.111000	0.22076	0.021000	0.16686	0.005000	0.04900	3.202000	0.51067	2.739000	0.93911	0.650000	0.86243	GGC		0.413	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
WLS	79971	hgsc.bcm.edu	37	1	68619317	68619317	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:68619317C>A	ENST00000262348.4	-	5	939	c.686G>T	c.(685-687)gGc>gTc	p.G229V	GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.G138V|WLS_ENST00000354777.2_Missense_Mutation_p.G227V|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Missense_Mutation_p.G229V	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	229	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTTGGTGAAGCCTCCATTTTG	0.463																																																	0			1											125.0	103.0	110.0					1																	68619317		2203	4300	6503	68391905	SO:0001583	missense	79971			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.686G>T	1.37:g.68619317C>A	ENSP00000262348:p.Gly229Val		68391905	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	CCDS642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.556091|4.556091	0.86231|0.86231	.|.	.|.	ENSG00000116729|ENSG00000116729	ENST00000534713|ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976;ENST00000533537;ENST00000530486;ENST00000370973	.|T;T;T;T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62233|0.62233	0.2411|0.2411	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.67292|0.67292	-0.5707|-0.5707	5|10	.|0.87932	.|D	.|0	-3.929|-3.929	18.9753|18.9753	0.92733|0.92733	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|229;138;229;227	.|F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.|.;.;WLS_HUMAN;.	S|V	132|229;227;229;138;96;184;96	.|ENSP00000446112:G229V;ENSP00000346829:G227V;ENSP00000262348:G229V;ENSP00000360015:G138V;ENSP00000433690:G96V;ENSP00000433111:G184V;ENSP00000360012:G96V	.|ENSP00000262348:G229V	A|G	-|-	1|2	0|0	WLS|WLS	68391905|68391905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.629000|7.629000	0.83207|0.83207	2.480000|2.480000	0.83734|0.83734	0.563000|0.563000	0.77884|0.77884	GCT|GGC		0.463	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911	
LRRC7	57554	hgsc.bcm.edu	37	1	70504434	70504434	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:70504434A>G	ENST00000035383.5	+	19	2843	c.2813A>G	c.(2812-2814)gAt>gGt	p.D938G	LRRC7_ENST00000415775.2_Missense_Mutation_p.D222G|LRRC7_ENST00000310961.5_Missense_Mutation_p.D943G	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	938						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTAATGAAAGATATCAAGTCT	0.368																																																	0			1											57.0	58.0	58.0					1																	70504434		2203	4300	6503	70277022	SO:0001583	missense	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.2813A>G	1.37:g.70504434A>G	ENSP00000035383:p.Asp938Gly		70277022	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	8.668	0.902252	0.17760	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37058	1.22;1.3;2.39	5.67	5.67	0.87782	.	0.053861	0.64402	D	0.000001	T	0.24890	0.0604	L	0.47716	1.5	0.54753	D	0.999987	B;P;P	0.50272	0.161;0.933;0.89	B;P;B	0.44811	0.075;0.461;0.272	T	0.02126	-1.1209	10	0.35671	T	0.21	.	15.0844	0.72138	1.0:0.0:0.0:0.0	.	222;938;938	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	G	943;938;222;761	ENSP00000309245:D943G;ENSP00000035383:D938G;ENSP00000394867:D222G	ENSP00000035383:D938G	D	+	2	0	LRRC7	70277022	1.000000	0.71417	0.997000	0.53966	0.170000	0.22686	8.703000	0.91344	2.169000	0.68431	0.383000	0.25322	GAT		0.368	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
FPGT	8790	hgsc.bcm.edu	37	1	74665348	74665348	+	Splice_Site	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:74665348G>A	ENST00000609362.1	+	2	120	c.83G>A	c.(82-84)gGc>gAc	p.G28D	FPGT_ENST00000370898.3_Splice_Site_p.G41D|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT-TNNI3K_ENST00000370895.1_Splice_Site_p.G28D|FPGT_ENST00000482102.2_Splice_Site_p.G50D|FPGT_ENST00000370894.5_Splice_Site_p.G28D|LRRIQ3_ENST00000370911.3_5'Flank|FPGT-TNNI3K_ENST00000370893.1_Splice_Site_p.G28D|LRRIQ3_ENST00000354431.4_5'Flank|LRRIQ3_ENST00000370909.2_5'Flank|FPGT_ENST00000524915.1_3'UTR|FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.G28D|FPGT_ENST00000534056.1_Splice_Site_p.G28D|FPGT_ENST00000467578.2_Splice_Site_p.G41D|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.G41D|TNNI3K_ENST00000370891.2_Splice_Site_p.G28D	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	28					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TTCCAAATAGGCAAACTTGTA	0.378																																																	0			1											82.0	82.0	82.0					1																	74665348		2203	4300	6503	74437936	SO:0001630	splice_region_variant	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.83-1G>A	1.37:g.74665348G>A			74437936	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797894	0.50208	.	.	ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000467578;ENST00000524915;ENST00000482102;ENST00000370898;ENST00000370894;ENST00000534056;ENST00000472069;ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000370893	T;T;T;T;T;T	0.75938	1.4;0.86;-0.97;-0.68;-0.98;-0.98	4.9	4.9	0.64082	.	0.073118	0.53938	U	0.000051	D	0.82591	0.5070	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.984;0.978	D;D;D;D;P;P	0.91635	0.972;0.998;0.999;0.999;0.742;0.46	T	0.82504	-0.0424	9	.	.	.	.	17.2321	0.86987	0.0:0.0:1.0:0.0	.	28;28;28;28;28;28	B4DH62;E9PNQ2;Q59H18-1;Q59H18-4;Q59H18-3;O14772	.;.;.;.;.;FPGT_HUMAN	D	28;28;50;28;28;28;26;28;28;28;28;28;28	ENSP00000359935:G28D;ENSP00000432819:G28D;ENSP00000359936:G28D;ENSP00000359932:G28D;ENSP00000450895:G28D;ENSP00000359928:G28D	.	G	+	2	0	RP11-653A5.2;TNNI3K;AC093158.1	74437936	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	6.247000	0.72411	2.417000	0.82017	0.585000	0.79938	GGC		0.378	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation
GBP4	115361	hgsc.bcm.edu	37	1	89651001	89651001	+	Missense_Mutation	SNP	A	A	G	rs61746918		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:89651001A>G	ENST00000355754.6	-	11	1956	c.1859T>C	c.(1858-1860)gTc>gCc	p.V620A	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	620						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AGGTAGAGTGACAATCATTAT	0.348																																																	0			1											128.0	113.0	118.0					1																	89651001		2203	4300	6503	89423589	SO:0001583	missense	115361			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1859T>C	1.37:g.89651001A>G	ENSP00000359490:p.Val620Ala		89423589	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	A	0.077	-1.191681	0.01607	.	.	ENSG00000162654	ENST00000355754	T	0.56444	0.46	4.0	-8.0	0.01126	.	1.419030	0.04801	N	0.433511	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05784	-1.0864	10	0.15952	T	0.53	.	2.2661	0.04079	0.4915:0.1797:0.1532:0.1755	.	620	Q96PP9	GBP4_HUMAN	A	620	ENSP00000359490:V620A	ENSP00000359490:V620A	V	-	2	0	GBP4	89423589	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.968000	0.00669	-3.553000	0.00142	-1.957000	0.00481	GTC		0.348	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941	
DPYD	1806	hgsc.bcm.edu	37	1	98165012	98165012	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:98165012A>G	ENST00000370192.3	-	6	675	c.575T>C	c.(574-576)cTt>cCt	p.L192P	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	192					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AGCACCAAAAAGAGCAATCTT	0.433																																																	0			1											158.0	158.0	158.0					1																	98165012		2203	4300	6503	97937600	SO:0001583	missense	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.575T>C	1.37:g.98165012A>G	ENSP00000359211:p.Leu192Pro		97937600	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286559	0.80803	.	.	ENSG00000188641	ENST00000370192	D	0.82893	-1.66	5.5	5.5	0.81552	Alpha-helical ferredoxin (1);	0.067190	0.64402	D	0.000009	D	0.90748	0.7096	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92572	0.6067	10	0.87932	D	0	-18.4137	15.5975	0.76599	1.0:0.0:0.0:0.0	.	192	Q12882	DPYD_HUMAN	P	192	ENSP00000359211:L192P	ENSP00000359211:L192P	L	-	2	0	DPYD	97937600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.920000	0.92779	2.094000	0.63399	0.477000	0.44152	CTT		0.433	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
AGL	178	hgsc.bcm.edu	37	1	100343239	100343239	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:100343239A>G	ENST00000294724.4	+	12	1944	c.1466A>G	c.(1465-1467)gAc>gGc	p.D489G	AGL_ENST00000370165.3_Missense_Mutation_p.D489G|AGL_ENST00000370163.3_Missense_Mutation_p.D489G|AGL_ENST00000361302.3_Missense_Mutation_p.D473G|AGL_ENST00000370161.2_Missense_Mutation_p.D473G|AGL_ENST00000361522.4_Missense_Mutation_p.D472G|AGL_ENST00000361915.3_Missense_Mutation_p.D489G	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	489					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGCTGGGGAGACAGTGTTAAA	0.363																																																	0			1											102.0	99.0	100.0					1																	100343239		2203	4300	6503	100115827	SO:0001583	missense	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1466A>G	1.37:g.100343239A>G	ENSP00000294724:p.Asp489Gly		100115827	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838082	0.91117	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.97	5.97	0.96955	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97687	1.0176	10	0.87932	D	0	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	472;473;489	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	G	489;489;489;489;473;473;472	ENSP00000355106:D489G;ENSP00000359184:D489G;ENSP00000359182:D489G;ENSP00000294724:D489G;ENSP00000354971:D473G;ENSP00000359180:D473G;ENSP00000354635:D472G	ENSP00000294724:D489G	D	+	2	0	AGL	100115827	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.896000	0.92521	2.288000	0.76882	0.533000	0.62120	GAC		0.363	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
MYBPHL	343263	hgsc.bcm.edu	37	1	109837737	109837737	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:109837737C>T	ENST00000357155.1	-	7	1099	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	MYBPHL_ENST00000477962.1_5'UTR	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	350										central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CCTTACCTTTCACATCCACCC	0.587																																																	0			1											101.0	94.0	96.0					1																	109837737		2203	4300	6503	109639260	SO:0001819	synonymous_variant	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.1050G>A	1.37:g.109837737C>T			109639260	B7ZME5|Q5T2Z7	Silent	SNP	ENST00000357155.1	37	CCDS30793.1																																																																																				0.587	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985	
GPR61	83873	hgsc.bcm.edu	37	1	110086222	110086222	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:110086222C>A	ENST00000527748.1	+	2	1261	c.578C>A	c.(577-579)cCa>cAa	p.P193Q	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGTGTCCCCCCAGGCTGTTCA	0.582																																																	0			1											161.0	152.0	155.0					1																	110086222		2203	4300	6503	109887745	SO:0001583	missense	83873			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.578C>A	1.37:g.110086222C>A	ENSP00000432456:p.Pro193Gln		109887745	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676267	0.29783	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36157	1.27	5.68	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.190927	0.42548	D	0.000698	T	0.12433	0.0302	L	0.35854	1.095	0.41312	D	0.987119	B	0.32350	0.366	B	0.30855	0.121	T	0.05886	-1.0858	10	0.18710	T	0.47	-2.3848	10.4248	0.44371	0.0:0.7518:0.1728:0.0754	.	193	Q9BZJ8	GPR61_HUMAN	Q	193;321	ENSP00000432456:P193Q	ENSP00000286603:P321Q	P	+	2	0	GPR61	109887745	0.032000	0.19561	0.998000	0.56505	0.979000	0.70002	1.554000	0.36266	1.393000	0.46605	0.655000	0.94253	CCA		0.582	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1		
STRIP1	85369	hgsc.bcm.edu	37	1	110587643	110587643	+	Silent	SNP	G	G	A	rs143183603	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:110587643G>A	ENST00000369795.3	+	12	1381	c.1359G>A	c.(1357-1359)acG>acA	p.T453T	STRIP1_ENST00000369796.1_Silent_p.T358T	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	453					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.T453T(1)									CCAGTGACACGAACACAGTGG	0.512													G|||	4	0.000798722	0.003	0.0	5008	,	,		15888	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	ovary(1)	1						G		8,4398	14.3+/-33.2	0,8,2195	114.0	113.0	113.0		1359	-10.2	0.4	1	dbSNP_134	113	0,8600		0,0,4300	no	coding-synonymous	FAM40A	NM_033088.2		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		453/838	110587643	8,12998	2203	4300	6503	110389166	SO:0001819	synonymous_variant	85369			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1359G>A	1.37:g.110587643G>A			110389166	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	CCDS30798.1																																																																																				0.512	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088	
KCNC4	3749	hgsc.bcm.edu	37	1	110766275	110766275	+	Silent	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:110766275T>C	ENST00000369787.3	+	2	1395	c.1368T>C	c.(1366-1368)tgT>tgC	p.C456C	KCNC4_ENST00000438661.2_Silent_p.C456C|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.C456C	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	456					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGCACTGTGTGCACTGGCTG	0.602																																																	0			1											119.0	101.0	107.0					1																	110766275		2203	4300	6503	110567798	SO:0001819	synonymous_variant	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1368T>C	1.37:g.110766275T>C			110567798	Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	CCDS821.1																																																																																				0.602	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574	
KCND3	3752	hgsc.bcm.edu	37	1	112524649	112524649	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:112524649C>T	ENST00000315987.2	-	2	1179	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	KCND3_ENST00000369697.1_Missense_Mutation_p.V234I|KCND3_ENST00000302127.4_Missense_Mutation_p.V234I	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	234					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.V234I(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AAGATCATGACGCACGCCGTG	0.667																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|endometrium(1)	1											36.0	36.0	36.0					1																	112524649		2203	4300	6503	112326172	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.700G>A	1.37:g.112524649C>T	ENSP00000319591:p.Val234Ile		112326172	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146250	0.77888	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.98512	-4.97;-4.97;-4.97	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97117	0.9058	L	0.28776	0.89	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.70227	0.968;0.968	D	0.95496	0.8573	10	0.10111	T	0.7	.	18.9981	0.92821	0.0:1.0:0.0:0.0	.	234;234	Q14D71;Q9UK17	.;KCND3_HUMAN	I	234	ENSP00000358711:V234I;ENSP00000319591:V234I;ENSP00000306923:V234I	ENSP00000306923:V234I	V	-	1	0	KCND3	112326172	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.089000	0.71384	2.590000	0.87494	0.563000	0.77884	GTC		0.667	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
TRIM33	51592	hgsc.bcm.edu	37	1	114944078	114944078	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:114944078T>C	ENST00000358465.2	-	17	2983	c.2900A>G	c.(2899-2901)gAa>gGa	p.E967G	TRIM33_ENST00000450349.2_Missense_Mutation_p.E599G|TRIM33_ENST00000476908.1_5'Flank|TRIM33_ENST00000369543.2_Missense_Mutation_p.E967G	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	967					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		CAGAAGACGTTCACATTTCTG	0.398			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0			1											69.0	67.0	68.0					1																	114944078		2203	4300	6503	114745601	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2900A>G	1.37:g.114944078T>C	ENSP00000351250:p.Glu967Gly		114745601	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.4|29.4	5.005235|5.005235	0.93287|0.93287	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.33654|.	1.4;1.4;1.4|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Bromodomain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71467|0.71467	0.3343|0.3343	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	T|T	0.72959|0.72959	-0.4133|-0.4133	10|5	0.87932|.	D|.	0|.	-19.1923|-19.1923	16.5602|16.5602	0.84551|0.84551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	599;599;967;967|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	G|D	967;967;599|728	ENSP00000351250:E967G;ENSP00000358556:E967G;ENSP00000412077:E599G|.	ENSP00000351250:E967G|.	E|N	-|-	2|1	0|0	TRIM33|TRIM33	114745601|114745601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.621000|7.621000	0.83083|0.83083	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	GAA|AAC		0.398	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	
ADAM30	11085	hgsc.bcm.edu	37	1	120438430	120438430	+	Missense_Mutation	SNP	T	T	C	rs144018958		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:120438430T>C	ENST00000369400.1	-	1	688	c.530A>G	c.(529-531)gAt>gGt	p.D177G		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	177					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTCTATTTCATCATCACTTAA	0.448													T|||	1	0.000199681	0.0	0.0	5008	,	,		19656	0.001		0.0	False		,,,				2504	0.0																0			1											87.0	85.0	85.0					1																	120438430		2203	4300	6503	120239953	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.530A>G	1.37:g.120438430T>C	ENSP00000358407:p.Asp177Gly		120239953	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	11.03	1.518271	0.27211	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01192	5.2	5.2	1.69	0.24217	.	0.636430	0.13646	N	0.372604	T	0.00412	0.0013	N	0.19112	0.55	0.09310	N	1	P	0.42649	0.786	B	0.41860	0.368	T	0.51212	-0.8734	10	0.72032	D	0.01	.	6.3583	0.21414	0.0:0.2814:0.0:0.7186	.	177	Q9UKF2	ADA30_HUMAN	G	177	ENSP00000358407:D177G	ENSP00000358407:D177G	D	-	2	0	ADAM30	120239953	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.304000	0.19228	0.319000	0.23209	-0.468000	0.05107	GAT		0.448	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
PDE4DIP	9659	hgsc.bcm.edu	37	1	144880809	144880809	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:144880809C>A	ENST00000369354.3	-	26	4008	c.3819G>T	c.(3817-3819)caG>caT	p.Q1273H	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q1409H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q1409H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1273H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1229H|RP4-791M13.5_ENST00000531288.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1273					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCCCAGGTCCTGGAGGTCCA	0.552			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0			1											228.0	196.0	207.0					1																	144880809		2203	4297	6500	143592166	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3819G>T	1.37:g.144880809C>A	ENSP00000358360:p.Gln1273His		143592166	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.858679|4.858679	0.91433|0.91433	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530592|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.03330	.|3.97;4.16;4.12;4.16;4.18	6.07|6.07	4.17|4.17	0.49024|0.49024	.|.	.|.	.|.	.|.	.|.	.|T	.|0.08313	.|0.0207	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.81914	.|0.943;0.995	.|T	.|0.02004	.|-1.1231	.|9	.|0.72032	.|D	.|0.01	.|.	11.7519|11.7519	0.51853|0.51853	0.0:0.8517:0.0:0.1483|0.0:0.8517:0.0:0.1483	.|.	.|1229;1273	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	X|H	167|1229;1273;1273;1409;1409	.|ENSP00000327209:Q1229H;ENSP00000358360:Q1273H;ENSP00000358363:Q1273H;ENSP00000435654:Q1409H;ENSP00000358366:Q1409H	.|ENSP00000327209:Q1229H	G|Q	-|-	1|3	0|2	PDE4DIP|PDE4DIP	143592166|143592166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.903000|1.903000	0.39858|0.39858	1.547000|1.547000	0.49401|0.49401	0.655000|0.655000	0.94253|0.94253	GGA|CAG		0.552	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
RPRD2	23248	hgsc.bcm.edu	37	1	150444062	150444062	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:150444062G>A	ENST00000369068.4	+	11	2642	c.2638G>A	c.(2638-2640)Gcc>Acc	p.A880T	RPRD2_ENST00000539519.1_Missense_Mutation_p.A854T|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.A854T	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	880	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TAGCCACAGAGCCCAAGAATT	0.493																																																	0			1											85.0	83.0	83.0					1																	150444062		1930	4117	6047	148710686	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2638G>A	1.37:g.150444062G>A	ENSP00000358064:p.Ala880Thr		148710686	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	6.918	0.538959	0.13250	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.51325	0.75;0.71;0.75	5.32	3.33	0.38152	.	0.247111	0.35151	N	0.003406	T	0.07548	0.0190	N	0.04508	-0.205	0.23120	N	0.998266	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.0;0.002;0.004	T	0.20405	-1.0276	10	0.23302	T	0.38	-3.2925	4.4286	0.11517	0.1852:0.0:0.5096:0.3052	.	854;880;854	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	T	854;854;880	ENSP00000383785:A854T;ENSP00000445482:A854T;ENSP00000358064:A880T	ENSP00000358064:A880T	A	+	1	0	RPRD2	148710686	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	0.453000	0.21811	1.486000	0.48398	-0.143000	0.13931	GCC		0.493	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203	
TNFAIP8L2	79626	hgsc.bcm.edu	37	1	151131303	151131303	+	Missense_Mutation	SNP	C	C	T	rs374028247		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:151131303C>T	ENST00000368910.3	+	2	256	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	44					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGCTCTACCGTGTGTCCAA	0.562																																																	0			1											67.0	64.0	65.0					1																	151131303		2203	4300	6503	149397927	SO:0001583	missense	79626			BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.130C>T	1.37:g.151131303C>T	ENSP00000357906:p.Arg44Cys		149397927	Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	ENST00000368910.3	37	CCDS985.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943118	0.73672	.	.	ENSG00000163154	ENST00000368910	T	0.37411	1.2	5.67	4.68	0.58851	.	0.051900	0.64402	D	0.000001	T	0.52964	0.1767	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.57493	-0.7802	10	0.87932	D	0	-10.9942	14.6121	0.68522	0.2179:0.7821:0.0:0.0	.	44	Q6P589	TP8L2_HUMAN	C	44	ENSP00000357906:R44C	ENSP00000357906:R44C	R	+	1	0	TNFAIP8L2	149397927	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.430000	0.44766	2.673000	0.90976	0.655000	0.94253	CGT		0.562	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	NM_024575	
CELF3	11189	hgsc.bcm.edu	37	1	151678795	151678795	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:151678795G>A	ENST00000290583.4	-	10	1824	c.1031C>T	c.(1030-1032)cCg>cTg	p.P344L	CELF3_ENST00000290585.4_Missense_Mutation_p.P294L|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Missense_Mutation_p.P139L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	344					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGGAGGCTGCGGGAACGCAGG	0.642																																																	0			1											36.0	40.0	38.0					1																	151678795		2164	4244	6408	149945419	SO:0001583	missense	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1031C>T	1.37:g.151678795G>A	ENSP00000290583:p.Pro344Leu		149945419	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.57|18.57	3.653396|3.653396	0.67472|0.67472	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706|ENST00000420342	T;T;T|.	0.31247|.	2.26;2.2;1.5|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.062472|.	0.64402|.	D|.	0.000004|.	T|T	0.47303|0.47303	0.1438|0.1438	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.33748|.	0.206;0.035;0.423;0.021;0.021|.	B;B;B;B;B|.	0.33690|.	0.041;0.006;0.168;0.002;0.006|.	T|T	0.40079|0.40079	-0.9582|-0.9582	10|5	0.49607|.	T|.	0.09|.	-16.4417|-16.4417	15.4996|15.4996	0.75687|0.75687	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	139;294;343;344;343|.	B4DQL3;Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3|.	.;.;.;CELF3_HUMAN;.|.	L|C	294;344;139|345	ENSP00000290585:P294L;ENSP00000290583:P344L;ENSP00000376470:P139L|.	ENSP00000290583:P344L|.	P|R	-|-	2|1	0|0	CELF3|CELF3	149945419|149945419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	2.691000|2.691000	0.47010|0.47010	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.642	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185	
CHRNB2	1141	hgsc.bcm.edu	37	1	154544280	154544280	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:154544280C>T	ENST00000368476.3	+	5	1245	c.981C>T	c.(979-981)acC>acT	p.T327T		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	327					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GCTCGCCCACCACGCACACCA	0.637																																																	0			1											83.0	61.0	68.0					1																	154544280		2203	4300	6503	152810904	SO:0001819	synonymous_variant	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.981C>T	1.37:g.154544280C>T			152810904	Q9UEH9	Silent	SNP	ENST00000368476.3	37	CCDS1070.1																																																																																				0.637	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748	
KCNN3	3782	hgsc.bcm.edu	37	1	154680615	154680615	+	Missense_Mutation	SNP	G	G	A	rs371429880		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:154680615G>A	ENST00000271915.4	-	8	2348	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000358505.2_Missense_Mutation_p.A365V|KCNN3_ENST00000361147.4_Missense_Mutation_p.A373V	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	683					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	CAGGGTGTCGGCGATGAGCAG	0.637																																																	0			1						G	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	72.0	81.0	78.0		1118,2033,2078	5.1	1.0	1		78	0,8598		0,0,4299	no	missense,missense,missense	KCNN3	NM_170782.2,NM_002249.5,NM_001204087.1	64,64,64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	373/427,678/732,693/747	154680615	1,13003	2203	4299	6502	152947239	SO:0001583	missense	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2033C>T	1.37:g.154680615G>A	ENSP00000271915:p.Ala678Val		152947239	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507618	0.64410	2.27E-4	0.0	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.98585	-5.01;-3.81;-5.01	5.09	5.09	0.68999	.	0.000000	0.56097	D	0.000024	D	0.92652	0.7665	N	0.11255	0.115	0.40864	D	0.983859	B;B	0.27594	0.002;0.182	B;B	0.34180	0.005;0.177	D	0.91601	0.5295	10	0.66056	D	0.02	-20.4554	11.74	0.51788	0.0812:0.0:0.9188:0.0	.	683;373	Q9UGI6;Q9UGI6-2	KCNN3_HUMAN;.	V	373;678;365	ENSP00000354764:A373V;ENSP00000271915:A678V;ENSP00000351295:A365V	ENSP00000271915:A678V	A	-	2	0	KCNN3	152947239	1.000000	0.71417	0.982000	0.44146	0.978000	0.69477	5.172000	0.65003	2.642000	0.89623	0.655000	0.94253	GCC		0.637	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
THBS3	7059	hgsc.bcm.edu	37	1	155171335	155171335	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:155171335C>T	ENST00000368378.3	-	11	1222	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R281H|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	401	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAACCCAGGCGGCAGGGACC	0.637																																																	0			1											41.0	45.0	44.0					1																	155171335		2203	4300	6503	153437959	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1202G>A	1.37:g.155171335C>T	ENSP00000357362:p.Arg401His		153437959	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058286	0.76074	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	D;D;D	0.92397	-3.03;-3.03;-2.25	4.71	4.71	0.59529	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.065257	0.64402	D	0.000013	D	0.86401	0.5924	N	0.17474	0.49	0.37210	D	0.904781	D;D;D;D	0.59357	0.985;0.985;0.985;0.985	P;P;P;P	0.53760	0.734;0.652;0.652;0.652	D	0.87713	0.2568	10	0.45353	T	0.12	-23.3163	13.3465	0.60575	0.0:1.0:0.0:0.0	.	281;401;401;401	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	H	401;281;251	ENSP00000357362:R401H;ENSP00000392207:R281H;ENSP00000404040:R251H	ENSP00000357362:R401H	R	-	2	0	THBS3	153437959	0.993000	0.37304	1.000000	0.80357	0.983000	0.72400	2.633000	0.46519	2.618000	0.88619	0.591000	0.81541	CGC		0.637	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112	
GON4L	54856	hgsc.bcm.edu	37	1	155727042	155727042	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:155727042G>T	ENST00000368331.1	-	26	5374	c.5326C>A	c.(5326-5328)Cac>Aac	p.H1776N	GON4L_ENST00000271883.5_Missense_Mutation_p.H1776N|GON4L_ENST00000437809.1_Missense_Mutation_p.H1776N	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1776	PAH 2. {ECO:0000255|PROSITE- ProRule:PRU00810}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGGCGCAAGTGGTCAAAGAAG	0.512																																																	0			1											74.0	77.0	76.0					1																	155727042		1998	4161	6159	153993666	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5326C>A	1.37:g.155727042G>T	ENSP00000357315:p.His1776Asn		153993666	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.034818	0.75617	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10099	2.91;2.91;2.91	5.39	5.39	0.77823	.	0.085080	0.50627	D	0.000118	T	0.09113	0.0225	N	0.03608	-0.345	0.40720	D	0.982652	D;D;D	0.71674	0.993;0.997;0.998	D;D;D	0.78314	0.968;0.98;0.991	T	0.53641	-0.8410	10	0.41790	T	0.15	.	18.7775	0.91916	0.0:0.0:1.0:0.0	.	972;1776;1776	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	N	1776	ENSP00000396117:H1776N;ENSP00000357315:H1776N;ENSP00000271883:H1776N	ENSP00000271883:H1776N	H	-	1	0	GON4L	153993666	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	6.780000	0.75063	2.531000	0.85337	0.484000	0.47621	CAC		0.512	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
IQGAP3	128239	hgsc.bcm.edu	37	1	156503578	156503578	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:156503578G>A	ENST00000361170.2	-	31	3973	c.3963C>T	c.(3961-3963)atC>atT	p.I1321I		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1321					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAAGGTCAGGGATGGTGGGCA	0.632																																																	0			1											60.0	47.0	52.0					1																	156503578		2203	4300	6503	154770202	SO:0001819	synonymous_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3963C>T	1.37:g.156503578G>A			154770202	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																				0.632	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
NTRK1	4914	hgsc.bcm.edu	37	1	156843698	156843698	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:156843698T>C	ENST00000524377.1	+	8	1165	c.1124T>C	c.(1123-1125)aTg>aCg	p.M375T	NTRK1_ENST00000368196.3_Missense_Mutation_p.M375T|NTRK1_ENST00000358660.3_Missense_Mutation_p.M375T|NTRK1_ENST00000392302.2_Missense_Mutation_p.M345T	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	375					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GCCTCCATCATGGCTGCCTTC	0.657			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																														Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	0			1											57.0	38.0	44.0					1																	156843698		2196	4295	6491	155110322	SO:0001583	missense	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1124T>C	1.37:g.156843698T>C	ENSP00000431418:p.Met375Thr		155110322	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	T	4.265	0.048341	0.08243	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.95	3.68	0.42216	Immunoglobulin-like fold (1);	0.464740	0.22245	N	0.062623	T	0.07234	0.0183	L	0.41236	1.265	0.20764	N	0.999852	B;B;B;B	0.21688	0.0;0.022;0.004;0.059	B;B;B;B	0.29663	0.001;0.035;0.007;0.105	T	0.28202	-1.0051	9	.	.	.	.	4.1372	0.10176	0.0:0.2377:0.1687:0.5936	.	375;375;375;345	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	T	345;375;375;375	ENSP00000376120:M345T;ENSP00000357179:M375T;ENSP00000431418:M375T;ENSP00000351486:M375T	.	M	+	2	0	NTRK1	155110322	0.000000	0.05858	0.816000	0.32577	0.362000	0.29581	-0.488000	0.06497	1.090000	0.41315	0.533000	0.62120	ATG		0.657	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
OR10K1	391109	hgsc.bcm.edu	37	1	158435793	158435793	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:158435793G>A	ENST00000289451.2	+	1	522	c.442G>A	c.(442-444)Gcc>Acc	p.A148T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AATGGCTGCTGCCTGTGCCTG	0.547																																																	0			1											194.0	182.0	186.0					1																	158435793		2203	4300	6503	156702417	SO:0001583	missense	391109			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.442G>A	1.37:g.158435793G>A	ENSP00000289451:p.Ala148Thr		156702417	Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.893248	0.52121	.	.	ENSG00000173285	ENST00000289451	T	0.37584	1.19	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000657	T	0.41373	0.1156	L	0.35644	1.08	0.34377	D	0.692703	D	0.89917	1.0	D	0.97110	1.0	T	0.44345	-0.9334	10	0.66056	D	0.02	.	16.1284	0.81410	0.0:0.0:1.0:0.0	.	148	Q8NGX5	O10K1_HUMAN	T	148	ENSP00000289451:A148T	ENSP00000289451:A148T	A	+	1	0	OR10K1	156702417	0.780000	0.28664	0.962000	0.40283	0.212000	0.24457	3.270000	0.51600	2.311000	0.77944	0.557000	0.71058	GCC		0.547	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1		
SPTA1	6708	hgsc.bcm.edu	37	1	158639317	158639317	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:158639317C>T	ENST00000368147.4	-	14	1894	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	572					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CGTCTAGTGGCAGCCTTTTCA	0.453																																																	0			1											153.0	143.0	146.0					1																	158639317		1942	4142	6084	156905941	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1714G>A	1.37:g.158639317C>T	ENSP00000357129:p.Ala572Thr		156905941	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679437	0.29783	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.42131	0.98;0.98	4.72	3.8	0.43715	.	0.266050	0.19957	N	0.102291	T	0.29850	0.0746	L	0.53780	1.695	0.24110	N	0.995842	P	0.51653	0.947	P	0.57720	0.826	T	0.10132	-1.0643	10	0.15499	T	0.54	.	7.5865	0.27995	0.0:0.6977:0.1392:0.1632	.	572	P02549	SPTA1_HUMAN	T	572	ENSP00000357130:A572T;ENSP00000357129:A572T	ENSP00000357129:A572T	A	-	1	0	SPTA1	156905941	0.991000	0.36638	0.812000	0.32479	0.028000	0.11728	2.169000	0.42434	0.727000	0.32360	-0.797000	0.03246	GCC		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
B4GALT3	8703	hgsc.bcm.edu	37	1	161145720	161145720	+	Missense_Mutation	SNP	G	G	A	rs367870203		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:161145720G>A	ENST00000319769.5	-	3	353	c.131C>T	c.(130-132)cCg>cTg	p.P44L	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.P44L	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	44					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GTCAAATGTCGGTCCCTGATC	0.592																																																	0			1											95.0	96.0	96.0					1																	161145720		2203	4300	6503	159412344	SO:0001583	missense	8703			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.131C>T	1.37:g.161145720G>A	ENSP00000320965:p.Pro44Leu		159412344	D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336597	0.81801	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000541560;ENST00000310413;ENST00000367998;ENST00000367997	T;T	0.51071	0.72;0.72	5.37	5.37	0.77165	.	0.059722	0.64402	D	0.000002	T	0.35770	0.0943	L	0.32530	0.975	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.47299	0.462;0.543	T	0.24584	-1.0156	10	0.56958	D	0.05	-18.4129	17.888	0.88863	0.0:0.0:1.0:0.0	.	44;44	B3KPV4;O60512	.;B4GT3_HUMAN	L	44;21;44;44;44;44	ENSP00000320965:P44L;ENSP00000356977:P44L	ENSP00000308551:P44L	P	-	2	0	B4GALT3	159412344	1.000000	0.71417	0.974000	0.42286	0.476000	0.33039	8.884000	0.92432	2.511000	0.84671	0.467000	0.42956	CCG		0.592	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779	
OLFML2B	25903	hgsc.bcm.edu	37	1	161954715	161954715	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:161954715A>G	ENST00000294794.3	-	7	1953	c.1530T>C	c.(1528-1530)taT>taC	p.Y510Y	OLFML2B_ENST00000367940.2_Silent_p.Y511Y|OLFML2B_ENST00000367938.1_5'UTR	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	510	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CATTCCGCCCATATGTGTTCT	0.547																																																	0			1											190.0	168.0	176.0					1																	161954715		2203	4300	6503	160221339	SO:0001819	synonymous_variant	25903			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1530T>C	1.37:g.161954715A>G			160221339	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	CCDS1236.1																																																																																				0.547	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
NUF2	83540	hgsc.bcm.edu	37	1	163310215	163310215	+	Splice_Site	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:163310215T>C	ENST00000271452.3	+	9	947	c.668T>C	c.(667-669)tTg>tCg	p.L223S	NUF2_ENST00000524800.1_Splice_Site_p.L223S|NUF2_ENST00000367900.3_Splice_Site_p.L223S	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	223	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ACCAAGCGTTTGGTAAACATC	0.333																																																	0			1											99.0	107.0	104.0					1																	163310215		2203	4300	6503	161576839	SO:0001630	splice_region_variant	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.669+1T>C	1.37:g.163310215T>C			161576839	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.156354	0.38119	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.37058	1.22;1.24;1.24	5.07	5.07	0.68467	.	0.073983	0.56097	D	0.000028	T	0.37732	0.1014	L	0.55481	1.735	0.47778	D	0.999514	D;D	0.76494	0.999;0.999	P;P	0.59643	0.861;0.861	T	0.40534	-0.9558	9	0.54805	T	0.06	-2.1981	11.141	0.48402	0.0:0.0:0.0:1.0	.	223;223	E9PQC4;Q9BZD4	.;NUF2_HUMAN	S	223	ENSP00000436888:L223S;ENSP00000356875:L223S;ENSP00000271452:L223S	ENSP00000271452:L223S	L	+	2	0	NUF2	161576839	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	4.005000	0.57075	2.124000	0.65301	0.533000	0.62120	TTG		0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	Missense_Mutation
GPR161	23432	hgsc.bcm.edu	37	1	168065765	168065765	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:168065765G>A	ENST00000367838.1	-	5	1393	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	GPR161_ENST00000539777.1_Silent_p.S282S|GPR161_ENST00000546300.1_Silent_p.S246S|GPR161_ENST00000367835.1_Silent_p.S360S|GPR161_ENST00000271357.5_Silent_p.S360S|GPR161_ENST00000361697.2_Silent_p.S360S|GPR161_ENST00000367836.1_Silent_p.S228S|GPR161_ENST00000537209.1_Silent_p.S380S	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	360					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TGTTGGAAATGCTGAAGAGCC	0.517																																																	0			1											78.0	77.0	77.0					1																	168065765		2203	4300	6503	166332389	SO:0001819	synonymous_variant	23432			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1080C>T	1.37:g.168065765G>A			166332389	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	CCDS1268.1																																																																																				0.517	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
GPR161	23432	hgsc.bcm.edu	37	1	168065808	168065808	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:168065808C>T	ENST00000367838.1	-	5	1350	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	GPR161_ENST00000539777.1_Missense_Mutation_p.R268Q|GPR161_ENST00000546300.1_Missense_Mutation_p.R232Q|GPR161_ENST00000367835.1_Missense_Mutation_p.R346Q|GPR161_ENST00000271357.5_Missense_Mutation_p.R346Q|GPR161_ENST00000361697.2_Missense_Mutation_p.R346Q|GPR161_ENST00000367836.1_Missense_Mutation_p.R214Q|GPR161_ENST00000537209.1_Missense_Mutation_p.R366Q	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	346					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AAATGGTTCCCGATAATACCG	0.527																																																	0			1											88.0	86.0	86.0					1																	168065808		2203	4300	6503	166332432	SO:0001583	missense	23432			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1037G>A	1.37:g.168065808C>T	ENSP00000356812:p.Arg346Gln		166332432	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499326	0.85069	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.61	4.7	0.59300	.	0.053503	0.64402	D	0.000001	T	0.47600	0.1454	M	0.63843	1.955	0.40801	D	0.983346	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.999;0.921	D;D;D;D;P;B	0.83275	0.979;0.992;0.996;0.944;0.889;0.211	T	0.56836	-0.7913	9	0.87932	D	0	-24.6889	14.2282	0.65873	0.0:0.9275:0.0:0.0725	.	366;232;268;366;346;346	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	Q	346;346;214;346;232;268;366;346	ENSP00000356812:R346Q;ENSP00000271357:R346Q;ENSP00000356810:R214Q;ENSP00000356809:R346Q;ENSP00000444348:R232Q;ENSP00000437576:R268Q;ENSP00000441039:R366Q;ENSP00000355194:R346Q	ENSP00000271357:R346Q	R	-	2	0	GPR161	166332432	1.000000	0.71417	0.999000	0.59377	0.527000	0.34593	7.637000	0.83313	1.500000	0.48636	0.655000	0.94253	CGG		0.527	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
SELL	6402	hgsc.bcm.edu	37	1	169672532	169672532	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:169672532A>G	ENST00000236147.4	-	6	1015	c.855T>C	c.(853-855)tgT>tgC	p.C285C	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	272	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GGGGATGGCTACAGTTCATGA	0.398																																																	0			1											48.0	45.0	46.0					1																	169672532		1913	4144	6057	167939156	SO:0001819	synonymous_variant	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.855T>C	1.37:g.169672532A>G			167939156	B2R6Q8|P15023|Q9UJ43	Silent	SNP	ENST00000236147.4	37	CCDS53427.1																																																																																				0.398	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655	
MYOC	4653	hgsc.bcm.edu	37	1	171621330	171621330	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:171621330G>A	ENST00000037502.6	-	1	493	c.422C>T	c.(421-423)gCc>gTc	p.A141V		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	141					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTTGCTGTAGGCAGTCTCCAA	0.597																																																	0			1											109.0	118.0	115.0					1																	171621330		2203	4300	6503	169887953	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.422C>T	1.37:g.171621330G>A	ENSP00000037502:p.Ala141Val		169887953	B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	9.519	1.107729	0.20714	.	.	ENSG00000034971	ENST00000037502;ENST00000536591;ENST00000537133	D	0.83163	-1.69	5.55	2.25	0.28309	.	0.264920	0.42682	D	0.000663	T	0.64283	0.2584	M	0.64997	1.995	0.27215	N	0.95981	B;B	0.14805	0.004;0.011	B;B	0.15484	0.007;0.013	T	0.61053	-0.7140	10	0.52906	T	0.07	.	7.351	0.26691	0.0867:0.0:0.6057:0.3075	.	83;141	B4DV44;Q99972	.;MYOC_HUMAN	V	141;74;141	ENSP00000037502:A141V	ENSP00000037502:A141V	A	-	2	0	MYOC	169887953	0.989000	0.36119	0.588000	0.28705	0.443000	0.32047	1.393000	0.34497	0.673000	0.31224	0.655000	0.94253	GCC		0.597	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261	
CEP350	9857	hgsc.bcm.edu	37	1	180010311	180010311	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:180010311G>A	ENST00000367607.3	+	18	4567	c.4149G>A	c.(4147-4149)ttG>ttA	p.L1383L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1383					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGGCCCTCTTGAAACTAAAGG	0.398																																																	0			1											38.0	36.0	37.0					1																	180010311		2203	4300	6503	178276934	SO:0001819	synonymous_variant	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4149G>A	1.37:g.180010311G>A			178276934	O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	CCDS1336.1																																																																																				0.398	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
BRINP3	339479	hgsc.bcm.edu	37	1	190250770	190250770	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:190250770C>T	ENST00000367462.3	-	3	578	c.347G>A	c.(346-348)cGt>cAt	p.R116H	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	116	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GGTAGGTCGACGTCCCAAAAG	0.448																																																	0			1											94.0	89.0	91.0					1																	190250770		2203	4300	6503	188517393	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.347G>A	1.37:g.190250770C>T	ENSP00000356432:p.Arg116His		188517393	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299071	0.95574	.	.	ENSG00000162670	ENST00000367462	D	0.84298	-1.83	5.67	5.67	0.87782	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.91835	0.7416	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92329	0.5872	10	0.87932	D	0	.	17.2529	0.87047	0.0:1.0:0.0:0.0	.	116	Q76B58	FAM5C_HUMAN	H	116	ENSP00000356432:R116H	ENSP00000356432:R116H	R	-	2	0	FAM5C	188517393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.677000	0.91161	0.585000	0.79938	CGT		0.448	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
CDC73	79577	hgsc.bcm.edu	37	1	193094275	193094275	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:193094275C>T	ENST00000367435.3	+	2	349	c.165C>T	c.(163-165)taC>taT	p.Y55Y		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	55					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.Y55fs*1(2)|p.Y55*(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GAGAGTACTACACATTGGATT	0.358																																																	3	Deletion - Frameshift(2)|Substitution - Nonsense(1)	parathyroid(3)	1	GRCh37	CM023088	CDC73	M							147.0	147.0	147.0					1																	193094275		2203	4300	6503	191360898	SO:0001819	synonymous_variant	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.165C>T	1.37:g.193094275C>T			191360898	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Silent	SNP	ENST00000367435.3	37	CCDS1382.1																																																																																				0.358	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	
CFH	3075	hgsc.bcm.edu	37	1	196696040	196696040	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:196696040G>A	ENST00000367429.4	+	14	2446	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	736	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTGTATTCATGGAGTATGGAC	0.353																																																	0			1											102.0	101.0	101.0					1																	196696040		2203	4299	6502	194962663	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2206G>A	1.37:g.196696040G>A	ENSP00000356399:p.Gly736Arg		194962663	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791785	0.50102	.	.	ENSG00000000971	ENST00000367429	T	0.72615	-0.67	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.86715	0.5999	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89020	0.3434	9	0.87932	D	0	.	15.1081	0.72336	0.0:0.0:1.0:0.0	.	736	P08603	CFAH_HUMAN	R	736	ENSP00000356399:G736R	ENSP00000356399:G736R	G	+	1	0	CFH	194962663	0.997000	0.39634	0.649000	0.29536	0.007000	0.05969	3.304000	0.51866	2.637000	0.89404	0.655000	0.94253	GGA		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
LHX9	56956	hgsc.bcm.edu	37	1	197887102	197887102	+	Missense_Mutation	SNP	G	G	A	rs577856015		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:197887102G>A	ENST00000367387.4	+	1	574	c.149G>A	c.(148-150)gGc>gAc	p.G50D	LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000337020.2_Missense_Mutation_p.G50D|LHX9_ENST00000367390.3_Missense_Mutation_p.G41D|LHX9_ENST00000561173.1_Missense_Mutation_p.G56D|LHX9_ENST00000367391.1_Missense_Mutation_p.G41D	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	50					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTGGCCAAAGGCGCCCAGCTC	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13943	0.0		0.0	False		,,,				2504	0.0																0			1											61.0	65.0	63.0					1																	197887102		2203	4300	6503	196153725	SO:0001583	missense	56956			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.149G>A	1.37:g.197887102G>A	ENSP00000356357:p.Gly50Asp		196153725	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432614	0.62844	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000367388;ENST00000337020;ENST00000367387	T;D;T;D	0.87729	0.67;-2.29;0.59;-2.29	5.06	5.06	0.68205	.	0.107874	0.64402	D	0.000005	D	0.85915	0.5808	L	0.36672	1.1	0.50313	D	0.999868	B;B;B	0.25486	0.078;0.068;0.127	B;B;B	0.37650	0.066;0.139;0.255	D	0.83707	0.0185	10	0.49607	T	0.09	.	17.7666	0.88480	0.0:0.0:1.0:0.0	.	50;41;41	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	D	41;41;93;50;50	ENSP00000356361:G41D;ENSP00000356360:G41D;ENSP00000337969:G50D;ENSP00000356357:G50D	ENSP00000337969:G50D	G	+	2	0	LHX9	196153725	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.764000	0.68826	2.506000	0.84524	0.655000	0.94253	GGC		0.672	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	
ZNF281	23528	hgsc.bcm.edu	37	1	200376876	200376876	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:200376876C>T	ENST00000294740.3	-	2	2082	c.1958G>A	c.(1957-1959)gGc>gAc	p.G653D	ZNF281_ENST00000367352.3_Missense_Mutation_p.G617D|ZNF281_ENST00000367353.1_Missense_Mutation_p.G653D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	653					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGTTTGGGTGCCTGGGCTCAA	0.398																																																	0			1											120.0	125.0	124.0					1																	200376876		2203	4300	6503	198643499	SO:0001583	missense	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1958G>A	1.37:g.200376876C>T	ENSP00000294740:p.Gly653Asp		198643499	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731499	0.15507	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.39997	1.05;1.05;1.05	5.54	5.54	0.83059	.	0.140571	0.43579	D	0.000546	T	0.27349	0.0671	N	0.19112	0.55	0.32074	N	0.594093	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.19976	-1.0289	10	0.39692	T	0.17	-14.3522	9.7279	0.40344	0.0:0.8409:0.0:0.1591	.	617;653	A6NF48;Q9Y2X9	.;ZN281_HUMAN	D	653;653;617;358	ENSP00000294740:G653D;ENSP00000356322:G653D;ENSP00000356321:G617D	ENSP00000294740:G653D	G	-	2	0	ZNF281	198643499	0.985000	0.35326	1.000000	0.80357	1.000000	0.99986	1.411000	0.34702	2.597000	0.87782	0.655000	0.94253	GGC		0.398	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482	
DDX59	83479	hgsc.bcm.edu	37	1	200633156	200633156	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:200633156T>C	ENST00000331314.6	-	3	1076	c.863A>G	c.(862-864)gAg>gGg	p.E288G	DDX59_ENST00000367348.3_Missense_Mutation_p.E288G|DDX59_ENST00000447706.2_Missense_Mutation_p.E288G	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	288	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AGCTTGTCTCTCTATCTGAAT	0.438																																																	0			1											143.0	126.0	132.0					1																	200633156		2203	4300	6503	198899779	SO:0001583	missense	83479			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.863A>G	1.37:g.200633156T>C	ENSP00000330460:p.Glu288Gly		198899779	Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	T	31	5.076176	0.94000	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.14893	2.47;2.47;2.47	5.75	5.75	0.90469	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	L	0.42581	1.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05468	-1.0883	10	0.72032	D	0.01	-37.1631	16.0519	0.80769	0.0:0.0:0.0:1.0	.	288;288	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	G	288	ENSP00000394367:E288G;ENSP00000356317:E288G;ENSP00000330460:E288G	ENSP00000330460:E288G	E	-	2	0	DDX59	198899779	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.752000	0.85141	2.196000	0.70406	0.533000	0.62120	GAG		0.438	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4	
CACNA1S	779	hgsc.bcm.edu	37	1	201046242	201046242	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:201046242G>A	ENST00000362061.3	-	12	1859	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	CACNA1S_ENST00000367338.3_Silent_p.L545L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	545					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGTTGCTCAGCGACGTCCAA	0.597																																																	0			1											84.0	78.0	80.0					1																	201046242		2203	4300	6503	199312865	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1633C>T	1.37:g.201046242G>A			199312865	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.597	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
LAX1	54900	hgsc.bcm.edu	37	1	203743525	203743525	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:203743525A>G	ENST00000442561.2	+	5	1303	c.913A>G	c.(913-915)Agc>Ggc	p.S305G	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.S289G	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	305					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)	p.S305C(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCCAGTGGAAGCCAGCAGCA	0.522																																																	1	Substitution - Missense(1)	central_nervous_system(1)	1											83.0	78.0	79.0					1																	203743525		2203	4300	6503	202010148	SO:0001583	missense	54900			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.913A>G	1.37:g.203743525A>G	ENSP00000406970:p.Ser305Gly		202010148	B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	A	10.69	1.420687	0.25639	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	4.79	3.63	0.41609	.	1.221100	0.05327	N	0.527691	T	0.35422	0.0931	L	0.34521	1.04	0.09310	N	1	B;B	0.25809	0.073;0.135	B;B	0.27887	0.084;0.045	T	0.29971	-0.9994	9	0.40728	T	0.16	-3.6849	7.6659	0.28430	0.812:0.0:0.0:0.188	.	289;305	B7Z744;Q8IWV1	.;LAX1_HUMAN	G	305;289	.	ENSP00000356186:S289G	S	+	1	0	LAX1	202010148	0.001000	0.12720	0.017000	0.16124	0.286000	0.27126	1.104000	0.31074	0.920000	0.36970	0.533000	0.62120	AGC		0.522	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773	
FCAMR	83953	hgsc.bcm.edu	37	1	207134158	207134158	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:207134158G>A	ENST00000324852.4	-	6	1537	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_Intron|FCAMR_ENST00000450945.2_Intron	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	310					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCCTCCCTTGGCCTATCAGCC	0.542																																					Ovarian(199;1883 2142 16966 44409 45154)												0			1											224.0	188.0	199.0					1																	207134158		692	1591	2283	205200781	SO:0001583	missense	83953			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1063C>T	1.37:g.207134158G>A	ENSP00000316491:p.Pro355Ser		205200781	Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786976	0.49997	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.05649	3.41	5.09	2.12	0.27331	.	0.659026	0.14179	N	0.336145	T	0.08223	0.0205	L	0.48642	1.525	0.09310	N	1	P;P	0.49185	0.92;0.689	P;B	0.46685	0.524;0.286	T	0.22765	-1.0207	10	0.62326	D	0.03	-1.6253	5.6627	0.17678	0.1875:0.1667:0.6458:0.0	.	330;310	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	S	355;331	ENSP00000316491:P355S	ENSP00000316491:P355S	P	-	1	0	FCAMR	205200781	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.640000	0.24705	0.637000	0.30526	0.561000	0.74099	CCA		0.542	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029	
PLXNA2	5362	hgsc.bcm.edu	37	1	208218009	208218009	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:208218009C>T	ENST00000367033.3	-	20	4475	c.3718G>A	c.(3718-3720)Gtc>Atc	p.V1240I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1240					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCGATGCTGACGATGGCTGGC	0.572																																																	0			1											72.0	67.0	69.0					1																	208218009		2203	4300	6503	206284632	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3718G>A	1.37:g.208218009C>T	ENSP00000356000:p.Val1240Ile		206284632	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563759	0.27915	.	.	ENSG00000076356	ENST00000367033	T	0.00808	5.67	4.95	0.849	0.18972	.	0.180161	0.47852	N	0.000203	T	0.00524	0.0017	N	0.04297	-0.235	0.49483	D	0.999793	B	0.26081	0.141	B	0.16722	0.016	T	0.62407	-0.6861	10	0.13470	T	0.59	.	9.5171	0.39113	0.0:0.7006:0.0:0.2994	.	1240	O75051	PLXA2_HUMAN	I	1240	ENSP00000356000:V1240I	ENSP00000356000:V1240I	V	-	1	0	PLXNA2	206284632	0.990000	0.36364	0.998000	0.56505	0.988000	0.76386	2.372000	0.44257	0.132000	0.18615	0.467000	0.42956	GTC		0.572	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
LAMB3	3914	hgsc.bcm.edu	37	1	209806041	209806041	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:209806041C>T	ENST00000356082.4	-	8	843	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	LAMB3_ENST00000391911.1_Missense_Mutation_p.A237T|LAMB3_ENST00000367030.3_Missense_Mutation_p.A237T	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	237	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCATAGTAGGCGCTGGGAGGG	0.627																																																	0			1											45.0	50.0	48.0					1																	209806041		2203	4300	6503	207872664	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.709G>A	1.37:g.209806041C>T	ENSP00000348384:p.Ala237Thr		207872664	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	1.441	-0.567546	0.03910	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.37058	1.22;1.22;1.22	4.76	2.81	0.32909	Laminin, N-terminal (2);	0.732438	0.13398	N	0.390865	T	0.21468	0.0517	L	0.38175	1.15	0.22562	N	0.998985	B;B	0.19583	0.013;0.037	B;B	0.15484	0.013;0.012	T	0.31530	-0.9940	10	0.07813	T	0.8	.	4.3522	0.11160	0.1649:0.5875:0.0:0.2476	.	237;237	B4DL55;Q13751	.;LAMB3_HUMAN	T	237	ENSP00000375778:A237T;ENSP00000348384:A237T;ENSP00000355997:A237T	ENSP00000348384:A237T	A	-	1	0	LAMB3	207872664	0.963000	0.33076	0.982000	0.44146	0.721000	0.41392	1.531000	0.36018	0.572000	0.29383	0.456000	0.33151	GCC		0.627	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
TMEM206	55248	hgsc.bcm.edu	37	1	212550912	212550912	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:212550912G>A	ENST00000261455.4	-	6	912	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	TMEM206_ENST00000535273.1_Missense_Mutation_p.R320W	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	259						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		ACCTCCTGCCGGAACTCCACT	0.552																																																	0			1											135.0	125.0	128.0					1																	212550912		2203	4300	6503	210617535	SO:0001583	missense	55248			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.775C>T	1.37:g.212550912G>A	ENSP00000261455:p.Arg259Trp		210617535	B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004348	0.74932	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.83	4.9	0.64082	.	0.050661	0.85682	D	0.000000	T	0.66327	0.2778	L	0.32530	0.975	0.50171	D	0.99985	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.95	T	0.69921	-0.5014	9	0.87932	D	0	-20.036	13.8221	0.63329	0.0:0.0:0.6055:0.3945	.	320;259	B7Z4D6;Q9H813	.;TM206_HUMAN	W	259;320	.	ENSP00000261455:R259W	R	-	1	2	TMEM206	210617535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.719000	0.54926	1.425000	0.47237	0.655000	0.94253	CGG		0.552	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252	
FAM71A	149647	hgsc.bcm.edu	37	1	212799707	212799707	+	Silent	SNP	G	G	A	rs376011969		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:212799707G>A	ENST00000294829.3	+	1	1919	c.1488G>A	c.(1486-1488)acG>acA	p.T496T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	496						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCAGCCACACGCCCATCTCAA	0.557																																																	0			1						G		0,4406		0,0,2203	85.0	77.0	80.0		1488	-8.5	0.0	1		80	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FAM71A	NM_153606.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		496/595	212799707	2,13004	2203	4300	6503	210866330	SO:0001819	synonymous_variant	149647				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1488G>A	1.37:g.212799707G>A			210866330	Q5VTZ1	Silent	SNP	ENST00000294829.3	37	CCDS1507.1																																																																																				0.557	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606	
HHIPL2	79802	hgsc.bcm.edu	37	1	222717148	222717148	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:222717148G>A	ENST00000343410.6	-	2	763	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	235					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTACCTGCTCGGCAACAAAGA	0.622																																																	0			1											72.0	65.0	68.0					1																	222717148		2203	4300	6503	220783771	SO:0001819	synonymous_variant	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.705C>T	1.37:g.222717148G>A			220783771	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	CCDS1530.2																																																																																				0.622	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
WDR26	80232	hgsc.bcm.edu	37	1	224612245	224612245	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:224612245T>C	ENST00000414423.2	-	4	932	c.739A>G	c.(739-741)Aca>Gca	p.T247A	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.T100A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	247						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATGCGCTCTGTATTGTATTTC	0.423																																																	0			1											111.0	99.0	103.0					1																	224612245		2203	4300	6503	222678868	SO:0001583	missense	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.739A>G	1.37:g.224612245T>C	ENSP00000408108:p.Thr247Ala		222678868	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733008	0.89482	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000445239	T;T	0.69561	-0.41;-0.09	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.79805	2.47	0.80722	D	1	P;P	0.46220	0.874;0.724	P;B	0.45343	0.477;0.284	T	0.70382	-0.4887	10	0.12430	T	0.62	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	247;231	Q9H7D7;Q9H7D7-2	WDR26_HUMAN;.	A	247;100;100	ENSP00000408108:T247A;ENSP00000295024:T100A	ENSP00000295024:T100A	T	-	1	0	WDR26	222678868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.271000	0.75665	0.533000	0.62120	ACA		0.423	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160	
PARP1	142	hgsc.bcm.edu	37	1	226578195	226578195	+	Missense_Mutation	SNP	G	G	A	rs202057244		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:226578195G>A	ENST00000366794.5	-	4	676	c.533C>T	c.(532-534)gCg>gTg	p.A178V		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	178					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GAGCTGACTCGCACTGTACTC	0.577								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					G|||	1	0.000199681	0.0	0.0014	5008	,	,		18332	0.0		0.0	False		,,,				2504	0.0																0			1											69.0	66.0	67.0					1																	226578195		2203	4300	6503	224644818	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.533C>T	1.37:g.226578195G>A	ENSP00000355759:p.Ala178Val		224644818	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959772	0.74016	.	.	ENSG00000143799	ENST00000432338;ENST00000366794	T	0.28255	1.62	5.13	4.22	0.49857	Zinc finger, PARP-type (3);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	N	0.24115	0.695	0.80722	D	1	P	0.47191	0.891	P	0.47376	0.545	T	0.02877	-1.1099	10	0.39692	T	0.17	.	13.9012	0.63804	0.0738:0.0:0.9262:0.0	.	178	P09874	PARP1_HUMAN	V	178	ENSP00000355759:A178V	ENSP00000355759:A178V	A	-	2	0	PARP1	224644818	1.000000	0.71417	0.469000	0.27204	0.613000	0.37349	5.699000	0.68310	1.277000	0.44412	0.655000	0.94253	GCG		0.577	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	
JMJD4	65094	hgsc.bcm.edu	37	1	227920209	227920209	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:227920209C>T	ENST00000366758.3	-	6	1275	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	SNAP47_ENST00000315781.5_5'Flank|SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.A410T	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	426										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				ACCAAGGAGGCCAGCACCTCT	0.617																																																	0			1											98.0	80.0	86.0					1																	227920209		2203	4300	6503	225986832	SO:0001583	missense	65094			AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1276G>A	1.37:g.227920209C>T	ENSP00000355720:p.Ala426Thr		225986832	Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.571|8.571	0.880005|0.880005	0.17467|0.17467	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.18016|.	2.24|.	4.75|4.75	2.89|2.89	0.33648|0.33648	.|.	0.245573|.	0.40469|.	N|.	0.001085|.	T|.	0.36524|.	0.0970|.	L|L	0.48362|0.48362	1.52|1.52	0.24619|0.24619	N|N	0.993682|0.993682	B;B|.	0.17038|.	0.02;0.011|.	B;B|.	0.17098|.	0.017;0.008|.	T|.	0.26189|.	-1.0110|.	10|.	0.14656|.	T|.	0.56|.	-11.8711|-11.8711	4.1738|4.1738	0.10343|0.10343	0.1823:0.6261:0.0:0.1915|0.1823:0.6261:0.0:0.1915	.|.	410;426|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	T|X	426|402	ENSP00000355720:A426T|.	ENSP00000355720:A426T|.	A|W	-|-	1|3	0|0	JMJD4|JMJD4	225986832|225986832	0.959000|0.959000	0.32827|0.32827	0.790000|0.790000	0.31976|0.31976	0.198000|0.198000	0.23893|0.23893	1.835000|1.835000	0.39181|0.39181	0.620000|0.620000	0.30215|0.30215	0.462000|0.462000	0.41574|0.41574	GCC|TGG		0.617	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007	
OBSCN	84033	hgsc.bcm.edu	37	1	228494622	228494622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:228494622C>T	ENST00000422127.1	+	45	11991	c.11947C>T	c.(11947-11949)Cga>Tga	p.R3983*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R3983*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R4940*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R1617*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R1102*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3983	Ig-like 41.		R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGGTTCCTCCGAGAGCTGCA	0.652																																																	0			1											11.0	13.0	13.0					1																	228494622		2076	4198	6274	226561245	SO:0001587	stop_gained	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11947C>T	1.37:g.228494622C>T	ENSP00000409493:p.Arg3983*		226561245	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	62	71.054468	0.99992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.	.	.	5.75	2.5	0.30297	.	0.744078	0.12001	N	0.508834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	9.7265	0.40335	0.611:0.2855:0.1035:0.0	.	.	.	.	X	3983;3983;1617;1102	.	ENSP00000284548:R3983X	R	+	1	2	OBSCN	226561245	0.000000	0.05858	0.034000	0.17996	0.011000	0.07611	-1.013000	0.03645	0.730000	0.32425	0.462000	0.41574	CGA		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	hgsc.bcm.edu	37	1	228528808	228528808	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:228528808G>A	ENST00000422127.1	+	73	17754	c.17710G>A	c.(17710-17712)Gtg>Atg	p.V5904M	OBSCN_ENST00000284548.11_Missense_Mutation_p.V5904M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V6861M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V3538M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V3023M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5904	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACTTCATCGTGTGGGAGGG	0.677																																																	0			1											17.0	20.0	19.0					1																	228528808		2023	4167	6190	226595431	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17710G>A	1.37:g.228528808G>A	ENSP00000409493:p.Val5904Met		226595431	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.194017|4.194017	0.78902|0.78902	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.|T;T;T;T	.|0.21191	.|2.02;2.02;2.02;2.02	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.53883|0.53883	0.1824|0.1824	M|M	0.85462|0.85462	2.755|2.755	0.53005|0.53005	D|D	0.99996|0.99996	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76575	.|0.974;0.988	T|T	0.59726|0.59726	-0.7400|-0.7400	5|10	.|0.87932	.|D	.|0	.|.	19.5555|19.5555	0.95345|0.95345	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5904;5904	.|Q5VST9;Q5VST9-3	.|OBSCN_HUMAN;.	H|M	520|5904;5904;3538;3023	.|ENSP00000284548:V5904M;ENSP00000409493:V5904M;ENSP00000355668:V3538M;ENSP00000355670:V3023M	.|ENSP00000284548:V5904M	R|V	+|+	2|1	0|0	OBSCN|OBSCN	226595431|226595431	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.383000|0.383000	0.30230|0.30230	9.799000|9.799000	0.99117|0.99117	2.638000|2.638000	0.89438|0.89438	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
EXOC8	149371	hgsc.bcm.edu	37	1	231472265	231472265	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:231472265C>A	ENST00000360394.2	-	1	1313	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.K405N|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	409					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGCGAGTAGCCTTCGGACCAC	0.537																																																	0			1											60.0	59.0	59.0					1																	231472265		2203	4300	6503	229538888	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1227G>T	1.37:g.231472265C>A	ENSP00000353564:p.Lys409Asn		229538888	B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181346	0.38511	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.78126	-1.15;-1.15	5.86	1.88	0.25563	Cullin repeat-like-containing domain (1);	0.056198	0.64402	D	0.000002	T	0.61515	0.2353	L	0.39397	1.21	0.58432	D	0.999999	B	0.30482	0.281	B	0.26969	0.075	T	0.45175	-0.9279	10	0.18710	T	0.47	-23.0336	5.6787	0.17763	0.0:0.5348:0.1263:0.3389	.	409	Q8IYI6	EXOC8_HUMAN	N	409;405	ENSP00000353564:K409N;ENSP00000355605:K405N	ENSP00000353564:K409N	K	-	3	2	EXOC8	229538888	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	1.282000	0.33226	0.093000	0.17368	0.655000	0.94253	AAG		0.537	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876	
SIPA1L2	57568	hgsc.bcm.edu	37	1	232600867	232600867	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:232600867C>T	ENST00000366630.1	-	8	2897	c.2539G>A	c.(2539-2541)Gcc>Acc	p.A847T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A847T|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	847					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AACAAGTGGGCATCCTTCCTT	0.512																																																	0			1											131.0	126.0	128.0					1																	232600867		1993	4174	6167	230667490	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2539G>A	1.37:g.232600867C>T	ENSP00000355589:p.Ala847Thr		230667490	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809170	0.90707	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.57595	0.39;0.39	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.62266	1.93	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.70339	-0.4899	10	0.56958	D	0.05	-32.8437	20.3658	0.98878	0.0:1.0:0.0:0.0	.	847	Q9P2F8	SI1L2_HUMAN	T	847	ENSP00000355589:A847T;ENSP00000262861:A847T	ENSP00000262861:A847T	A	-	1	0	SIPA1L2	230667490	1.000000	0.71417	0.919000	0.36401	0.674000	0.39518	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	GCC		0.512	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
NID1	4811	hgsc.bcm.edu	37	1	236157153	236157153	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:236157153G>A	ENST00000264187.6	-	13	2629	c.2547C>T	c.(2545-2547)tgC>tgT	p.C849C	NID1_ENST00000366595.3_Silent_p.C716C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	849	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCTCGTGCTGGCACCGGGTTT	0.642																																																	0			1											27.0	27.0	27.0					1																	236157153		2203	4300	6503	234223776	SO:0001819	synonymous_variant	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2547C>T	1.37:g.236157153G>A			234223776	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																				0.642	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
ZP4	57829	hgsc.bcm.edu	37	1	238053843	238053843	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:238053843C>T	ENST00000366570.4	-	1	251	c.93G>A	c.(91-93)gtG>gtA	p.V31V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	31					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CACAGTGGAGCACACTGGAAT	0.507																																					NSCLC(166;160 2029 11600 18754 19936)												0			1											59.0	56.0	57.0					1																	238053843		2203	4300	6503	236120466	SO:0001819	synonymous_variant	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.93G>A	1.37:g.238053843C>T			236120466	B2RAE1	Silent	SNP	ENST00000366570.4	37	CCDS1615.1																																																																																				0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
FH	2271	hgsc.bcm.edu	37	1	241663756	241663756	+	Silent	SNP	T	T	C	rs199747704		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:241663756T>C	ENST00000366560.3	-	9	1409	c.1371A>G	c.(1369-1371)acA>acG	p.T457T		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	457					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)	p.T457T(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GATTGAGAGCTGTCACCAACA	0.368			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)		yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"""E, M"""	1	Substitution - coding silent(1)	lung(1)	1											158.0	152.0	154.0					1																	241663756		2203	4300	6503	239730379	SO:0001819	synonymous_variant	3949	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1371A>G	1.37:g.241663756T>C			239730379	B1ANK7	Silent	SNP	ENST00000366560.3	37	CCDS1617.1																																																																																				0.368	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143	
OPN3	23596	hgsc.bcm.edu	37	1	241761112	241761112	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:241761112G>A	ENST00000366554.2	-	3	987	c.881C>T	c.(880-882)tCg>tTg	p.S294L	OPN3_ENST00000331838.5_Missense_Mutation_p.S215L|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	294					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AAAGAGGTACGAAACAATAGA	0.398																																																	0			1											159.0	147.0	151.0					1																	241761112		2203	4300	6503	239827735	SO:0001583	missense	23596			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.881C>T	1.37:g.241761112G>A	ENSP00000355512:p.Ser294Leu		239827735	Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719365	0.48728	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.71222	-0.55;-0.55	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.150622	0.45126	D	0.000396	T	0.56514	0.1990	L	0.27053	0.805	0.46478	D	0.99906	P	0.48407	0.91	B	0.35413	0.202	T	0.67499	-0.5655	10	0.87932	D	0	.	17.1598	0.86801	0.0:0.0:1.0:0.0	.	294	Q9H1Y3	OPN3_HUMAN	L	294;215	ENSP00000355512:S294L;ENSP00000328018:S215L	ENSP00000328018:S215L	S	-	2	0	OPN3	239827735	1.000000	0.71417	0.760000	0.31359	0.027000	0.11550	5.778000	0.68940	2.210000	0.71456	0.655000	0.94253	TCG		0.398	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322	
PLD5	200150	hgsc.bcm.edu	37	1	242277236	242277236	+	Silent	SNP	G	G	A	rs576261716	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:242277236G>A	ENST00000536534.2	-	7	1267	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	PLD5_ENST00000442594.2_Silent_p.I250I|PLD5_ENST00000427495.1_Silent_p.I280I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	342						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.I250M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCATGACAGCGATGTACACAT	0.458													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18193	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	skin(1)	1											190.0	142.0	159.0					1																	242277236		2203	4300	6503	240343859	SO:0001819	synonymous_variant	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1026C>T	1.37:g.242277236G>A			240343859	A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	CCDS1621.2																																																																																				0.458	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
PLD5	200150	hgsc.bcm.edu	37	1	242383405	242383405	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:242383405G>A	ENST00000536534.2	-	5	861	c.620C>T	c.(619-621)aCg>aTg	p.T207M	PLD5_ENST00000442594.2_Missense_Mutation_p.T115M|PLD5_ENST00000427495.1_Missense_Mutation_p.T145M			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	207						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.T115M(3)|p.T207M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTTCATGTACGTCACCTCGGC	0.557																																																	4	Substitution - Missense(4)	lung(2)|ovary(1)|large_intestine(1)	1											131.0	118.0	123.0					1																	242383405		2203	4300	6503	240450028	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.620C>T	1.37:g.242383405G>A	ENSP00000440896:p.Thr207Met		240450028	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226328	0.39300	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.13778	2.56;2.56;2.56	5.52	4.6	0.57074	.	0.238118	0.43747	D	0.000527	T	0.07548	0.0190	N	0.17474	0.49	0.33978	D	0.647606	B;B;B	0.33694	0.421;0.297;0.421	B;B;B	0.21360	0.034;0.015;0.023	T	0.14420	-1.0473	10	0.54805	T	0.06	-20.8238	10.7734	0.46336	0.0909:0.0:0.9091:0.0	.	115;207;145	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	M	145;115;207	ENSP00000401285:T145M;ENSP00000414188:T115M;ENSP00000440896:T207M	ENSP00000401285:T145M	T	-	2	0	PLD5	240450028	0.983000	0.35010	0.999000	0.59377	0.995000	0.86356	1.828000	0.39111	2.591000	0.87537	0.655000	0.94253	ACG		0.557	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
SDCCAG8	10806	hgsc.bcm.edu	37	1	243471392	243471392	+	Missense_Mutation	SNP	G	G	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:243471392G>C	ENST00000366541.3	+	8	960	c.842G>C	c.(841-843)gGt>gCt	p.G281A	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.G238A|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.G281A|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.G136A	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	281	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CGTGTTGGTGGTCTTTGTTTG	0.383																																																	0			1											250.0	211.0	224.0					1																	243471392		2203	4300	6503	241538015	SO:0001583	missense	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.842G>C	1.37:g.243471392G>C	ENSP00000355499:p.Gly281Ala		241538015	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186848	0.78789	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.6	5.6	0.85130	.	0.049229	0.85682	D	0.000000	T	0.50616	0.1626	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.893	T	0.32052	-0.9921	10	0.18276	T	0.48	-11.8835	17.7577	0.88455	0.0:0.0:1.0:0.0	.	238;281	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	A	238;281;281;136;61	ENSP00000348137:G238A;ENSP00000375721:G281A;ENSP00000355499:G281A;ENSP00000341260:G136A;ENSP00000410200:G61A	ENSP00000341260:G136A	G	+	2	0	SDCCAG8	241538015	1.000000	0.71417	0.997000	0.53966	0.800000	0.45204	7.525000	0.81892	2.805000	0.96524	0.650000	0.86243	GGT		0.383	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642	
SDCCAG8	10806	hgsc.bcm.edu	37	1	243589845	243589845	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:243589845A>G	ENST00000366541.3	+	16	2088	c.1970A>G	c.(1969-1971)gAg>gGg	p.E657G	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E614G|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E512G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	657	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGAGTACATGAGACGATGAAG	0.398																																																	0			1											154.0	133.0	140.0					1																	243589845		2203	4300	6503	241656468	SO:0001583	missense	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1970A>G	1.37:g.243589845A>G	ENSP00000355499:p.Glu657Gly		241656468	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343967	0.61073	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.53423	0.71;0.68;0.7;0.62	6.02	6.02	0.97574	.	0.186098	0.46145	D	0.000310	T	0.57577	0.2063	L	0.27053	0.805	0.48135	D	0.999593	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58730	-0.7585	10	0.48119	T	0.1	-15.349	16.5446	0.84426	1.0:0.0:0.0:0.0	.	614;657	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	G	614;657;512;358	ENSP00000348137:E614G;ENSP00000355499:E657G;ENSP00000341260:E512G;ENSP00000410200:E358G	ENSP00000341260:E512G	E	+	2	0	SDCCAG8	241656468	1.000000	0.71417	0.986000	0.45419	0.202000	0.24057	6.790000	0.75115	2.311000	0.77944	0.533000	0.62120	GAG		0.398	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642	
KIF26B	55083	hgsc.bcm.edu	37	1	245530620	245530620	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:245530620G>A	ENST00000407071.2	+	3	1390	c.950G>A	c.(949-951)gGc>gAc	p.G317D	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	317					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TACCTGGATGGCACCTGGTCC	0.597																																																	0			1											21.0	27.0	25.0					1																	245530620		2122	4229	6351	243597243	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.950G>A	1.37:g.245530620G>A	ENSP00000385545:p.Gly317Asp		243597243	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228638	0.58777	.	.	ENSG00000162849	ENST00000407071	T	0.80653	-1.4	5.75	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.85835	0.5789	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.67382	0.951;0.921	D	0.87008	0.2121	10	0.87932	D	0	.	16.273	0.82630	0.0:0.1324:0.8676:0.0	.	317;317	B4DF75;Q2KJY2	.;KI26B_HUMAN	D	317	ENSP00000385545:G317D	ENSP00000385545:G317D	G	+	2	0	KIF26B	243597243	1.000000	0.71417	0.995000	0.50966	0.836000	0.47400	4.692000	0.61746	2.716000	0.92895	0.655000	0.94253	GGC		0.597	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
OR2L3	391192	hgsc.bcm.edu	37	1	248224426	248224426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:248224426G>A	ENST00000359959.3	+	1	443	c.443G>A	c.(442-444)tGg>tAg	p.W148*	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACAGGGTCTTGGATCATAGGC	0.433																																																	0			1											197.0	220.0	213.0					1																	248224426		2203	4300	6503	246291049	SO:0001587	stop_gained	391192			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.443G>A	1.37:g.248224426G>A	ENSP00000353044:p.Trp148*		246291049	B9EH44	Nonsense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	13.77	2.336290	0.41398	.	.	ENSG00000198128	ENST00000359959	.	.	.	1.91	0.933	0.19471	.	0.000000	0.30293	U	0.009952	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4659	0.32956	0.1435:0.0:0.8565:0.0	.	.	.	.	X	148	.	ENSP00000353044:W148X	W	+	2	0	OR2L3	246291049	0.004000	0.15560	0.543000	0.28128	0.054000	0.15201	-0.058000	0.11750	1.031000	0.39867	0.462000	0.41574	TGG		0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
OR52E2	119678	hgsc.bcm.edu	37	11	5080306	5080306	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:5080306C>A	ENST00000321522.2	-	1	551	c.552G>T	c.(550-552)atG>atT	p.M184I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGCAAGACCCATGTGCTCAC	0.398																																																	0			11											91.0	83.0	86.0					11																	5080306		2201	4298	6499	5036882	SO:0001583	missense	119678			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.552G>T	11.37:g.5080306C>A	ENSP00000322088:p.Met184Ile		5036882		Missense_Mutation	SNP	ENST00000321522.2	37	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962624	0.34659	.	.	ENSG00000176787	ENST00000321522	T	0.00069	8.77	3.76	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.00241	0.0007	M	0.78049	2.395	0.09310	N	0.999998	P	0.43392	0.805	P	0.44811	0.461	T	0.37361	-0.9709	10	0.38643	T	0.18	.	10.8757	0.46909	0.0:0.9037:0.0:0.0963	.	184	Q8NGJ4	O52E2_HUMAN	I	184	ENSP00000322088:M184I	ENSP00000322088:M184I	M	-	3	0	OR52E2	5036882	0.000000	0.05858	0.993000	0.49108	0.765000	0.43378	0.433000	0.21477	1.197000	0.43143	0.644000	0.83932	ATG		0.398	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164	
OR51B2	79345	hgsc.bcm.edu	37	11	5345234	5345234	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:5345234C>A	ENST00000328813.2	-	1	348	c.294G>T	c.(292-294)caG>caT	p.Q98H	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAAGTAAGCCTGTAGGAAGC	0.478																																																	0			11											89.0	75.0	80.0					11																	5345234		2201	4297	6498	5301810	SO:0001583	missense	79345			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.294G>T	11.37:g.5345234C>A	ENSP00000327540:p.Gln98His		5301810	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	C	7.625	0.677544	0.14841	.	.	ENSG00000184881	ENST00000328813	T	0.00472	7.19	4.39	-2.26	0.06867	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36482	U	0.002564	T	0.00845	0.0028	H	0.98133	4.155	0.27359	N	0.956016	B	0.31859	0.343	B	0.33620	0.167	T	0.32903	-0.9889	10	0.87932	D	0	.	5.475	0.16690	0.1244:0.498:0.0:0.3776	.	98	Q9Y5P1	O51B2_HUMAN	H	98	ENSP00000327540:Q98H	ENSP00000327540:Q98H	Q	-	3	2	OR51B2	5301810	0.011000	0.17503	0.065000	0.19835	0.141000	0.21300	0.183000	0.16919	-0.337000	0.08426	-0.152000	0.13540	CAG		0.478	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180	
OR52B6	340980	hgsc.bcm.edu	37	11	5602883	5602883	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:5602883C>A	ENST00000345043.2	+	1	777	c.777C>A	c.(775-777)acC>acA	p.T259T	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGAGTACCTGTGGATCCC	0.507																																																	0			11											243.0	256.0	252.0					11																	5602883		1997	4171	6168	5559459	SO:0001819	synonymous_variant	340980			AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.777C>A	11.37:g.5602883C>A			5559459	Q6IFI7	Silent	SNP	ENST00000345043.2	37	CCDS41611.1																																																																																				0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162	
CCKBR	887	hgsc.bcm.edu	37	11	6291979	6291979	+	Missense_Mutation	SNP	G	G	T	rs375063663		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:6291979G>T	ENST00000334619.2	+	4	950	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C	CCKBR_ENST00000525462.1_Missense_Mutation_p.G253C|CCKBR_ENST00000532715.1_Missense_Mutation_p.G169C	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	253					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCGCTTTGACGGCGACAGTGA	0.602																																																	0			11											107.0	83.0	91.0					11																	6291979		2201	4296	6497	6248555	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.757G>T	11.37:g.6291979G>T	ENSP00000335544:p.Gly253Cys		6248555	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959526	0.34565	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.72282	-0.64;-0.64;-0.64	5.66	-3.56	0.04626	GPCR, rhodopsin-like superfamily (1);	0.894418	0.09798	N	0.754401	T	0.68522	0.3010	L	0.58510	1.815	0.09310	N	1	P;B;B	0.41784	0.762;0.271;0.317	P;B;P	0.47346	0.544;0.348;0.479	T	0.63386	-0.6649	10	0.44086	T	0.13	.	9.3392	0.38069	0.6134:0.103:0.2835:0.0	.	253;187;253	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	C	253;169;253	ENSP00000335544:G253C;ENSP00000432079:G169C;ENSP00000435534:G253C	ENSP00000335544:G253C	G	+	1	0	CCKBR	6248555	0.140000	0.22579	0.004000	0.12327	0.765000	0.43378	0.408000	0.21065	-0.483000	0.06772	-0.440000	0.05779	GGC		0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875	
APBB1	322	hgsc.bcm.edu	37	11	6417179	6417179	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:6417179A>G	ENST00000609360.1	-	14	1901	c.1802T>C	c.(1801-1803)cTg>cCg	p.L601P	APBB1_ENST00000526240.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.L599P|APBB1_ENST00000299402.6_Missense_Mutation_p.L599P|APBB1_ENST00000529519.1_Missense_Mutation_p.L126P|APBB1_ENST00000608645.1_Missense_Mutation_p.L342P|APBB1_ENST00000389906.2_Missense_Mutation_p.L601P|APBB1_ENST00000608704.1_Missense_Mutation_p.L342P|APBB1_ENST00000609331.1_Missense_Mutation_p.L366P|APBB1_ENST00000530885.1_Missense_Mutation_p.L379P|APBB1_ENST00000608655.1_Missense_Mutation_p.L381P|APBB1_ENST00000608394.1_Missense_Mutation_p.L342P	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	601	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACACTCTCCCAGCACTGCCTC	0.577																																					GBM(147;1810 2556 5672 39622)												0			11											76.0	77.0	77.0					11																	6417179		2201	4296	6497	6373755	SO:0001583	missense	322			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1802T>C	11.37:g.6417179A>G	ENSP00000477213:p.Leu601Pro		6373755	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.	.	.	.	.	.	.	.	.	.	A	13.89	2.371091	0.42003	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	4.9	4.9	0.64082	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000017	T	0.49779	0.1577	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.988	T	0.54282	-0.8317	10	0.87932	D	0	-8.6947	12.4735	0.55799	1.0:0.0:0.0:0.0	.	601;379;599	O00213;B7Z2Y0;O00213-2	APBB1_HUMAN;.;.	P	599;599;601;450;342;366;379	ENSP00000299402:L599P;ENSP00000311912:L599P;ENSP00000374556:L601P;ENSP00000433338:L379P	ENSP00000299402:L599P	L	-	2	0	APBB1	6373755	1.000000	0.71417	0.997000	0.53966	0.128000	0.20619	7.257000	0.78362	1.836000	0.53414	0.477000	0.44152	CTG		0.577	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
TRIM3	10612	hgsc.bcm.edu	37	11	6477620	6477620	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:6477620G>A	ENST00000525074.1	-	6	1730	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C	TRIM3_ENST00000345851.3_Missense_Mutation_p.R446C|TRIM3_ENST00000537602.1_Missense_Mutation_p.R368C|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000536344.1_Missense_Mutation_p.R327C|TRIM3_ENST00000359518.3_Missense_Mutation_p.R446C	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	446					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTCTGGCGCACATGGCTG	0.647																																					Melanoma(6;5 510 1540 25169 29084)												0			11											49.0	46.0	47.0					11																	6477620		2201	4296	6497	6434196	SO:0001583	missense	10612			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1336C>T	11.37:g.6477620G>A	ENSP00000433102:p.Arg446Cys		6434196	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468449	0.63625	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;D	0.84146	-0.67;-0.67;-0.87;-0.67;-1.81	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68943	0.961;0.95;0.953	D	0.87090	0.2172	10	0.56958	D	0.05	-20.7659	13.2185	0.59873	0.0:0.0:0.8408:0.1592	.	327;327;446	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	C	446;446;446;446;435;368;446;327	ENSP00000433102:R446C;ENSP00000340797:R446C;ENSP00000441091:R368C;ENSP00000352508:R446C;ENSP00000445460:R327C	ENSP00000337094:R435C	R	-	1	0	TRIM3	6434196	0.005000	0.15991	1.000000	0.80357	0.996000	0.88848	0.654000	0.24918	2.648000	0.89879	0.563000	0.77884	CGC		0.647	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	
DNHD1	144132	hgsc.bcm.edu	37	11	6568740	6568740	+	Nonsense_Mutation	SNP	C	C	T	rs368557562		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:6568740C>T	ENST00000527990.2	+	19	6571	c.6571C>T	c.(6571-6573)Cga>Tga	p.R2191*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.R2191*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2191					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCAACATTGCGATTCCTCAC	0.572																																																	0			11						C	stop/ARG	0,1384		0,0,692	60.0	50.0	53.0		6571	2.0	0.1	11		53	1,3181		0,1,1590	no	stop-gained	DNHD1	NM_144666.2		0,1,2282	TT,TC,CC		0.0314,0.0,0.0219		2191/4754	6568740	1,4565	692	1591	2283	6525316	SO:0001587	stop_gained	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.6571C>T	11.37:g.6568740C>T	ENSP00000436180:p.Arg2191*		6525316	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	43	9.873687	0.99285	0.0	3.14E-4	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	.	.	.	6.17	2.04	0.26737	.	1.100630	0.06807	N	0.789664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	9.1967	0.37233	0.2904:0.4587:0.2509:0.0	.	.	.	.	X	2191;2191;482	.	ENSP00000254579:R2191X	R	+	1	2	DNHD1	6525316	0.000000	0.05858	0.131000	0.22000	0.047000	0.14425	-0.033000	0.12246	0.116000	0.18110	-0.165000	0.13383	CGA		0.572	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
TAF10	6881	hgsc.bcm.edu	37	11	6633003	6633003	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:6633003A>G	ENST00000299424.4	-	2	756	c.279T>C	c.(277-279)tcT>tcC	p.S93S	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	93					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAACCCCGTTAGATATGGCCC	0.642																																																	0			11											21.0	25.0	24.0					11																	6633003		2201	4295	6496	6589579	SO:0001819	synonymous_variant	6881			U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.279T>C	11.37:g.6633003A>G			6589579	O00703|Q13175|Q6FH13	Silent	SNP	ENST00000299424.4	37	CCDS7769.1																																																																																				0.642	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284	
PPFIBP2	8495	hgsc.bcm.edu	37	11	7614411	7614411	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:7614411C>T	ENST00000299492.4	+	4	716	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	PPFIBP2_ENST00000533792.1_5'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	110					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTACCAGGAACGCTTGGCACG	0.433																																																	0			11											108.0	100.0	103.0					11																	7614411		2201	4296	6497	7570987	SO:0001583	missense	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.328C>T	11.37:g.7614411C>T	ENSP00000299492:p.Arg110Cys		7570987	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218038	0.79352	.	.	ENSG00000166387	ENST00000299492;ENST00000527790;ENST00000541115	T;T	0.52057	0.68;0.68	5.83	5.83	0.93111	.	0.000000	0.50627	D	0.000102	T	0.68366	0.2993	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.961	T	0.71341	-0.4622	10	0.87932	D	0	-14.7306	12.5428	0.56182	0.1663:0.8337:0.0:0.0	.	33;110	F5GWB0;Q8ND30	.;LIPB2_HUMAN	C	110;110;33	ENSP00000299492:R110C;ENSP00000434981:R110C	ENSP00000299492:R110C	R	+	1	0	PPFIBP2	7570987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.891000	0.48617	2.761000	0.94854	0.650000	0.86243	CGC		0.433	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621	
DKK3	27122	hgsc.bcm.edu	37	11	11986055	11986055	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:11986055G>A	ENST00000396505.2	-	8	1247	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	DKK3_ENST00000326932.4_Missense_Mutation_p.P337S|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.P309S|DKK3_ENST00000525493.1_Missense_Mutation_p.P351S	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	337					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GCAGCCGCAGGCTCCCTCAGC	0.572																																																	0			11											78.0	101.0	93.0					11																	11986055		2201	4294	6495	11942631	SO:0001583	missense	27122			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.1009C>T	11.37:g.11986055G>A	ENSP00000379762:p.Pro337Ser		11942631	A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	37	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455774	0.26161	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094	T;T;T;T	0.30981	2.22;2.22;2.2;1.51	5.53	3.63	0.41609	.	0.275863	0.32041	N	0.006674	T	0.27731	0.0682	L	0.47716	1.5	0.31625	N	0.649785	B;B;B	0.32829	0.386;0.267;0.267	B;B;B	0.34242	0.178;0.06;0.06	T	0.31364	-0.9946	10	0.62326	D	0.03	-0.3131	10.1785	0.42952	0.0:0.1477:0.6987:0.1536	.	351;309;337	F6SYF8;E7EUD0;Q9UBP4	.;.;DKK3_HUMAN	S	337;337;280;351;309	ENSP00000379762:P337S;ENSP00000314910:P337S;ENSP00000433112:P351S;ENSP00000398365:P309S	ENSP00000314910:P337S	P	-	1	0	DKK3	11942631	0.995000	0.38212	0.694000	0.30210	0.064000	0.16182	2.764000	0.47613	0.672000	0.31204	-0.181000	0.13052	CCT		0.572	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253	
PIK3C2A	5286	hgsc.bcm.edu	37	11	17190789	17190789	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:17190789G>A	ENST00000265970.7	-	1	499	c.500C>T	c.(499-501)gCa>gTa	p.A167V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	167					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ATTTTGGAATGCAGCCTGTTT	0.413																																																	0			11											77.0	81.0	80.0					11																	17190789		2200	4293	6493	17147365	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.500C>T	11.37:g.17190789G>A	ENSP00000265970:p.Ala167Val		17147365	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495425	0.44352	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.63096	-0.02	5.53	3.66	0.41972	.	0.488658	0.24162	N	0.040977	T	0.42607	0.1210	N	0.14661	0.345	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.23655	-1.0182	10	0.51188	T	0.08	-1.7492	8.947	0.35764	0.2834:0.0:0.7166:0.0	.	167;167	F5H5W9;O00443	.;P3C2A_HUMAN	V	167	ENSP00000265970:A167V	ENSP00000265970:A167V	A	-	2	0	PIK3C2A	17147365	0.974000	0.33945	0.997000	0.53966	0.940000	0.58332	3.326000	0.52037	0.699000	0.31761	0.591000	0.81541	GCA		0.413	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	
KCNC1	3746	hgsc.bcm.edu	37	11	17757801	17757801	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:17757801G>A	ENST00000379472.3	+	1	282	c.252G>A	c.(250-252)ggG>ggA	p.G84G	KCNC1_ENST00000265969.6_Silent_p.G84G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	84					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ACGTGTGCGGGCCGCTCTACG	0.672																																																	0			11											43.0	43.0	43.0					11																	17757801		2200	4292	6492	17714377	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.252G>A	11.37:g.17757801G>A			17714377	K4DI87	Silent	SNP	ENST00000379472.3	37	CCDS7827.1																																																																																				0.672	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976	
SLC5A12	159963	hgsc.bcm.edu	37	11	26714123	26714123	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:26714123A>G	ENST00000396005.3	-	9	1375	c.1066T>C	c.(1066-1068)Ttg>Ctg	p.L356L	SLC5A12_ENST00000280467.6_Silent_p.L356L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	356					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ACTGTTGCCAAGGCATTGATG	0.488																																																	0			11											99.0	86.0	90.0					11																	26714123		2203	4299	6502	26670699	SO:0001819	synonymous_variant	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1066T>C	11.37:g.26714123A>G			26670699	Q86UC7	Silent	SNP	ENST00000396005.3	37	CCDS7860.2																																																																																				0.488	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	
SLC1A2	6506	hgsc.bcm.edu	37	11	35302521	35302521	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:35302521G>A	ENST00000278379.3	-	9	1596	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	SLC1A2_ENST00000395750.1_Silent_p.G429G|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000606205.1_Silent_p.G438G|SLC1A2_ENST00000395753.1_Silent_p.G429G|SLC1A2_ENST00000479543.1_5'UTR	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	438					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TACTGGCCGCGCCGACGCTTG	0.562																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												0			11											36.0	37.0	37.0					11																	35302521		2202	4298	6500	35259097	SO:0001819	synonymous_variant	6506			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1314C>T	11.37:g.35302521G>A			35259097	B4DQE9|Q14417|Q541G6|U3KQQ4	Silent	SNP	ENST00000278379.3	37	CCDS31459.1																																																																																				0.562	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171	
PAMR1	25891	hgsc.bcm.edu	37	11	35496275	35496275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:35496275G>A	ENST00000378880.2	-	4	842	c.397C>T	c.(397-399)Cga>Tga	p.R133*	PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R133*|PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R93*|PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	133	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTTGGGGCTCGCAGAACCTGG	0.438																																																	0			11											69.0	69.0	69.0					11																	35496275		2202	4298	6500	35452851	SO:0001587	stop_gained	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.397C>T	11.37:g.35496275G>A	ENSP00000368158:p.Arg133*		35452851	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Nonsense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	42	9.410116	0.99163	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000532848;ENST00000527605	.	.	.	5.2	3.26	0.37387	.	0.151084	0.44688	D	0.000438	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0362	0.64646	0.0:0.0:0.7248:0.2752	.	.	.	.	X	133;133;93;93	.	ENSP00000278360:R133X	R	-	1	2	PAMR1	35452851	0.885000	0.30320	0.898000	0.35279	0.985000	0.73830	3.259000	0.51515	0.528000	0.28580	0.462000	0.41574	CGA		0.438	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
PAMR1	25891	hgsc.bcm.edu	37	11	35513593	35513593	+	Splice_Site	SNP	G	G	A	rs201076075		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:35513593G>A	ENST00000378880.2	-	3	824	c.379C>T	c.(379-381)Cga>Tga	p.R127*	PAMR1_ENST00000278360.3_Splice_Site_p.R127*|PAMR1_ENST00000532848.1_Splice_Site_p.R87*|PAMR1_ENST00000378878.3_Splice_Site_p.P127S|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	127						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTCTACTTACGCATGCAGTCT	0.493																																																	0			11											157.0	147.0	150.0					11																	35513593		2202	4298	6500	35470169	SO:0001630	splice_region_variant	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.379+1C>T	11.37:g.35513593G>A			35470169	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Nonsense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.514385|7.514385	0.98332|0.98332	.|.	.|.	ENSG00000149090|ENSG00000149090	ENST00000378878;ENST00000529303|ENST00000278360;ENST00000378880;ENST00000532848;ENST00000527605	T;T|.	0.61859|.	0.07;0.07|.	5.38|5.38	3.35|3.35	0.38373|0.38373	.|.	.|0.061993	.|0.64402	.|D	.|0.000007	T|.	0.36358|.	0.0964|.	.|.	.|.	.|.	0.29015|0.29015	N|N	0.886669|0.886669	P|.	0.37176|.	0.586|.	B|.	0.32465|.	0.146|.	T|.	0.21211|.	-1.0252|.	7|.	.|.	.|.	.|.	.|.	8.2641|8.2641	0.31804|0.31804	0.0892:0.0:0.6471:0.2637|0.0892:0.0:0.6471:0.2637	.|.	127|.	A8MQ58|.	.|.	S|X	127|127;127;87;87	ENSP00000368156:P127S;ENSP00000433024:P127S|.	.|.	P|R	-|-	1|1	0|2	PAMR1|PAMR1	35470169|35470169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.233000|0.233000	0.25261|0.25261	2.072000|2.072000	0.41510|0.41510	1.285000|1.285000	0.44548|0.44548	-0.229000|-0.229000	0.12294|0.12294	CCA|CGA		0.493	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	Nonsense_Mutation
COMMD9	29099	hgsc.bcm.edu	37	11	36296246	36296246	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:36296246A>G	ENST00000263401.5	-	6	549	c.533T>C	c.(532-534)cTg>cCg	p.L178P	COMMD9_ENST00000533308.1_5'Flank|LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000532705.1_Silent_p.T166T|COMMD9_ENST00000452374.2_Missense_Mutation_p.L136P	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	178	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CATGGTGTCCAGTGTTTCTTT	0.567																																																	0			11											175.0	144.0	155.0					11																	36296246		2202	4298	6500	36252822	SO:0001583	missense	29099			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.533T>C	11.37:g.36296246A>G	ENSP00000263401:p.Leu178Pro		36252822	E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	CCDS7900.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499930	0.85176	.	.	ENSG00000110442	ENST00000263401;ENST00000452374	T;T	0.18810	2.19;2.19	5.66	5.66	0.87406	COMM domain (1);	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.977	T	0.56944	-0.7895	10	0.87932	D	0	-15.346	14.8828	0.70545	1.0:0.0:0.0:0.0	.	136;178	Q9P000-2;Q9P000	.;COMD9_HUMAN	P	178;136	ENSP00000263401:L178P;ENSP00000392510:L136P	ENSP00000263401:L178P	L	-	2	0	COMMD9	36252822	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.895000	0.87343	2.147000	0.66899	0.533000	0.62120	CTG		0.567	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186	
EXT2	2132	hgsc.bcm.edu	37	11	44146398	44146398	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:44146398A>G	ENST00000343631.3	+	5	932	c.803A>G	c.(802-804)gAc>gGc	p.D268G	EXT2_ENST00000358681.4_Missense_Mutation_p.D268G|EXT2_ENST00000395673.3_Missense_Mutation_p.D301G|EXT2_ENST00000533608.1_Missense_Mutation_p.D268G			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	268					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|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 formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	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)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TACAGAGAGGACCTAGAAGCC	0.502			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0			11											80.0	69.0	73.0					11																	44146398		2203	4300	6503	44102974	SO:0001583	missense	2133	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.803A>G	11.37:g.44146398A>G	ENSP00000342656:p.Asp268Gly		44102974	B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785399	0.49997	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.94793	-3.51;-3.51;-3.52;-3.51	5.81	5.81	0.92471	.	0.247416	0.47093	D	0.000251	D	0.91040	0.7181	L	0.34521	1.04	0.46416	D	0.999035	B;B;B;B;B	0.22746	0.024;0.012;0.01;0.022;0.074	B;B;B;B;B	0.26310	0.052;0.068;0.04;0.068;0.068	D	0.87516	0.2443	10	0.25751	T	0.34	0.0107	16.1699	0.81801	1.0:0.0:0.0:0.0	.	268;268;268;268;281	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	G	268;268;301;268	ENSP00000431173:D268G;ENSP00000351509:D268G;ENSP00000379032:D301G;ENSP00000342656:D268G	ENSP00000342656:D268G	D	+	2	0	EXT2	44102974	1.000000	0.71417	0.891000	0.34965	0.942000	0.58702	8.733000	0.91539	2.217000	0.71921	0.533000	0.62120	GAC		0.502	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401	
SLC39A13	91252	hgsc.bcm.edu	37	11	47431937	47431937	+	Missense_Mutation	SNP	C	C	T	rs369854018		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:47431937C>T	ENST00000362021.4	+	2	334	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SLC39A13_ENST00000533076.1_Missense_Mutation_p.R98C|RP11-750H9.5_ENST00000532340.1_RNA|SLC39A13_ENST00000524928.1_Missense_Mutation_p.R98C|SLC39A13_ENST00000354884.4_Missense_Mutation_p.R98C|SLC39A13_ENST00000531974.1_Missense_Mutation_p.R98C|RP11-750H9.5_ENST00000532943.1_RNA	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	98					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		GACCATGCTGCGCTCAGAAGG	0.617																																																	0			11						C	CYS/ARG,CYS/ARG	0,4402		0,0,2201	49.0	49.0	49.0		292,292	3.7	1.0	11		49	2,8594	2.2+/-6.3	0,2,4296	no	missense,missense	SLC39A13	NM_001128225.2,NM_152264.4	180,180	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	98/372,98/365	47431937	2,12996	2201	4298	6499	47388513	SO:0001583	missense	91252				CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.292C>T	11.37:g.47431937C>T	ENSP00000354689:p.Arg98Cys		47388513	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	ENST00000362021.4	37	CCDS44592.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165995	0.38217	0.0	2.33E-4	ENSG00000165915	ENST00000533076;ENST00000531974;ENST00000531419;ENST00000531865;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000527091;ENST00000524928	T;T;T;T;T;T;T;T;T	0.72282	-0.64;0.8;0.84;-0.63;-0.5;-0.31;-0.14;0.8;0.83	4.58	3.67	0.42095	.	0.206913	0.41605	D	0.000846	T	0.53562	0.1804	L	0.36672	1.1	0.50171	D	0.999852	B;B;P	0.36712	0.075;0.033;0.566	B;B;B	0.28139	0.056;0.02;0.086	T	0.51317	-0.8721	10	0.39692	T	0.17	-0.255	8.6537	0.34051	0.15:0.7694:0.0:0.0806	.	98;98;98	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	C	98	ENSP00000434290:R98C;ENSP00000435845:R98C;ENSP00000432302:R98C;ENSP00000434684:R98C;ENSP00000354689:R98C;ENSP00000346956:R98C;ENSP00000432499:R98C;ENSP00000435076:R98C;ENSP00000437186:R98C	ENSP00000346956:R98C	R	+	1	0	SLC39A13	47388513	0.998000	0.40836	0.998000	0.56505	0.950000	0.60333	2.271000	0.43364	0.913000	0.36797	-0.254000	0.11334	CGC		0.617	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	NM_152264	
OR4S2	219431	hgsc.bcm.edu	37	11	55418785	55418785	+	Missense_Mutation	SNP	C	C	T	rs148733636		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:55418785C>T	ENST00000312422.2	+	1	406	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R136W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATCATGAACCGGGAGACATG	0.433																																																	1	Substitution - Missense(1)	ovary(1)	11						C	TRP/ARG	1,4363		0,1,2181	197.0	166.0	177.0		406	-1.1	0.0	11	dbSNP_134	177	1,8077		0,1,4038	no	missense	OR4S2	NM_001004059.2	101	0,2,6219	TT,TC,CC		0.0124,0.0229,0.0161	benign	136/312	55418785	2,12440	2182	4039	6221	55175361	SO:0001583	missense	219431			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.406C>T	11.37:g.55418785C>T	ENSP00000310337:p.Arg136Trp		55175361	Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065803	0.08388	2.29E-4	1.24E-4	ENSG00000174982	ENST00000312422	T	0.00949	5.51	5.09	-1.09	0.09904	GPCR, rhodopsin-like superfamily (1);	0.270733	0.25205	N	0.032358	T	0.00998	0.0033	L	0.50333	1.59	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.44757	-0.9307	10	0.44086	T	0.13	.	5.7679	0.18237	0.5214:0.3235:0.0:0.1551	.	136	Q8NH73	OR4S2_HUMAN	W	136	ENSP00000310337:R136W	ENSP00000310337:R136W	R	+	1	2	OR4S2	55175361	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-2.203000	0.01234	0.129000	0.18514	0.542000	0.68232	CGG		0.433	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059	
CTNND1	1500	hgsc.bcm.edu	37	11	57563201	57563201	+	Splice_Site	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:57563201G>A	ENST00000399050.4	+	5	956	c.420G>A	c.(418-420)acG>acA	p.T140T	CTNND1_ENST00000360682.6_Splice_Site_p.T140T|CTNND1_ENST00000532245.1_Splice_Site_p.T39T|CTNND1_ENST00000530748.1_Splice_Site_p.T86T|CTNND1_ENST00000532787.1_Splice_Site_p.T39T|CTNND1_ENST00000528621.1_Splice_Site_p.T86T|CTNND1_ENST00000399039.4_Splice_Site_p.T140T|CTNND1_ENST00000426142.2_Splice_Site_p.T39T|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000361796.4_Splice_Site_p.T140T|CTNND1_ENST00000529873.1_Splice_Site_p.T86T|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361332.4_Splice_Site_p.T140T|CTNND1_ENST00000361391.6_Splice_Site_p.T140T|CTNND1_ENST00000534579.1_Splice_Site_p.T86T|CTNND1_ENST00000530094.1_Splice_Site_p.T39T|CTNND1_ENST00000528232.1_Splice_Site_p.T39T|CTNND1_ENST00000358694.6_Splice_Site_p.T140T|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000529526.1_Splice_Site_p.T86T|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000526357.1_Splice_Site_p.T86T|CTNND1_ENST00000415361.2_Splice_Site_p.T39T|CTNND1_ENST00000428599.2_Splice_Site_p.T140T|CTNND1_ENST00000526938.1_Splice_Site_p.T140T|CTNND1_ENST00000532463.1_Splice_Site_p.T39T|CTNND1_ENST00000529919.1_Splice_Site_p.T140T|CTNND1_ENST00000524630.1_Splice_Site_p.T140T|CTNND1_ENST00000532844.1_Splice_Site_p.T86T|CTNND1_ENST00000532649.1_Splice_Site_p.T86T|CTNND1_ENST00000529986.1_Splice_Site_p.T39T|CTNND1_ENST00000531014.1_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	140					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CAGAGACCACGGTAAACTAAG	0.488																																																	0			11											37.0	40.0	39.0					11																	57563201		1911	4124	6035	57319777	SO:0001630	splice_region_variant	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.420+1G>A	11.37:g.57563201G>A			57319777	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	CCDS44604.1																																																																																				0.488	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	Silent
MS4A14	84689	hgsc.bcm.edu	37	11	60183562	60183562	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:60183562A>G	ENST00000300187.6	+	5	1398	c.1121A>G	c.(1120-1122)gAc>gGc	p.D374G	MS4A14_ENST00000531783.1_Missense_Mutation_p.D407G|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.D262G|MS4A14_ENST00000395005.2_Missense_Mutation_p.D357G	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	374						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ctgtttcatgacatgacatcc	0.453																																																	0			11											145.0	111.0	123.0					11																	60183562		2203	4300	6503	59940138	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1121A>G	11.37:g.60183562A>G	ENSP00000300187:p.Asp374Gly		59940138	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153018	0.38021	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.36520	1.25;2.45;1.27;2.74	2.6	0.107	0.14544	.	2.504800	0.01886	N	0.038218	T	0.24774	0.0601	L	0.29908	0.895	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.11329	0.006;0.003	T	0.07947	-1.0746	10	0.25106	T	0.35	-0.0069	2.0841	0.03641	0.5894:0.0:0.1534:0.2572	.	357;374	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	G	262;374;357;407	ENSP00000437222:D262G;ENSP00000300187:D374G;ENSP00000378453:D357G;ENSP00000433761:D407G	ENSP00000300187:D374G	D	+	2	0	MS4A14	59940138	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.397000	0.07269	0.005000	0.14708	0.254000	0.18369	GAC		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
ZP1	22917	hgsc.bcm.edu	37	11	60642643	60642643	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:60642643C>T	ENST00000278853.5	+	11	1696	c.1696C>T	c.(1696-1698)Ccc>Tcc	p.P566S		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	566					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CACTGCCAGGCCCCAGGACAT	0.627																																																	0			11											64.0	67.0	66.0					11																	60642643		2203	4299	6502	60399219	SO:0001583	missense	57829			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1696C>T	11.37:g.60642643C>T	ENSP00000278853:p.Pro566Ser		60399219		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	6.669	0.492003	0.12702	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	T	0.22134	1.97	5.57	-0.351	0.12602	.	1.008750	0.07949	N	0.980520	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.39623	-0.9605	10	0.09338	T	0.73	-9.8057	7.0678	0.25161	0.0:0.2434:0.5335:0.2231	.	566	P60852	ZP1_HUMAN	S	566;273	ENSP00000278853:P566S	ENSP00000278853:P566S	P	+	1	0	ZP1	60399219	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.207000	0.17395	0.221000	0.20879	0.561000	0.74099	CCC		0.627	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341	
SCGB1D4	404552	hgsc.bcm.edu	37	11	62066429	62066429	+	Splice_Site	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:62066429C>A	ENST00000358585.1	-	1	107	c.54G>T	c.(52-54)caG>caT	p.Q18H		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	18						extracellular region (GO:0005576)				lung(1)|prostate(1)	2						TGTACTCACCCTGGTAGCAGC	0.532																																																	0			11											162.0	115.0	131.0					11																	62066429		2202	4299	6501	61823005	SO:0001630	splice_region_variant	404552			AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745		"""Secretoglobins"""	31748	protein-coding gene	gene with protein product		615062				15034037, 15340161, 22155607	Standard	NM_206998		Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.55+1G>T	11.37:g.62066429C>A			61823005	A1L4Q8	Missense_Mutation	SNP	ENST00000358585.1	37	CCDS31583.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091799	0.55968	.	.	ENSG00000197745	ENST00000358585	T	0.23754	1.89	2.27	1.33	0.21861	.	2.837800	0.02530	U	0.093554	T	0.35970	0.0950	.	.	.	0.21220	N	0.999757	D	0.61080	0.989	P	0.53809	0.735	T	0.11743	-1.0575	9	0.72032	D	0.01	.	4.5849	0.12277	0.0:0.8064:0.0:0.1936	.	18	Q6XE38	SG1D4_HUMAN	H	18	ENSP00000351395:Q18H	ENSP00000351395:Q18H	Q	-	3	2	SCGB1D4	61823005	0.012000	0.17670	0.987000	0.45799	0.357000	0.29423	-1.158000	0.03153	0.497000	0.27926	0.491000	0.48974	CAG		0.532	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394862.1	NM_206998	Missense_Mutation
SLC22A9	114571	hgsc.bcm.edu	37	11	63176247	63176247	+	Missense_Mutation	SNP	G	G	T	rs374697464		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:63176247G>T	ENST00000279178.3	+	9	1746	c.1497G>T	c.(1495-1497)tgG>tgT	p.W499C	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	499					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCCTGCCCTGGATCATCTATG	0.502																																																	0			11											148.0	134.0	139.0					11																	63176247		2201	4298	6499	62932823	SO:0001583	missense	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1497G>T	11.37:g.63176247G>T	ENSP00000279178:p.Trp499Cys		62932823	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332095	0.60853	.	.	ENSG00000149742	ENST00000279178	T	0.59083	0.29	2.63	2.63	0.31362	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.474187	0.21591	N	0.072094	T	0.76350	0.3975	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77688	-0.2494	10	0.40728	T	0.16	.	10.974	0.47454	0.0:0.0:1.0:0.0	.	499	Q8IVM8	S22A9_HUMAN	C	499	ENSP00000279178:W499C	ENSP00000279178:W499C	W	+	3	0	SLC22A9	62932823	1.000000	0.71417	0.995000	0.50966	0.688000	0.40055	3.326000	0.52037	1.492000	0.48499	0.205000	0.17691	TGG		0.502	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866	
STIP1	10963	hgsc.bcm.edu	37	11	63964984	63964984	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:63964984C>T	ENST00000305218.4	+	7	966	c.819C>T	c.(817-819)ggC>ggT	p.G273G	STIP1_ENST00000538945.1_Silent_p.G249G|STIP1_ENST00000358794.5_Silent_p.G320G	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	273					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TTGAAAAGGGCGACTACAATA	0.502																																																	0			11											73.0	73.0	73.0					11																	63964984		2201	4297	6498	63721560	SO:0001819	synonymous_variant	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.819C>T	11.37:g.63964984C>T			63721560	B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP	ENST00000305218.4	37	CCDS8058.1																																																																																				0.502	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819	
NUDT22	84304	hgsc.bcm.edu	37	11	63994436	63994436	+	Silent	SNP	G	G	A	rs374116646		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:63994436G>A	ENST00000279206.3	+	2	468	c.312G>A	c.(310-312)caG>caA	p.Q104Q	TRPT1_ENST00000546133.1_5'Flank|TRPT1_ENST00000541278.1_5'Flank|TRPT1_ENST00000394547.3_5'Flank|TRPT1_ENST00000540472.1_5'Flank|NUDT22_ENST00000441250.2_Silent_p.Q104Q|TRPT1_ENST00000546089.1_5'Flank|TRPT1_ENST00000317459.6_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|TRPT1_ENST00000394546.2_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	104							hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						GGCTGCGACAGCAGGGTGCCA	0.657																																																	0			11						G	,,	0,4396		0,0,2198	24.0	27.0	26.0		312,312,312	3.6	1.0	11		26	1,8585		0,1,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	NUDT22	NM_001128612.1,NM_001128613.1,NM_032344.2	,,	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	,,	104/304,104/271,104/304	63994436	1,12981	2198	4293	6491	63751012	SO:0001819	synonymous_variant	84304			BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.312G>A	11.37:g.63994436G>A			63751012	C9JY06|Q71RD5	Silent	SNP	ENST00000279206.3	37	CCDS8061.1																																																																																				0.657	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344	
ESRRA	2101	hgsc.bcm.edu	37	11	64074667	64074667	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:64074667G>A	ENST00000405666.1	+	2	250	c.16G>A	c.(16-18)Gtg>Atg	p.V6M	ESRRA_ENST00000000442.6_Missense_Mutation_p.V6M|RP11-783K16.10_ENST00000539086.1_RNA|ESRRA_ENST00000406310.1_Missense_Mutation_p.V6M	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	6	Repressor domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CAGCCAGGTGGTGGGCATTGA	0.632																																																	0			11											50.0	56.0	54.0					11																	64074667		2085	4214	6299	63831243	SO:0001583	missense	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.16G>A	11.37:g.64074667G>A	ENSP00000384851:p.Val6Met		63831243	Q14514	Missense_Mutation	SNP	ENST00000405666.1	37	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567246	0.65651	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000405666;ENST00000468670	D;D;D;D	0.96041	-3.02;-3.07;-3.07;-3.89	4.29	3.3	0.37823	.	0.305321	0.30510	N	0.009470	D	0.84786	0.5549	N	0.08118	0	0.30293	N	0.790172	B;B	0.31519	0.327;0.22	B;B	0.19946	0.027;0.012	T	0.79706	-0.1691	10	0.31617	T	0.26	.	5.5688	0.17184	0.1085:0.2026:0.6889:0.0	.	6;6	P11474-2;P11474	.;ERR1_HUMAN	M	6	ENSP00000385971:V6M;ENSP00000000442:V6M;ENSP00000384851:V6M;ENSP00000441970:V6M	ENSP00000000442:V6M	V	+	1	0	ESRRA	63831243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.489000	0.35562	2.380000	0.81148	0.561000	0.74099	GTG		0.632	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
EFEMP2	30008	hgsc.bcm.edu	37	11	65638093	65638093	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:65638093C>T	ENST00000307998.6	-	5	634	c.404G>A	c.(403-405)cGc>cAc	p.R135H	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R135H|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	135	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTGGCTGGGGCGACAGTCGTG	0.612																																																	0			11											81.0	69.0	73.0					11																	65638093		2201	4296	6497	65394669	SO:0001583	missense	30008			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.404G>A	11.37:g.65638093C>T	ENSP00000309953:p.Arg135His		65394669	A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419745	0.62622	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95	5.3	5.3	0.74995	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.43110	D	0.000612	D	0.89047	0.6604	N	0.11673	0.155	0.29377	N	0.863611	D;D	0.65815	0.995;0.965	P;P	0.59703	0.862;0.615	D	0.83964	0.0323	10	0.36615	T	0.2	.	11.3737	0.49715	0.1806:0.8194:0.0:0.0	.	135;135	E9PRU1;O95967	.;FBLN4_HUMAN	H	135	ENSP00000434151:R135H;ENSP00000309953:R135H;ENSP00000435419:R135H;ENSP00000435963:R135H	ENSP00000309953:R135H	R	-	2	0	EFEMP2	65394669	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.070000	0.41491	2.761000	0.94854	0.561000	0.74099	CGC		0.612	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938	
DRAP1	10589	hgsc.bcm.edu	37	11	65688868	65688868	+	Missense_Mutation	SNP	G	G	A	rs143922438		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:65688868G>A	ENST00000312515.2	+	7	825	c.580G>A	c.(580-582)Gca>Aca	p.A194T	DRAP1_ENST00000376991.2_Missense_Mutation_p.A201T|DRAP1_ENST00000532933.1_Missense_Mutation_p.A174T|C11orf68_ENST00000438576.2_5'Flank|DRAP1_ENST00000527119.1_Missense_Mutation_p.A150T|C11orf68_ENST00000449692.3_5'Flank	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	194	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		GGGCCCCTCAGCACCTGATGA	0.622																																																	0			11						G	THR/ALA	0,4402		0,0,2201	72.0	83.0	79.0		580	4.9	0.9	11	dbSNP_134	79	1,8591	1.2+/-3.3	0,1,4295	no	missense	DRAP1	NM_006442.3	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	194/206	65688868	1,12993	2201	4296	6497	65445444	SO:0001583	missense	10589			U41843	CCDS8123.1	11q13	2010-09-29			ENSG00000175550	ENSG00000175550			3019	protein-coding gene	gene with protein product	"""negative cofactor 2 alpha"", ""DR1-associated corepressor"""	602289				8608938	Standard	NM_006442		Approved	NC2-alpha	uc001ogj.2	Q14919	OTTHUMG00000166723	ENST00000312515.2:c.580G>A	11.37:g.65688868G>A	ENSP00000307850:p.Ala194Thr		65445444	Q13448	Missense_Mutation	SNP	ENST00000312515.2	37	CCDS8123.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577207	0.45902	0.0	1.16E-4	ENSG00000175550	ENST00000312515;ENST00000525501;ENST00000376991;ENST00000527119;ENST00000532933	.	.	.	4.9	4.9	0.64082	.	0.502377	0.18057	N	0.153065	T	0.37489	0.1005	L	0.29908	0.895	0.31476	N	0.667792	B	0.31100	0.308	B	0.30029	0.11	T	0.48031	-0.9070	9	0.48119	T	0.1	-4.9075	13.9561	0.64150	0.0:0.0:1.0:0.0	.	194	Q14919	NC2A_HUMAN	T	194;155;201;150;174	.	ENSP00000307850:A194T	A	+	1	0	DRAP1	65445444	1.000000	0.71417	0.950000	0.38849	0.350000	0.29205	4.555000	0.60767	2.450000	0.82876	0.655000	0.94253	GCA		0.622	DRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391197.2	NM_006442	
SART1	9092	hgsc.bcm.edu	37	11	65726679	65726679	+	5'Flank	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:65726679G>T	ENST00000312397.5	+	0	0				TSGA10IP_ENST00000608857.1_RNA|TSGA10IP_ENST00000532620.1_RNA	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells						cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCGGCTCACCGTCACTCGGCG	0.647																																																	0			11											24.0	28.0	27.0					11																	65726679		2055	4199	6254	65483255	SO:0001631	upstream_gene_variant	254187			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771		11.37:g.65726679G>T	Exception_encountered		65483255	A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	CCDS31611.1																																																																																				0.647	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1		
YIF1A	10897	hgsc.bcm.edu	37	11	66052190	66052190	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:66052190C>T	ENST00000376901.4	-	8	984	c.800G>A	c.(799-801)cGt>cAt	p.R267H	YIF1A_ENST00000359461.6_Missense_Mutation_p.R215H|YIF1A_ENST00000496746.1_Missense_Mutation_p.R53H|YIF1A_ENST00000526497.1_5'UTR|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000471387.2_Missense_Mutation_p.V154I	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	267					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGCTGGAGACGCTGCCGGGG	0.657																																																	0			11											19.0	22.0	21.0					11																	66052190		2192	4279	6471	65808766	SO:0001583	missense	10897			AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.800G>A	11.37:g.66052190C>T	ENSP00000366098:p.Arg267His		65808766	A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP	ENST00000376901.4	37	CCDS8132.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.07|14.07	2.427073|2.427073	0.43122|0.43122	.|.	.|.	ENSG00000174851|ENSG00000174851	ENST00000496746;ENST00000359461;ENST00000376901;ENST00000376904|ENST00000471387	T;T|.	0.48522|.	0.85;0.81|.	5.66|5.66	0.541|0.541	0.17168|0.17168	.|.	0.271361|.	0.37955|.	N|.	0.001879|.	T|T	0.54791|0.54791	0.1880|0.1880	L|L	0.40543|0.40543	1.245|1.245	0.42496|0.42496	D|D	0.992914|0.992914	B|.	0.15719|.	0.014|.	B|.	0.13407|.	0.009|.	T|T	0.54193|0.54193	-0.8330|-0.8330	10|6	0.45353|0.87932	T|D	0.12|0	-19.8096|-19.8096	9.5367|9.5367	0.39226|0.39226	0.0:0.5712:0.0:0.4288|0.0:0.5712:0.0:0.4288	.|.	267|.	O95070|.	YIF1A_HUMAN|.	H|I	53;215;267;271|154	ENSP00000352437:R215H;ENSP00000366098:R267H|.	ENSP00000352437:R215H|ENSP00000437042:V154I	R|V	-|-	2|1	0|0	YIF1A|YIF1A	65808766|65808766	0.094000|0.094000	0.21725|0.21725	0.867000|0.867000	0.34043|0.34043	0.948000|0.948000	0.59901|0.59901	0.394000|0.394000	0.20834|0.20834	-0.143000|-0.143000	0.11334|0.11334	-0.254000|-0.254000	0.11334|0.11334	CGT|GTC		0.657	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470	
RIN1	9610	hgsc.bcm.edu	37	11	66102239	66102239	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:66102239C>T	ENST00000311320.4	-	6	1157	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	RIN1_ENST00000424433.2_Missense_Mutation_p.R239Q|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Missense_Mutation_p.R239Q	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	344	Ras and 14-3-3 protein binding region.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AAGCAGAGGTCGTCGGCGGCC	0.716																																																	0			11											4.0	4.0	4.0					11																	66102239		2015	3967	5982	65858815	SO:0001583	missense	9610			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1031G>A	11.37:g.66102239C>T	ENSP00000310406:p.Arg344Gln		65858815	O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960230	0.74016	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.15487	2.97;2.83;2.42	3.96	3.03	0.35002	.	0.172194	0.37219	N	0.002185	T	0.24967	0.0606	L	0.47716	1.5	0.30174	N	0.801031	D;P;D	0.76494	0.961;0.955;0.999	B;B;P	0.60236	0.342;0.207;0.871	T	0.06770	-1.0808	10	0.17832	T	0.49	-12.7206	9.8172	0.40860	0.0:0.7893:0.2107:0.0	.	239;37;344	E9PNR2;B4DW96;Q13671	.;.;RIN1_HUMAN	Q	344;239;239	ENSP00000310406:R344Q;ENSP00000400560:R239Q;ENSP00000432798:R239Q	ENSP00000310406:R344Q	R	-	2	0	RIN1	65858815	0.025000	0.19082	0.943000	0.38184	0.536000	0.34869	0.356000	0.20181	0.786000	0.33708	0.462000	0.41574	CGA		0.716	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292	
DPP3	10072	hgsc.bcm.edu	37	11	66249709	66249709	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:66249709G>A	ENST00000360510.2	+	2	103	c.38G>A	c.(37-39)gGc>gAc	p.G13D	CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000530165.1_Missense_Mutation_p.G13D|DPP3_ENST00000531863.1_Missense_Mutation_p.G33D|DPP3_ENST00000453114.1_Missense_Mutation_p.G13D|CTD-3074O7.5_ENST00000527092.1_RNA|DPP3_ENST00000541961.1_Missense_Mutation_p.G13D|CTD-3074O7.5_ENST00000533502.1_RNA|DPP3_ENST00000532677.1_Missense_Mutation_p.G32D			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	13					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AATGACATCGGCGTGTCTAGC	0.602																																																	0			11											121.0	79.0	93.0					11																	66249709		2200	4295	6495	66006285	SO:0001583	missense	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.38G>A	11.37:g.66249709G>A	ENSP00000353701:p.Gly13Asp		66006285	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535000	0.85812	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000526515;ENST00000530165;ENST00000347422;ENST00000531314;ENST00000531354	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.71	5.71	0.89125	.	0.105321	0.64402	D	0.000004	T	0.56485	0.1988	L	0.51422	1.61	0.44711	D	0.997709	D;P	0.58620	0.983;0.589	D;P	0.71656	0.974;0.638	T	0.51772	-0.8663	10	0.40728	T	0.16	.	13.0001	0.58670	0.0:0.162:0.838:0.0	.	32;13	G3V1D3;Q9NY33	.;DPP3_HUMAN	D	33;32;13;13;13;13;13;13;13;13	ENSP00000432782:G33D;ENSP00000435284:G32D;ENSP00000353701:G13D;ENSP00000389943:G13D;ENSP00000440502:G13D;ENSP00000431606:G13D;ENSP00000436941:G13D;ENSP00000436820:G13D;ENSP00000432618:G13D	ENSP00000309957:G13D	G	+	2	0	DPP3	66006285	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.339000	0.72969	2.691000	0.91804	0.561000	0.74099	GGC		0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2		
RBM14	10432	hgsc.bcm.edu	37	11	66391769	66391769	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:66391769G>A	ENST00000310137.4	+	2	561	c.422G>A	c.(421-423)cGc>cAc	p.R141H	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000443702.1_3'UTR|RBM14_ENST00000393979.3_Missense_Mutation_p.R141H|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409372.1_3'UTR|RBM14_ENST00000461478.1_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	141	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AAGGGCAAGCGCATCAACGTG	0.567																																																	0			11											75.0	70.0	72.0					11																	66391769		2200	4295	6495	66148345	SO:0001583	missense	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.422G>A	11.37:g.66391769G>A	ENSP00000311747:p.Arg141His		66148345	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.634145	0.67130	.	.	ENSG00000239306	ENST00000310137;ENST00000393979	T;T	0.17054	2.3;2.3	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.298817	0.22643	N	0.057427	T	0.30978	0.0782	L	0.28776	0.89	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.67725	0.674;0.953	T	0.01604	-1.1314	10	0.66056	D	0.02	-2.4154	17.2666	0.87088	0.0:0.0:1.0:0.0	.	141;141	Q96PK6-2;Q96PK6	.;RBM14_HUMAN	H	141	ENSP00000311747:R141H;ENSP00000377548:R141H	ENSP00000311747:R141H	R	+	2	0	RBM14	66148345	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.507000	0.60434	2.687000	0.91594	0.655000	0.94253	CGC		0.567	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328	
C11orf80	79703	hgsc.bcm.edu	37	11	66595782	66595782	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:66595782C>T	ENST00000360962.4	+	14	1622	c.1615C>T	c.(1615-1617)Cgt>Tgt	p.R539C	C11orf80_ENST00000527634.1_Missense_Mutation_p.R322C|C11orf80_ENST00000525449.2_Missense_Mutation_p.R347C|C11orf80_ENST00000532565.2_Missense_Mutation_p.R321C|C11orf80_ENST00000346672.4_Missense_Mutation_p.R348C|C11orf80_ENST00000540737.1_Missense_Mutation_p.R374C	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	539										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CAAAGTATTTCGTGAGATCAC	0.438																																																	0			11											82.0	81.0	81.0					11																	66595782		1920	4117	6037	66352358	SO:0001583	missense	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.1615C>T	11.37:g.66595782C>T	ENSP00000354227:p.Arg539Cys		66352358	Q9H677	Missense_Mutation	SNP	ENST00000360962.4	37	CCDS53664.1	.	.	.	.	.	.	.	.	.	.	C	4.189	0.033752	0.08101	.	.	ENSG00000173715	ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449	T	0.32753	1.44	5.3	-0.0247	0.13938	.	1.186920	0.06254	N	0.692655	T	0.14787	0.0357	N	0.08118	0	0.20307	N	0.999917	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.25433	-1.0132	10	0.38643	T	0.18	0.74	4.1238	0.10118	0.1703:0.4782:0.0:0.3515	.	374;348;322;384;375	B4DXL1;C9JZP8;E9PKM2;Q8N6T0;E9PKZ8	.;.;.;CK080_HUMAN;.	C	539;348;322;375;374;348	ENSP00000354227:R539C	ENSP00000317408:R348C	R	+	1	0	C11orf80	66352358	0.536000	0.26378	0.246000	0.24233	0.101000	0.19017	0.226000	0.17776	-0.171000	0.10797	-0.181000	0.13052	CGT		0.438	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650	
PC	5091	hgsc.bcm.edu	37	11	66616566	66616566	+	Missense_Mutation	SNP	G	G	A	rs148492494		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:66616566G>A	ENST00000393958.2	-	22	3434	c.3341C>T	c.(3340-3342)gCg>gTg	p.A1114V	PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.A1114V|PC_ENST00000393960.1_Missense_Mutation_p.A1114V|PC_ENST00000529047.1_Missense_Mutation_p.A234V	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1114	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGCATGGGCGCCCCGATCTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		20113	0.0		0.001	False		,,,				2504	0.0																0			11						G	VAL/ALA,VAL/ALA,VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	71.0	71.0	71.0		3341,3341,3341	4.7	1.0	11	dbSNP_134	71	3,8587	3.0+/-9.4	0,3,4292	yes	missense,missense,missense	PC	NM_000920.3,NM_001040716.1,NM_022172.2	64,64,64	0,4,6491	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging,probably-damaging,probably-damaging	1114/1179,1114/1179,1114/1179	66616566	4,12986	2200	4295	6495	66373142	SO:0001583	missense	5624			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3341C>T	11.37:g.66616566G>A	ENSP00000377530:p.Ala1114Val		66373142	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.6	4.846019	0.91277	2.27E-4	3.49E-4	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	4.66	4.66	0.58398	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	D	0.94072	0.8100	M	0.92555	3.32	0.80722	D	1	D	0.76494	0.999	P	0.61201	0.885	D	0.95372	0.8465	10	0.87932	D	0	-16.7783	15.072	0.72046	0.0:0.0:1.0:0.0	.	1114	P11498	PYC_HUMAN	V	234;1114;1114;1114	ENSP00000435905:A234V;ENSP00000377527:A1114V;ENSP00000377530:A1114V;ENSP00000377532:A1114V	ENSP00000377527:A1114V	A	-	2	0	PC	66373142	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	7.147000	0.77382	2.414000	0.81942	0.462000	0.41574	GCG		0.612	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
CARNS1	57571	hgsc.bcm.edu	37	11	67191150	67191150	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:67191150C>T	ENST00000307823.3	+	9	2014	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000423745.2_Missense_Mutation_p.A521V|CARNS1_ENST00000445895.2_Missense_Mutation_p.A644V|CARNS1_ENST00000531040.1_Missense_Mutation_p.A618V	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	521	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CCCTGGCCTGCGCCCTCCCTC	0.657																																																	0			11											18.0	21.0	20.0					11																	67191150		2124	4235	6359	66947726	SO:0001583	missense	0				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1562C>T	11.37:g.67191150C>T	ENSP00000308268:p.Ala521Val		66947726	A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	37	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849837	0.32699	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52	5.37	4.39	0.52855	ATP-grasp fold (1);	0.165132	0.28618	N	0.014716	D	0.93956	0.8065	L	0.29908	0.895	0.09310	N	1	P;P	0.51791	0.873;0.948	B;B	0.39503	0.27;0.301	D	0.88518	0.3094	10	0.29301	T	0.29	-20.3516	14.4366	0.67284	0.0:0.8514:0.1486:0.0	.	521;660	A5YM72;A5YM72-3	CRNS1_HUMAN;.	V	618;521;618;521;644	ENSP00000431670:A618V;ENSP00000308268:A521V;ENSP00000401519:A521V;ENSP00000389009:A644V	ENSP00000308268:A521V	A	+	2	0	CARNS1	66947726	0.638000	0.27225	0.772000	0.31596	0.919000	0.55068	3.924000	0.56476	2.515000	0.84797	0.549000	0.68633	GCG		0.657	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811	
TBX10	347853	hgsc.bcm.edu	37	11	67401769	67401769	+	Missense_Mutation	SNP	C	C	T	rs372763899		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:67401769C>T	ENST00000335385.3	-	4	527	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	147					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						GAAGTGCACGCGGCCAGGTGT	0.642																																																	0			11						C	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	67.0	63.0	64.0		440	3.6	0.2	11		64	0,8586		0,0,4293	no	missense	TBX10	NM_005995.4	29	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	147/386	67401769	1,12985	2200	4293	6493	67158345	SO:0001583	missense	347853			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.440G>A	11.37:g.67401769C>T	ENSP00000335191:p.Arg147His		67158345	Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845782	0.71603	2.27E-4	0.0	ENSG00000167800	ENST00000335385	D	0.90563	-2.69	3.56	3.56	0.40772	p53-like transcription factor, DNA-binding (1);	0.000000	0.56097	D	0.000034	D	0.96204	0.8762	M	0.93978	3.48	0.53005	D	0.999969	D	0.89917	1.0	D	0.85130	0.997	D	0.97196	0.9861	10	0.87932	D	0	.	14.0846	0.64947	0.0:1.0:0.0:0.0	.	147	O75333	TBX10_HUMAN	H	147	ENSP00000335191:R147H	ENSP00000335191:R147H	R	-	2	0	TBX10	67158345	0.999000	0.42202	0.243000	0.24186	0.490000	0.33462	7.302000	0.78861	1.839000	0.53478	0.305000	0.20034	CGC		0.642	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995	
PPFIA1	8500	hgsc.bcm.edu	37	11	70202304	70202304	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:70202304C>A	ENST00000253925.7	+	19	2741	c.2526C>A	c.(2524-2526)gcC>gcA	p.A842A	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.A842A|AP000487.4_ENST00000324630.5_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	842					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTCAGGATGCCTTGGGACTTA	0.398																																																	0			11											136.0	143.0	141.0					11																	70202304		2200	4294	6494	69879952	SO:0001819	synonymous_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2526C>A	11.37:g.70202304C>A			69879952	A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.747|9.747	1.166544|1.166544	0.21621|0.21621	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000530798|ENST00000528750	.|.	.|.	.|.	5.15|5.15	3.22|3.22	0.36961|0.36961	.|.	.|.	.|.	.|.	.|.	T|T	0.59197|0.59197	0.2176|0.2176	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56001|0.56001	-0.8051|-0.8051	4|4	.|.	.|.	.|.	.|.	9.503|9.503	0.39028|0.39028	0.2673:0.6598:0.0:0.0728|0.2673:0.6598:0.0:0.0728	.|.	.|.	.|.	.|.	I|H	235|285	.|.	.|.	L|P	+|+	1|2	0|0	PPFIA1|PPFIA1	69879952|69879952	0.914000|0.914000	0.31030|0.31030	0.879000|0.879000	0.34478|0.34478	0.925000|0.925000	0.55904|0.55904	1.927000|1.927000	0.40094|0.40094	1.280000|1.280000	0.44463|0.44463	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.398	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
CTTN	2017	hgsc.bcm.edu	37	11	70277323	70277323	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:70277323G>A	ENST00000301843.8	+	15	1409	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	CTTN_ENST00000538675.1_Silent_p.T85T|CTTN_ENST00000346329.3_Silent_p.T364T|CTTN_ENST00000376561.3_Silent_p.T364T	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	401					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AAACGCAAACGCCCCCTGTGT	0.552																																																	0			11											121.0	131.0	128.0					11																	70277323		2200	4294	6494	69954971	SO:0001819	synonymous_variant	2017			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1203G>A	11.37:g.70277323G>A			69954971	Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	CCDS41680.1																																																																																				0.552	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565	
SHANK2	22941	hgsc.bcm.edu	37	11	70333475	70333475	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:70333475C>A	ENST00000423696.2	-	15	1822	c.1786G>T	c.(1786-1788)Gcc>Tcc	p.A596S	SHANK2_ENST00000338508.4_Missense_Mutation_p.A976S|SHANK2_ENST00000409161.1_Missense_Mutation_p.A379S|SHANK2_ENST00000449833.2_Missense_Mutation_p.A380S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	596					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGAAGTTGGCTTGCGGGCCG	0.592																																																	0			11											107.0	109.0	108.0					11																	70333475		2200	4294	6494	70011123	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1786G>T	11.37:g.70333475C>A	ENSP00000394536:p.Ala596Ser		70011123	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.	.	.	.	.	.	.	.	.	.	C	4.799	0.148511	0.09134	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.38722	2.41;2.41;3.13;1.12;2.53;2.53	4.85	3.87	0.44632	.	0.452856	0.24044	N	0.042063	T	0.33265	0.0857	L	0.35414	1.06	0.80722	D	1	B;P;B	0.45348	0.227;0.856;0.218	B;B;B	0.43536	0.079;0.423;0.167	T	0.03981	-1.0987	10	0.18710	T	0.47	.	13.2864	0.60245	0.0:0.7061:0.2939:0.0	.	596;975;380	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	S	380;379;254;976;596;614;599	ENSP00000399423:A380S;ENSP00000386491:A379S;ENSP00000402944:A254S;ENSP00000345193:A976S;ENSP00000394536:A596S;ENSP00000294018:A599S	ENSP00000294018:A599S	A	-	1	0	SHANK2	70011123	1.000000	0.71417	0.989000	0.46669	0.059000	0.15707	1.353000	0.34045	2.250000	0.74265	0.655000	0.94253	GCC		0.592	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309	
CLPB	81570	hgsc.bcm.edu	37	11	72028249	72028249	+	Missense_Mutation	SNP	G	G	A	rs148534573	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:72028249G>A	ENST00000294053.3	-	8	1152	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	CLPB_ENST00000437826.2_Missense_Mutation_p.R282W|CLPB_ENST00000538039.1_Missense_Mutation_p.R297W|CLPB_ENST00000340729.5_Missense_Mutation_p.R268W|CLPB_ENST00000543042.1_Missense_Mutation_p.R126W	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	327					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TCACGCTTCCGCTGCTTCTCT	0.617																																																	0			11						G	TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	68.0	58.0	61.0		979	5.0	1.0	11	dbSNP_134	61	8,8578	6.4+/-24.3	0,8,4285	yes	missense	CLPB	NM_030813.3	101	0,9,6484	AA,AG,GG		0.0932,0.0227,0.0693	probably-damaging	327/708	72028249	9,12977	2200	4293	6493	71705897	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.979C>T	11.37:g.72028249G>A	ENSP00000294053:p.Arg327Trp		71705897	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998773	0.74818	2.27E-4	9.32E-4	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683	T;T;T;T;T;T;T	0.68025	1.76;0.99;1.99;-0.3;2.24;0.28;0.73	5.9	4.97	0.65823	Ankyrin repeat-containing domain (1);	0.137925	0.48767	D	0.000172	T	0.69151	0.3079	N	0.22421	0.69	0.42406	D	0.992583	D;D;D;D;D	0.89917	0.996;0.999;0.999;0.999;1.0	P;D;P;D;D	0.65684	0.617;0.933;0.859;0.933;0.937	T	0.73745	-0.3886	10	0.87932	D	0	-21.5125	12.6773	0.56901	0.0:0.0:0.6903:0.3097	.	126;268;282;297;327	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078	.;.;.;.;CLPB_HUMAN	W	327;297;332;268;282;126;151	ENSP00000294053:R327W;ENSP00000441518:R297W;ENSP00000443822:R332W;ENSP00000340385:R268W;ENSP00000407296:R282W;ENSP00000439746:R126W;ENSP00000442651:R151W	ENSP00000294053:R327W	R	-	1	2	CLPB	71705897	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.227000	0.58612	1.448000	0.47680	0.655000	0.94253	CGG		0.617	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813	
ARAP1	116985	hgsc.bcm.edu	37	11	72437975	72437975	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:72437975C>T	ENST00000393609.3	-	3	401	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	ARAP1_ENST00000455638.2_Missense_Mutation_p.A67T|ARAP1_ENST00000359373.5_Missense_Mutation_p.A67T	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	67	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GAGGTATGGGCACGGAGCAGG	0.692																																					Ovarian(102;1198 1520 13195 17913 37529)												0			11											12.0	20.0	17.0					11																	72437975		2105	4200	6305	72115623	SO:0001583	missense	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.199G>A	11.37:g.72437975C>T	ENSP00000377233:p.Ala67Thr		72115623	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	0.631	-0.817314	0.02776	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393609	T;T;T	0.06294	3.33;3.33;3.32	4.56	3.65	0.41850	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);	0.126528	0.36066	N	0.002818	T	0.04815	0.0130	L	0.41824	1.3	0.29801	N	0.832404	B;B	0.33883	0.376;0.43	B;B	0.30572	0.071;0.117	T	0.23332	-1.0191	10	0.15499	T	0.54	.	7.1762	0.25747	0.0:0.7331:0.1733:0.0936	.	67;67	Q96P48-3;Q96P48	.;ARAP1_HUMAN	T	67	ENSP00000352332:A67T;ENSP00000390461:A67T;ENSP00000377233:A67T	ENSP00000352332:A67T	A	-	1	0	ARAP1	72115623	0.450000	0.25697	0.985000	0.45067	0.091000	0.18340	0.705000	0.25675	1.131000	0.42111	0.555000	0.69702	GCC		0.692	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
PCF11	51585	hgsc.bcm.edu	37	11	82878210	82878210	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:82878210C>T	ENST00000298281.4	+	6	2313	c.1861C>T	c.(1861-1863)Cat>Tat	p.H621Y		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	621					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCATCTGAGGCATAGGGAGAG	0.388																																																	0			11											136.0	132.0	133.0					11																	82878210		1915	4146	6061	82555858	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1861C>T	11.37:g.82878210C>T	ENSP00000298281:p.His621Tyr		82555858	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824550	0.71143	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.57273	1.33;0.41;0.5	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000011	T	0.64778	0.2629	L	0.32530	0.975	0.51233	D	0.999917	D;D	0.69078	0.997;0.981	D;D	0.75484	0.986;0.954	T	0.58567	-0.7614	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	621;621	E9PQ01;O94913	.;PCF11_HUMAN	Y	621	ENSP00000298281:H621Y;ENSP00000434540:H621Y;ENSP00000431567:H621Y	.	H	+	1	0	PCF11	82555858	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.610000	0.74178	2.838000	0.97847	0.591000	0.81541	CAT		0.388	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	
FAT3	120114	hgsc.bcm.edu	37	11	92532199	92532199	+	Missense_Mutation	SNP	T	T	A	rs563450153		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:92532199T>A	ENST00000298047.6	+	9	6037	c.6020T>A	c.(6019-6021)gTt>gAt	p.V2007D	FAT3_ENST00000525166.1_Missense_Mutation_p.V1857D|FAT3_ENST00000409404.2_Missense_Mutation_p.V2007D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2007	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCAATGCAGTTGGAAATCGC	0.423										TCGA Ovarian(4;0.039)																																							0			11											136.0	133.0	134.0					11																	92532199		1901	4123	6024	92171847	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6020T>A	11.37:g.92532199T>A	ENSP00000298047:p.Val2007Asp		92171847	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	16.99	3.274450	0.59649	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.28069	1.63;1.63;1.63	5.82	5.82	0.92795	.	.	.	.	.	T	0.35393	0.0930	N	0.25380	0.74	0.80722	D	1	P	0.46621	0.881	P	0.53185	0.72	T	0.03945	-1.0990	9	0.28530	T	0.3	.	16.1832	0.81925	0.0:0.0:0.0:1.0	.	2007	Q8TDW7-3	.	D	2007;2007;1857	ENSP00000298047:V2007D;ENSP00000387040:V2007D;ENSP00000432586:V1857D	ENSP00000298047:V2007D	V	+	2	0	FAT3	92171847	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.975000	0.88055	2.228000	0.72767	0.533000	0.62120	GTT		0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	hgsc.bcm.edu	37	11	92534950	92534950	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:92534950T>G	ENST00000298047.6	+	9	8788	c.8771T>G	c.(8770-8772)tTc>tGc	p.F2924C	FAT3_ENST00000525166.1_Missense_Mutation_p.F2774C|FAT3_ENST00000409404.2_Missense_Mutation_p.F2924C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2924	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCACCAGTCTTCGCGCAGGAA	0.552										TCGA Ovarian(4;0.039)																																							0			11											103.0	101.0	102.0					11																	92534950		2033	4196	6229	92174598	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8771T>G	11.37:g.92534950T>G	ENSP00000298047:p.Phe2924Cys		92174598	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	T	15.87	2.961071	0.53400	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.03413	3.94;3.94;3.94	6.04	6.04	0.98038	.	.	.	.	.	T	0.25975	0.0633	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07290	-1.0780	9	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	2924	Q8TDW7-3	.	C	2924;2924;2774	ENSP00000298047:F2924C;ENSP00000387040:F2924C;ENSP00000432586:F2774C	ENSP00000298047:F2924C	F	+	2	0	FAT3	92174598	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	7.975000	0.88055	2.317000	0.78254	0.460000	0.39030	TTC		0.552	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
MTNR1B	4544	hgsc.bcm.edu	37	11	92715053	92715053	+	Missense_Mutation	SNP	C	C	T	rs549634756		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:92715053C>T	ENST00000257068.2	+	2	670	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	222					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CTGCTACCTGCGCATCTGGGT	0.597																																																	0			11											65.0	57.0	60.0					11																	92715053		2201	4298	6499	92354701	SO:0001583	missense	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.664C>T	11.37:g.92715053C>T	ENSP00000257068:p.Arg222Cys		92354701		Missense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118553	0.37436	.	.	ENSG00000134640	ENST00000257068	T	0.39592	1.07	4.21	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.128742	0.52532	D	0.000067	T	0.49558	0.1564	M	0.89785	3.06	0.58432	D	0.999998	P	0.37525	0.598	B	0.39419	0.299	T	0.56625	-0.7948	10	0.49607	T	0.09	-11.5791	9.3531	0.38151	0.1425:0.7773:0.0:0.0802	.	222	P49286	MTR1B_HUMAN	C	222	ENSP00000257068:R222C	ENSP00000257068:R222C	R	+	1	0	MTNR1B	92354701	1.000000	0.71417	0.993000	0.49108	0.253000	0.25986	1.493000	0.35605	1.122000	0.41944	-0.424000	0.05967	CGC		0.597	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
CCDC82	79780	hgsc.bcm.edu	37	11	96098144	96098144	+	Splice_Site	SNP	C	C	A	rs143571415		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:96098144C>A	ENST00000278520.5	-	7	1808	c.1380G>T	c.(1378-1380)caG>caT	p.Q460H	CCDC82_ENST00000542662.1_Splice_Site_p.Q460H|CCDC82_ENST00000423339.2_Splice_Site_p.Q460H			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	460										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		AAGAAAATACCTGTTTATCAT	0.318																																																	0			11											81.0	81.0	81.0					11																	96098144		2201	4298	6499	95737792	SO:0001630	splice_region_variant	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1380+1G>T	11.37:g.96098144C>A			95737792	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070245	0.76301	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.27104	1.69;1.69;1.69	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.51007	0.1649	M	0.71581	2.175	0.58432	D	0.999995	D	0.89917	1.0	D	0.79108	0.992	T	0.48969	-0.8987	9	.	.	.	-13.1118	17.5022	0.87735	0.0:1.0:0.0:0.0	.	460	Q8N4S0	CCD82_HUMAN	H	460	ENSP00000278520:Q460H;ENSP00000444010:Q460H;ENSP00000397156:Q460H	.	Q	-	3	2	CCDC82	95737792	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.898000	0.63238	2.490000	0.84030	0.591000	0.81541	CAG		0.318	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725	Missense_Mutation
CCDC82	79780	hgsc.bcm.edu	37	11	96098232	96098232	+	Missense_Mutation	SNP	C	C	T	rs202142231		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:96098232C>T	ENST00000278520.5	-	7	1720	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	CCDC82_ENST00000542662.1_Missense_Mutation_p.R431H|CCDC82_ENST00000423339.2_Missense_Mutation_p.R431H			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	431										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TTTACAGTAGCGATGCAGTCC	0.348																																																	0			11											90.0	88.0	89.0					11																	96098232		2201	4298	6499	95737880	SO:0001583	missense	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1292G>A	11.37:g.96098232C>T	ENSP00000278520:p.Arg431His		95737880	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150152	0.78001	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.47177	0.85;0.85;0.85	5.22	4.31	0.51392	.	0.000000	0.64402	D	0.000001	T	0.65123	0.2661	M	0.66939	2.045	0.48696	D	0.999695	D	0.89917	1.0	D	0.85130	0.997	T	0.66724	-0.5851	10	0.51188	T	0.08	-7.3303	12.8887	0.58058	0.0:0.9192:0.0:0.0808	.	431	Q8N4S0	CCD82_HUMAN	H	431	ENSP00000278520:R431H;ENSP00000444010:R431H;ENSP00000397156:R431H	ENSP00000278520:R431H	R	-	2	0	CCDC82	95737880	1.000000	0.71417	0.448000	0.26945	0.997000	0.91878	4.898000	0.63238	1.335000	0.45486	0.591000	0.81541	CGC		0.348	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725	
KIAA1377	57562	hgsc.bcm.edu	37	11	101815107	101815107	+	Silent	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:101815107T>C	ENST00000263468.8	+	3	630	c.360T>C	c.(358-360)cgT>cgC	p.R120R		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	120										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AATTCCAGCGTGCCCATGTTC	0.353																																																	0			11											80.0	79.0	79.0					11																	101815107		2203	4299	6502	101320317	SO:0001819	synonymous_variant	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.360T>C	11.37:g.101815107T>C			101320317	Q4G0U6	Silent	SNP	ENST00000263468.8	37	CCDS31658.1																																																																																				0.353	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
MMP12	4321	hgsc.bcm.edu	37	11	102738104	102738104	+	RNA	SNP	G	G	A	rs202044860		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:102738104G>A	ENST00000532855.1	-	0	903							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TTTGGCAAGCGTTGGTTCTCT	0.383																																																	0			11											130.0	122.0	125.0					11																	102738104		1843	4096	5939	102243314			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738104G>A			102243314	B2R9X8|B7ZLF6|Q2M1L9	Silent	SNP	ENST00000532855.1	37																																																																																					0.383	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426	
ATM	472	hgsc.bcm.edu	37	11	108122664	108122664	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:108122664T>C	ENST00000452508.2	+	12	1897	c.1708T>C	c.(1708-1710)Ttt>Ctt	p.F570L	ATM_ENST00000278616.4_Missense_Mutation_p.F570L			Q13315	ATM_HUMAN	ATM serine/threonine kinase	570			F -> S (in AT). {ECO:0000269|PubMed:9887333}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAATAGAAGCTTTTCTTTAAA	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			11											116.0	119.0	118.0					11																	108122664		2201	4298	6499	107627874	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1708T>C	11.37:g.108122664T>C	ENSP00000388058:p.Phe570Leu		107627874	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806224	0.31961	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.56275	0.47;0.47;0.47	5.91	3.53	0.40419	Armadillo-type fold (1);	0.685523	0.15372	N	0.265783	T	0.37433	0.1003	L	0.44542	1.39	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.30090	-0.9990	10	0.11485	T	0.65	.	4.4935	0.11826	0.1334:0.2072:0.0:0.6594	.	570	Q13315	ATM_HUMAN	L	570	ENSP00000435747:F570L;ENSP00000278616:F570L;ENSP00000388058:F570L	ENSP00000278616:F570L	F	+	1	0	ATM	107627874	0.142000	0.22610	0.983000	0.44433	0.787000	0.44495	0.457000	0.21875	0.449000	0.26747	0.455000	0.32223	TTT		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	hgsc.bcm.edu	37	11	108173661	108173661	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:108173661A>G	ENST00000452508.2	+	37	5590	c.5401A>G	c.(5401-5403)Aat>Gat	p.N1801D	ATM_ENST00000278616.4_Missense_Mutation_p.N1801D			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1801					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.N1801Y(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCTAAGTGAAAATCATGACAT	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											131.0	138.0	135.0					11																	108173661		2201	4298	6499	107678871	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5401A>G	11.37:g.108173661A>G	ENSP00000388058:p.Asn1801Asp		107678871	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	4.957	0.177716	0.09443	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70631	-0.5;-0.5	5.1	3.96	0.45880	Armadillo-type fold (1);	0.319150	0.41823	D	0.000801	T	0.52240	0.1722	N	0.20685	0.6	0.26812	N	0.968976	B	0.02656	0.0	B	0.06405	0.002	T	0.37009	-0.9724	10	0.25751	T	0.34	.	10.4835	0.44708	0.9231:0.0:0.0769:0.0	.	1801	Q13315	ATM_HUMAN	D	1801	ENSP00000278616:N1801D;ENSP00000388058:N1801D	ENSP00000278616:N1801D	N	+	1	0	ATM	107678871	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	3.732000	0.55021	2.018000	0.59344	0.528000	0.53228	AAT		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	hgsc.bcm.edu	37	11	108175463	108175463	+	Missense_Mutation	SNP	A	A	G	rs1801673	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:108175463A>G	ENST00000452508.2	+	38	5747	c.5558A>G	c.(5557-5559)gAt>gGt	p.D1853G	ATM_ENST00000278616.4_Missense_Mutation_p.D1853G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1853			D -> N (common polymorphism; dbSNP:rs1801516). {ECO:0000269|PubMed:10397742, ECO:0000269|PubMed:10425038, ECO:0000269|PubMed:10534763, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9711876, ECO:0000269|PubMed:9887333}.|D -> V (might contribute to B-cell chronic lymphocytic leukemia; dbSNP:rs1801673). {ECO:0000269|PubMed:10397742, ECO:0000269|PubMed:10817650, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9872980, ECO:0000269|PubMed:9887333}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.D1853V(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTACTCCAAGATACAAATGAA	0.388			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11	GRCh37	CM083593	ATM	M	rs1801673						76.0	72.0	73.0					11																	108175463		2201	4298	6499	107680673	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5558A>G	11.37:g.108175463A>G	ENSP00000388058:p.Asp1853Gly		107680673	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.125129	0.56721	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73363	-0.74;-0.74	5.52	5.52	0.82312	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	L	0.53729	1.69	0.53005	D	0.99996	P	0.50617	0.937	B	0.40940	0.344	T	0.69041	-0.5250	10	0.24483	T	0.36	.	15.9357	0.79704	1.0:0.0:0.0:0.0	.	1853	Q13315	ATM_HUMAN	G	1853	ENSP00000278616:D1853G;ENSP00000388058:D1853G	ENSP00000278616:D1853G	D	+	2	0	ATM	107680673	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.951000	0.70273	2.218000	0.71995	0.482000	0.46254	GAT		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ZC3H12C	85463	hgsc.bcm.edu	37	11	110007988	110007988	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:110007988G>A	ENST00000278590.3	+	2	673	c.622G>A	c.(622-624)Gct>Act	p.A208T	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.A177T|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A209T	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	208							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TAAAAGTGAGGCTGATCAAAC	0.373																																																	0			11											64.0	60.0	61.0					11																	110007988		1860	4085	5945	109513198	SO:0001583	missense	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.622G>A	11.37:g.110007988G>A	ENSP00000278590:p.Ala208Thr		109513198	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	g	12.31	1.899078	0.33535	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.31769	1.48;1.48;1.48	5.65	0.0442	0.14224	.	425.996000	0.02679	U	0.109496	T	0.25195	0.0612	L	0.41824	1.3	0.23773	N	0.996886	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.19451	-1.0305	10	0.10902	T	0.67	-0.1325	9.022	0.36206	0.6645:0.0:0.3355:0.0	.	209;208;208	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	T	208;209;177	ENSP00000278590:A208T;ENSP00000431821:A209T;ENSP00000413094:A177T	ENSP00000278590:A208T	A	+	1	0	ZC3H12C	109513198	0.019000	0.18553	0.963000	0.40424	0.979000	0.70002	1.151000	0.31651	0.010000	0.14839	0.650000	0.86243	GCT		0.373	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
DLAT	1737	hgsc.bcm.edu	37	11	111899620	111899620	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:111899620C>A	ENST00000280346.6	+	4	1270	c.611C>A	c.(610-612)cCt>cAt	p.P204H	DLAT_ENST00000393051.1_Missense_Mutation_p.P204H|DLAT_ENST00000537636.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	204					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GCTTCGCCACCTACACCTTCT	0.527																																																	0			11											90.0	88.0	89.0					11																	111899620		2201	4297	6498	111404830	SO:0001583	missense	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.611C>A	11.37:g.111899620C>A	ENSP00000280346:p.Pro204His		111404830	Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996562	0.54147	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	T;T	0.18338	2.22;2.29	5.22	5.22	0.72569	.	0.244255	0.40728	N	0.001021	T	0.37652	0.1011	L	0.52573	1.65	0.80722	D	1	D;P	0.89917	1.0;0.856	D;B	0.68765	0.96;0.235	T	0.03969	-1.0988	10	0.54805	T	0.06	-8.6278	19.1652	0.93553	0.0:1.0:0.0:0.0	.	204;204	E9PEJ4;P10515	.;ODP2_HUMAN	H	204;172;204	ENSP00000280346:P204H;ENSP00000376771:P204H	ENSP00000280346:P204H	P	+	2	0	DLAT	111404830	0.695000	0.27747	0.033000	0.17914	0.058000	0.15608	6.156000	0.71840	2.607000	0.88179	0.585000	0.79938	CCT		0.527	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931	
CLDN25	644672	hgsc.bcm.edu	37	11	113650572	113650572	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:113650572C>A	ENST00000453129.2	+	1	104	c.55C>A	c.(55-57)Ctt>Att	p.L19I		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TCTCTCCCTCCTTGGCTGGGT	0.547																																																	0			11											88.0	95.0	93.0					11																	113650572		2091	4225	6316	113155782	SO:0001583	missense	0				CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.55C>A	11.37:g.113650572C>A	ENSP00000396304:p.Leu19Ile		113155782		Missense_Mutation	SNP	ENST00000453129.2	37	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202495	0.38905	.	.	ENSG00000228607	ENST00000453129	D	0.88354	-2.37	5.04	2.04	0.26737	.	.	.	.	.	D	0.83769	0.5326	L	0.43923	1.385	0.09310	N	0.999999	P	0.50156	0.932	P	0.47346	0.544	T	0.72308	-0.4332	9	0.33141	T	0.24	.	2.3387	0.04254	0.1336:0.5093:0.13:0.2271	.	19	C9JDP6	CLD25_HUMAN	I	19	ENSP00000396304:L19I	ENSP00000396304:L19I	L	+	1	0	CLDN25	113155782	0.001000	0.12720	0.754000	0.31244	0.958000	0.62258	-0.083000	0.11286	0.267000	0.21916	0.655000	0.94253	CTT		0.547	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389	
CLDN25	644672	hgsc.bcm.edu	37	11	113650938	113650938	+	Missense_Mutation	SNP	G	G	A	rs187854554		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:113650938G>A	ENST00000453129.2	+	1	470	c.421G>A	c.(421-423)Gcc>Acc	p.A141T		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTCCTGGGTGGCCCATGCCAC	0.567																																																	0			11											69.0	73.0	72.0					11																	113650938		1961	4136	6097	113156148	SO:0001583	missense	0				CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.421G>A	11.37:g.113650938G>A	ENSP00000396304:p.Ala141Thr		113156148		Missense_Mutation	SNP	ENST00000453129.2	37	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214361	0.95104	.	.	ENSG00000228607	ENST00000453129	D	0.87103	-2.21	5.1	5.1	0.69264	.	.	.	.	.	D	0.92932	0.7751	M	0.71296	2.17	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	D	0.93503	0.6846	9	0.87932	D	0	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	141	C9JDP6	CLD25_HUMAN	T	141	ENSP00000396304:A141T	ENSP00000396304:A141T	A	+	1	0	CLDN25	113156148	1.000000	0.71417	0.993000	0.49108	0.923000	0.55619	7.239000	0.78182	2.636000	0.89361	0.655000	0.94253	GCC		0.567	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389	
HTR3A	3359	hgsc.bcm.edu	37	11	113853982	113853982	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:113853982C>T	ENST00000504030.2	+	5	960	c.515C>T	c.(514-516)tCg>tTg	p.S172L	HTR3A_ENST00000506841.2_Missense_Mutation_p.S172L|HTR3A_ENST00000299961.5_Missense_Mutation_p.S157L|HTR3A_ENST00000355556.2_Missense_Mutation_p.S178L|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Missense_Mutation_p.S178L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	172					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CAGAACTGCTCGCTGACCTTC	0.587																																																	0			11											192.0	174.0	180.0					11																	113853982		2201	4296	6497	113359192	SO:0001583	missense	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.515C>T	11.37:g.113853982C>T	ENSP00000424189:p.Ser172Leu		113359192	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37		.	.	.	.	.	.	.	.	.	.	C	18.77	3.695727	0.68386	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.56	5.56	0.83823	.	0.205916	0.42682	D	0.000677	D	0.89543	0.6745	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.992;0.994	D	0.85891	0.1428	10	0.10377	T	0.69	-17.2352	19.5273	0.95212	0.0:1.0:0.0:0.0	.	157;178;178	B4DSY6;G5E986;Q7KZM7	.;.;.	L	172;178;178;172;157	ENSP00000424189:S172L;ENSP00000347754:S178L;ENSP00000364648:S178L;ENSP00000424776:S172L;ENSP00000299961:S157L	ENSP00000299961:S157L	S	+	2	0	HTR3A	113359192	1.000000	0.71417	0.900000	0.35374	0.211000	0.24417	4.176000	0.58269	2.615000	0.88500	0.555000	0.69702	TCG		0.587	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
NXPE1	120400	hgsc.bcm.edu	37	11	114400937	114400937	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:114400937C>T	ENST00000424269.1	-	2	792	c.793G>A	c.(793-795)Gta>Ata	p.V265I	NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000251921.2_Missense_Mutation_p.V123I|snoU13_ENST00000459372.1_RNA|NXPE1_ENST00000536312.1_Missense_Mutation_p.V265I			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	265						extracellular region (GO:0005576)											AGATAAGATACCTCTCTATTC	0.458																																																	0			11											92.0	92.0	92.0					11																	114400937		2201	4296	6497	113906147	SO:0001583	missense	120400			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.793G>A	11.37:g.114400937C>T	ENSP00000411690:p.Val265Ile		113906147	B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37		.	.	.	.	.	.	.	.	.	.	C	0.814	-0.750895	0.03041	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.44482	2.56;2.77;0.92	4.4	-1.87	0.07737	.	0.466168	0.18111	N	0.151362	T	0.17280	0.0415	N	0.05078	-0.115	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.25082	-1.0142	10	0.18710	T	0.47	.	8.9451	0.35753	0.0:0.5576:0.0:0.4424	.	265	F5H6W7	.	I	123;265;265	ENSP00000251921:V123I;ENSP00000411690:V265I;ENSP00000442984:V265I	ENSP00000251921:V123I	V	-	1	0	FAM55A	113906147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.166000	0.16583	-0.230000	0.09840	-1.004000	0.02495	GTA		0.458	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315	
TAGLN	6876	hgsc.bcm.edu	37	11	117074069	117074069	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:117074069C>T	ENST00000532870.1	+	2	1368	c.227C>T	c.(226-228)cCg>cTg	p.P76L	PCSK7_ENST00000529458.1_5'Flank|TAGLN_ENST00000392951.4_Missense_Mutation_p.P76L|TAGLN_ENST00000530649.1_Missense_Mutation_p.P76L			Q01995	TAGL_HUMAN	transgelin	76	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		GGCTCCAAGCCGGTGAAGGTG	0.577																																																	0			11											93.0	91.0	92.0					11																	117074069		2201	4296	6497	116579279	SO:0001583	missense	6876			M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"""SM22-alpha"", ""transgelin variant 2"""	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.227C>T	11.37:g.117074069C>T	ENSP00000432282:p.Pro76Leu		116579279	O15542	Missense_Mutation	SNP	ENST00000532870.1	37	CCDS8381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.965507|4.965507	0.92855|0.92855	.|.	.|.	ENSG00000149591|ENSG00000149591	ENST00000392951;ENST00000525531;ENST00000278968;ENST00000529792;ENST00000530649;ENST00000532870|ENST00000529622	D;D;D;D;D;D|.	0.93426|.	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Calponin homology domain (5);|.	0.365597|.	0.33419|.	N|.	0.004922|.	T|T	0.76905|0.76905	0.4053|0.4053	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.65443|.	0.935|.	T|T	0.77480|0.77480	-0.2572|-0.2572	10|5	0.72032|.	D|.	0.01|.	.|.	17.4727|17.4727	0.87650|0.87650	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	76|.	Q01995|.	TAGL_HUMAN|.	L|W	76|26	ENSP00000376678:P76L;ENSP00000432054:P76L;ENSP00000278968:P76L;ENSP00000431862:P76L;ENSP00000431941:P76L;ENSP00000432282:P76L|.	ENSP00000278968:P76L|.	P|R	+|+	2|1	0|2	TAGLN|TAGLN	116579279|116579279	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.953000|0.953000	0.61014|0.61014	7.098000|7.098000	0.76974|0.76974	2.666000|2.666000	0.90696|0.90696	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.577	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392864.1	NM_001001522	
DSCAML1	57453	hgsc.bcm.edu	37	11	117389392	117389392	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:117389392G>A	ENST00000321322.6	-	7	1480	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	DSCAML1_ENST00000527706.1_Silent_p.G223G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	433	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGGCGGGGCGCCCTTGGCCG	0.672																																																	0			11											46.0	45.0	45.0					11																	117389392		2201	4296	6497	116894602	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1479C>T	11.37:g.117389392G>A			116894602	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.672	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
BCL9L	283149	hgsc.bcm.edu	37	11	118773196	118773196	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118773196C>T	ENST00000334801.3	-	6	2220	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	419	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GAGCAGCAGTCGCTCAATGTC	0.682																																																	0			11											25.0	28.0	27.0					11																	118773196		2198	4291	6489	118278406	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1256G>A	11.37:g.118773196C>T	ENSP00000335320:p.Arg419Gln		118278406	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876449	0.91664	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.73258	-0.73	4.52	4.52	0.55395	B-cell lymphoma 9, beta-catenin binding domain (1);	0.000000	0.39407	N	0.001364	T	0.76478	0.3993	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.80480	-0.1364	10	0.87932	D	0	-16.1543	17.4217	0.87517	0.0:1.0:0.0:0.0	.	414;419	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	Q	419;382;419;419	ENSP00000335320:R419Q	ENSP00000335320:R419Q	R	-	2	0	BCL9L	118278406	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.816000	0.69222	2.365000	0.80145	0.305000	0.20034	CGA		0.682	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
CCDC84	338657	hgsc.bcm.edu	37	11	118882958	118882958	+	Silent	SNP	C	C	T	rs376394064		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118882958C>T	ENST00000334418.1	+	7	734	c.678C>T	c.(676-678)ggC>ggT	p.G226G	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	226										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CATTCATTGGCCATCAGGTAC	0.522																																																	0			11						C		0,4400		0,0,2200	79.0	69.0	72.0		678	-1.7	1.0	11		72	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	CCDC84	NM_198489.1		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		226/333	118882958	1,12989	2200	4295	6495	118388168	SO:0001819	synonymous_variant	338657			AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.678C>T	11.37:g.118882958C>T			118388168		Silent	SNP	ENST00000334418.1	37	CCDS8405.1																																																																																				0.522	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489	
HYOU1	10525	hgsc.bcm.edu	37	11	118923452	118923452	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118923452C>A	ENST00000404233.3	-	9	1008	c.884G>T	c.(883-885)aGa>aTa	p.R295I	HYOU1_ENST00000525859.1_Missense_Mutation_p.R295I|HYOU1_ENST00000543287.1_Missense_Mutation_p.R208I|HYOU1_ENST00000529972.1_Missense_Mutation_p.R295I	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	295					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ATCCTTTGCTCTCTGACCCTT	0.592																																																	0			11											71.0	65.0	67.0					11																	118923452		2200	4295	6495	118428662	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.884G>T	11.37:g.118923452C>A	ENSP00000384144:p.Arg295Ile		118428662	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024480	0.35701	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.01015	5.44;5.44;5.44;5.44;5.44	5.23	1.29	0.21616	.	1.383790	0.04361	N	0.357469	T	0.01029	0.0034	N	0.20986	0.625	0.09310	N	1	B;B;B;B	0.33826	0.427;0.074;0.427;0.427	B;B;B;B	0.35655	0.207;0.15;0.207;0.207	T	0.50381	-0.8835	10	0.23891	T	0.37	2.3158	6.7999	0.23746	0.0:0.6134:0.0:0.3866	.	286;339;295;295	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	I	295;286;295;295;144;295;338;208;295	ENSP00000384144:R295I;ENSP00000437313:R295I;ENSP00000433397:R295I;ENSP00000442727:R208I;ENSP00000431874:R295I	ENSP00000278752:R286I	R	-	2	0	HYOU1	118428662	0.057000	0.20700	0.002000	0.10522	0.804000	0.45430	0.855000	0.27805	0.089000	0.17243	-0.150000	0.13652	AGA		0.592	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389	
CCDC153	283152	hgsc.bcm.edu	37	11	119061086	119061086	+	Missense_Mutation	SNP	C	C	A	rs563015042		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:119061086C>A	ENST00000503566.2	-	6	555	c.556G>T	c.(556-558)Gcc>Tcc	p.A186S	CCDC153_ENST00000415318.1_Missense_Mutation_p.A186S			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	186										lung(3)|stomach(1)	4						TTGTGCCTGGCGTGAAGTCTC	0.572																																																	0			11											120.0	105.0	110.0					11																	119061086		2200	4295	6495	118566296	SO:0001583	missense	283152				CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.556G>T	11.37:g.119061086C>A	ENSP00000423567:p.Ala186Ser		118566296		Missense_Mutation	SNP	ENST00000503566.2	37	CCDS44753.1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588146	0.03799	.	.	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.44482	0.92;0.92	4.61	1.69	0.24217	.	0.755857	0.12387	N	0.473391	T	0.24122	0.0584	L	0.39898	1.24	0.09310	N	1	P	0.38020	0.615	B	0.35727	0.209	T	0.10753	-1.0616	10	0.10111	T	0.7	-32.6832	1.012	0.01499	0.1575:0.4081:0.1537:0.2807	.	186	Q494R4	CC153_HUMAN	S	186	ENSP00000423567:A186S;ENSP00000445431:A186S	ENSP00000445431:A186S	A	-	1	0	CCDC153	118566296	0.001000	0.12720	0.004000	0.12327	0.024000	0.10985	-0.270000	0.08584	0.193000	0.20303	0.511000	0.50034	GCC		0.572	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658	
TECTA	7007	hgsc.bcm.edu	37	11	120996473	120996473	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:120996473A>G	ENST00000392793.1	+	8	1937	c.1666A>G	c.(1666-1668)Agt>Ggt	p.S556G	TECTA_ENST00000264037.2_Missense_Mutation_p.S556G			O75443	TECTA_HUMAN	tectorin alpha	556					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGACCTGTGCAGTGTGAGGGA	0.582																																																	0			11											108.0	100.0	103.0					11																	120996473		2203	4299	6502	120501683	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1666A>G	11.37:g.120996473A>G	ENSP00000376543:p.Ser556Gly		120501683		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	9.704	1.155311	0.21454	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.76578	-1.03;-1.03	4.91	4.91	0.64330	Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	N	0.16862	0.45	0.35376	D	0.789462	B	0.18013	0.025	B	0.22152	0.038	T	0.60535	-0.7244	10	0.14656	T	0.56	.	9.408	0.38473	0.9194:0.0:0.0806:0.0	.	556	O75443	TECTA_HUMAN	G	556	ENSP00000376543:S556G;ENSP00000264037:S556G	ENSP00000264037:S556G	S	+	1	0	TECTA	120501683	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.561000	0.60809	1.985000	0.57927	0.460000	0.39030	AGT		0.582	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	hgsc.bcm.edu	37	11	120998520	120998520	+	Missense_Mutation	SNP	G	G	A	rs143730090	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:120998520G>A	ENST00000392793.1	+	9	2105	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N	TECTA_ENST00000264037.2_Missense_Mutation_p.D612N			O75443	TECTA_HUMAN	tectorin alpha	612	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAGCTGCCCCGACACATGCTC	0.632													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18317	0.0		0.0	False		,,,				2504	0.0																0			11						G	ASN/ASP	22,4384	29.0+/-57.7	0,22,2181	65.0	67.0	66.0		1834	3.5	0.7	11	dbSNP_134	66	0,8596		0,0,4298	yes	missense	TECTA	NM_005422.2	23	0,22,6479	AA,AG,GG		0.0,0.4993,0.1692	possibly-damaging	612/2156	120998520	22,12980	2203	4298	6501	120503730	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1834G>A	11.37:g.120998520G>A	ENSP00000376543:p.Asp612Asn		120503730		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	14.44	2.535013	0.45073	0.004993	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.90563	-2.69;-2.69	5.52	3.47	0.39725	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.055363	0.64402	D	0.000001	D	0.82572	0.5066	L	0.28556	0.865	0.32950	D	0.519588	B	0.26081	0.141	B	0.15484	0.013	T	0.78094	-0.2338	10	0.18276	T	0.48	.	12.2846	0.54786	0.1478:0.0:0.8522:0.0	.	612	O75443	TECTA_HUMAN	N	612	ENSP00000376543:D612N;ENSP00000264037:D612N	ENSP00000264037:D612N	D	+	1	0	TECTA	120503730	1.000000	0.71417	0.716000	0.30569	0.922000	0.55478	3.068000	0.50018	0.688000	0.31529	-0.137000	0.14449	GAC		0.632	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
OR8B2	26595	hgsc.bcm.edu	37	11	124253130	124253130	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:124253130A>G	ENST00000375013.2	-	1	128	c.110T>C	c.(109-111)gTc>gCc	p.V37A		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TACCATGGTGACAATGTAGAT	0.413																																																	0			11											215.0	185.0	195.0					11																	124253130		2201	4299	6500	123758340	SO:0001583	missense	26595			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.110T>C	11.37:g.124253130A>G	ENSP00000364152:p.Val37Ala		123758340	Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	a	13.81	2.347884	0.41599	.	.	ENSG00000204293	ENST00000375013	T	0.00596	6.32	4.2	3.08	0.35506	.	0.669254	0.13823	N	0.360254	T	0.00496	0.0016	N	0.21448	0.665	0.09310	N	0.999998	P	0.34800	0.469	B	0.31946	0.138	T	0.52245	-0.8601	10	0.62326	D	0.03	.	7.031	0.24967	0.8062:0.0:0.1938:0.0	.	37	Q96RD0	OR8B2_HUMAN	A	37	ENSP00000364152:V37A	ENSP00000364152:V37A	V	-	2	0	OR8B2	123758340	0.003000	0.15002	0.112000	0.21494	0.217000	0.24651	1.990000	0.40717	0.789000	0.33779	0.329000	0.21502	GTC		0.413	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468	
ROBO4	54538	hgsc.bcm.edu	37	11	124756449	124756449	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:124756449G>A	ENST00000306534.3	-	16	3190	c.2705C>T	c.(2704-2706)gCt>gTt	p.A902V	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.A757V	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	902					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTGAGCATCAGCGAGGAAGGA	0.607																																																	0			11											45.0	47.0	46.0					11																	124756449		2201	4299	6500	124261659	SO:0001583	missense	54538			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2705C>T	11.37:g.124756449G>A	ENSP00000304945:p.Ala902Val		124261659	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800659	0.50315	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.65364	-0.15;0.23	4.94	4.94	0.65067	.	0.000000	0.36234	N	0.002719	T	0.58509	0.2127	M	0.69823	2.125	0.09310	N	1	P;D	0.53151	0.949;0.958	P;B	0.48304	0.573;0.369	T	0.55283	-0.8165	10	0.06365	T	0.9	.	6.7326	0.23390	0.2222:0.0:0.7778:0.0	.	902;902	Q8WZ75-2;Q8WZ75	.;ROBO4_HUMAN	V	902;757	ENSP00000304945:A902V;ENSP00000437129:A757V	ENSP00000304945:A902V	A	-	2	0	ROBO4	124261659	0.912000	0.30974	0.705000	0.30386	0.965000	0.64279	3.288000	0.51739	2.435000	0.82474	0.655000	0.94253	GCT		0.607	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
STT3A	3703	hgsc.bcm.edu	37	11	125478128	125478128	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:125478128T>A	ENST00000529196.1	+	10	1111	c.905T>A	c.(904-906)gTc>gAc	p.V302D	STT3A_ENST00000531491.1_Missense_Mutation_p.V210D|STT3A_ENST00000392708.4_Missense_Mutation_p.V302D			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	302					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCCGGAGCGTCATCTCTCTG	0.473																																																	0			11											121.0	115.0	117.0					11																	125478128		2201	4299	6500	124983338	SO:0001583	missense	3703			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.905T>A	11.37:g.125478128T>A	ENSP00000436962:p.Val302Asp		124983338	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	CCDS8458.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.106654|5.106654	0.94292|0.94292	.|.	.|.	ENSG00000134910|ENSG00000134910	ENST00000526726|ENST00000392708;ENST00000529196;ENST00000531491	.|.	.|.	.|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74152|0.74152	0.3679|0.3679	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.48834	.|0.897;0.916;0.854	.|P;P;P	.|0.54590	.|0.524;0.756;0.756	T|T	0.74569|0.74569	-0.3622|-0.3622	5|9	.|0.40728	.|T	.|0.16	-22.0069|-22.0069	15.8567|15.8567	0.78983|0.78983	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|210;210;302	.|B4DJ24;E9PNQ1;P46977	.|.;.;STT3A_HUMAN	T|D	60|302;302;210	.|.	.|ENSP00000376472:V302D	S|V	+|+	1|2	0|0	STT3A|STT3A	124983338|124983338	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	6.178000|6.178000	0.71968|0.71968	2.228000|2.228000	0.72767|0.72767	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.473	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713	
KIRREL3	84623	hgsc.bcm.edu	37	11	126299107	126299107	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:126299107C>T	ENST00000525144.2	-	15	2022	c.1773G>A	c.(1771-1773)gaG>gaA	p.E591E	KIRREL3_ENST00000416561.2_Silent_p.E58E|KIRREL3_ENST00000529097.2_Silent_p.E579E	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	591					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTCCTCACCCTCCCGACCAG	0.498																																																	0			11											90.0	99.0	96.0					11																	126299107		1988	4157	6145	125804317	SO:0001819	synonymous_variant	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1773G>A	11.37:g.126299107C>T			125804317	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	CCDS53723.1																																																																																				0.498	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
NTM	50863	hgsc.bcm.edu	37	11	132177684	132177684	+	Missense_Mutation	SNP	C	C	T	rs202188991		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:132177684C>T	ENST00000374786.1	+	4	1107	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Missense_Mutation_p.P201S|NTM_ENST00000374784.1_Missense_Mutation_p.P210S|NTM_ENST00000374791.3_Missense_Mutation_p.P210S|NTM_ENST00000425719.2_Missense_Mutation_p.P210S|NTM_ENST00000539799.1_Missense_Mutation_p.P210S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	210	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CGTGGCCGCGCCCGTGGTACG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17701	0.0		0.001	False		,,,				2504	0.0																0			11											84.0	73.0	77.0					11																	132177684		2201	4297	6498	131682894	SO:0001583	missense	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.628C>T	11.37:g.132177684C>T	ENSP00000363918:p.Pro210Ser		131682894	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.1	4.489700	0.84962	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	L	0.42529	1.33	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.998;1.0;0.994	D;D;D;D;D;D	0.83275	0.996;0.994;0.967;0.994;0.99;0.95	T	0.62868	-0.6763	10	0.12430	T	0.62	-15.5836	20.3754	0.98918	0.0:1.0:0.0:0.0	.	210;201;210;210;210;210	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	S	210;210;201;210;210;210	ENSP00000363923:P210S;ENSP00000437668:P210S;ENSP00000416320:P201S;ENSP00000363918:P210S;ENSP00000396722:P210S;ENSP00000363916:P210S	ENSP00000363916:P210S	P	+	1	0	NTM	131682894	0.998000	0.40836	0.767000	0.31495	0.411000	0.31082	4.383000	0.59600	2.894000	0.99253	0.591000	0.81541	CCC		0.582	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	
GLB1L2	89944	hgsc.bcm.edu	37	11	134212845	134212845	+	Splice_Site	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:134212845C>T	ENST00000535456.2	+	2	472	c.284C>T	c.(283-285)aCc>aTc	p.T95I	GLB1L2_ENST00000339772.7_Splice_Site_p.T95I|GLB1L2_ENST00000389881.3_Splice_Site_p.T95I	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	95					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ACCCTCACCACGTAGGTGCTG	0.607																																																	0			11											58.0	53.0	54.0					11																	134212845		2201	4297	6498	133718055	SO:0001630	splice_region_variant	89944				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.284+1C>T	11.37:g.134212845C>T			133718055	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084581	0.76642	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.98090	-4.71;-4.71;-4.71	4.72	4.72	0.59763	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	M	0.85462	2.755	0.58432	D	0.999998	D	0.62365	0.991	P	0.58970	0.849	D	0.98701	1.0700	10	0.45353	T	0.12	-25.1206	17.8758	0.88825	0.0:1.0:0.0:0.0	.	95	Q8IW92	GLBL2_HUMAN	I	95	ENSP00000344659:T95I;ENSP00000444628:T95I;ENSP00000374531:T95I	ENSP00000344659:T95I	T	+	2	0	GLB1L2	133718055	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	5.783000	0.68982	2.460000	0.83146	0.561000	0.74099	ACC		0.607	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	Missense_Mutation
GMDS	2762	hgsc.bcm.edu	37	6	1961101	1961101	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:1961101T>A	ENST00000380815.4	-	5	714	c.445A>T	c.(445-447)Aag>Tag	p.K149*	GMDS_ENST00000530927.1_Nonsense_Mutation_p.K119*	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	149					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGGTAGAACTTCACAGAGTTG	0.488																																																	0			6											135.0	134.0	134.0					6																	1961101		2203	4300	6503	1906100	SO:0001587	stop_gained	2762			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.445A>T	6.37:g.1961101T>A	ENSP00000370194:p.Lys149*		1906100	E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Nonsense_Mutation	SNP	ENST00000380815.4	37	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	T	40	8.061346	0.98635	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.26	4.08	0.47627	.	0.286229	0.32328	N	0.006241	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-15.1508	12.3047	0.54895	0.0:0.0:0.1417:0.8583	.	.	.	.	X	119;149	.	ENSP00000370194:K149X	K	-	1	0	GMDS	1906100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.892000	0.39748	0.823000	0.34589	0.533000	0.62120	AAG		0.488	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3		
PXDC1	221749	hgsc.bcm.edu	37	6	3727804	3727804	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:3727804C>T	ENST00000380283.4	-	4	1053	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	187							phosphatidylinositol binding (GO:0035091)										GTTGGGTCCACGCCCAGCTGC	0.428																																																	0			6											122.0	112.0	115.0					6																	3727804		2203	4300	6503	3672803	SO:0001583	missense	221749			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.559G>A	6.37:g.3727804C>T	ENSP00000369636:p.Val187Met		3672803	A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344329	0.41498	.	.	ENSG00000168994	ENST00000380283	T	0.35048	1.33	5.41	3.64	0.41730	.	0.360024	0.31772	N	0.007092	T	0.13286	0.0322	L	0.40543	1.245	0.25272	N	0.989502	B	0.12630	0.006	B	0.08055	0.003	T	0.19484	-1.0304	10	0.62326	D	0.03	-14.4166	10.4036	0.44243	0.1321:0.7959:0.0:0.0719	.	187	Q5TGL8	CF145_HUMAN	M	187	ENSP00000369636:V187M	ENSP00000369636:V187M	V	-	1	0	C6orf145	3672803	0.298000	0.24417	0.102000	0.21198	0.250000	0.25880	2.172000	0.42463	0.635000	0.30488	-0.205000	0.12727	GTG		0.428	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373	
NRN1	51299	hgsc.bcm.edu	37	6	6002607	6002607	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:6002607G>A	ENST00000244766.2	-	2	396	c.179C>T	c.(178-180)aCg>aTg	p.T60M	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	60					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CTTGATGTTCGTCTTGTCGTC	0.622																																																	0			6											160.0	133.0	142.0					6																	6002607		2203	4300	6503	5947606	SO:0001583	missense	51299			AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.179C>T	6.37:g.6002607G>A	ENSP00000244766:p.Thr60Met		5947606	B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	37	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795126	0.31777	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	3.35	0.38373	.	0.365932	0.28047	N	0.016803	T	0.09247	0.0228	N	0.08118	0	0.28989	N	0.888189	B	0.25390	0.125	B	0.16722	0.016	T	0.15838	-1.0423	9	0.42905	T	0.14	-12.1762	10.9187	0.47152	0.0:0.4041:0.5959:0.0	.	60	Q9NPD7	NRN1_HUMAN	M	60	.	ENSP00000244766:T60M	T	-	2	0	NRN1	5947606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.123000	0.57917	0.967000	0.38186	0.462000	0.41574	ACG		0.622	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1		
NRN1	51299	hgsc.bcm.edu	37	6	6002686	6002686	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:6002686C>A	ENST00000244766.2	-	2	317	c.100G>T	c.(100-102)Gtc>Ttc	p.V34F	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	34					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CCCTTGAAGACCGCATCGCAC	0.647																																																	0			6											135.0	113.0	121.0					6																	6002686		2203	4300	6503	5947685	SO:0001583	missense	51299			AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.100G>T	6.37:g.6002686C>A	ENSP00000244766:p.Val34Phe		5947685	B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	37	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518947	0.85495	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.076848	0.51477	D	0.000090	T	0.61937	0.2387	L	0.53249	1.67	0.54753	D	0.999985	D	0.65815	0.995	D	0.63877	0.919	T	0.66760	-0.5842	9	0.72032	D	0.01	-13.1752	13.9329	0.64007	0.0:1.0:0.0:0.0	.	34	Q9NPD7	NRN1_HUMAN	F	34	.	ENSP00000244766:V34F	V	-	1	0	NRN1	5947685	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.429000	0.73387	2.185000	0.69588	0.462000	0.41574	GTC		0.647	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1		
BMP6	654	hgsc.bcm.edu	37	6	7862555	7862555	+	Missense_Mutation	SNP	C	C	A	rs150526011	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:7862555C>A	ENST00000283147.6	+	4	1187	c.1028C>A	c.(1027-1029)gCc>gAc	p.A343D		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	343			A -> D (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.A343D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CACCCCCGAGCCGCAGGCCTG	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)	6											83.0	91.0	88.0					6																	7862555		2203	4300	6503	7807554	SO:0001583	missense	654			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1028C>A	6.37:g.7862555C>A	ENSP00000283147:p.Ala343Asp		7807554	Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	C	2.638	-0.284899	0.05605	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.65178	-0.14	5.8	4.93	0.64822	Transforming growth factor-beta, N-terminal (1);	0.178088	0.49305	D	0.000154	T	0.24699	0.0599	N	0.24115	0.695	0.46011	D	0.998811	B	0.14012	0.009	B	0.15052	0.012	T	0.13335	-1.0513	10	0.11794	T	0.64	.	9.6259	0.39750	0.1736:0.752:0.0:0.0744	.	343	P22004	BMP6_HUMAN	D	265;343;306	ENSP00000283147:A343D	ENSP00000283147:A343D	A	+	2	0	BMP6	7807554	0.963000	0.33076	0.172000	0.22920	0.197000	0.23852	2.322000	0.43814	1.451000	0.47736	0.655000	0.94253	GCC		0.532	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718	
GCM2	9247	hgsc.bcm.edu	37	6	10874878	10874878	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:10874878G>T	ENST00000379491.4	-	5	1018	c.871C>A	c.(871-873)Ctt>Att	p.L291I	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	291					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.L291V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCCTTATAAAGGGTGGGATAT	0.423																																																	1	Substitution - Missense(1)	central_nervous_system(1)	6											203.0	196.0	199.0					6																	10874878		2203	4300	6503	10982864	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.871C>A	6.37:g.10874878G>T	ENSP00000368805:p.Leu291Ile		10982864	D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	9.569	1.120637	0.20877	.	.	ENSG00000124827	ENST00000379491	T	0.70399	-0.48	5.5	3.71	0.42584	.	0.537761	0.19969	N	0.102035	T	0.55305	0.1912	M	0.73962	2.25	0.47441	D	0.999421	P	0.42456	0.78	B	0.38106	0.265	T	0.60747	-0.7202	10	0.66056	D	0.02	-15.1929	9.1306	0.36843	0.2809:0.0:0.7191:0.0	.	291	O75603	GCM2_HUMAN	I	291	ENSP00000368805:L291I	ENSP00000368805:L291I	L	-	1	0	GCM2	10982864	0.814000	0.29104	0.031000	0.17742	0.207000	0.24258	0.734000	0.26101	0.788000	0.33755	0.650000	0.86243	CTT		0.423	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
HIST1H2BL	8340	hgsc.bcm.edu	37	6	27775621	27775621	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:27775621C>A	ENST00000377401.2	-	1	88	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	HIST1H2AI_ENST00000358739.3_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	22					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TTCTTCTGGGCCTTGGTCACC	0.572																																																	0			6											130.0	127.0	128.0					6																	27775621		2203	4300	6503	27883600	SO:0001583	missense	8340			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.64G>T	6.37:g.27775621C>A	ENSP00000366618:p.Ala22Ser		27883600	B2R5A3|Q52LW9	Missense_Mutation	SNP	ENST00000377401.2	37	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	12.12	1.843577	0.32606	.	.	ENSG00000185130	ENST00000377401	T	0.20069	2.1	4.35	4.35	0.52113	Histone-fold (2);	.	.	.	.	T	0.10121	0.0248	M	0.67953	2.075	0.29830	N	0.830072	B	0.30851	0.297	B	0.24701	0.055	T	0.10019	-1.0648	9	0.59425	D	0.04	.	6.9145	0.24352	0.0:0.7967:0.0:0.2033	.	22	Q99880	H2B1L_HUMAN	S	22	ENSP00000366618:A22S	ENSP00000366618:A22S	A	-	1	0	HIST1H2BL	27883600	1.000000	0.71417	0.992000	0.48379	0.087000	0.18053	1.334000	0.33827	2.331000	0.79229	0.650000	0.86243	GCC		0.572	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519	
HIST1H2BM	8342	hgsc.bcm.edu	37	6	27783059	27783059	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:27783059C>T	ENST00000359465.4	+	1	238	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	80					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						AGAAGCGTCACGCCTGGCGCA	0.592																																																	0			6											114.0	105.0	108.0					6																	27783059		2203	4300	6503	27891038	SO:0001583	missense	8342			Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.238C>T	6.37:g.27783059C>T	ENSP00000352442:p.Arg80Cys		27891038	Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	12.74	2.027612	0.35797	.	.	ENSG00000196374	ENST00000359465	T	0.32753	1.44	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000013	T	0.32912	0.0845	M	0.92367	3.3	0.80722	D	1	B	0.25169	0.119	B	0.19666	0.026	T	0.47328	-0.9126	10	0.49607	T	0.09	.	15.9934	0.80223	0.0:1.0:0.0:0.0	.	80	Q99879	H2B1M_HUMAN	C	80	ENSP00000352442:R80C	ENSP00000352442:R80C	R	+	1	0	HIST1H2BM	27891038	1.000000	0.71417	0.953000	0.39169	0.535000	0.34838	5.377000	0.66184	2.308000	0.77769	0.563000	0.77884	CGC		0.592	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521	
C6orf136	221545	hgsc.bcm.edu	37	6	30614298	30614298	+	5'Flank	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:30614298A>G	ENST00000376473.5	+	0	0				AL662800.2_ENST00000583820.1_RNA|ATAT1_ENST00000468713.1_3'UTR|C6orf136_ENST00000376471.4_5'Flank|ATAT1_ENST00000330083.5_Missense_Mutation_p.M370V|ATAT1_ENST00000376478.2_Missense_Mutation_p.M359V|ATAT1_ENST00000376485.4_Missense_Mutation_p.M382V|C6orf136_ENST00000293604.6_5'Flank	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGAGAAGCCCATGCACACAGC	0.597																																																	0			6											16.0	18.0	17.0					6																	30614298		1284	2544	3828	30722277	SO:0001631	upstream_gene_variant	0			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221		6.37:g.30614298A>G	Exception_encountered		30722277	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.357962	0.00214	.	.	ENSG00000137343	ENST00000376485;ENST00000376478;ENST00000330083	.	.	.	4.9	-5.79	0.02354	.	.	.	.	.	T	0.01835	0.0058	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32851	-0.9891	8	0.02654	T	1	4.0569	2.5289	0.04698	0.4451:0.1191:0.3191:0.1166	.	370;382	Q5SQI0-2;Q5SQI0	.;ATAT_HUMAN	V	382;359;370	.	ENSP00000327832:M370V	M	+	1	0	ATAT1	30722277	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.184000	0.00567	-0.939000	0.03709	-1.389000	0.01157	ATG		0.597	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029	
EGFL8	80864	hgsc.bcm.edu	37	6	32134573	32134573	+	Missense_Mutation	SNP	C	C	T	rs371176366		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:32134573C>T	ENST00000395512.1	+	4	425	c.320C>T	c.(319-321)gCg>gTg	p.A107V	EGFL8_ENST00000333845.6_Missense_Mutation_p.A107V|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	107	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CACCCGGGGGCGCTCACCTGT	0.667																																																	0			6						C	VAL/ALA	0,4406		0,0,2203	30.0	36.0	34.0		320	5.2	1.0	6		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	EGFL8	NM_030652.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	107/294	32134573	1,13005	2203	4300	6503	32242551	SO:0001583	missense	80864			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.320C>T	6.37:g.32134573C>T	ENSP00000378888:p.Ala107Val		32242551	B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417883	0.83449	0.0	1.16E-4	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.89810	-2.57;-2.57;2.09	6.08	5.21	0.72293	EMI domain (1);	.	.	.	.	D	0.87947	0.6306	L	0.60455	1.87	0.32719	N	0.51057	D	0.76494	0.999	P	0.60415	0.874	D	0.85539	0.1214	9	0.30854	T	0.27	-12.1407	11.3236	0.49436	0.0:0.9172:0.0:0.0828	.	107	Q99944	EGFL8_HUMAN	V	107	ENSP00000333380:A107V;ENSP00000378888:A107V;ENSP00000401694:A107V	ENSP00000333380:A107V	A	+	2	0	EGFL8	32242551	0.867000	0.29959	0.992000	0.48379	0.966000	0.64601	1.447000	0.35101	1.595000	0.50050	-0.136000	0.14681	GCG		0.667	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652	
ITPR3	3710	hgsc.bcm.edu	37	6	33658852	33658852	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:33658852C>T	ENST00000374316.5	+	53	8251	c.7191C>T	c.(7189-7191)ctC>ctT	p.L2397L	ITPR3_ENST00000605930.1_Silent_p.L2397L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2397					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACTTCATTCTCGAGGTCGACC	0.587																																																	0			6											119.0	111.0	114.0					6																	33658852		2203	4300	6503	33766830	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7191C>T	6.37:g.33658852C>T			33766830	Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																				0.587	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
MAPK14	1432	hgsc.bcm.edu	37	6	36020512	36020512	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:36020512A>G	ENST00000229794.4	+	2	541	c.153A>G	c.(151-153)gcA>gcG	p.A51A	MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000229795.3_Silent_p.A51A|MAPK14_ENST00000310795.4_Silent_p.A51A	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> V (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TACGTGTGGCAGTGAAGAAGC	0.378																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)												0			6											122.0	119.0	120.0					6																	36020512		2203	4300	6503	36128490	SO:0001819	synonymous_variant	1432			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.153A>G	6.37:g.36020512A>G			36128490	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Silent	SNP	ENST00000229794.4	37	CCDS4816.1																																																																																				0.378	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315	
UNC5CL	222643	hgsc.bcm.edu	37	6	41002498	41002498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:41002498G>A	ENST00000373164.1	-	1	376	c.316C>T	c.(316-318)Cga>Tga	p.R106*	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Nonsense_Mutation_p.R106*			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	106	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCACCTCTCGAGCCGAAAAC	0.567																																																	0			6											181.0	159.0	167.0					6																	41002498		2203	4300	6503	41110476	SO:0001587	stop_gained	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.316C>T	6.37:g.41002498G>A	ENSP00000362258:p.Arg106*		41110476	Q5TGU1	Nonsense_Mutation	SNP	ENST00000373164.1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300471	0.95601	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	.	.	.	4.66	3.78	0.43462	.	0.197821	0.25768	N	0.028440	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-5.0956	9.9892	0.41860	0.0:0.0:0.7979:0.2021	.	.	.	.	X	106	.	ENSP00000244565:R106X	R	-	1	2	UNC5CL	41110476	0.080000	0.21391	0.989000	0.46669	0.919000	0.55068	0.913000	0.28611	1.177000	0.42855	0.563000	0.77884	CGA		0.567	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561	
RUNX2	860	hgsc.bcm.edu	37	6	45514707	45514707	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:45514707G>A	ENST00000371438.1	+	8	1589	c.1231G>A	c.(1231-1233)Ggt>Agt	p.G411S	RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.G479S|RUNX2_ENST00000371436.6_Missense_Mutation_p.G389S|RUNX2_ENST00000541979.1_Missense_Mutation_p.G457S|RUNX2_ENST00000465038.2_Missense_Mutation_p.G411S|RUNX2_ENST00000371432.3_Missense_Mutation_p.G375S|RUNX2_ENST00000359524.5_Missense_Mutation_p.G397S	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	411	Interaction with KAT6A. {ECO:0000250}.|Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G411S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CATGTCCCTCGGTATGTCCGC	0.577																																																	1	Substitution - Missense(1)	ovary(1)	6											147.0	116.0	126.0					6																	45514707		2203	4300	6503	45622685	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1231G>A	6.37:g.45514707G>A	ENSP00000360493:p.Gly411Ser		45622685	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109934	0.77210	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.97328	-4.29;-4.34;-4.26;-4.29;-4.25;-4.3;-4.27	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.96781	0.8949	L	0.41710	1.295	0.80722	D	1	D;D;D	0.76494	0.986;0.998;0.999	P;P;P	0.62560	0.555;0.762;0.904	D	0.95328	0.8427	10	0.31617	T	0.26	-6.6236	19.922	0.97089	0.0:0.0:1.0:0.0	.	457;411;397	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	S	411;479;457;411;389;397;375	ENSP00000420707:G411S;ENSP00000319087:G479S;ENSP00000446290:G457S;ENSP00000360493:G411S;ENSP00000360491:G389S;ENSP00000352514:G397S;ENSP00000360486:G375S	ENSP00000319087:G479S	G	+	1	0	RUNX2	45622685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.780000	0.95670	0.655000	0.94253	GGT		0.577	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348	
COL12A1	1303	hgsc.bcm.edu	37	6	75890797	75890797	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:75890797C>T	ENST00000322507.8	-	11	2331	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	COL12A1_ENST00000416123.2_Silent_p.E674E|COL12A1_ENST00000483888.2_Silent_p.E674E|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	674	Fibronectin type-III 3. {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						CCACAGTGACCTCATCATCCC	0.483																																																	0			6											95.0	97.0	97.0					6																	75890797		2001	4188	6189	75947517	SO:0001819	synonymous_variant	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.2022G>A	6.37:g.75890797C>T			75947517	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1																																																																																				0.483	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
FILIP1	27145	hgsc.bcm.edu	37	6	76022694	76022694	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:76022694T>C	ENST00000237172.7	-	5	3184	c.2854A>G	c.(2854-2856)Ata>Gta	p.I952V	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.I952V|FILIP1_ENST00000370020.1_Missense_Mutation_p.I853V	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	952										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ATAATGGTTATTCTTGGTTTC	0.423																																																	0			6											153.0	151.0	152.0					6																	76022694		2203	4300	6503	76079414	SO:0001583	missense	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2854A>G	6.37:g.76022694T>C	ENSP00000237172:p.Ile952Val		76079414	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442735	0.83993	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.25579	1.79;1.79;1.79	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	M	0.65975	2.015	0.80722	D	1	D;D;D	0.71674	0.991;0.996;0.998	P;D;D	0.75020	0.82;0.966;0.985	T	0.10109	-1.0644	10	0.33141	T	0.24	-28.2046	16.5582	0.84512	0.0:0.0:0.0:1.0	.	952;952;952	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	952;952;853	ENSP00000376728:I952V;ENSP00000237172:I952V;ENSP00000359037:I853V	ENSP00000237172:I952V	I	-	1	0	FILIP1	76079414	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.768000	0.85345	2.308000	0.77769	0.533000	0.62120	ATA		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
AKIRIN2	55122	hgsc.bcm.edu	37	6	88385637	88385637	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:88385637G>A	ENST00000257787.5	-	4	1066	c.542C>T	c.(541-543)gCg>gTg	p.A181V		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	181					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						CTTCACAAACGCATCATATTG	0.313																																																	0			6											78.0	75.0	76.0					6																	88385637		2203	4299	6502	88442356	SO:0001583	missense	55122			BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"""chromosome 6 open reading frame 166"""	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.542C>T	6.37:g.88385637G>A	ENSP00000257787:p.Ala181Val		88442356	Q9BQB1	Missense_Mutation	SNP	ENST00000257787.5	37	CCDS5013.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997557	0.74818	.	.	ENSG00000135334	ENST00000257787	.	.	.	5.77	5.77	0.91146	.	0.046361	0.85682	D	0.000000	T	0.43545	0.1252	L	0.58428	1.81	0.80722	D	1	P	0.47034	0.889	B	0.36922	0.236	T	0.43556	-0.9384	9	0.29301	T	0.29	-10.9035	20.3473	0.98799	0.0:0.0:1.0:0.0	.	181	Q53H80	AKIR2_HUMAN	V	181	.	ENSP00000257787:A181V	A	-	2	0	AKIRIN2	88442356	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.420000	0.97426	2.884000	0.98904	0.655000	0.94253	GCG		0.313	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041455.1	NM_018064	
RRAGD	58528	hgsc.bcm.edu	37	6	90097037	90097037	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:90097037G>A	ENST00000369415.4	-	2	697	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	RRAGD_ENST00000359203.3_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		ACAAATATCAGTGCTCCTGTT	0.473																																																	0			6											109.0	104.0	106.0					6																	90097037		2203	4300	6503	90153756	SO:0001819	synonymous_variant	58528			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.421C>T	6.37:g.90097037G>A			90153756		Silent	SNP	ENST00000369415.4	37	CCDS5022.1																																																																																				0.473	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244	
GJA10	84694	hgsc.bcm.edu	37	6	90604469	90604469	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:90604469C>T	ENST00000369352.1	+	1	282	c.282C>T	c.(280-282)ggC>ggT	p.G94G		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	94					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTATATGGGCCATGCACTTT	0.443																																																	0			6											102.0	88.0	93.0					6																	90604469		2203	4300	6503	90661190	SO:0001819	synonymous_variant	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.282C>T	6.37:g.90604469C>T			90661190	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000369352.1	37	CCDS5025.1																																																																																				0.443	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602	
MANEA	79694	hgsc.bcm.edu	37	6	96053716	96053716	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:96053716C>A	ENST00000358812.4	+	5	958	c.824C>A	c.(823-825)cCt>cAt	p.P275H	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	275	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATTACCAAGCCTGAAAAATGG	0.403																																																	0			6											116.0	112.0	113.0					6																	96053716		2203	4300	6503	96160437	SO:0001583	missense	79694			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.824C>A	6.37:g.96053716C>A	ENSP00000351669:p.Pro275His		96160437	A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349973	0.61183	.	.	ENSG00000172469	ENST00000358812	D	0.91996	-2.95	6.16	5.3	0.74995	.	0.148484	0.64402	D	0.000007	D	0.94896	0.8350	M	0.83953	2.67	0.54753	D	0.999985	D	0.61697	0.99	P	0.60473	0.875	D	0.95019	0.8159	10	0.54805	T	0.06	-9.3726	16.9401	0.86215	0.0:0.8724:0.1276:0.0	.	275	Q5SRI9	MANEA_HUMAN	H	275	ENSP00000351669:P275H	ENSP00000351669:P275H	P	+	2	0	MANEA	96160437	1.000000	0.71417	0.921000	0.36526	0.506000	0.33950	5.700000	0.68318	1.635000	0.50512	-0.133000	0.14855	CCT		0.403	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641	
KLHL32	114792	hgsc.bcm.edu	37	6	97562260	97562260	+	Missense_Mutation	SNP	G	G	A	rs150244885		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:97562260G>A	ENST00000369261.4	+	7	1592	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	KLHL32_ENST00000536676.1_Missense_Mutation_p.R374H|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.R341H	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	410										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AATGAACTGCGCCAGGTTCTG	0.498																																																	0			6						G	HIS/ARG	0,4406		0,0,2203	66.0	58.0	61.0		1229	5.7	1.0	6	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLHL32	NM_052904.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	410/621	97562260	1,13005	2203	4300	6503	97668981	SO:0001583	missense	114792			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1229G>A	6.37:g.97562260G>A	ENSP00000358265:p.Arg410His		97668981	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569826	0.86439	0.0	1.16E-4	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.77229	-1.08;-1.08;-1.08	5.65	5.65	0.86999	Kelch-type beta propeller (1);	0.044535	0.85682	D	0.000000	T	0.79890	0.4524	L	0.31926	0.97	0.80722	D	1	D;D;B;D	0.89917	1.0;0.972;0.003;0.998	D;P;B;P	0.65874	0.939;0.786;0.01;0.896	T	0.79167	-0.1915	10	0.51188	T	0.08	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	341;374;410;410	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	H	410;374;341	ENSP00000358265:R410H;ENSP00000440382:R374H;ENSP00000441527:R341H	ENSP00000358265:R410H	R	+	2	0	KLHL32	97668981	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.229000	0.95273	2.941000	0.99782	0.655000	0.94253	CGC		0.498	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	
SIM1	6492	hgsc.bcm.edu	37	6	100838725	100838725	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:100838725A>G	ENST00000369208.3	-	12	2595	c.1813T>C	c.(1813-1815)Tgt>Cgt	p.C605R	SIM1_ENST00000262901.4_Missense_Mutation_p.C605R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	605	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.C605S(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTTGCAAAACACAGGGAGTGT	0.488																																																	1	Substitution - Missense(1)	ovary(1)	6											78.0	80.0	79.0					6																	100838725		2203	4300	6503	100945446	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1813T>C	6.37:g.100838725A>G	ENSP00000358210:p.Cys605Arg		100945446	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555142	0.45487	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03831	3.79;3.79	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.01940	0.0061	N	0.19112	0.55	0.80722	D	1	P	0.34412	0.453	B	0.30316	0.114	T	0.53739	-0.8396	10	0.59425	D	0.04	.	16.1986	0.82053	1.0:0.0:0.0:0.0	.	605	P81133	SIM1_HUMAN	R	605	ENSP00000358210:C605R;ENSP00000262901:C605R	ENSP00000262901:C605R	C	-	1	0	SIM1	100945446	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.912000	0.63335	2.227000	0.72691	0.455000	0.32223	TGT		0.488	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
WASF1	8936	hgsc.bcm.edu	37	6	110423411	110423411	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:110423411G>A	ENST00000392589.1	-	10	1738	c.902C>T	c.(901-903)aCa>aTa	p.T301I	WASF1_ENST00000392586.1_Missense_Mutation_p.T301I|WASF1_ENST00000392588.1_Missense_Mutation_p.T301I|WASF1_ENST00000392587.2_Missense_Mutation_p.T301I|WASF1_ENST00000359451.2_Missense_Mutation_p.T301I	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	301					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TATCAAACCTGTAGCAGAACT	0.433																																																	0			6											103.0	99.0	101.0					6																	110423411		2203	4300	6503	110530104	SO:0001583	missense	8936			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.902C>T	6.37:g.110423411G>A	ENSP00000376368:p.Thr301Ile		110530104	E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790423	0.70337	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.64	5.64	0.86602	.	0.305475	0.35407	N	0.003228	T	0.18425	0.0442	N	0.14661	0.345	0.43647	D	0.996056	B	0.14438	0.01	B	0.12156	0.007	T	0.03000	-1.1084	10	0.37606	T	0.19	.	19.7561	0.96291	0.0:0.0:1.0:0.0	.	301	Q92558	WASF1_HUMAN	I	301	ENSP00000376365:T301I;ENSP00000376366:T301I;ENSP00000376368:T301I;ENSP00000376367:T301I;ENSP00000352425:T301I	ENSP00000352425:T301I	T	-	2	0	WASF1	110530104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.154000	0.94694	2.672000	0.90937	0.539000	0.68188	ACA		0.433	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931	
HS3ST5	222537	hgsc.bcm.edu	37	6	114379277	114379277	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:114379277T>C	ENST00000312719.5	-	5	1373	c.185A>G	c.(184-186)cAg>cGg	p.Q62R	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.Q62R|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	62					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ACGCTTAAACTGCAGGGCGCG	0.587																																																	0			6											38.0	35.0	36.0					6																	114379277		2203	4300	6503	114485970	SO:0001583	missense	222537			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.185A>G	6.37:g.114379277T>C	ENSP00000427888:p.Gln62Arg		114485970	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.927431	0.34002	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.46451	0.87;0.87	5.77	5.77	0.91146	.	0.115717	0.64402	D	0.000012	T	0.32255	0.0823	N	0.19112	0.55	0.52501	D	0.999958	P	0.39094	0.659	P	0.55391	0.775	T	0.17899	-1.0354	10	0.15499	T	0.54	.	16.383	0.83481	0.0:0.0:0.0:1.0	.	62	Q8IZT8	HS3S5_HUMAN	R	62	ENSP00000427888:Q62R;ENSP00000440332:Q62R	ENSP00000427888:Q62R	Q	-	2	0	HS3ST5	114485970	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	7.231000	0.78106	2.326000	0.78906	0.533000	0.62120	CAG		0.587	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612	
GOPC	57120	hgsc.bcm.edu	37	6	117884480	117884480	+	Silent	SNP	C	C	T	rs146035577		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:117884480C>T	ENST00000368498.2	-	9	1401	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	GOPC_ENST00000535237.1_Silent_p.P442P|GOPC_ENST00000467125.1_Intron|GOPC_ENST00000052569.6_Silent_p.P434P|DCBLD1_ENST00000296955.8_Intron	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	442					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CGTCATCTAGCGGAGTTTCAC	0.368			O	ROS1	glioblastoma								C|||	1	0.000199681	0.0	0.0014	5008	,	,		18881	0.0		0.0	False		,,,				2504	0.0							Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	0			6						C	,,	0,4406		0,0,2203	149.0	139.0	142.0		1302,1326,	-11.6	0.0	6	dbSNP_134	142	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,intron	GOPC,DCBLD1	NM_001017408.2,NM_020399.3,NM_173674.1	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	434/455,442/463,	117884480	3,13003	2203	4300	6503	117991173	SO:0001819	synonymous_variant	57120			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.1326G>A	6.37:g.117884480C>T			117991173	A6NM30|Q59FS4|Q969U8	Silent	SNP	ENST00000368498.2	37	CCDS5117.1																																																																																				0.368	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399	
PTPRK	5796	hgsc.bcm.edu	37	6	128294818	128294818	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:128294818A>T	ENST00000368215.3	-	28	4120	c.4121T>A	c.(4120-4122)aTc>aAc	p.I1374N	PTPRK_ENST00000368207.3_Missense_Mutation_p.I1407N|PTPRK_ENST00000368210.3_Missense_Mutation_p.I1393N|PTPRK_ENST00000532331.1_Missense_Mutation_p.I1397N|PTPRK_ENST00000368226.4_Missense_Mutation_p.I1375N|PTPRK_ENST00000368213.5_Missense_Mutation_p.I1381N|PTPRK_ENST00000368227.3_Missense_Mutation_p.I1392N			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1374	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CAGGCAGTGGATAATCGTCCG	0.478																																																	0			6											113.0	99.0	104.0					6																	128294818		2203	4300	6503	128336511	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4121T>A	6.37:g.128294818A>T	ENSP00000357198:p.Ile1374Asn		128336511	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	A	28.5	4.927180	0.92389	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.054664	0.64402	D	0.000001	T	0.27866	0.0686	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.55385	0.971;0.964;0.971;0.965	P;P;P;P	0.58331	0.808;0.709;0.837;0.748	T	0.02417	-1.1162	10	0.87932	D	0	.	16.1614	0.81721	1.0:0.0:0.0:0.0	.	1397;1381;1374;1375	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	N	1375;1392;1397;1381;1393;1374;1407	ENSP00000357209:I1375N;ENSP00000357210:I1392N;ENSP00000432973:I1397N;ENSP00000357196:I1381N;ENSP00000357193:I1393N;ENSP00000357198:I1374N;ENSP00000357190:I1407N	ENSP00000357190:I1407N	I	-	2	0	PTPRK	128336511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.284000	0.95882	2.219000	0.72066	0.533000	0.62120	ATC		0.478	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
PTPRK	5796	hgsc.bcm.edu	37	6	128326362	128326362	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:128326362G>A	ENST00000368215.3	-	15	2357	c.2358C>T	c.(2356-2358)gcC>gcT	p.A786A	PTPRK_ENST00000368207.3_Silent_p.A797A|PTPRK_ENST00000368210.3_Silent_p.A787A|PTPRK_ENST00000532331.1_Silent_p.A787A|PTPRK_ENST00000368226.4_Silent_p.A787A|PTPRK_ENST00000368213.5_Silent_p.A787A|PTPRK_ENST00000368227.3_Silent_p.A787A|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	786					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATTCCCCATGGCATCTTTGC	0.453																																																	0			6											89.0	74.0	79.0					6																	128326362		2203	4299	6502	128368055	SO:0001819	synonymous_variant	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2358C>T	6.37:g.128326362G>A			128368055	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	G	7.715	0.695950	0.15106	.	.	ENSG00000152894	ENST00000415046	.	.	.	5.87	-9.38	0.00623	.	.	.	.	.	T	0.33177	0.0854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56044	-0.8044	4	.	.	.	.	10.3092	0.43699	0.1004:0.0:0.5666:0.333	.	.	.	.	L	68	.	.	P	-	2	0	PTPRK	128368055	0.765000	0.28485	0.298000	0.25002	0.995000	0.86356	-0.180000	0.09754	-1.914000	0.01078	-0.157000	0.13467	CCA		0.453	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
MYB	4602	hgsc.bcm.edu	37	6	135521306	135521306	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:135521306A>G	ENST00000367814.4	+	11	1616	c.1430A>G	c.(1429-1431)cAa>cGa	p.Q477R	MYB_ENST00000341911.5_Missense_Mutation_p.Q598R|MYB_ENST00000534044.1_Missense_Mutation_p.Q477R|MYB_ENST00000528774.1_Missense_Mutation_p.Q595R|MYB_ENST00000442647.2_Missense_Mutation_p.Q474R|MYB_ENST00000525369.1_Missense_Mutation_p.Q392R|MYB_ENST00000316528.8_Missense_Mutation_p.Q477R|MYB_ENST00000527615.1_Missense_Mutation_p.Q477R|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.Q582R|MYB_ENST00000533624.1_Missense_Mutation_p.Q442R	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	477					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|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)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTTGCAGCTCAAGAAATTAAA	0.363			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0			6											93.0	98.0	96.0					6																	135521306		2203	4300	6503	135562999	SO:0001583	missense	4602				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1430A>G	6.37:g.135521306A>G	ENSP00000356788:p.Gln477Arg		135562999	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078246	0.76528	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.8	5.8	0.92144	C-myb, C-terminal (1);	0.109871	0.64402	D	0.000002	T	0.53417	0.1795	M	0.75777	2.31	0.40590	D	0.981475	P;P;P;D;D;D;D;D;P	0.76494	0.863;0.863;0.763;0.996;0.994;0.999;0.995;0.975;0.863	P;P;B;D;D;D;D;P;P	0.87578	0.497;0.697;0.382;0.994;0.988;0.998;0.99;0.856;0.697	T	0.57825	-0.7744	10	0.54805	T	0.06	-13.0562	16.1461	0.81569	1.0:0.0:0.0:0.0	.	442;477;474;595;392;582;598;477;477	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	R	598;474;477;477;477;477;392;595;582;477;442	ENSP00000339992:Q598R;ENSP00000410825:Q474R;ENSP00000326328:Q477R;ENSP00000356788:Q477R;ENSP00000433227:Q477R;ENSP00000435938:Q392R;ENSP00000434723:Q595R;ENSP00000432851:Q582R;ENSP00000435055:Q477R;ENSP00000436605:Q442R	ENSP00000237302:Q477R	Q	+	2	0	MYB	135562999	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.715000	0.91416	2.219000	0.72066	0.533000	0.62120	CAA		0.363	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4		
IL20RA	53832	hgsc.bcm.edu	37	6	137330519	137330519	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:137330519T>C	ENST00000316649.5	-	4	749	c.514A>G	c.(514-516)Atg>Gtg	p.M172V	IL20RA_ENST00000367748.1_Missense_Mutation_p.M61V|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367746.3_Missense_Mutation_p.M172V|IL20RA_ENST00000541547.1_Missense_Mutation_p.M123V	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	172	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		ATTTGTTGCATGGAAACAGGA	0.433																																																	0			6											204.0	189.0	194.0					6																	137330519		2203	4300	6503	137372212	SO:0001583	missense	53832			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.514A>G	6.37:g.137330519T>C	ENSP00000314976:p.Met172Val		137372212	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691768	0.48097	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547;ENST00000367746	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.92	4.75	0.60458	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.337690	0.35739	N	0.003011	T	0.42698	0.1214	M	0.79475	2.455	0.35188	D	0.773127	D;P	0.71674	0.998;0.906	D;P	0.76071	0.987;0.542	T	0.52170	-0.8611	10	0.52906	T	0.07	-16.4203	10.6339	0.45554	0.0:0.0:0.3082:0.6918	.	61;172	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	V	172;61;123;172	ENSP00000314976:M172V;ENSP00000356722:M61V;ENSP00000437843:M123V;ENSP00000356720:M172V	ENSP00000314976:M172V	M	-	1	0	IL20RA	137372212	1.000000	0.71417	0.998000	0.56505	0.763000	0.43281	1.574000	0.36482	1.064000	0.40671	0.528000	0.53228	ATG		0.433	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432	
SHPRH	257218	hgsc.bcm.edu	37	6	146276446	146276446	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:146276446G>A	ENST00000367505.2	-	2	277	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	SHPRH_ENST00000367503.3_Missense_Mutation_p.R5W|SHPRH_ENST00000275233.7_Missense_Mutation_p.R5W|SHPRH_ENST00000438092.2_Missense_Mutation_p.R5W			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	5					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GCACGTTTCCGTCGGCTGCTC	0.423																																																	0			6											118.0	114.0	115.0					6																	146276446		1929	4140	6069	146318139	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.13C>T	6.37:g.146276446G>A	ENSP00000356475:p.Arg5Trp		146318139	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047594	0.55110	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.66	2.82	0.32997	.	0.000000	0.64402	D	0.000002	T	0.72961	0.3526	M	0.61703	1.905	0.47214	D	0.999352	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76873	-0.2798	10	0.87932	D	0	-21.543	16.2659	0.82579	0.0:0.0:0.5512:0.4488	.	5;5;5	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	W	5	ENSP00000356475:R5W;ENSP00000356473:R5W;ENSP00000412797:R5W;ENSP00000275233:R5W	ENSP00000275233:R5W	R	-	1	2	SHPRH	146318139	0.973000	0.33851	0.944000	0.38274	0.723000	0.41478	1.724000	0.38064	0.036000	0.15547	-0.808000	0.03180	CGG		0.423	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
GRM1	2911	hgsc.bcm.edu	37	6	146755713	146755713	+	Silent	SNP	C	C	T	rs138460952		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:146755713C>T	ENST00000282753.1	+	8	3601	c.3366C>T	c.(3364-3366)gaC>gaT	p.D1122D	GRM1_ENST00000361719.2_Silent_p.D1122D|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1122	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGGAAGAAGACGAACTGGAAG	0.637																																																	0			6											63.0	70.0	67.0					6																	146755713		2203	4300	6503	146797406	SO:0001819	synonymous_variant	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3366C>T	6.37:g.146755713C>T			146797406	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																				0.637	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
ADGB	79747	hgsc.bcm.edu	37	6	147042581	147042581	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:147042581C>A	ENST00000397944.3	+	17	2111	c.2035C>A	c.(2035-2037)Cta>Ata	p.L679I	ADGB_ENST00000367493.3_Missense_Mutation_p.L98I	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	679					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						TGTAGATAGTCTAAAACCTAT	0.388																																																	0			6											229.0	209.0	215.0					6																	147042581		692	1591	2283	147084274	SO:0001583	missense	79747			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.2035C>A	6.37:g.147042581C>A	ENSP00000381036:p.Leu679Ile		147084274	Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	ENST00000397944.3	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.127372	0.77549	.	.	ENSG00000118492	ENST00000397944;ENST00000367493	T	0.43688	0.94	5.69	4.83	0.62350	.	0.748735	0.12079	N	0.501497	T	0.49406	0.1555	M	0.72894	2.215	0.32583	N	0.528226	D	0.71674	0.998	D	0.70716	0.97	T	0.53961	-0.8364	10	0.87932	D	0	-9.8674	8.8535	0.35214	0.0:0.8311:0.0:0.1689	.	679	Q8N7X0	CAN7L_HUMAN	I	679;98	ENSP00000381036:L679I	ENSP00000356463:L98I	L	+	1	2	C6orf103	147084274	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.087000	0.14958	1.413000	0.46997	0.655000	0.94253	CTA		0.388	ADGB-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376350.2	NM_024694	
SASH1	23328	hgsc.bcm.edu	37	6	148865342	148865342	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:148865342G>T	ENST00000367467.3	+	18	3211	c.2736G>T	c.(2734-2736)gaG>gaT	p.E912D		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	912					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGAAACTGGAGGGCTCAATCG	0.522																																																	0			6											85.0	98.0	94.0					6																	148865342		2203	4300	6503	148907035	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2736G>T	6.37:g.148865342G>T	ENSP00000356437:p.Glu912Asp		148907035	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156426	0.01686	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.36340	1.26	5.03	-10.1	0.00402	.	1.127930	0.06438	N	0.725354	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08472	-1.0720	10	0.14252	T	0.57	-0.0969	7.8789	0.29610	0.1275:0.3227:0.4687:0.0811	.	893;912	Q6P4R9;O94885	.;SASH1_HUMAN	D	912;673;322	ENSP00000356437:E912D	ENSP00000356437:E912D	E	+	3	2	SASH1	148907035	0.000000	0.05858	0.000000	0.03702	0.681000	0.39784	-2.925000	0.00691	-5.218000	0.00019	-0.188000	0.12872	GAG		0.522	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
PPP1R14C	81706	hgsc.bcm.edu	37	6	150569938	150569938	+	Silent	SNP	G	G	A	rs372465064		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:150569938G>A	ENST00000361131.4	+	4	597	c.480G>A	c.(478-480)ccG>ccA	p.P160P		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	160					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TGAGCCCTCCGCAGAAGAAGA	0.403																																					Melanoma(165;1879 1941 2052 16588 48349)												0			6						G		2,4404	4.2+/-10.8	0,2,2201	54.0	55.0	54.0		480	-11.2	0.7	6		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PPP1R14C	NM_030949.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		160/166	150569938	3,13003	2203	4300	6503	150611631	SO:0001819	synonymous_variant	81706			AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14952	protein-coding gene	gene with protein product	"""kinase C-enhanced PP1 inhibitor"""	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.480G>A	6.37:g.150569938G>A			150611631	Q5VY83|Q96BB1|Q9H277	Silent	SNP	ENST00000361131.4	37	CCDS5226.1																																																																																				0.403	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949	
ESR1	2099	hgsc.bcm.edu	37	6	152163847	152163847	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:152163847G>A	ENST00000206249.3	+	2	930	c.568G>A	c.(568-570)Gac>Aac	p.D190N	ESR1_ENST00000443427.1_Missense_Mutation_p.D190N|ESR1_ENST00000427531.2_Missense_Mutation_p.D17N|ESR1_ENST00000440973.1_Missense_Mutation_p.D190N|ESR1_ENST00000456483.2_Missense_Mutation_p.D190N|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.D190N	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	190	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	AGTGTGCAATGACTATGCTTC	0.488																																																	0			6											143.0	124.0	130.0					6																	152163847		2203	4300	6503	152205540	SO:0001583	missense	2099			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.568G>A	6.37:g.152163847G>A	ENSP00000206249:p.Asp190Asn		152205540	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.533378|5.533378	0.96460|0.96460	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000347491;ENST00000431590;ENST00000544394|ENST00000427531	D;D;D;D;D;D|.	0.98329|.	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82774|0.82774	0.5110|0.5110	M|M	0.87097|0.87097	2.86|2.86	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	T|T	0.82810|0.82810	-0.0273|-0.0273	10|5	0.87932|.	D|.	0|.	.|.	20.6525|20.6525	0.99598|0.99598	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	190;190;190|.	A8KAF4;G4XH65;P03372|.	.;.;ESR1_HUMAN|.	N|I	190;190;190;190;190;15;118;17|94	ENSP00000405330:D190N;ENSP00000342630:D190N;ENSP00000415934:D190N;ENSP00000387500:D190N;ENSP00000206249:D190N;ENSP00000445454:D17N|.	ENSP00000206249:D190N|.	D|M	+|+	1|3	0|0	ESR1|ESR1	152205540|152205540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.869000|9.869000	0.99810|0.99810	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	GAC|ATG		0.488	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
SYNE1	23345	hgsc.bcm.edu	37	6	152639316	152639316	+	Missense_Mutation	SNP	C	C	T	rs530429418		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:152639316C>T	ENST00000367255.5	-	86	17073	c.16472G>A	c.(16471-16473)gGc>gAc	p.G5491D	SYNE1_ENST00000356820.4_Missense_Mutation_p.G15D|SYNE1_ENST00000448038.1_Missense_Mutation_p.G5420D|SYNE1_ENST00000423061.1_Missense_Mutation_p.G5420D|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5491D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5491					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCCAGTTGGCCATTCTGTTC	0.443										HNSCC(10;0.0054)																																							0			6											201.0	176.0	184.0					6																	152639316		2203	4300	6503	152681009	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16472G>A	6.37:g.152639316C>T	ENSP00000356224:p.Gly5491Asp		152681009	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823208	0.32237	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000356820	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.66	3.87	0.44632	.	0.520576	0.18799	N	0.130837	T	0.06600	0.0169	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.32071	0.118;0.112;0.112;0.355	B;B;B;B	0.21360	0.034;0.015;0.015;0.031	T	0.28267	-1.0049	10	0.12430	T	0.62	.	2.8755	0.05629	0.1415:0.4685:0.2441:0.1458	.	5491;5491;5491;5420	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	5491;5420;5491;5420;15	ENSP00000356224:G5491D;ENSP00000396024:G5420D;ENSP00000265368:G5491D;ENSP00000390975:G5420D;ENSP00000349276:G15D	ENSP00000265368:G5491D	G	-	2	0	SYNE1	152681009	0.000000	0.05858	0.154000	0.22540	0.860000	0.49131	0.470000	0.22084	0.723000	0.32274	0.655000	0.94253	GGC		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TIAM2	26230	hgsc.bcm.edu	37	6	155578072	155578072	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:155578072C>T	ENST00000461783.3	+	29	6196	c.4923C>T	c.(4921-4923)agC>agT	p.S1641S	RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000318981.5_Silent_p.S1641S|TIAM2_ENST00000456877.2_Silent_p.S953S|TIAM2_ENST00000360366.4_Silent_p.S1665S|TIAM2_ENST00000528391.2_Silent_p.S985S|TIAM2_ENST00000456144.1_Silent_p.S1670S|TIAM2_ENST00000529824.2_Silent_p.S1670S|TIAM2_ENST00000367174.2_Silent_p.S1017S|TIAM2_ENST00000275246.7_Silent_p.S566S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1641					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAGCCAACAGCACCAAGAGGG	0.557																																																	0			6											68.0	64.0	65.0					6																	155578072		2203	4300	6503	155619764	SO:0001819	synonymous_variant	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4923C>T	6.37:g.155578072C>T			155619764	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.557	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
TFB1M	51106	hgsc.bcm.edu	37	6	155579134	155579134	+	Missense_Mutation	SNP	G	G	A	rs368405074		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:155579134G>A	ENST00000367166.4	-	7	932	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	RP11-477D19.2_ENST00000435295.1_RNA	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.R293S(1)		lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		GAGAGCTGGCGGGGCCGAAGA	0.478																																																	1	Substitution - Missense(1)	lung(1)	6						G	CYS/ARG	0,4406		0,0,2203	114.0	124.0	120.0		877	-6.1	0.0	6		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	TFB1M	NM_016020.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	293/347	155579134	1,13005	2203	4300	6503	155620826	SO:0001583	missense	51106			AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.877C>T	6.37:g.155579134G>A	ENSP00000356134:p.Arg293Cys		155620826	Q05DR0|Q9Y384	Missense_Mutation	SNP	ENST00000367166.4	37	CCDS5248.1	.	.	.	.	.	.	.	.	.	.	G	6.564	0.472395	0.12461	0.0	1.16E-4	ENSG00000029639	ENST00000367166	T	0.30714	1.52	5.91	-6.1	0.02138	rRNA adenine dimethylase-like (1);	1.357460	0.04419	N	0.367238	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26430	-1.0103	10	0.44086	T	0.13	0.2086	0.3051	0.00279	0.2783:0.1584:0.2475:0.3158	.	293	Q8WVM0	TFB1M_HUMAN	C	293	ENSP00000356134:R293C	ENSP00000356134:R293C	R	-	1	0	TFB1M	155620826	0.000000	0.05858	0.017000	0.16124	0.038000	0.13279	-0.881000	0.04179	-0.688000	0.05155	-1.104000	0.02111	CGC		0.478	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1		
ARID1B	57492	hgsc.bcm.edu	37	6	157528201	157528201	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:157528201G>A	ENST00000350026.5	+	19	5888	c.5887G>A	c.(5887-5889)Ggg>Agg	p.G1963R	ARID1B_ENST00000275248.4_Missense_Mutation_p.G1958R|ARID1B_ENST00000367148.1_Missense_Mutation_p.G2016R|ARID1B_ENST00000346085.5_Missense_Mutation_p.G1976R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1963					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCTGATCCTGGGGAAGCTGAT	0.527																																																	0			6											110.0	111.0	111.0					6																	157528201		2203	4296	6499	157569893	SO:0001583	missense	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5887G>A	6.37:g.157528201G>A	ENSP00000055163:p.Gly1963Arg		157569893	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300750	0.60195	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.28	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	M	0.83483	2.645	0.80722	D	1	P;P;P	0.48350	0.909;0.889;0.889	P;B;B	0.47015	0.534;0.399;0.399	T	0.64437	-0.6408	10	0.87932	D	0	.	14.2606	0.66083	0.072:0.0:0.928:0.0	.	1963;1976;1958	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	1976;1963;2016;1958;1485	ENSP00000344546:G1976R;ENSP00000055163:G1963R;ENSP00000356116:G2016R;ENSP00000275248:G1958R;ENSP00000412835:G1485R	ENSP00000275248:G1958R	G	+	1	0	ARID1B	157569893	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	1.360000	0.45960	0.563000	0.77884	GGG		0.527	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
TAGAP	117289	hgsc.bcm.edu	37	6	159457199	159457199	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:159457199G>A	ENST00000367066.3	-	10	2187	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M	RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.T441M|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	619					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCTCCCCACCGTCATGCTCCC	0.642																																																	0			6											53.0	52.0	53.0					6																	159457199		2203	4300	6503	159377187	SO:0001583	missense	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1856C>T	6.37:g.159457199G>A	ENSP00000356033:p.Thr619Met		159377187	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238583	0.58886	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.20881	2.04;2.26	2.76	2.76	0.32466	.	.	.	.	.	T	0.36220	0.0959	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.43621	-0.9380	9	0.87932	D	0	-26.3246	13.8482	0.63481	0.0:0.0:1.0:0.0	.	619	Q8N103	TAGAP_HUMAN	M	619;441	ENSP00000356033:T619M;ENSP00000322650:T441M	ENSP00000322650:T441M	T	-	2	0	TAGAP	159377187	1.000000	0.71417	0.760000	0.31359	0.096000	0.18686	8.088000	0.89523	1.465000	0.48006	0.563000	0.77884	ACG		0.642	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	
LPA	4018	hgsc.bcm.edu	37	6	161026186	161026186	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:161026186T>C	ENST00000316300.5	-	18	2881	c.2837A>G	c.(2836-2838)cAg>cGg	p.Q946R	LPA_ENST00000447678.1_Missense_Mutation_p.Q946R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3454	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGATAACTCTGTCCATTTCC	0.468																																																	0			6											302.0	313.0	309.0					6																	161026186		2203	4300	6503	160946176	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2837A>G	6.37:g.161026186T>C	ENSP00000321334:p.Gln946Arg		160946176	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	0.048	-1.260207	0.01445	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.66099	-0.19;-0.19	2.16	2.16	0.27623	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.30510	0.0767	N	0.21240	0.645	0.09310	N	1	P	0.47545	0.897	P	0.48488	0.579	T	0.05257	-1.0896	9	0.19590	T	0.45	.	6.2159	0.20656	0.0:0.0:0.0:1.0	.	3454	P08519	APOA_HUMAN	R	946	ENSP00000321334:Q946R;ENSP00000395608:Q946R	ENSP00000321334:Q946R	Q	-	2	0	LPA	160946176	0.001000	0.12720	0.012000	0.15200	0.078000	0.17371	0.967000	0.29344	0.999000	0.39023	0.155000	0.16302	CAG		0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
MLLT4	4301	hgsc.bcm.edu	37	6	168352692	168352692	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:168352692A>G	ENST00000447894.2	+	29	4637	c.4637A>G	c.(4636-4638)aAa>aGa	p.K1546R	MLLT4_ENST00000366806.2_Missense_Mutation_p.K1546R|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1545R|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1546R|MLLT4_ENST00000392112.1_Missense_Mutation_p.K1529R|MLLT4_ENST00000392108.3_Missense_Mutation_p.K1546R|MLLT4_ENST00000351017.4_Missense_Mutation_p.K1553R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1546					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCCAGAGCAAACCGGACCGC	0.612			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0			6											50.0	54.0	52.0					6																	168352692		2203	4300	6503	168095541	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4637A>G	6.37:g.168352692A>G	ENSP00000404595:p.Lys1546Arg		168095541	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.492|9.492	1.101038|1.101038	0.20552|0.20552	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000507704;ENST00000476946	T;T;T;T;T;T;T|.	0.46819|.	3.76;0.9;3.75;0.9;0.9;0.86;0.9|.	5.34|5.34	1.64|1.64	0.23874|0.23874	.|.	0.114017|.	0.64402|.	N|.	0.000018|.	T|T	0.36441|0.36441	0.0967|0.0967	M|M	0.73962|0.73962	2.25|2.25	0.09310|0.09310	N|N	1|1	B;P;P;B|.	0.39131|.	0.15;0.661;0.547;0.22|.	B;B;B;B|.	0.35312|.	0.039;0.2;0.162;0.162|.	T|T	0.31696|0.31696	-0.9934|-0.9934	10|5	0.42905|.	T|.	0.14|.	-27.2154|-27.2154	8.5621|8.5621	0.33516|0.33516	0.7716:0.0:0.2284:0.0|0.7716:0.0:0.2284:0.0	.|.	1546;1545;1546;1530|.	P55196;P55196-5;P55196-6;P55196-2|.	AFAD_HUMAN;.;.;.|.	R|D	1546;1553;1546;1546;1529;1546;1545;1546|37;22	ENSP00000341118:K1546R;ENSP00000252692:K1553R;ENSP00000375956:K1546R;ENSP00000355771:K1546R;ENSP00000375960:K1529R;ENSP00000383623:K1545R;ENSP00000404595:K1546R|.	ENSP00000345834:K1546R|.	K|N	+|+	2|1	0|0	MLLT4|MLLT4	168095541|168095541	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.564000|0.564000	0.35744|0.35744	3.244000|3.244000	0.51399|0.51399	0.043000|0.043000	0.15746|0.15746	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.612	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
INPP5K	51763	hgsc.bcm.edu	37	17	1401315	1401315	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:1401315A>G	ENST00000421807.2	-	8	1266	c.878T>C	c.(877-879)tTc>tCc	p.F293S	INPP5K_ENST00000397335.3_Missense_Mutation_p.F201S|INPP5K_ENST00000542125.1_Missense_Mutation_p.F197S|INPP5K_ENST00000406424.4_Missense_Mutation_p.F217S|INPP5K_ENST00000320345.6_Missense_Mutation_p.F217S	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	293	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						AGACAAGGAGAAGTGTGACGC	0.607																																																	0			17											142.0	136.0	138.0					17																	1401315		2203	4300	6503	1348065	SO:0001583	missense	51763				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.878T>C	17.37:g.1401315A>G	ENSP00000413937:p.Phe293Ser		1348065	B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	ENST00000421807.2	37	CCDS11004.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.105232	0.56291	.	.	ENSG00000132376	ENST00000421807;ENST00000406424;ENST00000350761;ENST00000320345;ENST00000397335;ENST00000542125;ENST00000449479	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.53	5.53	0.82687	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.306737	0.38381	N	0.001703	T	0.80808	0.4694	L	0.33137	0.985	0.33636	D	0.606684	D;B	0.56287	0.975;0.002	P;B	0.55667	0.781;0.003	D	0.85944	0.1460	10	0.49607	T	0.09	-16.444	13.3184	0.60419	1.0:0.0:0.0:0.0	.	197;293	F5GXZ0;Q9BT40	.;INP5K_HUMAN	S	217;217;293;217;201;197;201	ENSP00000385177:F217S;ENSP00000318476:F217S;ENSP00000380496:F201S;ENSP00000440147:F197S;ENSP00000413259:F201S	ENSP00000318476:F217S	F	-	2	0	INPP5K	1348065	1.000000	0.71417	0.819000	0.32651	0.087000	0.18053	3.601000	0.54059	2.220000	0.72140	0.533000	0.62120	TTC		0.607	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4		
SGSM2	9905	hgsc.bcm.edu	37	17	2280079	2280079	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:2280079C>T	ENST00000426855.2	+	19	2702	c.2527C>T	c.(2527-2529)Ctg>Ttg	p.L843L	RP1-59D14.5_ENST00000574290.1_RNA|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000574563.1_Silent_p.L843L|SGSM2_ENST00000268989.3_Silent_p.L888L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	843	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTGCGATCTGCTGGCGCCTCT	0.627																																																	0			17											161.0	146.0	151.0					17																	2280079		2203	4300	6503	2226829	SO:0001819	synonymous_variant	9905			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2527C>T	17.37:g.2280079C>T			2226829	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	CCDS45570.1																																																																																				0.627	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853	
MNT	4335	hgsc.bcm.edu	37	17	2290383	2290383	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:2290383C>T	ENST00000174618.4	-	6	1966	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'Flank	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	521					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		AGGGTGTGGGCGATGTGGCTC	0.682																																																	0			17											36.0	38.0	37.0					17																	2290383		2191	4283	6474	2237133	SO:0001583	missense	4335			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1561G>A	17.37:g.2290383C>T	ENSP00000174618:p.Ala521Thr		2237133	A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257760	0.39896	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.82255	-1.59	4.91	4.91	0.64330	.	3.902500	0.01100	N	0.005343	T	0.70587	0.3241	N	0.11560	0.145	0.48571	D	0.99967	P	0.42375	0.778	B	0.26864	0.074	T	0.59768	-0.7392	10	0.28530	T	0.3	-15.9892	17.0679	0.86564	0.0:1.0:0.0:0.0	.	521	Q99583	MNT_HUMAN	T	521	ENSP00000174618:A521T	ENSP00000174618:A521T	A	-	1	0	MNT	2237133	0.993000	0.37304	0.987000	0.45799	0.985000	0.73830	2.968000	0.49224	2.274000	0.75844	0.591000	0.81541	GCC		0.682	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310	
TRPV1	7442	hgsc.bcm.edu	37	17	3495606	3495606	+	Silent	SNP	C	C	T	rs201154250	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:3495606C>T	ENST00000571088.1	-	2	252	c.39G>A	c.(37-39)gcG>gcA	p.A13A	TRPV1_ENST00000425167.2_Silent_p.A13A|TRPV1_ENST00000399756.4_Silent_p.A13A|SHPK_ENST00000572705.1_Silent_p.A13A|TRPV1_ENST00000399759.3_Silent_p.A13A|TRPV1_ENST00000174621.6_5'UTR|TRPV1_ENST00000310522.5_Silent_p.A13A|TRPV1_ENST00000576351.1_Silent_p.A13A	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	13					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)	GGAGTGGGTCCGCAGCTGCCC	0.632													C|||	5	0.000998403	0.0	0.0	5008	,	,		17190	0.001		0.0	False		,,,				2504	0.0041				Melanoma(38;962 1762 15789)												0			17						C	,,,	1,4169		0,1,2084	42.0	46.0	45.0		39,39,39,39	4.0	0.4	17		45	0,8438		0,0,4219	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPV1	NM_018727.5,NM_080704.3,NM_080705.3,NM_080706.3	,,,	0,1,6303	TT,TC,CC		0.0,0.024,0.0079	,,,	13/840,13/840,13/840,13/840	3495606	1,12607	2085	4219	6304	3442355	SO:0001819	synonymous_variant	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.39G>A	17.37:g.3495606C>T			3442355	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	CCDS45576.1																																																																																				0.632	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	
MINK1	50488	hgsc.bcm.edu	37	17	4789438	4789438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:4789438C>T	ENST00000355280.6	+	9	914	c.718C>T	c.(718-720)Cga>Tga	p.R240*	RN7SL784P_ENST00000577319.1_RNA|MINK1_ENST00000453408.3_Nonsense_Mutation_p.R240*|MINK1_ENST00000347992.7_Nonsense_Mutation_p.R240*	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCACCCCATGCGAGCCCTCTT	0.607																																																	0			17											79.0	85.0	83.0					17																	4789438		2068	4206	6274	4730221	SO:0001587	stop_gained	50488			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.718C>T	17.37:g.4789438C>T	ENSP00000347427:p.Arg240*		4730221		Silent	SNP	ENST00000355280.6	37	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	C	37	6.310772	0.97462	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7959	0.46459	0.189:0.811:0.0:0.0	.	.	.	.	X	240	.	ENSP00000269296:R240X	R	+	1	2	MINK1	4730221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.553000	0.36255	2.680000	0.91292	0.561000	0.74099	CGA		0.607	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716	
CHRNE	1145	hgsc.bcm.edu	37	17	4799330	4799330	+	IGR	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:4799330G>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.A1113T|MINK1_ENST00000347992.7_Missense_Mutation_p.A1104T|MINK1_ENST00000355280.6_Missense_Mutation_p.A1133T	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	CCTGGTCATCGCCCTCAAGAG	0.587											OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			17											52.0	56.0	55.0					17																	4799330		1971	4145	6116	4740106	SO:0001628	intergenic_variant	50488			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4799330G>A		621	4740106	D3DTK6	Silent	SNP	ENST00000293780.4	37	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024588	0.93518	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.09163	3.01;3.01;3.01	4.41	4.41	0.53225	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74348	0.978;0.982;0.983;0.982	T	0.33624	-0.9861	10	0.87932	D	0	.	14.8844	0.70557	0.0:0.0:1.0:0.0	.	1096;1113;1133;1104	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	T	1133;1113;1104;93	ENSP00000347427:A1133T;ENSP00000406487:A1113T;ENSP00000269296:A1104T	ENSP00000269296:A1104T	A	+	1	0	MINK1	4740106	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.601000	0.98297	2.436000	0.82500	0.561000	0.74099	GCC		0.587	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3		
SLC52A1	55065	hgsc.bcm.edu	37	17	4937895	4937895	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:4937895C>A	ENST00000424747.1	-	2	719	c.7G>T	c.(7-9)Gca>Tca	p.A3S	SLC52A1_ENST00000512825.2_Missense_Mutation_p.A3S|SLC52A1_ENST00000254853.5_Missense_Mutation_p.A3S	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	3					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										AGCGTGGGTGCTGCCATTCAG	0.602																																																	0			17											46.0	47.0	47.0					17																	4937895		2203	4300	6503	4878619	SO:0001583	missense	55065			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.7G>T	17.37:g.4937895C>A	ENSP00000399979:p.Ala3Ser		4878619	B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042124	0.55003	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.76448	-1.02;-0.84;-1.02	1.92	-0.728	0.11162	.	0.591655	0.16928	N	0.193794	T	0.77143	0.4087	L	0.37630	1.12	0.21782	N	0.999546	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.66156	-0.5994	10	0.27785	T	0.31	.	7.1041	0.25354	0.4698:0.5302:0.0:0.0	.	3;3	F5H5Y1;Q9NWF4	.;RFT_HUMAN	S	3	ENSP00000254853:A3S;ENSP00000443026:A3S;ENSP00000399979:A3S	ENSP00000254853:A3S	A	-	1	0	GPR172B	4878619	0.975000	0.34042	0.765000	0.31456	0.846000	0.48090	2.709000	0.47160	-0.115000	0.11915	0.650000	0.86243	GCA		0.602	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986	
PITPNM3	83394	hgsc.bcm.edu	37	17	6377871	6377871	+	Missense_Mutation	SNP	G	G	A	rs536434931		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:6377871G>A	ENST00000262483.8	-	10	1226	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	PITPNM3_ENST00000421306.3_Missense_Mutation_p.P344L|PITPNM3_ENST00000576664.1_5'Flank	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	380					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGGAGCTGCGGCCCCCCAGC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		16870	0.0		0.0	False		,,,				2504	0.001																0			17											24.0	22.0	23.0					17																	6377871		2190	4294	6484	6318595	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1139C>T	17.37:g.6377871G>A	ENSP00000262483:p.Pro380Leu		6318595	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	3.518	-0.098348	0.07010	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.42513	0.97;0.97	4.3	0.0455	0.14230	.	0.580061	0.19024	N	0.124755	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.19160	-1.0314	10	0.23302	T	0.38	.	7.9757	0.30153	0.3626:0.0:0.6374:0.0	.	344;380	F8WEW5;Q9BZ71	.;PITM3_HUMAN	L	380;344	ENSP00000262483:P380L;ENSP00000407882:P344L	ENSP00000262483:P380L	P	-	2	0	PITPNM3	6318595	0.987000	0.35691	0.000000	0.03702	0.004000	0.04260	2.471000	0.45127	-0.033000	0.13736	-0.244000	0.11960	CCG		0.672	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
BCL6B	255877	hgsc.bcm.edu	37	17	6930824	6930824	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:6930824C>T	ENST00000293805.5	+	9	1418	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	442					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						TCCCACAGTGCGACCCCTGTG	0.597																																																	0			17											38.0	45.0	42.0					17																	6930824		2073	4207	6280	6871548	SO:0001819	synonymous_variant	255877			AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1326C>T	17.37:g.6930824C>T			6871548	Q6PCB4	Silent	SNP	ENST00000293805.5	37	CCDS42248.1																																																																																				0.597	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844	
POLR2A	5430	hgsc.bcm.edu	37	17	7399270	7399270	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:7399270C>A	ENST00000322644.6	+	2	503	c.104C>A	c.(103-105)tCt>tAt	p.S35Y	POLR2A_ENST00000572844.1_Missense_Mutation_p.S35Y	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	35					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAGCGAATGTCTGTGACGGAG	0.567																																																	0			17											76.0	82.0	80.0					17																	7399270		2203	4300	6503	7339994	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.104C>A	17.37:g.7399270C>A	ENSP00000314949:p.Ser35Tyr		7339994	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160163	0.78226	.	.	ENSG00000181222	ENST00000322644	T	0.46063	0.88	5.33	5.33	0.75918	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.79203	0.4406	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.87694	0.2556	10	0.87932	D	0	.	17.783	0.88529	0.0:1.0:0.0:0.0	.	35;35	P24928;Q6NX41	RPB1_HUMAN;.	Y	35	ENSP00000314949:S35Y	ENSP00000314949:S35Y	S	+	2	0	SLC35G6	7339994	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.142000	0.77339	2.499000	0.84300	0.467000	0.42956	TCT		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
TP53	7157	hgsc.bcm.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	7517846	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		7517846	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DNAH2	146754	hgsc.bcm.edu	37	17	7720951	7720951	+	Missense_Mutation	SNP	C	C	T	rs138685987		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:7720951C>T	ENST00000572933.1	+	66	11553	c.10093C>T	c.(10093-10095)Cgg>Tgg	p.R3365W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3365W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3365	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACCAAAGTCCGGGACTGGAA	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19227	0.0		0.0	False		,,,				2504	0.0																0			17						C	TRP/ARG	0,4406		0,0,2203	88.0	88.0	88.0		10093	4.4	1.0	17	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH2	NM_020877.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3365/4428	7720951	1,13005	2203	4300	6503	7661676	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10093C>T	17.37:g.7720951C>T	ENSP00000458355:p.Arg3365Trp		7661676	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	19.94	3.920707	0.73213	0.0	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.67171	-0.25	5.36	4.39	0.52855	.	0.135740	0.48767	D	0.000168	D	0.88164	0.6363	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92133	0.5714	10	0.72032	D	0.01	.	14.4386	0.67301	0.1489:0.8511:0.0:0.0	.	3326;3365	Q9P225-2;Q9P225	.;DYH2_HUMAN	W	3326;3365	ENSP00000373825:R3365W	ENSP00000353818:R3326W	R	+	1	2	DNAH2	7661676	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.160000	0.58164	1.258000	0.44101	-0.270000	0.10280	CGG		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
PFAS	5198	hgsc.bcm.edu	37	17	8159189	8159189	+	Missense_Mutation	SNP	C	C	A	rs369947140		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:8159189C>A	ENST00000314666.6	+	6	774	c.641C>A	c.(640-642)cCg>cAg	p.P214Q	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	214					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAGCGGAACCCGAGCACTGTG	0.547																																																	0			17											102.0	100.0	101.0					17																	8159189		2203	4300	6503	8099914	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.641C>A	17.37:g.8159189C>A	ENSP00000313490:p.Pro214Gln		8099914	A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067450	0.93898	.	.	ENSG00000178921	ENST00000314666	T	0.29655	1.56	5.68	5.68	0.88126	.	0.056910	0.64402	D	0.000001	T	0.72748	0.3499	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83822	0.0247	10	0.87932	D	0	-18.5456	17.2918	0.87159	0.0:1.0:0.0:0.0	.	214	O15067	PUR4_HUMAN	Q	214	ENSP00000313490:P214Q	ENSP00000313490:P214Q	P	+	2	0	PFAS	8099914	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	5.504000	0.66968	2.677000	0.91161	0.563000	0.77884	CCG		0.547	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2		
PIK3R6	146850	hgsc.bcm.edu	37	17	8731468	8731468	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:8731468G>A	ENST00000311434.9	-	12	1592	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	451					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										GCTGCAGGCTGAGTCTGGGAG	0.642																																																	0			17											92.0	96.0	94.0					17																	8731468		1989	4167	6156	8672193	SO:0001819	synonymous_variant	146850			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1353C>T	17.37:g.8731468G>A			8672193	Q658R3	Silent	SNP	ENST00000311434.9	37																																																																																					0.642	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855	
GLP2R	9340	hgsc.bcm.edu	37	17	9792899	9792899	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:9792899G>A	ENST00000262441.5	+	13	2052	c.1539G>A	c.(1537-1539)ctG>ctA	p.L513L	GLP2R_ENST00000574745.1_Silent_p.L333L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	513					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TTGGGGAGCTGGGCGCCCAGC	0.637																																																	0			17											37.0	37.0	37.0					17																	9792899		2203	4300	6503	9733624	SO:0001819	synonymous_variant	9340			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1539G>A	17.37:g.9792899G>A			9733624	Q4VAT3	Silent	SNP	ENST00000262441.5	37	CCDS11150.1																																																																																				0.637	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
MYH8	4626	hgsc.bcm.edu	37	17	10300248	10300248	+	Missense_Mutation	SNP	C	C	T	rs200412862		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:10300248C>T	ENST00000403437.2	-	31	4328	c.4234G>A	c.(4234-4236)Gcc>Acc	p.A1412T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1412					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCACATTTGGCGTTCACAGCT	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0			17											97.0	90.0	92.0					17																	10300248		2203	4300	6503	10240973	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4234G>A	17.37:g.10300248C>T	ENSP00000384330:p.Ala1412Thr		10240973	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753852	0.49362	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78924	-1.22	5.15	5.15	0.70609	Myosin tail (1);	0.181065	0.26069	U	0.026527	T	0.78559	0.4302	M	0.80847	2.515	0.33432	D	0.581258	B	0.21821	0.061	B	0.19946	0.027	T	0.82376	-0.0488	10	0.59425	D	0.04	.	13.4122	0.60948	0.2698:0.7302:0.0:0.0	.	1412	P13535	MYH8_HUMAN	T	1412	ENSP00000384330:A1412T	ENSP00000252173:A1412T	A	-	1	0	MYH8	10240973	0.003000	0.15002	1.000000	0.80357	0.975000	0.68041	-0.061000	0.11693	2.673000	0.90976	0.650000	0.86243	GCC		0.512	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
DNAH9	1770	hgsc.bcm.edu	37	17	11865434	11865434	+	Missense_Mutation	SNP	G	G	A	rs368954907		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:11865434G>A	ENST00000262442.4	+	68	13162	c.13094G>A	c.(13093-13095)cGc>cAc	p.R4365H	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.R677H|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.R4289H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4365					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCACGGCTCGCAAGAATGAG	0.557																																																	0			17						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	64.0	65.0		13094,2030	1.8	0.9	17		65	0,8600		0,0,4300	no	missense,missense	DNAH9	NM_001372.3,NM_004662.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	4365/4487,677/799	11865434	1,13005	2203	4300	6503	11806159	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13094G>A	17.37:g.11865434G>A	ENSP00000262442:p.Arg4365His		11806159	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234034	0.22626	2.27E-4	0.0	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.14893	2.47;2.47;2.47	5.04	1.8	0.24995	Dynein heavy chain (1);	0.054502	0.64402	D	0.000002	T	0.44891	0.1315	H	0.97131	3.945	0.49798	D	0.999829	D	0.55800	0.973	P	0.54060	0.741	T	0.62191	-0.6906	10	0.72032	D	0.01	.	11.1115	0.48235	0.2349:0.0:0.7651:0.0	.	4365	Q9NYC9	DYH9_HUMAN	H	4365;4289;2871;677	ENSP00000262442:R4365H;ENSP00000414874:R4289H;ENSP00000379323:R677H	ENSP00000262442:R4365H	R	+	2	0	DNAH9	11806159	0.550000	0.26489	0.855000	0.33649	0.187000	0.23431	3.374000	0.52402	0.718000	0.32166	0.655000	0.94253	CGC		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
RAB11FIP4	84440	hgsc.bcm.edu	37	17	29858706	29858706	+	Missense_Mutation	SNP	G	G	A	rs144926498		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:29858706G>A	ENST00000325874.8	+	15	2099	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A522T	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	624	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GATTATCCTCGCCATCCTGGA	0.562																																																	0			17											158.0	141.0	147.0					17																	29858706		2203	4300	6503	26882826	SO:0001583	missense	84440			AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1870G>A	17.37:g.29858706G>A	ENSP00000312837:p.Ala624Thr		26882826	Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818229	0.50633	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.81	5.81	0.92471	Rab-binding domain FIP-RBD (2);	0.053516	0.85682	D	0.000000	T	0.63604	0.2525	L	0.28274	0.84	0.58432	D	0.999996	D;P	0.71674	0.998;0.875	D;B	0.64595	0.927;0.188	T	0.59794	-0.7387	8	.	.	.	-26.0067	17.5764	0.87950	0.0:0.0:1.0:0.0	.	522;624	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	T	624	.	.	A	+	1	0	RAB11FIP4	26882826	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	5.142000	0.64820	2.746000	0.94184	0.655000	0.94253	GCC		0.562	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932	
GAS2L2	246176	hgsc.bcm.edu	37	17	34072928	34072928	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:34072928C>T	ENST00000254466.6	-	6	1615	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	GAS2L2_ENST00000587565.1_Missense_Mutation_p.E514K	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	530					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCCCAAGTTCTGTCCTGGGA	0.617																																																	0			17											43.0	44.0	44.0					17																	34072928		2203	4300	6503	31097041	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1588G>A	17.37:g.34072928C>T	ENSP00000254466:p.Glu530Lys		31097041	Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688876	0.68271	.	.	ENSG00000132139	ENST00000254466	T	0.21543	2.0	4.81	3.83	0.44106	.	0.449943	0.21522	N	0.073188	T	0.15262	0.0368	L	0.29908	0.895	0.23192	N	0.998148	B	0.17038	0.02	B	0.20767	0.031	T	0.18023	-1.0350	10	0.28530	T	0.3	-8.7864	10.4654	0.44604	0.0:0.9077:0.0:0.0923	.	530	Q8NHY3	GA2L2_HUMAN	K	530	ENSP00000254466:E530K	ENSP00000254466:E530K	E	-	1	0	GAS2L2	31097041	0.004000	0.15560	0.853000	0.33588	0.922000	0.55478	0.289000	0.18957	1.238000	0.43771	0.655000	0.94253	GAA		0.617	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
CSF3	1440	hgsc.bcm.edu	37	17	38173127	38173127	+	Missense_Mutation	SNP	G	G	A	rs190847104		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:38173127G>A	ENST00000225474.2	+	5	570	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394148.3_Missense_Mutation_p.R144Q|CSF3_ENST00000577675.1_Missense_Mutation_p.R137Q|CSF3_ENST00000394149.3_Missense_Mutation_p.R177Q|CSF3_ENST00000331769.2_Missense_Mutation_p.R173Q			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	180					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				TTCCAGCGCCGGGCAGGAGGG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		15617	0.0		0.001	False		,,,				2504	0.0																0			17						G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	44.0	42.0	43.0		539,422,530,431	3.3	0.8	17		43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CSF3	NM_000759.3,NM_001178147.1,NM_172219.2,NM_172220.2	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	180/208,141/169,177/205,144/172	38173127	1,13005	2203	4300	6503	35426653	SO:0001583	missense	1440				CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"""Endogenous ligands"""	2438	protein-coding gene	gene with protein product	"""granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim"""	138970	"""chromosome 17 open reading frame 33"""	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.539G>A	17.37:g.38173127G>A	ENSP00000225474:p.Arg180Gln		35426653	A8MXR7	Missense_Mutation	SNP	ENST00000225474.2	37	CCDS11357.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.65	1.408897	0.25378	0.0	1.16E-4	ENSG00000108342	ENST00000394149;ENST00000225474;ENST00000331769;ENST00000394148	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.29	3.32	0.38043	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.191913	0.45867	N	0.000329	T	0.14527	0.0351	M	0.63428	1.95	0.31491	N	0.665949	B;B;B;B	0.33000	0.393;0.358;0.144;0.144	B;B;B;B	0.23574	0.034;0.047;0.047;0.047	T	0.10894	-1.0610	10	0.31617	T	0.26	-41.3711	7.5034	0.27530	0.2646:0.0:0.7354:0.0	.	137;173;180;177	B4DNY7;Q8N4W3;P09919;Q6FH65	.;.;CSF3_HUMAN;.	Q	177;180;173;144	ENSP00000377705:R177Q;ENSP00000225474:R180Q;ENSP00000327766:R173Q;ENSP00000377704:R144Q	ENSP00000225474:R180Q	R	+	2	0	CSF3	35426653	1.000000	0.71417	0.810000	0.32431	0.109000	0.19521	2.030000	0.41108	0.631000	0.30412	-0.254000	0.11334	CGG		0.657	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2	NM_172220	
RARA	5914	hgsc.bcm.edu	37	17	38508267	38508267	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:38508267G>A	ENST00000254066.5	+	5	1030	c.575G>A	c.(574-576)cGc>cAc	p.R192H	RARA_ENST00000425707.3_Missense_Mutation_p.R95H|RARA_ENST00000394081.3_Missense_Mutation_p.R187H|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.R192H|RARA_ENST00000394086.3_Missense_Mutation_p.R208H	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	192	Hinge.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAGAAGGTGCGCAAAGCGCAC	0.602			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																			Dom	yes		17	17q12	5914	"""retinoic acid receptor, alpha"""		L	0			17											32.0	32.0	32.0					17																	38508267		2202	4293	6495	35761793	SO:0001583	missense	5914			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.575G>A	17.37:g.38508267G>A	ENSP00000254066:p.Arg192His		35761793	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	CCDS11366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.781|9.781	1.175284|1.175284	0.21704|0.21704	.|.	.|.	ENSG00000131759|ENSG00000131759	ENST00000319149|ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000420042	.|D;D;D;D;D	.|0.92805	.|-3.09;-3.11;-3.09;-3.05;-2.95	4.38|4.38	3.41|3.41	0.39046|0.39046	.|Nuclear hormone receptor, ligand-binding (2);	0.478086|.	0.20834|.	N|.	0.084827|.	D|D	0.91270|0.91270	0.7248|0.7248	L|L	0.53561|0.53561	1.675|1.675	0.58432|0.58432	D|D	0.999999|0.999999	.|D;B;D	.|0.69078	.|0.997;0.027;0.99	.|P;B;P	.|0.52189	.|0.692;0.007;0.592	D|D	0.88153|0.88153	0.2852|0.2852	7|9	0.39692|0.24483	T|T	0.17|0.36	.|.	11.4391|11.4391	0.50086|0.50086	0.0915:0.0:0.9085:0.0|0.0915:0.0:0.9085:0.0	.|.	.|95;187;192	.|B8Y636;F1D8N9;P10276	.|.;.;RARA_HUMAN	T|H	186|192;95;192;208;187;79	.|ENSP00000254066:R192H;ENSP00000389993:R95H;ENSP00000377649:R192H;ENSP00000377648:R208H;ENSP00000377643:R187H	ENSP00000316769:A186T|ENSP00000254066:R192H	A|R	+|+	1|2	0|0	RARA|RARA	35761793|35761793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.018000|0.018000	0.09664|0.09664	9.731000|9.731000	0.98807|0.98807	0.958000|0.958000	0.37956|0.37956	0.461000|0.461000	0.40582|0.40582	GCA|CGC		0.602	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2		
STAT5A	6776	hgsc.bcm.edu	37	17	40460307	40460307	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:40460307G>A	ENST00000345506.4	+	17	2660	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	STAT5A_ENST00000588868.1_Missense_Mutation_p.R642H|STAT5A_ENST00000590949.1_Missense_Mutation_p.R673H|STAT5A_ENST00000546010.2_Missense_Mutation_p.R643H|STAT5A_ENST00000452307.2_Missense_Mutation_p.R670H|STAT5A_ENST00000587646.1_Missense_Mutation_p.R161H	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	673	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TTTCCTGACCGCCCCAAGGAT	0.607																																																	0			17											72.0	67.0	69.0					17																	40460307		2203	4300	6503	37713833	SO:0001583	missense	6776			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.2018G>A	17.37:g.40460307G>A	ENSP00000341208:p.Arg673His		37713833	Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097455	0.76870	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.96522	-4.04;-4.04;-4.04	5.06	5.06	0.68205	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	L	0.50333	1.59	0.80722	D	1	D;P;P;D;P	0.89917	1.0;0.951;0.951;0.966;0.951	P;B;B;P;P	0.56960	0.81;0.397;0.397;0.629;0.469	D	0.95284	0.8389	10	0.25106	T	0.35	-34.5498	18.4321	0.90630	0.0:0.0:1.0:0.0	.	673;670;643;644;673	A8K6I5;Q8WWS9;Q1KLZ6;Q59GY7;P42229	.;.;.;.;STA5A_HUMAN	H	673;643;644;670	ENSP00000341208:R673H;ENSP00000443107:R643H;ENSP00000400320:R670H	ENSP00000341208:R673H	R	+	2	0	STAT5A	37713833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.347000	0.65998	2.368000	0.80403	0.561000	0.74099	CGC		0.607	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152	
BRCA1	672	hgsc.bcm.edu	37	17	41197782	41197782	+	Silent	SNP	T	T	C	rs397509290|rs273902775|rs80359873|rs80359883		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:41197782T>C	ENST00000357654.3	-	23	5623	c.5505A>G	c.(5503-5505)cgA>cgG	p.R1835R	BRCA1_ENST00000591534.1_Silent_p.R326R|BRCA1_ENST00000471181.2_Silent_p.R1856R|BRCA1_ENST00000468300.1_3'UTR|BRCA1_ENST00000591849.1_Silent_p.R68R|BRCA1_ENST00000309486.4_Silent_p.R1539R|BRCA1_ENST00000351666.3_Silent_p.R652R|BRCA1_ENST00000354071.3_Silent_p.R1570R|BRCA1_ENST00000346315.3_Silent_p.R1596R|BRCA1_ENST00000352993.3_Silent_p.R693R|BRCA1_ENST00000586385.1_Silent_p.R145R|BRCA1_ENST00000493795.1_Silent_p.R1788R|BRCA1_ENST00000491747.2_Silent_p.R731R	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1835	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACACCCACTCTCGGGTCACCA	0.542			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17											104.0	86.0	92.0					17																	41197782		2203	4300	6503	38451308	SO:0001819	synonymous_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5505A>G	17.37:g.41197782T>C			38451308	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	CCDS11453.1																																																																																				0.542	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
DHX8	1659	hgsc.bcm.edu	37	17	41570159	41570159	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:41570159G>A	ENST00000262415.3	+	6	686	c.614G>A	c.(613-615)cGc>cAc	p.R205H	DHX8_ENST00000540306.1_Missense_Mutation_p.R205H	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	205	Arg/Ser-rich (RS domain).				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		caCCGATCCCGCTCTCGATCA	0.552																																					NSCLC(56;1548 1661 49258 49987)												0			17											139.0	141.0	140.0					17																	41570159		2203	4300	6503	38925685	SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.614G>A	17.37:g.41570159G>A	ENSP00000262415:p.Arg205His		38925685		Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696420	0.30142	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.40476	1.03;1.03	5.47	3.49	0.39957	.	0.306760	0.31404	N	0.007707	T	0.31327	0.0793	L	0.32530	0.975	0.58432	D	0.999999	B;B	0.12630	0.006;0.002	B;B	0.09377	0.004;0.001	T	0.16070	-1.0415	10	0.62326	D	0.03	.	10.6547	0.45667	0.153:0.0:0.847:0.0	.	205;205	F5H658;Q14562	.;DHX8_HUMAN	H	205	ENSP00000437886:R205H;ENSP00000262415:R205H	ENSP00000262415:R205H	R	+	2	0	DHX8	38925685	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	6.268000	0.72552	1.314000	0.45095	-0.145000	0.13849	CGC		0.552	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		
RUNDC3A	10900	hgsc.bcm.edu	37	17	42392949	42392949	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:42392949G>T	ENST00000426726.3	+	8	1199	c.925G>T	c.(925-927)Ggc>Tgc	p.G309C	RUNDC3A_ENST00000225441.7_Missense_Mutation_p.G309C|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.G304C	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	309					positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGAGCTGGAAGGCGTGATCCT	0.682																																					Pancreas(82;1061 1416 11136 20771 23901)												0			17											3.0	5.0	4.0					17																	42392949		1845	3806	5651	39748475	SO:0001583	missense	10900			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.925G>T	17.37:g.42392949G>T	ENSP00000410862:p.Gly309Cys		39748475	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	ENST00000426726.3	37	CCDS45698.1	.	.	.	.	.	.	.	.	.	.	g	19.12	3.765519	0.69878	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.56103	0.48;0.48	4.01	4.01	0.46588	.	0.323197	0.32608	N	0.005872	T	0.46541	0.1398	N	0.22421	0.69	0.45318	D	0.99831	P;P;P;P	0.51653	0.947;0.896;0.896;0.896	B;B;P;P	0.48815	0.417;0.336;0.591;0.591	T	0.47497	-0.9113	10	0.40728	T	0.16	-20.1559	15.0634	0.71973	0.0:0.0:1.0:0.0	.	309;309;304;309	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	C	309	ENSP00000410862:G309C;ENSP00000225441:G309C	ENSP00000225441:G309C	G	+	1	0	RUNDC3A	39748475	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.527000	0.73803	2.060000	0.61445	0.455000	0.32223	GGC		0.682	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695	
GPATCH8	23131	hgsc.bcm.edu	37	17	42475954	42475954	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:42475954G>T	ENST00000591680.1	-	8	3521	c.3491C>A	c.(3490-3492)tCt>tAt	p.S1164Y	GPATCH8_ENST00000434000.1_Missense_Mutation_p.S1086Y	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1164							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCCAAGCCAGACTCTTCACA	0.542																																																	0			17											116.0	125.0	122.0					17																	42475954		2202	4300	6502	39831480	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3491C>A	17.37:g.42475954G>T	ENSP00000467556:p.Ser1164Tyr		39831480	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447680	0.43429	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.14893	2.47	4.99	4.03	0.46877	.	0.289542	0.33419	N	0.004922	T	0.11537	0.0281	N	0.24115	0.695	0.29448	N	0.858709	B	0.13145	0.007	B	0.06405	0.002	T	0.08249	-1.0731	10	0.62326	D	0.03	-4.3848	9.1472	0.36939	0.0772:0.1463:0.7766:0.0	.	1164	Q9UKJ3	GPTC8_HUMAN	Y	1164;1086	ENSP00000395016:S1086Y	ENSP00000335486:S1164Y	S	-	2	0	GPATCH8	39831480	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.627000	0.54252	1.344000	0.45657	0.650000	0.86243	TCT		0.542	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909	
HEXIM2	124790	hgsc.bcm.edu	37	17	43246685	43246685	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:43246685G>A	ENST00000307275.3	+	4	806	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	HEXIM2_ENST00000592695.1_Missense_Mutation_p.A124T|RP13-890H12.2_ENST00000589451.1_RNA|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.A124T	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	124					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						GAGCCAGAGGGCCTCCCGGGT	0.637																																																	0			17											31.0	35.0	34.0					17																	43246685		2203	4300	6503	40602468	SO:0001583	missense	124790			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.370G>A	17.37:g.43246685G>A	ENSP00000302276:p.Ala124Thr		40602468	D3DX66	Missense_Mutation	SNP	ENST00000307275.3	37	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717284	0.89205	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	L	0.58925	1.835	0.52099	D	0.999942	D	0.89917	1.0	D	0.87578	0.998	T	0.78590	-0.2145	9	0.87932	D	0	-22.9547	16.9989	0.86376	0.0:0.0:1.0:0.0	.	124	Q96MH2	HEXI2_HUMAN	T	124	.	ENSP00000302276:A124T	A	+	1	0	HEXIM2	40602468	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.544000	0.82117	2.667000	0.90743	0.561000	0.74099	GCC		0.637	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608	
NFE2L1	4779	hgsc.bcm.edu	37	17	46128610	46128610	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:46128610C>A	ENST00000362042.3	+	2	746	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	NFE2L1_ENST00000357480.5_Missense_Mutation_p.L44M|NFE2L1_ENST00000585291.1_Missense_Mutation_p.L44M|NFE2L1_ENST00000361665.3_Missense_Mutation_p.L44M	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	44					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGAGATCATCCTGGGGCCCAG	0.527																																																	0			17											100.0	97.0	98.0					17																	46128610		2203	4300	6503	43483609	SO:0001583	missense	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.130C>A	17.37:g.46128610C>A	ENSP00000354855:p.Leu44Met		43483609	D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467249	0.26335	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.45276	0.9;0.9	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.61476	0.2350	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.994;0.998;0.997	T	0.64445	-0.6406	10	0.66056	D	0.02	-19.3142	11.3388	0.49520	0.0:0.911:0.0:0.089	.	44;44;44	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	M	63;44;44	ENSP00000355190:L44M;ENSP00000350072:L44M	ENSP00000350072:L44M	L	+	1	2	NFE2L1	43483609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.034000	0.70933	2.323000	0.78572	0.462000	0.41574	CTG		0.527	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204	
IGF2BP1	10642	hgsc.bcm.edu	37	17	47117401	47117401	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:47117401G>A	ENST00000290341.3	+	7	1100	c.766G>A	c.(766-768)Gct>Act	p.A256T	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	256	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTGCTCCTCCGCTTGTAAGAT	0.512																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0			17											161.0	147.0	152.0					17																	47117401		2203	4300	6503	44472400	SO:0001583	missense	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.766G>A	17.37:g.47117401G>A	ENSP00000290341:p.Ala256Thr		44472400	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534452	0.96460	.	.	ENSG00000159217	ENST00000290341	T	0.76448	-1.02	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	M	0.89534	3.04	0.80722	D	1	D	0.65815	0.995	P	0.59825	0.864	D	0.90494	0.4469	10	0.56958	D	0.05	-10.9207	18.512	0.90920	0.0:0.0:1.0:0.0	.	256	Q9NZI8	IF2B1_HUMAN	T	256	ENSP00000290341:A256T	ENSP00000290341:A256T	A	+	1	0	IGF2BP1	44472400	1.000000	0.71417	0.934000	0.37439	0.802000	0.45316	9.866000	0.99616	2.655000	0.90218	0.655000	0.94253	GCT		0.512	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
ITGA3	3675	hgsc.bcm.edu	37	17	48165207	48165207	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:48165207G>T	ENST00000320031.8	+	24	3349	c.3019G>T	c.(3019-3021)Ggg>Tgg	p.G1007W	ITGA3_ENST00000007722.7_Missense_Mutation_p.G1007W	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1007					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GCTGCTGCTGGGGCTGATCAT	0.637																																																	0			17											54.0	56.0	55.0					17																	48165207		2202	4299	6501	45520206	SO:0001583	missense	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.3019G>T	17.37:g.48165207G>T	ENSP00000315190:p.Gly1007Trp		45520206	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542554	0.65198	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.58060	0.36;0.36	4.7	4.7	0.59300	.	0.052929	0.64402	D	0.000001	T	0.73071	0.3540	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75892	-0.3157	10	0.51188	T	0.08	.	16.7594	0.85507	0.0:0.0:1.0:0.0	.	1007;1007	P26006-1;P26006	.;ITA3_HUMAN	W	1007;993;1007	ENSP00000007722:G1007W;ENSP00000315190:G1007W	ENSP00000007722:G1007W	G	+	1	0	ITGA3	45520206	1.000000	0.71417	0.944000	0.38274	0.273000	0.26683	5.785000	0.68998	2.314000	0.78098	0.455000	0.32223	GGG		0.637	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501	
COL1A1	1277	hgsc.bcm.edu	37	17	48263786	48263786	+	Silent	SNP	G	G	A	rs34940368	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:48263786G>A	ENST00000225964.5	-	49	4015	c.3897C>T	c.(3895-3897)tgC>tgT	p.C1299C		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1299	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TGGGGTACACGCAGGTCTCAC	0.562			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						G|||	32	0.00638978	0.0227	0.0029	5008	,	,		22768	0.0		0.0	False		,,,				2504	0.0							Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0			17	GRCh37	CM012085	COL1A1	M	rs34940368	G		75,4331	66.4+/-103.9	0,75,2128	160.0	143.0	149.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3897	-0.3	1.0	17	dbSNP_126	149	0,8600		0,0,4300	no	coding-synonymous	COL1A1	NM_000088.3		0,75,6428	AA,AG,GG		0.0,1.7022,0.5767		1299/1465	48263786	75,12931	2203	4300	6503	45618785	SO:0001819	synonymous_variant	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3897C>T	17.37:g.48263786G>A			45618785	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	CCDS11561.1																																																																																				0.562	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
CLTC	1213	hgsc.bcm.edu	37	17	57761287	57761287	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:57761287A>G	ENST00000269122.3	+	28	4649	c.4375A>G	c.(4375-4377)Aac>Gac	p.N1459D	CLTC_ENST00000579456.1_Missense_Mutation_p.N396D|CLTC_ENST00000393043.1_Missense_Mutation_p.N1459D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1459	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCAGAACCATAACAACAAATC	0.318			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0			17											72.0	69.0	70.0					17																	57761287		2203	4300	6503	55116069	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4375A>G	17.37:g.57761287A>G	ENSP00000269122:p.Asn1459Asp		55116069	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205454	0.79127	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.25912	1.77;1.77	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.82433	2.59	0.80722	D	1	D;B	0.71674	0.998;0.295	D;P	0.91635	0.999;0.487	T	0.60747	-0.7202	10	0.59425	D	0.04	.	15.9826	0.80125	1.0:0.0:0.0:0.0	.	1459;1459	Q00610;Q00610-2	CLH1_HUMAN;.	D	1459	ENSP00000269122:N1459D;ENSP00000376763:N1459D	ENSP00000269122:N1459D	N	+	1	0	CLTC	55116069	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.235000	0.73313	0.460000	0.39030	AAC		0.318	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
SCN4A	6329	hgsc.bcm.edu	37	17	62049972	62049972	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:62049972C>T	ENST00000435607.1	-	1	306	c.230G>A	c.(229-231)gGc>gAc	p.G77D	SCN4A_ENST00000578147.1_Missense_Mutation_p.G77D|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	77					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGGGGATGCCGATGACCTC	0.587																																																	0			17											27.0	31.0	29.0					17																	62049972		2059	4185	6244	59403704	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.230G>A	17.37:g.62049972C>T	ENSP00000396320:p.Gly77Asp		59403704	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941639	0.53079	.	.	ENSG00000007314	ENST00000435607	D	0.96300	-3.97	4.33	4.33	0.51752	.	0.225652	0.46758	D	0.000268	D	0.97046	0.9035	M	0.89353	3.025	0.37334	D	0.91009	D	0.56521	0.976	P	0.47786	0.557	D	0.99895	1.1146	10	0.62326	D	0.03	.	15.9897	0.80193	0.0:1.0:0.0:0.0	.	77	P35499	SCN4A_HUMAN	D	77	ENSP00000396320:G77D	ENSP00000396320:G77D	G	-	2	0	SCN4A	59403704	0.938000	0.31826	1.000000	0.80357	0.547000	0.35210	1.518000	0.35877	2.258000	0.74832	0.305000	0.20034	GGC		0.587	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
SMURF2	64750	hgsc.bcm.edu	37	17	62582271	62582271	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:62582271C>T	ENST00000262435.9	-	6	605	c.418G>A	c.(418-420)Gac>Aac	p.D140N	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	140					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CCTATTCGGTCTCTGGACTGA	0.338																																																	0			17											92.0	98.0	96.0					17																	62582271		2203	4300	6503	60012733	SO:0001583	missense	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.418G>A	17.37:g.62582271C>T	ENSP00000262435:p.Asp140Asn		60012733	Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406188	0.62288	.	.	ENSG00000108854	ENST00000262435	T	0.52754	0.65	5.45	5.45	0.79879	C2 calcium/lipid-binding domain, CaLB (1);	0.082699	0.85682	D	0.000000	T	0.58921	0.2156	M	0.70595	2.14	0.80722	D	1	P	0.50943	0.94	P	0.50754	0.649	T	0.54662	-0.8260	10	0.21014	T	0.42	.	19.2959	0.94122	0.0:1.0:0.0:0.0	.	140	Q9HAU4	SMUF2_HUMAN	N	140	ENSP00000262435:D140N	ENSP00000262435:D140N	D	-	1	0	SMURF2	60012733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.188000	0.77739	2.566000	0.86566	0.655000	0.94253	GAC		0.338	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739	
ABCA6	23460	hgsc.bcm.edu	37	17	67119400	67119400	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:67119400G>A	ENST00000284425.2	-	10	1590	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	472					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)					CTTTTCCTTGGAATTCAGGAG	0.328																																																	0			17											91.0	89.0	90.0					17																	67119400		2203	4300	6503	64630995	SO:0001819	synonymous_variant	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.1416C>T	17.37:g.67119400G>A			64630995	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																				0.328	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
HID1	283987	hgsc.bcm.edu	37	17	72947704	72947704	+	Silent	SNP	G	G	A	rs147194757	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:72947704G>A	ENST00000425042.2	-	19	2405	c.2328C>T	c.(2326-2328)taC>taT	p.Y776Y		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	776					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CGTCGGTGTCGTACCAGACAG	0.622																																																	0			17						G		0,4406		0,0,2203	39.0	35.0	37.0		2328	-7.9	0.9	17	dbSNP_134	37	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C17orf28	NM_030630.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		776/789	72947704	2,13004	2203	4300	6503	70459299	SO:0001819	synonymous_variant	283987				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.2328C>T	17.37:g.72947704G>A			70459299	Q8N5L6|Q8TE83|Q9NT34	Silent	SNP	ENST00000425042.2	37	CCDS32726.1																																																																																				0.622	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	
RECQL5	9400	hgsc.bcm.edu	37	17	73654466	73654466	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:73654466C>A	ENST00000317905.5	-	7	1220	c.1061G>T	c.(1060-1062)gGg>gTg	p.G354V	RECQL5_ENST00000420326.2_Missense_Mutation_p.G354V|RECQL5_ENST00000423245.2_Missense_Mutation_p.G327V|RECQL5_ENST00000340830.5_Missense_Mutation_p.G354V|RECQL5_ENST00000584999.1_Missense_Mutation_p.G354V	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	354	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGAAGGCTTCCCATCCCTGCC	0.547								Other identified genes with known or suspected DNA repair function																																									0			17											129.0	126.0	127.0					17																	73654466		2203	4300	6503	71166061	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1061G>T	17.37:g.73654466C>A	ENSP00000317636:p.Gly354Val		71166061	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171362	0.57584	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.10573	2.86;2.86;2.86	5.84	5.84	0.93424	Helicase, C-terminal (3);	0.049816	0.85682	D	0.000000	T	0.57373	0.2049	H	0.99516	4.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77222	-0.2667	10	0.87932	D	0	-16.0714	20.1346	0.98019	0.0:1.0:0.0:0.0	.	354;327;354	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	V	354	ENSP00000317636:G354V;ENSP00000414933:G354V;ENSP00000341983:G354V	ENSP00000317636:G354V	G	-	2	0	RECQL5	71166061	1.000000	0.71417	0.992000	0.48379	0.975000	0.68041	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	GGG		0.547	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
ITGB4	3691	hgsc.bcm.edu	37	17	73738544	73738544	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:73738544G>A	ENST00000200181.3	+	24	2943	c.2756G>A	c.(2755-2757)gGc>gAc	p.G919D	ITGB4_ENST00000449880.2_Missense_Mutation_p.G919D|ITGB4_ENST00000339591.3_Missense_Mutation_p.G919D|ITGB4_ENST00000579662.1_Missense_Mutation_p.G919D|ITGB4_ENST00000450894.3_Missense_Mutation_p.G919D|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	919					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGGCCCCCGGCTACTACACC	0.667																																																	0			17											47.0	32.0	37.0					17																	73738544		2201	4299	6500	71250139	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2756G>A	17.37:g.73738544G>A	ENSP00000200181:p.Gly919Asp		71250139	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022556	0.54683	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.82619	-1.63;-1.53;-1.53	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88902	0.3353	10	0.87932	D	0	.	19.3572	0.94420	0.0:0.0:1.0:0.0	.	919;919;919	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	D	919	ENSP00000200181:G919D;ENSP00000344079:G919D;ENSP00000400217:G919D	ENSP00000200181:G919D	G	+	2	0	ITGB4	71250139	1.000000	0.71417	0.981000	0.43875	0.772000	0.43724	7.913000	0.87471	2.583000	0.87209	0.650000	0.86243	GGC		0.667	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		
FOXJ1	2302	hgsc.bcm.edu	37	17	74136058	74136058	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:74136058G>A	ENST00000322957.6	-	2	773	c.419C>T	c.(418-420)aCc>aTc	p.T140I	RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	140					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGTGATCTTGGTGGCCTTGCT	0.627																																																	0			17											81.0	57.0	65.0					17																	74136058		2203	4300	6503	71647653	SO:0001583	missense	2302			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.419C>T	17.37:g.74136058G>A	ENSP00000323880:p.Thr140Ile		71647653	O00630	Missense_Mutation	SNP	ENST00000322957.6	37	CCDS32739.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578335	0.45902	.	.	ENSG00000129654	ENST00000322957	D	0.95482	-3.72	5.35	5.35	0.76521	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.154769	0.56097	D	0.000023	D	0.89491	0.6730	N	0.11560	0.145	0.80722	D	1	B	0.18310	0.027	B	0.17433	0.018	D	0.86096	0.1553	10	0.56958	D	0.05	.	13.369	0.60703	0.0759:0.0:0.9241:0.0	.	140	Q92949	FOXJ1_HUMAN	I	140	ENSP00000323880:T140I	ENSP00000323880:T140I	T	-	2	0	FOXJ1	71647653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.579000	0.36536	2.499000	0.84300	0.462000	0.41574	ACC		0.627	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454	
UBE2O	63893	hgsc.bcm.edu	37	17	74392240	74392240	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:74392240G>A	ENST00000319380.7	-	14	2842	c.2778C>T	c.(2776-2778)ggC>ggT	p.G926G	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	926					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						AGAAGACCTCGCCCTTGGCGC	0.637																																																	0			17											36.0	38.0	37.0					17																	74392240		2203	4300	6503	71903835	SO:0001819	synonymous_variant	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.2778C>T	17.37:g.74392240G>A			71903835	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	CCDS32742.1																																																																																				0.637	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066	
RHBDF2	79651	hgsc.bcm.edu	37	17	74475004	74475004	+	Missense_Mutation	SNP	C	C	T	rs376555925		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:74475004C>T	ENST00000313080.4	-	6	916	c.643G>A	c.(643-645)Gga>Aga	p.G215R	RHBDF2_ENST00000592378.1_5'Flank|RHBDF2_ENST00000389760.4_Missense_Mutation_p.G186R|RHBDF2_ENST00000591885.1_Missense_Mutation_p.G186R	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	215					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GACAGGACTCCGGGGGTCAGC	0.677																																																	0			17						C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	52.0	46.0	48.0		556,643	5.6	0.6	17		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RHBDF2	NM_001005498.3,NM_024599.5	125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	186/828,215/857	74475004	1,13005	2203	4300	6503	71986599	SO:0001583	missense	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.643G>A	17.37:g.74475004C>T	ENSP00000322775:p.Gly215Arg		71986599	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475757	0.84640	0.0	1.16E-4	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.79749	-1.3;-1.3	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.88597	0.3147	10	0.49607	T	0.09	-36.6475	19.4888	0.95042	0.0:1.0:0.0:0.0	.	186;161;215;186	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	R	215;186;161	ENSP00000322775:G215R;ENSP00000374410:G186R	ENSP00000322775:G215R	G	-	1	0	RHBDF2	71986599	1.000000	0.71417	0.605000	0.28930	0.438000	0.31896	6.072000	0.71238	2.605000	0.88082	0.455000	0.32223	GGA		0.677	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599	
METTL23	124512	hgsc.bcm.edu	37	17	74729392	74729392	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:74729392G>A	ENST00000341249.6	+	4	672	c.340G>A	c.(340-342)Gct>Act	p.A114T	METTL23_ENST00000586200.1_5'UTR|METTL23_ENST00000590964.1_Missense_Mutation_p.A47T|METTL23_ENST00000588302.1_Missense_Mutation_p.A47T|METTL23_ENST00000589977.1_Missense_Mutation_p.A114T|METTL23_ENST00000586738.1_Missense_Mutation_p.A114T|METTL23_ENST00000586752.1_Missense_Mutation_p.A47T|METTL23_ENST00000591571.1_Missense_Mutation_p.A47T|METTL23_ENST00000588783.1_Missense_Mutation_p.A114T|METTL23_ENST00000588822.1_Missense_Mutation_p.A47T|MFSD11_ENST00000586622.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	114						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						AGACATTTTGGCTACAATATA	0.348																																																	0			17											71.0	64.0	66.0					17																	74729392		1840	4087	5927	72240987	SO:0001583	missense	124512				CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.340G>A	17.37:g.74729392G>A	ENSP00000341543:p.Ala114Thr		72240987	H9ZYJ0|K7EK32	Missense_Mutation	SNP	ENST00000341249.6	37	CCDS45787.1	.	.	.	.	.	.	.	.	.	.	G	4.329	0.060496	0.08339	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	T	0.06687	3.27	6.17	3.98	0.46160	.	0.511063	0.23354	N	0.049097	T	0.03783	0.0107	N	0.12637	0.245	0.20196	N	0.999922	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.46205	-0.9208	10	0.09338	T	0.73	-6.8963	5.2511	0.15522	0.7288:0.0:0.1403:0.1308	.	114;194	Q86XA0;Q8N712	MET23_HUMAN;.	T	193;114	ENSP00000341543:A114T	ENSP00000316862:A193T	A	+	1	0	METTL23	72240987	1.000000	0.71417	0.763000	0.31416	0.109000	0.19521	1.380000	0.34351	0.586000	0.29626	-0.238000	0.12139	GCT		0.348	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510	
DNAH17	8632	hgsc.bcm.edu	37	17	76462738	76462738	+	Splice_Site	SNP	G	G	A	rs374923749	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:76462738G>A	ENST00000585328.1	-	56	9048	c.8924C>T	c.(8923-8925)cCg>cTg	p.P2975L	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Splice_Site_p.P2966L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2966	AAA 4. {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(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGACTCACCGGAATCCCCTC	0.637																																																	0			17											30.0	35.0	33.0					17																	76462738		2065	4211	6276	73974333	SO:0001630	splice_region_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8925+1C>T	17.37:g.76462738G>A			73974333	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	G	11.91	1.779159	0.31502	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.39997	1.05	4.64	-2.4	0.06583	.	.	.	.	.	T	0.42154	0.1190	M	0.64676	1.99	0.33918	D	0.640484	.	.	.	.	.	.	T	0.52815	-0.8525	7	0.54805	T	0.06	.	4.3957	0.11362	0.1125:0.0699:0.4019:0.4157	.	.	.	.	L	2975;2966	ENSP00000374490:P2966L	ENSP00000300671:P2975L	P	-	2	0	DNAH17	73974333	0.944000	0.32072	0.001000	0.08648	0.006000	0.05464	0.983000	0.29552	-0.718000	0.04949	-0.397000	0.06425	CCG		0.637	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	Missense_Mutation
DNAH17	8632	hgsc.bcm.edu	37	17	76497340	76497340	+	Silent	SNP	G	G	A	rs370045140		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:76497340G>A	ENST00000585328.1	-	35	5518	c.5394C>T	c.(5392-5394)tgC>tgT	p.C1798C	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Silent_p.C1789C|DNAH17-AS1_ENST00000598378.1_3'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1789	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTGGGCATCGCAGATGTTGG	0.592																																																	0			17						G		0,4356		0,0,2178	108.0	116.0	113.0		5409	-8.5	0.7	17		113	2,8578	1.2+/-3.3	0,2,4288	no	coding-synonymous	DNAH17	NM_173628.3		0,2,6466	AA,AG,GG		0.0233,0.0,0.0155		1803/4463	76497340	2,12934	2178	4290	6468	74008935	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5394C>T	17.37:g.76497340G>A			74008935	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																					0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
RNF213	57674	hgsc.bcm.edu	37	17	78320610	78320610	+	Silent	SNP	C	C	T	rs375053532	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:78320610C>T	ENST00000582970.1	+	29	8618	c.8475C>T	c.(8473-8475)tgC>tgT	p.C2825C	RNF213_ENST00000336301.6_Silent_p.C898C|RNF213_ENST00000508628.2_Silent_p.C2874C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2825					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCGGCAGTGCGCCCGCTTTC	0.607													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18246	0.0		0.0	False		,,,				2504	0.0																0			17						C		0,4406		0,0,2203	51.0	47.0	48.0		8622	-8.2	0.7	17		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF213	NM_020914.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2874/5257	78320610	1,13005	2203	4300	6503	75935205	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8475C>T	17.37:g.78320610C>T			75935205	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
RNF213	57674	hgsc.bcm.edu	37	17	78341582	78341582	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:78341582G>T	ENST00000582970.1	+	43	12049	c.11906G>T	c.(11905-11907)gGg>gTg	p.G3969V	RNF213_ENST00000336301.6_Missense_Mutation_p.G2042V|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4018V|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3969					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGACGCACGGGCCTTTTGAG	0.592																																																	0			17											76.0	70.0	72.0					17																	78341582		2203	4300	6503	75956177	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11906G>T	17.37:g.78341582G>T	ENSP00000464087:p.Gly3969Val		75956177	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016520	0.35606	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21361	2.01	5.08	2.02	0.26589	.	0.519406	0.20669	N	0.087876	T	0.11196	0.0273	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.17038	0.02;0.0	B;B	0.15870	0.014;0.0	T	0.20538	-1.0272	10	0.49607	T	0.09	.	1.1071	0.01696	0.2637:0.1526:0.4264:0.1572	.	4018;2042	C9JCP4;Q63HN8	.;RN213_HUMAN	V	3969;4018;2042	ENSP00000338218:G2042V	ENSP00000338218:G2042V	G	+	2	0	RNF213	75956177	0.119000	0.22226	0.256000	0.24389	0.592000	0.36648	0.737000	0.26144	0.543000	0.28864	0.655000	0.94253	GGG		0.592	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
RNF213	57674	hgsc.bcm.edu	37	17	78350234	78350234	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:78350234A>G	ENST00000582970.1	+	52	13462	c.13319A>G	c.(13318-13320)gAt>gGt	p.D4440G	RNF213_ENST00000336301.6_Missense_Mutation_p.D2513G|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.D4489G|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4440					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCAACCTTGATGGAACGGTG	0.527																																																	0			17											148.0	128.0	135.0					17																	78350234		2203	4300	6503	75964829	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13319A>G	17.37:g.78350234A>G	ENSP00000464087:p.Asp4440Gly		75964829	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.697060	0.30142	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23348	1.91	5.47	1.95	0.26073	.	1.185250	0.05914	N	0.632297	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.008;0.01	B;B	0.15484	0.013;0.005	T	0.30504	-0.9976	10	0.31617	T	0.26	.	5.7693	0.18243	0.7353:0.0:0.1393:0.1254	.	4489;2513	C9JCP4;Q63HN8	.;RN213_HUMAN	G	4440;4489;2513	ENSP00000338218:D2513G	ENSP00000338218:D2513G	D	+	2	0	RNF213	75964829	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.773000	0.26661	0.316000	0.23135	0.459000	0.35465	GAT		0.527	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
RNF213	57674	hgsc.bcm.edu	37	17	78357688	78357688	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:78357688G>A	ENST00000582970.1	+	59	14425	c.14282G>A	c.(14281-14283)gGc>gAc	p.G4761D	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G2834D|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4810D|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4761					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGAAAAATGGCAAAGAAAGA	0.512																																																	0			17											95.0	94.0	94.0					17																	78357688		2203	4300	6503	75972283	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14282G>A	17.37:g.78357688G>A	ENSP00000464087:p.Gly4761Asp		75972283	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962748	0.53507	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.23147	1.92	5.08	5.08	0.68730	.	0.380686	0.26187	N	0.025834	T	0.27933	0.0688	M	0.76002	2.32	0.36158	D	0.847949	P	0.45283	0.855	B	0.38985	0.287	T	0.40403	-0.9565	10	0.51188	T	0.08	.	9.2966	0.37819	0.0808:0.1592:0.76:0.0	.	2834	Q63HN8	RN213_HUMAN	D	4761;4810;2834;111	ENSP00000338218:G2834D	ENSP00000338218:G2834D	G	+	2	0	RNF213	75972283	1.000000	0.71417	0.548000	0.28192	0.925000	0.55904	4.928000	0.63447	2.626000	0.88956	0.655000	0.94253	GGC		0.512	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
C21orf91	54149	hgsc.bcm.edu	37	21	19190537	19190537	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:19190537G>A	ENST00000400558.3	-	2	189	c.99C>T	c.(97-99)tgC>tgT	p.C33C	C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Silent_p.C33C|C21orf91_ENST00000284881.4_Silent_p.C33C	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AACAAATGTGGCAGAAGGAGA	0.358																																																	0			21											185.0	175.0	178.0					21																	19190537		1878	4124	6002	18112408	SO:0001819	synonymous_variant	54149			AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.99C>T	21.37:g.19190537G>A			18112408		Silent	SNP	ENST00000400558.3	37	CCDS42909.1																																																																																				0.358	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447	
TTC3	7267	hgsc.bcm.edu	37	21	38569962	38569962	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:38569962A>G	ENST00000399017.2	+	43	8418	c.5671A>G	c.(5671-5673)Aca>Gca	p.T1891A	TTC3_ENST00000355666.1_Missense_Mutation_p.T1891A|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.T1891A	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1891					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCAAAGAGTGACAGAACACAT	0.308																																					Ovarian(38;194 1649 35661)												0			21											47.0	45.0	46.0					21																	38569962		2203	4300	6503	37491832	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5671A>G	21.37:g.38569962A>G	ENSP00000381981:p.Thr1891Ala		37491832	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.30|14.30	2.494624|2.494624	0.44352|0.44352	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000428693|ENST00000355666;ENST00000399017;ENST00000354749	.|T;T;T	.|0.08282	.|3.11;3.11;3.11	5.27|5.27	4.12|4.12	0.48240|0.48240	.|.	.|0.141349	.|0.44688	.|D	.|0.000431	T|T	0.08044|0.08044	0.0201|0.0201	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P	.|0.38195	.|0.622	.|B	.|0.30179	.|0.112	T|T	0.26258|0.26258	-1.0108|-1.0108	5|10	.|0.29301	.|T	.|0.29	-4.4003|-4.4003	7.8788|7.8788	0.29610|0.29610	0.9059:0.0:0.0941:0.0|0.9059:0.0:0.0941:0.0	.|.	.|1891	.|P53804	.|TTC3_HUMAN	G|A	182|1891	.|ENSP00000347889:T1891A;ENSP00000381981:T1891A;ENSP00000346791:T1891A	.|ENSP00000346791:T1891A	D|T	+|+	2|1	0|0	TTC3|TTC3	37491832|37491832	0.947000|0.947000	0.32204|0.32204	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	2.429000|2.429000	0.44758|0.44758	0.853000|0.853000	0.35312|0.35312	0.528000|0.528000	0.53228|0.53228	GAC|ACA		0.308	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
TMPRSS3	64699	hgsc.bcm.edu	37	21	43803247	43803247	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:43803247G>A	ENST00000291532.3	-	8	1632	c.677C>T	c.(676-678)tCg>tTg	p.S226L	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.S226L|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.S226L|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.S310L|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.S224L	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGGCCACTGCGAGAGCAAGGA	0.597																																																	0			21											104.0	84.0	91.0					21																	43803247		2203	4300	6503	42676316	SO:0001583	missense	64699			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.677C>T	21.37:g.43803247G>A	ENSP00000291532:p.Ser226Leu		42676316	D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198519	0.22037	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	T;D;D;T;D	0.81996	0.14;-1.56;-1.56;0.14;-1.56	5.38	1.62	0.23740	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.845761	0.10453	N	0.672809	T	0.61148	0.2324	N	0.11064	0.09	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.002	B;B;B	0.08055	0.003;0.001;0.003	T	0.45279	-0.9272	9	.	.	.	.	1.2875	0.02053	0.2114:0.3574:0.2331:0.1982	.	226;226;226	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	L	226;226;224;310;226	ENSP00000291532:S226L;ENSP00000411013:S226L;ENSP00000381442:S224L;ENSP00000369762:S310L;ENSP00000381434:S226L	.	S	-	2	0	TMPRSS3	42676316	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	0.905000	0.28504	0.473000	0.27368	0.591000	0.81541	TCG		0.597	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1		
HSF2BP	11077	hgsc.bcm.edu	37	21	45033773	45033773	+	Silent	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:45033773G>T	ENST00000291560.2	-	7	961	c.630C>A	c.(628-630)ctC>ctA	p.L210L	HSF2BP_ENST00000542962.1_Silent_p.L135L	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	210					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		TGGTGTCCAAGAGCACCCGGC	0.393																																																	0			21											90.0	85.0	87.0					21																	45033773		2203	4300	6503	43858201	SO:0001819	synonymous_variant	11077			AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.630C>A	21.37:g.45033773G>T			43858201	B4DX36	Silent	SNP	ENST00000291560.2	37	CCDS13697.1																																																																																				0.393	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031	
AIRE	326	hgsc.bcm.edu	37	21	45705994	45705994	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:45705994C>T	ENST00000291582.5	+	1	232	c.105C>T	c.(103-105)caC>caT	p.H35H		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	35	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TGGCTGACCACGACGTGGTCC	0.716									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0			21											6.0	6.0	6.0					21																	45705994		1878	3725	5603	44530422	SO:0001819	synonymous_variant	326	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.105C>T	21.37:g.45705994C>T			44530422	B2RP50|O43922|O43932|O75745	Silent	SNP	ENST00000291582.5	37	CCDS13706.1																																																																																				0.716	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2		
TRPM2	7226	hgsc.bcm.edu	37	21	45773671	45773671	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:45773671G>A	ENST00000397928.1	+	1	533	c.88G>A	c.(88-90)Gtc>Atc	p.V30I	TRPM2_ENST00000397932.2_Missense_Mutation_p.V30I|TRPM2_ENST00000300481.9_Missense_Mutation_p.V30I|TRPM2_ENST00000300482.5_Missense_Mutation_p.V30I	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	30					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTGGGGATGGTCTCCAATCT	0.607																																																	0			21											45.0	37.0	39.0					21																	45773671		2203	4300	6503	44598099	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.88G>A	21.37:g.45773671G>A	ENSP00000381023:p.Val30Ile		44598099	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	9.765	1.171219	0.21621	.	.	ENSG00000142185	ENST00000300482;ENST00000431901;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T;T	0.55413	0.63;0.69;0.63;0.65;0.52	4.4	3.5	0.40072	.	0.791041	0.10517	N	0.665367	T	0.42337	0.1198	L	0.44542	1.39	0.37998	D	0.934139	P;P	0.39665	0.682;0.546	B;B	0.31547	0.132;0.132	T	0.37407	-0.9707	10	0.48119	T	0.1	-14.0406	11.2935	0.49265	0.0:0.185:0.815:0.0	.	30;30	E9PGK7;O94759	.;TRPM2_HUMAN	I	30	ENSP00000300482:V30I;ENSP00000393982:V30I;ENSP00000381023:V30I;ENSP00000300481:V30I;ENSP00000381026:V30I	ENSP00000300481:V30I	V	+	1	0	TRPM2	44598099	0.381000	0.25140	0.127000	0.21898	0.026000	0.11368	1.112000	0.31172	0.821000	0.34540	0.561000	0.74099	GTC		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
TSPEAR	54084	hgsc.bcm.edu	37	21	45953746	45953746	+	Missense_Mutation	SNP	G	G	A	rs146257403		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:45953746G>A	ENST00000323084.4	-	3	429	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	TSPEAR_ENST00000397916.1_Missense_Mutation_p.R54W	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	122	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGTGACAACCGCAGGCCGAGC	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		10519	0.0		0.0	False		,,,				2504	0.0																0			21						G	TRP/ARG	5,4389	8.1+/-20.4	0,5,2192	35.0	34.0	34.0		364	3.0	0.8	21	dbSNP_134	34	0,8596		0,0,4298	yes	missense	TSPEAR	NM_144991.2	101	0,5,6490	AA,AG,GG		0.0,0.1138,0.0385	probably-damaging	122/670	45953746	5,12985	2197	4298	6495	44778174	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.364C>T	21.37:g.45953746G>A	ENSP00000321987:p.Arg122Trp		44778174		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	g	15.77	2.932438	0.52866	0.001138	0.0	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.49139	0.79;0.79	4.95	3.01	0.34805	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.060576	0.64402	D	0.000004	T	0.68495	0.3007	M	0.80183	2.485	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.71692	-0.4516	10	0.87932	D	0	-5.9092	13.241	0.59997	0.0:0.0:0.7101:0.2899	.	122	Q8WU66	TSEAR_HUMAN	W	122;122;54;122	ENSP00000321987:R122W;ENSP00000381012:R54W	ENSP00000321987:R122W	R	-	1	2	TSPEAR	44778174	0.181000	0.23161	0.848000	0.33437	0.062000	0.15995	0.729000	0.26028	0.414000	0.25790	0.555000	0.69702	CGG		0.687	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
KRTAP10-8	386681	hgsc.bcm.edu	37	21	46032347	46032347	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:46032347C>T	ENST00000334662.2	+	1	352	c.330C>T	c.(328-330)acC>acT	p.T110T	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	110	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTTGCTGCACCTCCTCCCCCT	0.642																																																	0			21											116.0	102.0	107.0					21																	46032347		2203	4300	6503	44856775	SO:0001819	synonymous_variant	386681			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.330C>T	21.37:g.46032347C>T			44856775	A0JNW4	Silent	SNP	ENST00000334662.2	37	CCDS13713.1																																																																																				0.642	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695	
COL18A1	80781	hgsc.bcm.edu	37	21	46931120	46931120	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:46931120C>T	ENST00000359759.4	+	40	5055	c.5034C>T	c.(5032-5034)gaC>gaT	p.D1678D	COL18A1_ENST00000355480.5_Silent_p.D1443D|SLC19A1_ENST00000468508.1_5'Flank|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.D1263D			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1678	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACGGCAAGGACGTCCTGAGGC	0.647																																																	0			21											36.0	38.0	38.0					21																	46931120		1980	4157	6137	45755548	SO:0001819	synonymous_variant	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.5034C>T	21.37:g.46931120C>T			45755548	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37		.	.	.	.	.	.	.	.	.	.	C	6.670	0.492201	0.12702	.	.	ENSG00000182871	ENST00000423214	.	.	.	5.04	-1.31	0.09230	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49031	-0.8981	4	.	.	.	.	10.1087	0.42550	0.0:0.4602:0.0:0.5398	.	.	.	.	M	248	.	.	T	+	2	0	COL18A1	45755548	0.003000	0.15002	0.966000	0.40874	0.558000	0.35554	-1.442000	0.02407	-0.507000	0.06549	-0.140000	0.14226	ACG		0.647	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
PCNT	5116	hgsc.bcm.edu	37	21	47836599	47836599	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:47836599C>T	ENST00000359568.5	+	30	6874	c.6767C>T	c.(6766-6768)gCc>gTc	p.A2256V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2256					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGTGCAGTGCCGACACATCC	0.692																																																	0			21											24.0	28.0	27.0					21																	47836599		2190	4246	6436	46661027	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6767C>T	21.37:g.47836599C>T	ENSP00000352572:p.Ala2256Val		46661027	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	1.369	-0.586498	0.03827	.	.	ENSG00000160299	ENST00000359568	T	0.01414	4.92	4.92	-1.13	0.09775	.	0.946058	0.08569	N	0.926353	T	0.01189	0.0039	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.12156	0.005;0.007	T	0.48043	-0.9069	10	0.25106	T	0.35	.	8.5361	0.33364	0.0:0.4858:0.0:0.5142	.	2138;2256	O95613-2;O95613	.;PCNT_HUMAN	V	2256	ENSP00000352572:A2256V	ENSP00000352572:A2256V	A	+	2	0	PCNT	46661027	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.427000	0.06999	-0.490000	0.06707	0.655000	0.94253	GCC		0.692	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
CAPN15	6650	hgsc.bcm.edu	37	16	597763	597763	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:597763C>A	ENST00000219611.2	+	4	1288	c.925C>A	c.(925-927)Cgc>Agc	p.R309S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	309					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGGCACCAGCCGCGTAGAGGC	0.692																																																	0			16											20.0	22.0	21.0					16																	597763		2173	4272	6445	537764	SO:0001583	missense	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.925C>A	16.37:g.597763C>A	ENSP00000219611:p.Arg309Ser		537764	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	c	4.646	0.120143	0.08881	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.88354	-2.37	4.69	2.72	0.32119	.	2.047000	0.02434	N	0.083840	T	0.80199	0.4579	N	0.14661	0.345	0.09310	N	1	B	0.28350	0.208	B	0.20384	0.029	T	0.66941	-0.5796	10	0.22706	T	0.39	.	8.4107	0.32642	0.0:0.8176:0.0:0.1824	.	309	O75808	CAN15_HUMAN	S	309	ENSP00000219611:R309S	ENSP00000219611:R309S	R	+	1	0	SOLH	537764	0.968000	0.33430	0.010000	0.14722	0.342000	0.28953	3.613000	0.54152	0.418000	0.25898	0.556000	0.70494	CGC		0.692	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632	
CACNA1H	8912	hgsc.bcm.edu	37	16	1254137	1254137	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:1254137G>A	ENST00000348261.5	+	10	2378	c.2130G>A	c.(2128-2130)ccG>ccA	p.P710P	RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Silent_p.P710P|CACNA1H_ENST00000358590.4_Silent_p.P710P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	710					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGGAGGACCCGGAGGGTGAGC	0.687																																																	0			16											19.0	25.0	23.0					16																	1254137		2107	4239	6346	1194138	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2130G>A	16.37:g.1254137G>A			1194138	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.687	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
IGFALS	3483	hgsc.bcm.edu	37	16	1841430	1841430	+	Missense_Mutation	SNP	G	G	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:1841430G>C	ENST00000215539.3	-	2	1099	c.989C>G	c.(988-990)gCt>gGt	p.A330G	IGFALS_ENST00000415638.3_Missense_Mutation_p.A368G			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	330					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GCTGCGCTCAGCCAGCTGCCG	0.662																																																	0			16											29.0	31.0	30.0					16																	1841430		2197	4299	6496	1781431	SO:0001583	missense	3483			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.989C>G	16.37:g.1841430G>C	ENSP00000215539:p.Ala330Gly		1781431	B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.642948	0.00792	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.22945	1.93;1.93	5.22	1.97	0.26223	.	0.571386	0.18561	N	0.137630	T	0.09512	0.0234	N	0.03281	-0.365	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.28586	-1.0039	10	0.26408	T	0.33	.	6.1707	0.20416	0.164:0.3043:0.5318:0.0	.	368;330	E9PGU3;P35858	.;ALS_HUMAN	G	330;368	ENSP00000215539:A330G;ENSP00000416683:A368G	ENSP00000215539:A330G	A	-	2	0	IGFALS	1781431	0.000000	0.05858	0.068000	0.19968	0.010000	0.07245	0.294000	0.19047	0.558000	0.29135	0.561000	0.74099	GCT		0.662	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2		
CREBBP	1387	hgsc.bcm.edu	37	16	3786783	3786783	+	Silent	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:3786783T>A	ENST00000262367.5	-	27	5237	c.4428A>T	c.(4426-4428)ccA>ccT	p.P1476P	CREBBP_ENST00000382070.3_Silent_p.P1438P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1476	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTCCTTCACTTGGAGGACAGG	0.507			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16											186.0	158.0	167.0					16																	3786783		2197	4300	6497	3726784	SO:0001819	synonymous_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4428A>T	16.37:g.3786783T>A			3726784	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	CCDS10509.1																																																																																				0.507	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	hgsc.bcm.edu	37	16	3801731	3801731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:3801731G>A	ENST00000262367.5	-	20	4584	c.3775C>T	c.(3775-3777)Cag>Tag	p.Q1259*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1221*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1259	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTACGTCTGGGGCTGTGAA	0.493			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16											210.0	151.0	171.0					16																	3801731		2197	4300	6497	3741732	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3775C>T	16.37:g.3801731G>A	ENSP00000262367:p.Gln1259*		3741732	D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	35	5.561725	0.96527	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.3082	0.94173	0.0:0.0:1.0:0.0	.	.	.	.	X	1259;1289;1221	.	ENSP00000262367:Q1259X	Q	-	1	0	CREBBP	3741732	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	2.539000	0.85634	0.655000	0.94253	CAG		0.493	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
PAM16	51025	hgsc.bcm.edu	37	16	4393260	4393260	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:4393260G>A	ENST00000318059.3	-	2	173	c.36C>T	c.(34-36)ggC>ggT	p.G12G	PAM16_ENST00000571941.1_Silent_p.G32G|PAM16_ENST00000573553.1_Silent_p.G32G|PAM16_ENST00000575942.1_5'Flank|PAM16_ENST00000575848.1_Silent_p.G24G|CORO7-PAM16_ENST00000572467.1_Silent_p.G935G|PAM16_ENST00000577031.1_Silent_p.G12G|PAM16_ENST00000576217.1_Silent_p.G12G|CORO7-PAM16_ENST00000572274.1_Intron	NM_016069.9	NP_057153.8	Q9Y3D7	TIM16_HUMAN	presequence translocase-associated motor 16 homolog (S. cerevisiae)	12					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane presequence translocase complex (GO:0005744)				lung(3)	3						CCACCTGCACGCCCATCACAA	0.637																																																	0			16											66.0	48.0	54.0					16																	4393260		2192	4295	6487	4333261	SO:0001819	synonymous_variant	0			AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930			29679	protein-coding gene	gene with protein product	"""mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction"""	614336				10810093, 11750097	Standard	NM_016069		Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000318059.3:c.36C>T	16.37:g.4393260G>A			4333261	Q6I9Z3|Q9H5X3	Silent	SNP	ENST00000318059.3	37	CCDS10512.1																																																																																				0.637	PAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251629.2	NM_016069	
SHISA9	729993	hgsc.bcm.edu	37	16	13328910	13328910	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:13328910T>C	ENST00000424107.3	+	5	1364	c.919T>C	c.(919-921)Tac>Cac	p.Y307H	SHISA9_ENST00000558583.1_Missense_Mutation_p.Y348H			B4DS77	SHSA9_HUMAN	shisa family member 9	307					regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|dendritic spine membrane (GO:0032591)|ionotropic glutamate receptor complex (GO:0008328)|synapse (GO:0045202)				breast(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						TGACGACTTCTACACCAAGCG	0.562																																																	0			16											39.0	49.0	46.0					16																	13328910		692	1591	2283	13236411	SO:0001583	missense	0				CCDS45417.1, CCDS45418.1, CCDS45417.2, CCDS45418.2	16p13.12	2013-07-31	2013-07-31		ENSG00000237515	ENSG00000237515		"""Shisa homologs"""	37231	protein-coding gene	gene with protein product		613346	"""shisa homolog 9 (Xenopus laevis)"""				Standard	NM_001145205		Approved		uc010uyy.2	B4DS77	OTTHUMG00000154258	ENST00000424107.3:c.919T>C	16.37:g.13328910T>C	ENSP00000407958:p.Tyr307His		13236411	C9J314|C9JCE9	Missense_Mutation	SNP	ENST00000424107.3	37	CCDS45417.2	.	.	.	.	.	.	.	.	.	.	T	18.88	3.718314	0.68844	.	.	ENSG00000237515	ENST00000424107	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	T	0.57975	0.2090	L	0.57536	1.79	0.80722	D	1	B	0.29612	0.251	B	0.28991	0.097	T	0.62124	-0.6920	8	0.87932	D	0	.	11.2794	0.49186	0.0:0.0:0.0:1.0	.	307	B4DS77	SHSA9_HUMAN	H	348	.	ENSP00000407958:Y348H	Y	+	1	0	SHISA9	13236411	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.607000	0.61133	1.690000	0.51089	0.374000	0.22700	TAC		0.562	SHISA9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334564.5	NM_001145204	
KIAA0430	9665	hgsc.bcm.edu	37	16	15704938	15704938	+	Silent	SNP	A	A	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:15704938A>T	ENST00000396368.3	-	19	3851	c.3645T>A	c.(3643-3645)acT>acA	p.T1215T	CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Silent_p.T1050T|KIAA0430_ENST00000551742.1_Silent_p.T1215T|KIAA0430_ENST00000548025.1_Silent_p.T1212T|KIAA0430_ENST00000602337.1_Silent_p.T1212T|KIAA0430_ENST00000344181.3_Silent_p.T817T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1215	HTH OST-type 4. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACCATATTCAGTGACATCCC	0.423																																																	0			16											161.0	148.0	152.0					16																	15704938		1928	4135	6063	15612439	SO:0001819	synonymous_variant	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3645T>A	16.37:g.15704938A>T			15612439	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	CCDS10562.2																																																																																				0.423	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	
MYH11	4629	hgsc.bcm.edu	37	16	15808860	15808860	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:15808860C>T	ENST00000300036.5	-	40	5801	c.5692G>A	c.(5692-5694)Gcc>Acc	p.A1898T	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.A1905T|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.A1905T|MYH11_ENST00000576790.2_Missense_Mutation_p.A1898T|NDE1_ENST00000342673.5_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1898					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGCGGTTGGCGTTGATGCGC	0.637			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0			16											133.0	125.0	127.0					16																	15808860		2197	4300	6497	15716361	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5692G>A	16.37:g.15808860C>T	ENSP00000300036:p.Ala1898Thr		15716361	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887212	0.91814	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	4.76	4.76	0.60689	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	L	0.55213	1.73	0.80722	D	1	P;D;D;D;D	0.69078	0.856;0.997;0.997;0.997;0.997	P;D;D;D;D	0.66084	0.507;0.941;0.941;0.941;0.941	D	0.84162	0.0429	10	0.40728	T	0.16	.	16.7535	0.85493	0.0:1.0:0.0:0.0	.	1905;1898;1905;1898;1905	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	1898;1898;1905;1905;1905	ENSP00000300036:A1898T;ENSP00000345136:A1898T;ENSP00000379616:A1905T;ENSP00000407821:A1905T	ENSP00000300036:A1898T	A	-	1	0	MYH11	15716361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.902000	0.69869	2.177000	0.69029	0.455000	0.32223	GCC		0.637	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
SMG1	23049	hgsc.bcm.edu	37	16	18853072	18853072	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:18853072A>G	ENST00000446231.2	-	41	6923	c.6511T>C	c.(6511-6513)Tct>Cct	p.S2171P	SMG1_ENST00000389467.3_Missense_Mutation_p.S2171P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2171	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		S -> C (in a breast pleomorphic lobular carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCACAATAGATAGGAACTGC	0.398																																																	0			16											248.0	233.0	238.0					16																	18853072		1888	4110	5998	18760573	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6511T>C	16.37:g.18853072A>G	ENSP00000402515:p.Ser2171Pro		18760573	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121998	0.77436	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	D;D	0.82081	-1.57;-1.57	5.48	5.48	0.80851	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.64402	D	0.000003	D	0.92251	0.7542	M	0.89353	3.025	0.49483	D	0.999792	D;D	0.69078	0.997;0.997	D;D	0.81914	0.986;0.995	D	0.93505	0.6848	10	0.66056	D	0.02	.	15.8631	0.79040	1.0:0.0:0.0:0.0	.	2031;2171	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	P	2171	ENSP00000402515:S2171P;ENSP00000374118:S2171P	ENSP00000374118:S2171P	S	-	1	0	SMG1	18760573	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	9.212000	0.95126	2.198000	0.70561	0.533000	0.62120	TCT		0.398	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
OTOA	146183	hgsc.bcm.edu	37	16	21693081	21693081	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:21693081C>A	ENST00000286149.4	+	5	203	c.202C>A	c.(202-204)Ctg>Atg	p.L68M	OTOA_ENST00000388956.4_5'Flank|OTOA_ENST00000388958.3_Missense_Mutation_p.L68M			Q7RTW8	OTOAN_HUMAN	otoancorin	68					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GACGGATGACCTGTCCCACAG	0.507																																																	0			16											176.0	131.0	146.0					16																	21693081		2199	4300	6499	21600582	SO:0001583	missense	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.202C>A	16.37:g.21693081C>A	ENSP00000286149:p.Leu68Met		21600582	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	C	12.13	1.846112	0.32606	.	.	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.73789	-0.78;-0.77	5.93	3.99	0.46301	.	0.425292	0.21899	N	0.067474	T	0.70710	0.3255	L	0.52364	1.645	0.80722	D	1	P	0.52316	0.952	P	0.47673	0.554	T	0.71659	-0.4526	10	0.54805	T	0.06	-5.1637	8.1377	0.31064	0.0:0.8243:0.0:0.1757	.	68	E9PF51	.	M	68	ENSP00000373610:L68M;ENSP00000286149:L68M	ENSP00000286149:L68M	L	+	1	2	OTOA	21600582	0.993000	0.37304	0.997000	0.53966	0.027000	0.11550	0.755000	0.26405	1.527000	0.49086	-0.136000	0.14681	CTG		0.507	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
GGA2	23062	hgsc.bcm.edu	37	16	23481450	23481450	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:23481450C>A	ENST00000309859.4	-	15	1569	c.1487G>T	c.(1486-1488)gGa>gTa	p.G496V	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	496	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AATTCTGAATCCATTCCGGTC	0.582																																																	0			16											64.0	64.0	64.0					16																	23481450		2197	4300	6497	23388951	SO:0001583	missense	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1487G>T	16.37:g.23481450C>A	ENSP00000311962:p.Gly496Val		23388951	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974632	0.74360	.	.	ENSG00000103365	ENST00000309859	T	0.37584	1.19	4.93	4.93	0.64822	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.85373	2.75	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.69304	-0.5180	10	0.56958	D	0.05	-19.1322	15.9976	0.80262	0.0:1.0:0.0:0.0	.	496	Q9UJY4	GGA2_HUMAN	V	496	ENSP00000311962:G496V	ENSP00000311962:G496V	G	-	2	0	GGA2	23388951	0.994000	0.37717	0.955000	0.39395	0.704000	0.40688	6.808000	0.75206	2.418000	0.82041	0.561000	0.74099	GGA		0.582	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
PRKCB	5579	hgsc.bcm.edu	37	16	24105581	24105581	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:24105581G>T	ENST00000321728.7	+	7	959	c.784G>T	c.(784-786)Ggg>Tgg	p.G262W	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Missense_Mutation_p.G262W	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	262					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.G262R(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TTTGTCCTTTGGGATTTCTGA	0.448																																																	2	Substitution - Missense(2)	lung(2)	16											158.0	143.0	148.0					16																	24105581		2197	4300	6497	24013082	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.784G>T	16.37:g.24105581G>T	ENSP00000318315:p.Gly262Trp		24013082	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537773	0.85917	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.45276	0.9;0.9	5.52	5.52	0.82312	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	M	0.87381	2.88	0.80722	D	1	P;P	0.42620	0.785;0.68	P;P	0.52031	0.688;0.623	T	0.70857	-0.4758	10	0.87932	D	0	.	18.4466	0.90686	0.0:0.0:1.0:0.0	.	262;262	P05771-2;P05771	.;KPCB_HUMAN	W	262	ENSP00000318315:G262W;ENSP00000305355:G262W	ENSP00000305355:G262W	G	+	1	0	PRKCB	24013082	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.468000	0.97676	2.581000	0.87130	0.655000	0.94253	GGG		0.448	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
MAZ	4150	hgsc.bcm.edu	37	16	29821438	29821438	+	Silent	SNP	G	G	A	rs199924629|rs374878500		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:29821438G>A	ENST00000322945.6	+	5	1485	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A	PRRT2_ENST00000567659.1_5'Flank|PRRT2_ENST00000300797.6_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000545521.1_Silent_p.A417A|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000568544.1_Silent_p.A41A|MAZ_ENST00000566906.2_Splice_Site_p.G95S|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Silent_p.A135A|MAZ_ENST00000563402.1_Missense_Mutation_p.G97S|MAZ_ENST00000219782.6_3'UTR|AC009133.14_ENST00000563806.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	440	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						cagcggcagcggcggcagcgg	0.662																																					Colon(72;875 1167 15364 30899 37091)												0			16						A	,	29,4087		0,29,2029	16.0	21.0	19.0		,1320	-7.8	0.0	16		19	32,8282		0,32,4125	no	utr-3,coding-synonymous	MAZ	NM_001042539.1,NM_002383.2	,	0,61,6154	AA,AG,GG		0.3849,0.7046,0.4907	,	,440/478	29821438	61,12369	2058	4157	6215	29728939	SO:0001819	synonymous_variant	4150			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1320G>A	16.37:g.29821438G>A			29728939	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Silent	SNP	ENST00000322945.6	37	CCDS42143.1																																																																																				0.662	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383	
ZNF785	146540	hgsc.bcm.edu	37	16	30594477	30594477	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:30594477G>A	ENST00000395216.2	-	3	781	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R193C|AC002310.7_ENST00000492040.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TGGGAGAAACGCGCCTGACAC	0.692																																																	0			16											40.0	43.0	42.0					16																	30594477		2197	4299	6496	30501978	SO:0001583	missense	146540			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.622C>T	16.37:g.30594477G>A	ENSP00000378642:p.Arg208Cys		30501978	O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383427	0.42207	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.29397	1.57;1.57	4.34	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16854	0.0405	N	0.20881	0.62	0.09310	N	1	B;B;B	0.31351	0.028;0.32;0.022	B;B;B	0.27500	0.008;0.08;0.005	T	0.18304	-1.0341	9	0.51188	T	0.08	.	3.9921	0.09541	0.3226:0.1743:0.5031:0.0	.	173;208;193	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	C	193;173;208	ENSP00000420340:R193C;ENSP00000378642:R208C	ENSP00000378642:R208C	R	-	1	0	ZNF785	30501978	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	-0.759000	0.04761	0.095000	0.17434	-0.374000	0.07098	CGT		0.692	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458	
ADCY7	113	hgsc.bcm.edu	37	16	50332842	50332842	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:50332842C>T	ENST00000394697.2	+	8	1316	c.976C>T	c.(976-978)Ctc>Ttc	p.L326F	ADCY7_ENST00000538642.1_Missense_Mutation_p.L326F|ADCY7_ENST00000537579.1_Missense_Mutation_p.L326F|ADCY7_ENST00000254235.3_Missense_Mutation_p.L326F|ADCY7_ENST00000566433.2_Missense_Mutation_p.L326F|ADCY7_ENST00000564044.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	326	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|cellular response to ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		AATCAAGATCCTCGGCGACTG	0.637																																																	0			16											122.0	93.0	103.0					16																	50332842		2198	4300	6498	48890343	SO:0001583	missense	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.976C>T	16.37:g.50332842C>T	ENSP00000378187:p.Leu326Phe		48890343	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820180	0.71028	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.51	3.21	0.36854	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.35013	U	0.003519	D	0.92519	0.7624	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92879	0.6321	10	0.87932	D	0	.	9.5236	0.39152	0.0:0.7037:0.0:0.2963	.	326;326	P51828;F5H4D1	ADCY7_HUMAN;.	F	326	ENSP00000445046:L326F;ENSP00000378187:L326F;ENSP00000437788:L326F;ENSP00000254235:L326F	ENSP00000254235:L326F	L	+	1	0	ADCY7	48890343	0.999000	0.42202	1.000000	0.80357	0.702000	0.40608	1.036000	0.30228	1.323000	0.45263	0.491000	0.48974	CTC		0.637	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
DRC7	84229	hgsc.bcm.edu	37	16	57741449	57741449	+	Silent	SNP	C	C	T	rs368181149		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:57741449C>T	ENST00000360716.3	+	8	1157	c.936C>T	c.(934-936)cgC>cgT	p.R312R	CCDC135_ENST00000394337.4_Silent_p.R312R|CCDC135_ENST00000336825.8_Silent_p.R247R			Q8IY82	CC135_HUMAN		312					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CGGGGAAGCGCGAGGTGCCTG	0.587																																																	0			16						C		0,4396		0,0,2198	76.0	70.0	72.0		936	-10.1	0.0	16		72	1,8599		0,1,4299	no	coding-synonymous	CCDC135	NM_032269.5		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		312/875	57741449	1,12995	2198	4300	6498	56298950	SO:0001819	synonymous_variant	84229																														ENST00000360716.3:c.936C>T	16.37:g.57741449C>T			56298950	A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	CCDS10787.1																																																																																				0.587	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2		
MMP15	4324	hgsc.bcm.edu	37	16	58073969	58073969	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:58073969C>T	ENST00000219271.3	+	4	1416	c.631C>T	c.(631-633)Ccg>Tcg	p.P211S		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	211					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CGACAGCTCGCCGTTTGATGG	0.627																																																	0			16											62.0	57.0	59.0					16																	58073969		2198	4300	6498	56631470	SO:0001583	missense	4324			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.631C>T	16.37:g.58073969C>T	ENSP00000219271:p.Pro211Ser		56631470	A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979620	0.92982	.	.	ENSG00000102996	ENST00000219271	T	0.22539	1.95	4.69	4.69	0.59074	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52586	-0.8556	10	0.66056	D	0.02	.	16.5944	0.84792	0.0:1.0:0.0:0.0	.	211	P51511	MMP15_HUMAN	S	211	ENSP00000219271:P211S	ENSP00000219271:P211S	P	+	1	0	MMP15	56631470	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	6.073000	0.71245	2.162000	0.67917	0.462000	0.41574	CCG		0.627	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428	
NDRG4	65009	hgsc.bcm.edu	37	16	58545393	58545393	+	Silent	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:58545393G>T	ENST00000570248.1	+	15	1078	c.972G>T	c.(970-972)gtG>gtT	p.V324V	NDRG4_ENST00000563799.1_Silent_p.V329V|NDRG4_ENST00000562999.1_Silent_p.V299V|NDRG4_ENST00000566192.1_Silent_p.V311V|NDRG4_ENST00000356752.4_Silent_p.V341V|NDRG4_ENST00000568640.1_Silent_p.V329V|NDRG4_ENST00000569923.1_Silent_p.V256V|NDRG4_ENST00000394282.4_Silent_p.V363V|NDRG4_ENST00000258187.5_Silent_p.V343V|NDRG4_ENST00000394279.2_Silent_p.V343V	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	324					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CCAGCTCGGTGGATGGCAGCC	0.657																																																	0			16											63.0	59.0	61.0					16																	58545393		2198	4299	6497	57102894	SO:0001819	synonymous_variant	65009			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.972G>T	16.37:g.58545393G>T			57102894	B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	CCDS58466.1																																																																																				0.657	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2		
CENPT	80152	hgsc.bcm.edu	37	16	67859872	67859872	+	IGR	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:67859872T>C	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.L346P|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.L277P|TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.L292P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CATGAGATCCTCATGCAGCTG	0.617																																																	0			16											59.0	49.0	53.0					16																	67859872		2198	4300	6498	66417373	SO:0001628	intergenic_variant	55815			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67859872T>C			66417373	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.132469	0.37630	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.8	5.8	0.92144	.	0.000000	0.50627	D	0.000109	T	0.78039	0.4221	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.80538	-0.1338	9	0.87932	D	0	-12.1782	14.3848	0.66938	0.0:0.0:0.0:1.0	.	277;346;82;292	E7ENJ7;B4DXD0;B4DY78;Q2TAA8	.;.;.;TXIP1_HUMAN	P	277;292;82	.	ENSP00000373485:L292P	L	+	2	0	TSNAXIP1	66417373	1.000000	0.71417	0.757000	0.31301	0.006000	0.05464	5.024000	0.64090	2.209000	0.71365	0.533000	0.62120	CTC		0.617	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082	
CENPT	80152	hgsc.bcm.edu	37	16	67862654	67862654	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:67862654G>A	ENST00000562787.1	-	14	1921	c.1373C>T	c.(1372-1374)gCt>gTt	p.A458V	CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000219172.3_Missense_Mutation_p.A458V|CENPT_ENST00000440851.2_Missense_Mutation_p.A458V|CENPT_ENST00000564817.1_Missense_Mutation_p.A403V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	458					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCTCAGTCCAGCCTTGTGGGG	0.592																																																	0			16											136.0	137.0	137.0					16																	67862654		1880	4120	6000	66420155	SO:0001583	missense	80152			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1373C>T	16.37:g.67862654G>A	ENSP00000457810:p.Ala458Val		66420155	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453512	0.63290	.	.	ENSG00000102901	ENST00000440851;ENST00000436104;ENST00000219172	T;T	0.47528	0.84;0.84	5.8	3.86	0.44501	Histone-fold (2);	0.890950	0.09832	N	0.750037	T	0.44953	0.1318	L	0.47716	1.5	0.49687	D	0.999819	P;P;P	0.45531	0.86;0.573;0.573	P;B;B	0.44561	0.453;0.197;0.143	T	0.10268	-1.0637	10	0.36615	T	0.2	0.0794	8.6019	0.33749	0.1732:0.0:0.8268:0.0	.	216;458;458	F5H5A6;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	V	458;216;458	ENSP00000400140:A458V;ENSP00000219172:A458V	ENSP00000219172:A458V	A	-	2	0	CENPT	66420155	0.052000	0.20516	0.475000	0.27278	0.674000	0.39518	0.648000	0.24828	0.801000	0.34066	0.655000	0.94253	GCT		0.592	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082	
DPEP2	64174	hgsc.bcm.edu	37	16	68021797	68021797	+	Silent	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:68021797G>T	ENST00000572888.1	-	9	1814	c.1164C>A	c.(1162-1164)gtC>gtA	p.V388V	DPEP2_ENST00000393847.1_Silent_p.V388V|DPEP2_ENST00000412757.2_Silent_p.V388V			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	388					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTCCACGAAGGACACCCTGAA	0.562																																																	0			16											132.0	129.0	130.0					16																	68021797		2198	4300	6498	66579298	SO:0001819	synonymous_variant	64174			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1164C>A	16.37:g.68021797G>T			66579298	B2RCF8|Q6UX92|Q8TC95	Silent	SNP	ENST00000572888.1	37	CCDS10857.1																																																																																				0.562	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355	
HPR	3250	hgsc.bcm.edu	37	16	72110329	72110329	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:72110329G>A	ENST00000540303.2	+	5	428	c.396G>A	c.(394-396)acG>acA	p.T132T	HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Silent_p.T132T|HPR_ENST00000228226.8_Silent_p.T169T	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	132	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CAGGGGCCACGCTGATCAATG	0.512																																																	0			16											93.0	63.0	73.0					16																	72110329		2054	4194	6248	70667830	SO:0001819	synonymous_variant	3250			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.396G>A	16.37:g.72110329G>A			70667830	Q7LE20|Q92658|Q92659|Q9ULB0	Silent	SNP	ENST00000540303.2	37	CCDS42193.1																																																																																				0.512	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995	
DNAAF1	123872	hgsc.bcm.edu	37	16	84199422	84199422	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:84199422C>T	ENST00000378553.5	+	7	1021	c.897C>T	c.(895-897)taC>taT	p.Y299Y	DNAAF1_ENST00000334315.5_Silent_p.Y299Y|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	299					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGGGAGGGTACGCAGCTGAAA	0.512																																																	0			16											146.0	145.0	146.0					16																	84199422		2200	4300	6500	82756923	SO:0001819	synonymous_variant	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.897C>T	16.37:g.84199422C>T			82756923	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	CCDS10943.2																																																																																				0.512	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	
PABPN1L	390748	hgsc.bcm.edu	37	16	88932296	88932296	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:88932296C>T	ENST00000419291.2	-	2	320	c.309G>A	c.(307-309)acG>acA	p.T103T	PABPN1L_ENST00000427766.1_Silent_p.T103T|PABPN1L_ENST00000411789.2_Silent_p.T103T|PABPN1L_ENST00000378358.4_Silent_p.T103T	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	103						cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						GAGGCCGTGGCGTCCCCTCGG	0.687																																																	0			16											24.0	29.0	28.0					16																	88932296		2091	4202	6293	87459797	SO:0001819	synonymous_variant	0				CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"""RNA binding motif (RRM) containing"""	37237	protein-coding gene	gene with protein product	"""embryonic poly(A) binding protein 2"""					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.309G>A	16.37:g.88932296C>T			87459797	A1L3B3|A2VDI2	Silent	SNP	ENST00000419291.2	37	CCDS45547.2																																																																																				0.687	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407502.1	NM_001080487	
LAMA1	284217	hgsc.bcm.edu	37	18	7037668	7037668	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:7037668C>T	ENST00000389658.3	-	12	1739	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	549	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GACCTGATGGCGCCCGCCTAG	0.547																																																	0			18											101.0	86.0	91.0					18																	7037668		2203	4300	6503	7027668	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1646G>A	18.37:g.7037668C>T	ENSP00000374309:p.Arg549His		7027668		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	1.463	-0.561898	0.03939	.	.	ENSG00000101680	ENST00000389658	T	0.18810	2.19	5.43	-2.56	0.06268	Laminin B type IV (1);	0.503483	0.19469	N	0.113485	T	0.06280	0.0162	N	0.04508	-0.205	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.16719	-1.0393	10	0.42905	T	0.14	.	0.8027	0.01078	0.1889:0.1742:0.2728:0.3641	.	549	P25391	LAMA1_HUMAN	H	549	ENSP00000374309:R549H	ENSP00000374309:R549H	R	-	2	0	LAMA1	7027668	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.244000	0.08903	-0.553000	0.06158	-0.221000	0.12465	CGC		0.547	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
PIEZO2	63895	hgsc.bcm.edu	37	18	10677755	10677755	+	Silent	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:10677755T>C	ENST00000503781.3	-	49	7730	c.7731A>G	c.(7729-7731)tcA>tcG	p.S2577S	PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Silent_p.S2602S|PIEZO2_ENST00000538948.1_Silent_p.S534S|PIEZO2_ENST00000285141.4_Silent_p.S369S|PIEZO2_ENST00000302079.6_Silent_p.S2514S	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2577					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CTGGTGTTTTTGAACTTTCTG	0.343																																																	0			18											143.0	134.0	137.0					18																	10677755		2202	4300	6502	10667755	SO:0001819	synonymous_variant	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7731A>G	18.37:g.10677755T>C			10667755	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37																																																																																					0.343	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068	
SPIRE1	56907	hgsc.bcm.edu	37	18	12463405	12463405	+	Missense_Mutation	SNP	G	G	A	rs141286455		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:12463405G>A	ENST00000409402.4	-	12	1850	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	SPIRE1_ENST00000453447.2_Missense_Mutation_p.T394M|SPIRE1_ENST00000309836.5_Missense_Mutation_p.T317M|SPIRE1_ENST00000383356.2_Missense_Mutation_p.T355M|SPIRE1_ENST00000410092.3_Missense_Mutation_p.T514M|SPIRE1_ENST00000464481.1_5'UTR	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GTTAGTAGGCGTTTCCTTTTC	0.502																																																	0			18						G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	126.0	115.0	119.0		1583,1181,1541	5.4	1.0	18	dbSNP_134	119	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	SPIRE1	NM_001128626.1,NM_001128627.1,NM_020148.2	81,81,81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	528/757,394/623,514/743	12463405	3,13003	2203	4300	6503	12453405	SO:0001583	missense	56907			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1583C>T	18.37:g.12463405G>A	ENSP00000387266:p.Thr528Met		12453405		Missense_Mutation	SNP	ENST00000409402.4	37	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523161	0.85600	2.27E-4	2.33E-4	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.48522	0.83;1.42;1.41;0.83;0.81	5.41	5.41	0.78517	.	0.093182	0.85682	D	0.000000	T	0.69079	0.3071	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.97;0.949;0.998	T	0.70073	-0.4972	10	0.62326	D	0.03	-11.2978	19.5527	0.95328	0.0:0.0:1.0:0.0	.	514;317;528	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	M	394;528;514;317;355	ENSP00000407050:T394M;ENSP00000387266:T528M;ENSP00000387226:T514M;ENSP00000309661:T317M;ENSP00000372847:T355M	ENSP00000309661:T317M	T	-	2	0	SPIRE1	12453405	1.000000	0.71417	0.954000	0.39281	0.925000	0.55904	9.084000	0.94076	2.705000	0.92388	0.585000	0.79938	ACG		0.502	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818	
CEP192	55125	hgsc.bcm.edu	37	18	13029760	13029760	+	5'UTR	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:13029760T>C	ENST00000325971.8	+	0	1229				CEP192_ENST00000430049.2_5'Flank|CEP192_ENST00000506447.1_Silent_p.G383G			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa						centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATAGAGGTGGTTTTGATCTGA	0.428																																																	0			18											88.0	72.0	77.0					18																	13029760		692	1591	2283	13019760	SO:0001623	5_prime_UTR_variant	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.-365T>C	18.37:g.13029760T>C			13019760	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37																																																																																					0.428	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
ROCK1	6093	hgsc.bcm.edu	37	18	18546988	18546988	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:18546988G>T	ENST00000399799.2	-	27	4182	c.3242C>A	c.(3241-3243)gCc>gAc	p.A1081D		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1081					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCTTTGCTGGCCAACTGCAT	0.373																																																	0			18											171.0	153.0	159.0					18																	18546988		2203	4300	6503	16800986	SO:0001583	missense	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3242C>A	18.37:g.18546988G>T	ENSP00000382697:p.Ala1081Asp		16800986	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	5.143	0.211996	0.09757	.	.	ENSG00000067900	ENST00000399799	T	0.14266	2.52	5.62	4.73	0.59995	.	0.109437	0.64402	D	0.000014	T	0.02767	0.0083	N	0.00223	-1.815	0.36894	D	0.890078	B	0.02656	0.0	B	0.01281	0.0	T	0.34675	-0.9819	10	0.02654	T	1	.	12.8531	0.57869	0.0:0.0:0.5518:0.4481	.	1081	Q13464	ROCK1_HUMAN	D	1081	ENSP00000382697:A1081D	ENSP00000382697:A1081D	A	-	2	0	ROCK1	16800986	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.604000	0.61112	1.351000	0.45789	0.591000	0.81541	GCC		0.373	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
KCTD1	284252	hgsc.bcm.edu	37	18	24039635	24039635	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:24039635C>T	ENST00000408011.3	-	4	1123	c.564G>A	c.(562-564)acG>acA	p.T188T	KCTD1_ENST00000317932.7_Silent_p.T188T|KCTD1_ENST00000417602.1_Silent_p.T796T|KCTD1_ENST00000580059.1_Silent_p.T188T|KCTD1_ENST00000579973.1_Silent_p.T188T	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	188					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TGATGACGTGCGTCGAGTCGT	0.473																																																	0			18											173.0	143.0	153.0					18																	24039635		2203	4300	6503	22293633	SO:0001819	synonymous_variant	284252			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.564G>A	18.37:g.24039635C>T			22293633	A8K1F5	Silent	SNP	ENST00000408011.3	37	CCDS11888.1																																																																																				0.473	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091	
CHST9	83539	hgsc.bcm.edu	37	18	24496363	24496363	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:24496363T>C	ENST00000284224.8	-	6	1469	c.1192A>G	c.(1192-1194)Agg>Ggg	p.R398G	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.R398G|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	398					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GAAGAGTGCCTATCCTTAAAG	0.368																																																	0			18											155.0	142.0	146.0					18																	24496363		1839	4091	5930	22750361	SO:0001583	missense	83539			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1192A>G	18.37:g.24496363T>C	ENSP00000284224:p.Arg398Gly		22750361	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610254	0.46527	.	.	ENSG00000154080	ENST00000284224	T	0.73681	-0.77	6.07	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.74191	0.3684	L	0.35542	1.07	0.80722	D	1	B	0.29162	0.235	P	0.45343	0.477	T	0.71111	-0.4687	10	0.38643	T	0.18	-25.1503	13.5852	0.61926	0.0:0.0:0.1297:0.8703	.	398	Q7L1S5	CHST9_HUMAN	G	398	ENSP00000284224:R398G	ENSP00000284224:R398G	R	-	1	2	CHST9	22750361	1.000000	0.71417	0.960000	0.40013	0.976000	0.68499	3.206000	0.51098	1.100000	0.41517	0.533000	0.62120	AGG		0.368	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422	
ST8SIA5	29906	hgsc.bcm.edu	37	18	44268805	44268805	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:44268805A>G	ENST00000315087.7	-	4	1049	c.389T>C	c.(388-390)cTc>cCc	p.L130P	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.L166P|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.L99P|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	130					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CTCATACTTGAGCTTTGTCCC	0.597																																																	0			18											168.0	143.0	151.0					18																	44268805		2203	4300	6503	42522803	SO:0001583	missense	29906			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.389T>C	18.37:g.44268805A>G	ENSP00000321343:p.Leu130Pro		42522803	B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437410	0.83885	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.34472	1.36;1.36;1.36	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.997;1.0	T	0.73030	-0.4111	10	0.87932	D	0	-8.5351	15.7574	0.78046	1.0:0.0:0.0:0.0	.	99;166;130	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	P	130;166;99	ENSP00000321343:L130P;ENSP00000445492:L166P;ENSP00000443683:L99P	ENSP00000321343:L130P	L	-	2	0	ST8SIA5	42522803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.932000	0.92897	2.125000	0.65367	0.459000	0.35465	CTC		0.597	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	
SMAD4	4089	hgsc.bcm.edu	37	18	48593497	48593497	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:48593497A>G	ENST00000342988.3	+	10	1786	c.1248A>G	c.(1246-1248)agA>agG	p.R416R	SMAD4_ENST00000398417.2_Silent_p.R416R|SMAD4_ENST00000588745.1_Silent_p.R320R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	416	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.R416S(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ACTTAGACAGAGAAGCTGGGC	0.413																																																	39	Whole gene deletion(36)|Unknown(2)|Substitution - Missense(1)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	18											162.0	133.0	143.0					18																	48593497		2203	4300	6503	46847495	SO:0001819	synonymous_variant	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1248A>G	18.37:g.48593497A>G			46847495	A8K405	Silent	SNP	ENST00000342988.3	37	CCDS11950.1																																																																																				0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
POLI	11201	hgsc.bcm.edu	37	18	51813701	51813701	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:51813701G>A	ENST00000579534.1	+	8	1261	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q	POLI_ENST00000406285.3_Missense_Mutation_p.R294Q|POLI_ENST00000582366.1_3'UTR|POLI_ENST00000217800.5_Missense_Mutation_p.R247Q|POLI_ENST00000579434.1_Missense_Mutation_p.R270Q	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	373	DNA binding.				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)			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)		ATAATCCGTCGGTATTCCTCT	0.388								DNA polymerases (catalytic subunits)																																									0			18											90.0	84.0	86.0					18																	51813701		2203	4300	6503	50067699	SO:0001583	missense	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.1118G>A	18.37:g.51813701G>A	ENSP00000462664:p.Arg373Gln		50067699	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844861	0.32606	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.48836	0.8	5.55	5.55	0.83447	DNA polymerase, Y-family, little finger domain (2);	0.146210	0.49305	D	0.000148	T	0.52322	0.1727	L	0.31926	0.97	0.39907	D	0.97397	D;D	0.76494	0.999;0.988	D;B	0.67725	0.953;0.385	T	0.53019	-0.8497	10	0.42905	T	0.14	-11.1732	8.5897	0.33679	0.1628:0.0:0.8372:0.0	.	293;373	B7Z780;Q9UNA4	.;POLI_HUMAN	Q	294;373	ENSP00000385196:R294Q	ENSP00000217800:R373Q	R	+	2	0	POLI	50067699	0.995000	0.38212	0.954000	0.39281	0.456000	0.32438	3.141000	0.50593	2.618000	0.88619	0.655000	0.94253	CGG		0.388	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
PIGN	23556	hgsc.bcm.edu	37	18	59825011	59825011	+	Silent	SNP	G	G	A	rs34096683		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:59825011G>A	ENST00000357637.5	-	5	667	c.252C>T	c.(250-252)ggC>ggT	p.G84G	PIGN_ENST00000400334.3_Silent_p.G84G	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	84					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TATGAGATATGCCCCAGCTGC	0.393																																																	0			18											61.0	58.0	59.0					18																	59825011		1921	4154	6075	57975991	SO:0001819	synonymous_variant	23556			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.252C>T	18.37:g.59825011G>A			57975991	Q7L8F8|Q8TC01|Q9NT05	Silent	SNP	ENST00000357637.5	37	CCDS45879.1																																																																																				0.393	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787	
TMX3	54495	hgsc.bcm.edu	37	18	66364524	66364524	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:66364524G>A	ENST00000299608.2	-	8	825	c.509C>T	c.(508-510)gCt>gTt	p.A170V	TMX3_ENST00000562706.1_Missense_Mutation_p.A170V|TMX3_ENST00000443099.2_Missense_Mutation_p.A143V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	170					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TTCTGAAGCAGCATCTATGTA	0.289																																																	0			18											36.0	36.0	36.0					18																	66364524		2199	4289	6488	64515504	SO:0001583	missense	54495			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.509C>T	18.37:g.66364524G>A	ENSP00000299608:p.Ala170Val		64515504	B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	4.075	0.011747	0.07912	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T	0.29142	1.58;2.75	5.52	2.34	0.29019	.	0.310261	0.34828	N	0.003649	T	0.07458	0.0188	N	0.00483	-1.445	0.48452	D	0.999651	B;B;B	0.18013	0.007;0.011;0.025	B;B;B	0.24701	0.004;0.018;0.055	T	0.10870	-1.0611	10	0.13470	T	0.59	.	5.4444	0.16527	0.4759:0.0:0.5241:0.0	.	143;170;170	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	V	170;170;143	ENSP00000299608:A170V;ENSP00000402605:A143V	ENSP00000299608:A170V	A	-	2	0	TMX3	64515504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.282000	0.43461	0.696000	0.31696	0.655000	0.94253	GCT		0.289	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022	
SOCS6	9306	hgsc.bcm.edu	37	18	67992660	67992660	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:67992660G>A	ENST00000397942.3	+	2	1072	c.756G>A	c.(754-756)gcG>gcA	p.A252A	SOCS6_ENST00000582322.1_Silent_p.A252A	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	252					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				AAGTCTCTGCGGTTCCTCCTC	0.532																																					Melanoma(84;1024 1361 24382 36583 42651)												0			18											95.0	78.0	84.0					18																	67992660		2203	4300	6503	66143640	SO:0001819	synonymous_variant	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.756G>A	18.37:g.67992660G>A			66143640	Q8WUM3	Silent	SNP	ENST00000397942.3	37	CCDS11998.1																																																																																				0.532	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2		
CNDP2	55748	hgsc.bcm.edu	37	18	72185802	72185802	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:72185802C>T	ENST00000324262.4	+	10	1453	c.1137C>T	c.(1135-1137)ggC>ggT	p.G379G	CNDP2_ENST00000579847.1_Silent_p.G379G|CNDP2_ENST00000324301.8_Silent_p.G295G	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	379					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGTACATGGGCCACGGTGGGA	0.502																																																	0			18											129.0	121.0	123.0					18																	72185802		2203	4300	6503	70336782	SO:0001819	synonymous_variant	55748			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1137C>T	18.37:g.72185802C>T			70336782	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	CCDS12006.1																																																																																				0.502	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	
ADNP2	22850	hgsc.bcm.edu	37	18	77895441	77895441	+	Silent	SNP	G	G	A	rs117499189	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:77895441G>A	ENST00000262198.4	+	4	2600	c.2145G>A	c.(2143-2145)gcG>gcA	p.A715A		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	715					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGGAGGTAGCGCATAAGCACA	0.522													G|||	12	0.00239617	0.0	0.0	5008	,	,		22436	0.0119		0.0	False		,,,				2504	0.0																0			18						G		2,4404	4.2+/-10.8	0,2,2201	150.0	140.0	144.0		2145	-6.3	0.8	18	dbSNP_132	144	0,8600		0,0,4300	no	coding-synonymous	ADNP2	NM_014913.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		715/1132	77895441	2,13004	2203	4300	6503	75996432	SO:0001819	synonymous_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2145G>A	18.37:g.77895441G>A			75996432	A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	CCDS32853.1																																																																																				0.522	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
NUP210	23225	hgsc.bcm.edu	37	3	13407493	13407493	+	Missense_Mutation	SNP	C	C	T	rs141744656	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:13407493C>T	ENST00000254508.5	-	14	1967	c.1885G>A	c.(1885-1887)Gtc>Atc	p.V629I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	629					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTCAGGTGGACGTGGCCGTGT	0.647													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16721	0.0		0.0	False		,,,				2504	0.0																0			3						C	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	121.0	111.0	115.0		1885	-2.0	0.9	3	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NUP210	NM_024923.2	29	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	629/1888	13407493	5,13001	2203	4300	6503	13382493	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1885G>A	3.37:g.13407493C>T	ENSP00000254508:p.Val629Ile		13382493	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	7.289	0.610705	0.14066	9.08E-4	1.16E-4	ENSG00000132182	ENST00000254508	T	0.04917	3.53	5.21	-2.04	0.07343	.	0.532272	0.19600	N	0.110401	T	0.03959	0.0111	N	0.16790	0.44	0.40431	D	0.979948	B;B	0.21821	0.061;0.009	B;B	0.17098	0.017;0.005	T	0.41502	-0.9505	10	0.30078	T	0.28	.	13.1731	0.59611	0.0:0.7401:0.0:0.2599	.	629;629	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	I	629	ENSP00000254508:V629I	ENSP00000254508:V629I	V	-	1	0	NUP210	13382493	0.794000	0.28838	0.901000	0.35422	0.262000	0.26303	-0.021000	0.12504	-0.308000	0.08792	0.655000	0.94253	GTC		0.647	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
GALNT15	117248	hgsc.bcm.edu	37	3	16237352	16237352	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:16237352C>T	ENST00000339732.5	+	2	1128	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	GALNT15_ENST00000437509.1_Missense_Mutation_p.R209W	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	209	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CACTCTCCTGCGGACTGTACA	0.607																																																	0			3											103.0	77.0	86.0					3																	16237352		2203	4300	6503	16212356	SO:0001583	missense	117248			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.625C>T	3.37:g.16237352C>T	ENSP00000344260:p.Arg209Trp		16212356	A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	c	19.06	3.753121	0.69648	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.63913	-0.07;-0.07	4.88	3.72	0.42706	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.86024	0.5834	H	0.98682	4.3	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.88998	0.3419	10	0.87932	D	0	.	11.9178	0.52776	0.8539:0.1461:0.0:0.0	.	209	Q8N3T1	GLTL2_HUMAN	W	209	ENSP00000344260:R209W;ENSP00000395873:R209W	ENSP00000344260:R209W	R	+	1	2	GALNTL2	16212356	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	1.566000	0.36396	0.715000	0.32103	-0.387000	0.06579	CGG		0.607	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110	
TRIM71	131405	hgsc.bcm.edu	37	3	32932173	32932173	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:32932173G>T	ENST00000383763.5	+	4	1540	c.1477G>T	c.(1477-1479)Ggc>Tgc	p.G493C		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	493					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACAGGCGATGGCCTCAAGCG	0.597																																																	0			3											47.0	50.0	49.0					3																	32932173		2047	4195	6242	32907177	SO:0001583	missense	131405				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1477G>T	3.37:g.32932173G>T	ENSP00000373272:p.Gly493Cys		32907177		Missense_Mutation	SNP	ENST00000383763.5	37	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034007	0.75504	.	.	ENSG00000206557	ENST00000383763	D	0.92446	-3.04	5.71	5.71	0.89125	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.047605	0.85682	D	0.000000	D	0.96617	0.8896	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96409	0.9303	10	0.52906	T	0.07	-37.4963	18.4247	0.90605	0.0:0.0:1.0:0.0	.	493	Q2Q1W2	LIN41_HUMAN	C	493	ENSP00000373272:G493C	ENSP00000373272:G493C	G	+	1	0	TRIM71	32907177	1.000000	0.71417	0.966000	0.40874	0.968000	0.65278	9.869000	0.99810	2.700000	0.92200	0.650000	0.86243	GGC		0.597	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111	
UBP1	7342	hgsc.bcm.edu	37	3	33427020	33427020	+	IGR	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:33427020G>A	ENST00000283629.3	-	0	4148				FBXL2_ENST00000484457.1_Missense_Mutation_p.A398T|FBXL2_ENST00000542085.1_Missense_Mutation_p.A108T|FBXL2_ENST00000446237.3_Missense_Mutation_p.A139T|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.A330T|FBXL2_ENST00000538181.1_Missense_Mutation_p.A314T|FBXL2_ENST00000507198.1_Missense_Mutation_p.A330T	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)						angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CAAAGTCCACGCCTACTTTGC	0.488																																																	0			3											161.0	157.0	158.0					3																	33427020		2203	4300	6503	33402024	SO:0001628	intergenic_variant	25827			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749		3.37:g.33427020G>A			33402024	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	37	6.121416	0.97300	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000446237;ENST00000507198;ENST00000542085	T;T;T;T;T;T	0.34472	2.66;3.42;2.63;1.36;3.42;2.42	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.77406	2.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.995	T	0.64271	-0.6447	10	0.52906	T	0.07	.	19.6921	0.96007	0.0:0.0:1.0:0.0	.	314;293;398	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	T	398;330;314;139;330;108	ENSP00000417601:A398T;ENSP00000441228:A330T;ENSP00000440794:A314T;ENSP00000389251:A139T;ENSP00000426163:A330T;ENSP00000445039:A108T	ENSP00000389251:A139T	A	+	1	0	FBXL2	33402024	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	9.753000	0.98904	2.830000	0.97506	0.655000	0.94253	GCC		0.488	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517	
SCN5A	6331	hgsc.bcm.edu	37	3	38645239	38645239	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:38645239G>A	ENST00000333535.4	-	12	2003	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	SCN5A_ENST00000414099.2_Silent_p.L618L|SCN5A_ENST00000449557.2_Silent_p.L618L|SCN5A_ENST00000451551.2_Silent_p.L618L|SCN5A_ENST00000425664.1_Silent_p.L618L|SCN5A_ENST00000443581.1_Silent_p.L618L|SCN5A_ENST00000450102.2_Silent_p.L618L|SCN5A_ENST00000455624.2_Silent_p.L618L|SCN5A_ENST00000413689.1_Silent_p.L618L|SCN5A_ENST00000423572.2_Silent_p.L618L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	618			L -> F (in drug-induced LQT syndrome; also found in patients with atrial fibrillation; dbSNP:rs45488304). {ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:18378609}.	L -> I (in Ref. 4; AAO91669). {ECO:0000305}.	AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGGGCGGAGGAGGTGGCTTC	0.622																																																	0			3											34.0	37.0	36.0					3																	38645239		2057	4207	6264	38620243	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1854C>T	3.37:g.38645239G>A			38620243	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
GORASP1	64689	hgsc.bcm.edu	37	3	39142260	39142260	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:39142260C>T	ENST00000319283.3	-	5	1365	c.544G>A	c.(544-546)Gca>Aca	p.A182T	GORASP1_ENST00000422110.2_Intron|GORASP1_ENST00000479927.1_Missense_Mutation_p.A87T|GORASP1_ENST00000476334.1_5'Flank	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	182					Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)		p.A182T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCCAGGCTGCGTTGGGAGTT	0.587											OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)	3											103.0	104.0	104.0					3																	39142260		2203	4300	6503	39117264	SO:0001583	missense	64689			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.544G>A	3.37:g.39142260C>T	ENSP00000313869:p.Ala182Thr	883	39117264	B3KWC8|Q3SYG7|Q8N272|Q96H42	Missense_Mutation	SNP	ENST00000319283.3	37	CCDS2681.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619547	0.87460	.	.	ENSG00000114745	ENST00000319283;ENST00000479927	T;T	0.44083	0.94;0.93	5.26	4.38	0.52667	PDZ/DHR/GLGF (1);	0.270103	0.41938	D	0.000785	T	0.23014	0.0556	N	0.04880	-0.145	0.40202	D	0.97752	B;B	0.31680	0.3;0.335	B;B	0.34824	0.19;0.112	T	0.11567	-1.0582	10	0.44086	T	0.13	-8.4738	9.6389	0.39826	0.0:0.8444:0.0:0.1556	.	87;182	B4E1H8;Q9BQQ3	.;GORS1_HUMAN	T	182;87	ENSP00000313869:A182T;ENSP00000419123:A87T	ENSP00000313869:A182T	A	-	1	0	GORASP1	39117264	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.321000	0.51999	2.460000	0.83146	0.655000	0.94253	GCA		0.587	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1		
LZTFL1	54585	hgsc.bcm.edu	37	3	45879492	45879492	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:45879492G>A	ENST00000296135.6	-	2	229	c.55C>T	c.(55-57)Cgt>Tgt	p.R19C	LZTFL1_ENST00000536047.1_Missense_Mutation_p.R2C|LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Intron	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	19					establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CGAGCAAAACGCATATAATTA	0.393																																																	0			3											76.0	77.0	77.0					3																	45879492		2203	4300	6503	45854496	SO:0001583	missense	54585			AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.55C>T	3.37:g.45879492G>A	ENSP00000296135:p.Arg19Cys		45854496	B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	ENST00000296135.6	37	CCDS2731.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208307	0.79240	.	.	ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000445698	T;T	0.32753	1.44;1.44	5.63	3.85	0.44370	.	0.103141	0.64402	D	0.000002	T	0.52092	0.1713	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	P	0.62382	0.901	T	0.56691	-0.7937	10	0.87932	D	0	-0.3867	12.4918	0.55905	0.1189:0.0:0.8811:0.0	.	19	Q9NQ48	LZTL1_HUMAN	C	19;2;2	ENSP00000296135:R19C;ENSP00000439522:R2C	ENSP00000296135:R19C	R	-	1	0	LZTFL1	45854496	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.303000	0.78871	0.746000	0.32786	0.655000	0.94253	CGT		0.393	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347	
BSN	8927	hgsc.bcm.edu	37	3	49689007	49689007	+	Missense_Mutation	SNP	C	C	T	rs147953739	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:49689007C>T	ENST00000296452.4	+	5	2132	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	673					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.A673V(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTCAGGATGCGTCTCGGAGC	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		19044	0.0		0.002	False		,,,				2504	0.0																2	Substitution - Missense(2)	lung(1)|endometrium(1)	3						C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	86.0	79.0	81.0		2018	4.0	1.0	3	dbSNP_134	81	11,8589	8.4+/-32.0	0,11,4289	yes	missense	BSN	NM_003458.3	64	0,12,6491	TT,TC,CC		0.1279,0.0227,0.0923	benign	673/3927	49689007	12,12994	2203	4300	6503	49664011	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2018C>T	3.37:g.49689007C>T	ENSP00000296452:p.Ala673Val		49664011	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	c	4.937	0.174109	0.09391	2.27E-4	0.001279	ENSG00000164061	ENST00000296452	T	0.17054	2.3	5.16	4.0	0.46444	.	0.725738	0.12749	N	0.442348	T	0.09423	0.0232	N	0.08118	0	0.22819	N	0.998698	B	0.02656	0.0	B	0.01281	0.0	T	0.32929	-0.9888	10	0.29301	T	0.29	.	10.7481	0.46191	0.0:0.0755:0.0:0.9245	.	673	Q9UPA5	BSN_HUMAN	V	673	ENSP00000296452:A673V	ENSP00000296452:A673V	A	+	2	0	BSN	49664011	1.000000	0.71417	0.996000	0.52242	0.177000	0.22998	4.655000	0.61476	0.809000	0.34255	-0.349000	0.07799	GCG		0.582	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
BSN	8927	hgsc.bcm.edu	37	3	49692058	49692058	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:49692058C>T	ENST00000296452.4	+	5	5183	c.5069C>T	c.(5068-5070)gCt>gTt	p.A1690V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1690					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCTCTCTTGCTGTGGAAGCG	0.602																																																	0			3											98.0	92.0	94.0					3																	49692058		2203	4300	6503	49667062	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5069C>T	3.37:g.49692058C>T	ENSP00000296452:p.Ala1690Val		49667062	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926552	0.52759	.	.	ENSG00000164061	ENST00000296452	T	0.28069	1.63	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	M	0.72894	2.215	0.58432	D	0.999998	D	0.89917	1.0	D	0.71184	0.972	T	0.59941	-0.7359	10	0.66056	D	0.02	.	18.6541	0.91441	0.0:1.0:0.0:0.0	.	1690	Q9UPA5	BSN_HUMAN	V	1690	ENSP00000296452:A1690V	ENSP00000296452:A1690V	A	+	2	0	BSN	49667062	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	5.999000	0.70665	2.420000	0.82092	0.561000	0.74099	GCT		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
APEH	327	hgsc.bcm.edu	37	3	49720019	49720019	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:49720019C>T	ENST00000296456.5	+	19	2133	c.1733C>T	c.(1732-1734)gCa>gTa	p.A578V	APEH_ENST00000438011.1_Missense_Mutation_p.A578V|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	578					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACTTTGATGCAAGCCATGTG	0.582																																																	0			3											204.0	189.0	194.0					3																	49720019		2203	4300	6503	49695023	SO:0001583	missense	327			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1733C>T	3.37:g.49720019C>T	ENSP00000296456:p.Ala578Val		49695023	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126707	0.37533	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.32272	1.46;1.46	5.48	3.59	0.41128	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	1.123640	0.06327	N	0.705574	T	0.29126	0.0724	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.18263	0.021;0.013	T	0.10941	-1.0608	10	0.49607	T	0.09	-1.5691	13.3776	0.60747	0.123:0.7579:0.1192:0.0	.	578;578	C9JIF9;P13798	.;ACPH_HUMAN	V	578	ENSP00000296456:A578V;ENSP00000415862:A578V	ENSP00000296456:A578V	A	+	2	0	APEH	49695023	0.000000	0.05858	0.037000	0.18230	0.995000	0.86356	0.662000	0.25038	2.566000	0.86566	0.655000	0.94253	GCA		0.582	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		
CDHR4	389118	hgsc.bcm.edu	37	3	49831425	49831425	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:49831425G>A	ENST00000412678.2	-	11	1302	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	432	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						ACCATCACCAGTACCGGCACC	0.627																																																	0			3											54.0	54.0	54.0					3																	49831425		692	1591	2283	49806429	SO:0001819	synonymous_variant	0				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.1294C>T	3.37:g.49831425G>A			49806429	Q6UXT0	Silent	SNP	ENST00000412678.2	37	CCDS46829.1																																																																																				0.627	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540	
HYAL2	8692	hgsc.bcm.edu	37	3	50357347	50357347	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:50357347G>A	ENST00000447092.1	-	1	2866	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	HYAL2_ENST00000395139.3_Missense_Mutation_p.R192C|TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000442581.1_Missense_Mutation_p.R192C|HYAL2_ENST00000357750.4_Missense_Mutation_p.R192C			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	192					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTGACATAACGCAGTGTCTCC	0.542																																																	0			3											84.0	84.0	84.0					3																	50357347		2203	4300	6503	50332351	SO:0001583	missense	8692			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.574C>T	3.37:g.50357347G>A	ENSP00000401853:p.Arg192Cys		50332351	B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047394	0.36085	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.81	4.93	0.64822	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.206543	0.49305	D	0.000148	T	0.56171	0.1967	M	0.86953	2.85	0.58432	D	0.99999	D;D	0.89917	1.0;0.998	D;D	0.72075	0.976;0.954	T	0.65298	-0.6202	10	0.72032	D	0.01	-23.4133	14.9793	0.71301	0.0:0.0:0.856:0.144	.	192;192	B3KRZ2;Q12891	.;HYAL2_HUMAN	C	192	ENSP00000401853:R192C;ENSP00000350387:R192C;ENSP00000378571:R192C;ENSP00000406657:R192C	ENSP00000350387:R192C	R	-	1	0	HYAL2	50332351	0.998000	0.40836	0.041000	0.18516	0.001000	0.01503	3.985000	0.56930	1.445000	0.47624	-0.321000	0.08615	CGT		0.542	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773	
HYAL2	8692	hgsc.bcm.edu	37	3	50357873	50357873	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:50357873C>A	ENST00000447092.1	-	1	2340	c.48G>T	c.(46-48)gcG>gcT	p.A16A	HYAL2_ENST00000395139.3_Silent_p.A16A|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000442581.1_Silent_p.A16A|HYAL2_ENST00000357750.4_Silent_p.A16A			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	16					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCATGACACCGCCAGCACCA	0.662																																																	0			3											27.0	24.0	25.0					3																	50357873		2198	4300	6498	50332877	SO:0001819	synonymous_variant	8692			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.48G>T	3.37:g.50357873C>A			50332877	B3KRZ2|O15177|Q9BW29	Silent	SNP	ENST00000447092.1	37	CCDS2818.1																																																																																				0.662	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773	
DOCK3	1795	hgsc.bcm.edu	37	3	51418780	51418780	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:51418780C>T	ENST00000266037.9	+	53	5906	c.5883C>T	c.(5881-5883)tgC>tgT	p.C1961C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1961					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCCAGGGTGCGTCATCCCTC	0.682																																																	0			3											55.0	64.0	61.0					3																	51418780		2142	4250	6392	51393820	SO:0001819	synonymous_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5883C>T	3.37:g.51418780C>T			51393820	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.682	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
GRM2	2912	hgsc.bcm.edu	37	3	51743379	51743379	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:51743379C>T	ENST00000395052.3	+	2	614	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GRM2_ENST00000442933.2_Missense_Mutation_p.A127V|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	127					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCTCTTATGCGACCCATGGT	0.587																																																	0			3											59.0	46.0	50.0					3																	51743379		2203	4297	6500	51718419	SO:0001583	missense	2912			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.380C>T	3.37:g.51743379C>T	ENSP00000378492:p.Ala127Val		51718419	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981130	0.93044	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.84589	-1.87;-1.87	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.062472	0.64402	D	0.000006	D	0.85500	0.5711	L	0.37630	1.12	0.80722	D	1	P	0.48230	0.907	P	0.49887	0.625	D	0.86902	0.2055	10	0.66056	D	0.02	.	19.2362	0.93861	0.0:1.0:0.0:0.0	.	127	Q14416	GRM2_HUMAN	V	127	ENSP00000378492:A127V;ENSP00000408906:A127V	ENSP00000296479:A127V	A	+	2	0	GRM2	51718419	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	6.026000	0.70873	2.555000	0.86185	0.655000	0.94253	GCG		0.587	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1		
BAP1	8314	hgsc.bcm.edu	37	3	52436345	52436345	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:52436345G>A	ENST00000460680.1	-	17	2620	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	BAP1_ENST00000296288.5_Missense_Mutation_p.R699W	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CGTTTCCGCCGGTCAGGCTTC	0.662			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			3											23.0	26.0	25.0					3																	52436345		2202	4294	6496	52411385	SO:0001583	missense	9223			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2149C>T	3.37:g.52436345G>A	ENSP00000417132:p.Arg717Trp		52411385	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898773	0.72639	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368	T;T;T	0.47177	0.85;0.85;0.85	5.52	-2.12	0.07165	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.222920	0.46442	D	0.000286	T	0.33818	0.0876	L	0.36672	1.1	0.80722	D	1	B	0.18310	0.027	B	0.09377	0.004	T	0.17684	-1.0361	10	0.87932	D	0	.	12.1302	0.53938	0.0583:0.0:0.4445:0.4971	.	717	Q92560	BAP1_HUMAN	W	717;699;241	ENSP00000417132:R717W;ENSP00000296288:R699W;ENSP00000420647:R241W	ENSP00000296288:R699W	R	-	1	2	BAP1	52411385	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	3.332000	0.52083	-0.232000	0.09811	0.561000	0.74099	CGG		0.662	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		
NISCH	11188	hgsc.bcm.edu	37	3	52518632	52518632	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:52518632G>A	ENST00000479054.1	+	15	1704	c.1632G>A	c.(1630-1632)ttG>ttA	p.L544L	NISCH_ENST00000345716.4_Silent_p.L544L			Q9Y2I1	NISCH_HUMAN	nischarin	544	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CTGATTCCTTGGAGTCCATCC	0.582																																																	0			3											101.0	92.0	95.0					3																	52518632		2203	4300	6503	52493672	SO:0001819	synonymous_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1632G>A	3.37:g.52518632G>A			52493672	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	CCDS33767.1																																																																																				0.582	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184	
ITIH3	3699	hgsc.bcm.edu	37	3	52840932	52840932	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:52840932G>A	ENST00000449956.2	+	19	2078	c.2072G>A	c.(2071-2073)gGg>gAg	p.G691E	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	691					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACAGTTAATGGGCAGATCACT	0.547																																																	0			3											24.0	25.0	25.0					3																	52840932		2050	4186	6236	52815972	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2072G>A	3.37:g.52840932G>A	ENSP00000415769:p.Gly691Glu		52815972	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605799	0.66445	.	.	ENSG00000162267	ENST00000273291;ENST00000449956	T	0.57752	0.38	5.41	5.41	0.78517	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	M	0.88842	2.985	0.44547	D	0.997508	D	0.89917	1.0	D	0.97110	1.0	T	0.80823	-0.1210	10	0.59425	D	0.04	-29.9651	16.113	0.81275	0.0:0.0:1.0:0.0	.	691	Q06033	ITIH3_HUMAN	E	686;691	ENSP00000415769:G691E	ENSP00000273291:G686E	G	+	2	0	ITIH3	52815972	1.000000	0.71417	0.996000	0.52242	0.374000	0.29953	6.321000	0.72881	2.547000	0.85894	0.555000	0.69702	GGG		0.547	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
FAM208A	23272	hgsc.bcm.edu	37	3	56680557	56680557	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:56680557C>T	ENST00000493960.2	-	14	2218	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L	FAM208A_ENST00000355628.5_Silent_p.L736L|FAM208A_ENST00000431842.2_Silent_p.L340L	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	736							poly(A) RNA binding (GO:0044822)	p.L340L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TACCTTCATACAGATGGCAAT	0.368																																																	1	Substitution - coding silent(1)	kidney(1)	3											92.0	95.0	94.0					3																	56680557		2202	4300	6502	56655597	SO:0001819	synonymous_variant	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2208G>A	3.37:g.56680557C>T			56655597	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	CCDS46853.1																																																																																				0.368	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
IL17RD	54756	hgsc.bcm.edu	37	3	57132118	57132118	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:57132118G>A	ENST00000296318.7	-	12	1701	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L	IL17RD_ENST00000463523.1_Missense_Mutation_p.S394L|IL17RD_ENST00000427856.2_Missense_Mutation_p.S514L|IL17RD_ENST00000320057.5_Missense_Mutation_p.S394L	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	538					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GGACCGGCCTGACTTGCTCCG	0.592																																																	0			3											88.0	78.0	82.0					3																	57132118		2203	4300	6503	57107158	SO:0001583	missense	54756			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1613C>T	3.37:g.57132118G>A	ENSP00000296318:p.Ser538Leu		57107158	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092571	0.76756	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.15139	2.45;2.45;2.46;2.45	5.64	5.64	0.86602	.	0.447919	0.26213	N	0.025675	T	0.22205	0.0535	L	0.50333	1.59	0.41412	D	0.987743	P;P;B	0.43352	0.577;0.804;0.342	B;B;B	0.39660	0.202;0.17;0.306	T	0.01697	-1.1293	10	0.87932	D	0	-29.6195	19.7154	0.96115	0.0:0.0:1.0:0.0	.	394;538;514	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	L	538;394;514;394	ENSP00000296318:S538L;ENSP00000322250:S394L;ENSP00000399209:S514L;ENSP00000417516:S394L	ENSP00000296318:S538L	S	-	2	0	IL17RD	57107158	1.000000	0.71417	0.088000	0.20740	0.962000	0.63368	9.195000	0.94971	2.664000	0.90586	0.655000	0.94253	TCA		0.592	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563	
ASB14	142686	hgsc.bcm.edu	37	3	57312659	57312659	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:57312659C>A	ENST00000389601.3	-	9	1297	c.1177G>T	c.(1177-1179)Gcc>Tcc	p.A393S	ASB14_ENST00000487349.1_Missense_Mutation_p.A393S	NM_130387.5	NP_569058.1	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box containing 14	393					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ATCCTGAGGGCTATCTGGAGG	0.478																																																	0			3											103.0	98.0	100.0					3																	57312659		2203	4300	6503	57287699	SO:0001583	missense	142686			AF403032	CCDS46856.1, CCDS46856.2	3p21.1	2013-01-10	2011-01-25			ENSG00000239388		"""Ankyrin repeat domain containing"""	19766	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 14"""			12076535	Standard	NM_130387		Approved	DKFZp313L0121	uc021wzs.1	A6NK59		ENST00000389601.3:c.1177G>T	3.37:g.57312659C>A	ENSP00000374252:p.Ala393Ser		57287699	C9JX97|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000389601.3	37		.	.	.	.	.	.	.	.	.	.	C	27.8	4.862015	0.91433	.	.	ENSG00000239388	ENST00000487349;ENST00000389601;ENST00000438870	D;D	0.90324	-2.65;-1.51	6.07	6.07	0.98685	.	.	.	.	.	D	0.95677	0.8594	M	0.82716	2.605	0.58432	D	0.999998	D;D	0.76494	0.999;0.982	D;D	0.65573	0.936;0.936	D	0.94963	0.8110	9	0.56958	D	0.05	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	393;108	C9JX97;A6NK59-2	.;.	S	393;393;229	ENSP00000419199:A393S;ENSP00000374252:A393S	ENSP00000374252:A393S	A	-	1	0	ASB14	57287699	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.431000	0.80335	2.885000	0.99019	0.655000	0.94253	GCC		0.478	ASB14-201	KNOWN	basic	protein_coding	protein_coding			
LRIG1	26018	hgsc.bcm.edu	37	3	66430822	66430822	+	Silent	SNP	G	G	A	rs138156364	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:66430822G>A	ENST00000273261.3	-	19	3671	c.3147C>T	c.(3145-3147)cgC>cgT	p.R1049R	LRIG1_ENST00000383703.3_Silent_p.R1026R|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	1049					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGGCTTCCGCGCGCTCTGGAC	0.562													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18813	0.0		0.0	False		,,,				2504	0.0																0			3						G		3,4403	6.2+/-15.9	0,3,2200	111.0	112.0	112.0		3147	1.9	0.0	3	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRIG1	NM_015541.2		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		1049/1094	66430822	4,13002	2203	4300	6503	66513512	SO:0001819	synonymous_variant	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.3147C>T	3.37:g.66430822G>A			66513512	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	CCDS33783.1																																																																																				0.562	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
EPHA3	2042	hgsc.bcm.edu	37	3	89445016	89445016	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:89445016G>A	ENST00000336596.2	+	6	1561	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	EPHA3_ENST00000494014.1_Missense_Mutation_p.D446N|EPHA3_ENST00000452448.2_Missense_Mutation_p.D446N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	446	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.D446Y(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATTAAGAAAGATCGGACCTC	0.453										TSP Lung(6;0.00050)																																							1	Substitution - Missense(1)	lung(1)	3											165.0	158.0	160.0					3																	89445016		2203	4300	6503	89527706	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1336G>A	3.37:g.89445016G>A	ENSP00000337451:p.Asp446Asn		89527706	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052428	0.75960	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.57273	0.41;0.41;0.41	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.149213	0.64402	D	0.000013	T	0.45498	0.1345	L	0.31578	0.945	0.80722	D	1	P;B	0.35493	0.505;0.062	B;B	0.35770	0.21;0.085	T	0.23762	-1.0179	9	.	.	.	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	446;446	P29320;P29320-2	EPHA3_HUMAN;.	N	446	ENSP00000337451:D446N;ENSP00000399926:D446N;ENSP00000419190:D446N	.	D	+	1	0	EPHA3	89527706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAT		0.453	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
IFT57	55081	hgsc.bcm.edu	37	3	107884331	107884331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:107884331G>A	ENST00000264538.3	-	9	1238	c.991C>T	c.(991-993)Cga>Tga	p.R331*	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	331					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TGCTGGTATCGCTCCTTTGCC	0.478																																																	0			3											195.0	133.0	154.0					3																	107884331		2203	4300	6503	109367021	SO:0001587	stop_gained	55081			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.991C>T	3.37:g.107884331G>A	ENSP00000264538:p.Arg331*		109367021	Q96DA9	Nonsense_Mutation	SNP	ENST00000264538.3	37	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361190	0.82353	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.92	4.97	0.65823	.	0.179469	0.46758	D	0.000277	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	13.5745	0.61866	0.0:0.0:0.7597:0.2403	.	.	.	.	X	331	.	ENSP00000264538:R331X	R	-	1	2	IFT57	109367021	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	3.198000	0.51035	2.818000	0.97014	0.655000	0.94253	CGA		0.478	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010	
ATG3	64422	hgsc.bcm.edu	37	3	112260669	112260669	+	Silent	SNP	T	T	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:112260669T>G	ENST00000283290.5	-	7	890	c.456A>C	c.(454-456)ggA>ggC	p.G152G	ATG3_ENST00000402314.2_Silent_p.G152G|ATG3_ENST00000495756.1_5'UTR	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	152					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTGCAGCTTCTCCTTCATCTT	0.303																																																	0			3											158.0	147.0	151.0					3																	112260669		2203	4299	6502	113743359	SO:0001819	synonymous_variant	64422				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.456A>C	3.37:g.112260669T>G			113743359	Q6PKC5|Q9H6L9	Silent	SNP	ENST00000283290.5	37	CCDS2966.1																																																																																				0.303	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488	
DTX3L	151636	hgsc.bcm.edu	37	3	122287438	122287438	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:122287438C>T	ENST00000296161.4	+	3	691	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	168					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AATGGAAGGTCACGATGGAAT	0.418																																																	0			3											105.0	92.0	97.0					3																	122287438		2203	4300	6503	123770128	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.502C>T	3.37:g.122287438C>T	ENSP00000296161:p.His168Tyr		123770128	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634207	0.14322	.	.	ENSG00000163840	ENST00000296161	T	0.30981	1.51	5.5	-0.298	0.12814	.	1.640760	0.03209	N	0.175982	T	0.15349	0.0370	N	0.24115	0.695	0.09310	N	1	P	0.44877	0.845	B	0.31016	0.123	T	0.15780	-1.0425	10	0.56958	D	0.05	-34.0349	1.3847	0.02237	0.3409:0.358:0.1254:0.1757	.	168	Q8TDB6	DTX3L_HUMAN	Y	168	ENSP00000296161:H168Y	ENSP00000296161:H168Y	H	+	1	0	DTX3L	123770128	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-1.520000	0.02241	-0.265000	0.09352	0.655000	0.94253	CAC		0.418	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287	
PARP14	54625	hgsc.bcm.edu	37	3	122446781	122446781	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:122446781C>T	ENST00000474629.2	+	16	5330	c.5064C>T	c.(5062-5064)tcC>tcT	p.S1688S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1688	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATGCCGGCTCCGTGCCACACG	0.483																																																	0			3											67.0	67.0	67.0					3																	122446781		1993	4172	6165	123929471	SO:0001819	synonymous_variant	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5064C>T	3.37:g.122446781C>T			123929471	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	CCDS46894.1																																																																																				0.483	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
KALRN	8997	hgsc.bcm.edu	37	3	124390543	124390543	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:124390543G>T	ENST00000291478.5	+	15	1809	c.1646G>T	c.(1645-1647)aGg>aTg	p.R549M	KALRN_ENST00000393496.1_Missense_Mutation_p.R587M|KALRN_ENST00000428018.2_Missense_Mutation_p.R517M|KALRN_ENST00000360013.3_Missense_Mutation_p.R2246M|KALRN_ENST00000459915.1_Missense_Mutation_p.R338M	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2245					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGGAAAGAAAGGAGCACAGCT	0.562																																																	0			3											97.0	106.0	103.0					3																	124390543		2203	4300	6503	125873233	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1646G>T	3.37:g.124390543G>T	ENSP00000291478:p.Arg549Met		125873233	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.80|14.80	2.642575|2.642575	0.47153|0.47153	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	.|T;T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93;0.93	4.35|4.35	4.35|4.35	0.52113|0.52113	.|Pleckstrin homology-type (1);	.|0.724812	.|0.12578	.|N	.|0.456657	.|T	.|0.26159	.|0.0638	N|N	0.08118|0.08118	0|0	0.33900|0.33900	D|D	0.638353|0.638353	.|B;P;P;B	.|0.38711	.|0.099;0.511;0.643;0.327	.|B;B;B;B	.|0.37346	.|0.019;0.087;0.247;0.053	.|T	.|0.41592	.|-0.9500	.|10	.|0.56958	.|D	.|0.05	.|.	12.4232|12.4232	0.55532|0.55532	0.0847:0.0:0.9153:0.0|0.0847:0.0:0.9153:0.0	.|.	.|338;549;587;2245	.|E7EUZ8;C9JQ37;O60229-5;O60229	.|.;.;.;KALRN_HUMAN	X|M	2215|2246;587;549;517;338	.|ENSP00000353109:R2246M;ENSP00000377134:R587M;ENSP00000291478:R549M;ENSP00000402419:R517M;ENSP00000420318:R338M	.|ENSP00000291478:R549M	G|R	+|+	1|2	0|0	KALRN|KALRN	125873233|125873233	0.161000|0.161000	0.22892|0.22892	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	1.507000|1.507000	0.35758|0.35758	1.968000|1.968000	0.57251|0.57251	0.557000|0.557000	0.71058|0.71058	GGA|AGG		0.562	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
CCDC37	348807	hgsc.bcm.edu	37	3	126137577	126137577	+	Missense_Mutation	SNP	G	G	A	rs371120376		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:126137577G>A	ENST00000352312.1	+	7	709	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	CCDC37_ENST00000393425.1_Missense_Mutation_p.V205I|CCDC37_ENST00000505024.1_Missense_Mutation_p.V205I	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	204										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)		CGACGAGTTCGTCAGGGAGAA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		13951	0.0		0.0	False		,,,				2504	0.001																0			3											41.0	45.0	44.0					3																	126137577		2197	4299	6496	127620267	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.610G>A	3.37:g.126137577G>A	ENSP00000344749:p.Val204Ile		127620267	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610683	0.28712	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.14766	2.48;2.48;2.48	5.09	3.28	0.37604	.	0.066263	0.64402	D	0.000008	T	0.06280	0.0162	N	0.08118	0	0.20489	N	0.999897	B;B	0.12013	0.004;0.005	B;B	0.06405	0.001;0.002	T	0.26224	-1.0109	10	0.48119	T	0.1	-18.6468	6.0203	0.19625	0.0:0.6707:0.1605:0.1688	.	205;204	Q494V2-2;Q494V2	.;CCD37_HUMAN	I	204;205;205	ENSP00000344749:V204I;ENSP00000377076:V205I;ENSP00000423046:V205I	ENSP00000344749:V204I	V	+	1	0	CCDC37	127620267	1.000000	0.71417	0.990000	0.47175	0.078000	0.17371	2.369000	0.44231	1.161000	0.42604	-0.339000	0.08088	GTC		0.662	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
EPHB1	2047	hgsc.bcm.edu	37	3	134670256	134670256	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:134670256G>A	ENST00000398015.3	+	3	537	c.167G>A	c.(166-168)cGc>cAc	p.R56H	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	56	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)	p.R56L(2)|p.R56P(1)		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						AACACCATCCGCACCTACCAG	0.517																																																	3	Substitution - Missense(3)	lung(3)	3											38.0	43.0	41.0					3																	134670256		2155	4278	6433	136152946	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.167G>A	3.37:g.134670256G>A	ENSP00000381097:p.Arg56His		136152946	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469822	0.84533	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000497173;ENST00000473867;ENST00000474732	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	5.64	5.64	0.86602	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.57130	1.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00563	-1.1669	10	0.29301	T	0.29	.	19.7209	0.96143	0.0:0.0:1.0:0.0	.	56;56	B5A969;P54762	.;EPHB1_HUMAN	H	34;56;34;34;34	ENSP00000417435:R34H;ENSP00000381097:R56H;ENSP00000419688:R34H;ENSP00000417216:R34H;ENSP00000418352:R34H	ENSP00000381097:R56H	R	+	2	0	EPHB1	136152946	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.651000	0.90000	0.650000	0.86243	CGC		0.517	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
COPB2	9276	hgsc.bcm.edu	37	3	139077104	139077104	+	Missense_Mutation	SNP	C	C	A	rs560518160		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:139077104C>A	ENST00000333188.5	-	21	2744	c.2563G>T	c.(2563-2565)Ggg>Tgg	p.G855W	COPB2_ENST00000507777.1_Missense_Mutation_p.G826W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	855					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.G855R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCAGGTTTCCCATCAAGTTCC	0.433																																																	1	Substitution - Missense(1)	ovary(1)	3											110.0	96.0	100.0					3																	139077104		2203	4300	6503	140559794	SO:0001583	missense	9276			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2563G>T	3.37:g.139077104C>A	ENSP00000329419:p.Gly855Trp		140559794	B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.338314|2.338314	0.41398|0.41398	.|.	.|.	ENSG00000184432|ENSG00000184432	ENST00000333188;ENST00000507777|ENST00000503326	T;T|.	0.62941|.	-0.01;0.1|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.717399|.	0.13055|.	N|.	0.417385|.	T|T	0.41259|0.41259	0.1151|0.1151	N|N	0.24115|0.24115	0.695|0.695	0.31506|0.31506	N|N	0.664213|0.664213	B|.	0.26147|.	0.143|.	B|.	0.23852|.	0.049|.	T|T	0.43015|0.43015	-0.9417|-0.9417	10|5	0.72032|.	D|.	0.01|.	-21.3713|-21.3713	13.8059|13.8059	0.63230|0.63230	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	855|.	P35606|.	COPB2_HUMAN|.	W|L	855;826|68	ENSP00000329419:G855W;ENSP00000422295:G826W|.	ENSP00000329419:G855W|.	G|W	-|-	1|2	0|0	COPB2|COPB2	140559794|140559794	0.797000|0.797000	0.28877|0.28877	0.936000|0.936000	0.37596|0.37596	0.765000|0.765000	0.43378|0.43378	3.232000|3.232000	0.51302|0.51302	2.634000|2.634000	0.89283|0.89283	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.433	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766	
TRIM42	287015	hgsc.bcm.edu	37	3	140401871	140401871	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:140401871C>T	ENST00000286349.3	+	2	1100	c.909C>T	c.(907-909)cgC>cgT	p.R303R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	303						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R303R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGTACTGCCGCAATGACAACA	0.567																																																	1	Substitution - coding silent(1)	lung(1)	3											244.0	209.0	221.0					3																	140401871		2203	4300	6503	141884561	SO:0001819	synonymous_variant	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.909C>T	3.37:g.140401871C>T			141884561	A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	CCDS3113.1																																																																																				0.567	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616	
GRK7	131890	hgsc.bcm.edu	37	3	141497143	141497143	+	Missense_Mutation	SNP	C	C	T	rs377464259		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:141497143C>T	ENST00000264952.2	+	1	154	c.17C>T	c.(16-18)gCc>gTc	p.A6V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	6					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GACATGGGGGCCCTGGACAAC	0.677																																																	0			3											46.0	55.0	52.0					3																	141497143		2197	4299	6496	142979833	SO:0001583	missense	131890				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.17C>T	3.37:g.141497143C>T	ENSP00000264952:p.Ala6Val		142979833		Missense_Mutation	SNP	ENST00000264952.2	37	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800522	0.50315	.	.	ENSG00000114124	ENST00000264952	T	0.61274	0.12	4.5	1.61	0.23674	.	0.133015	0.50627	D	0.000109	T	0.48259	0.1490	L	0.38175	1.15	0.23859	N	0.996649	B	0.14805	0.011	B	0.14578	0.011	T	0.44997	-0.9291	10	0.59425	D	0.04	-6.801	15.8711	0.79119	0.0:0.3053:0.6947:0.0	.	6	Q8WTQ7	GRK7_HUMAN	V	6	ENSP00000264952:A6V	ENSP00000264952:A6V	A	+	2	0	GRK7	142979833	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.498000	0.53302	0.009000	0.14813	-0.176000	0.13171	GCC		0.677	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209	
XRN1	54464	hgsc.bcm.edu	37	3	142140334	142140334	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:142140334A>G	ENST00000264951.4	-	9	1136	c.1019T>C	c.(1018-1020)cTt>cCt	p.L340P	XRN1_ENST00000392981.2_Missense_Mutation_p.L340P|XRN1_ENST00000463916.1_Missense_Mutation_p.L340P|RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000544157.1_Missense_Mutation_p.L130P	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	340					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L340H(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTTTCACAAGGTATTTCTC	0.328																																																	1	Substitution - Missense(1)	ovary(1)	3											60.0	59.0	59.0					3																	142140334		2202	4299	6501	143623024	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1019T>C	3.37:g.142140334A>G	ENSP00000264951:p.Leu340Pro		143623024	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051422	0.75960	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T	0.50277	0.75;0.76	5.27	5.27	0.74061	.	0.174438	0.51477	D	0.000089	T	0.75961	0.3921	M	0.93150	3.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.992;1.0;1.0;0.999	D;D;D;D;D	0.76071	0.986;0.952;0.95;0.987;0.971	T	0.82212	-0.0569	10	0.54805	T	0.06	-17.5749	15.1465	0.72657	1.0:0.0:0.0:0.0	.	130;340;201;340;340	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	P	340;340;340;130	ENSP00000264951:L340P;ENSP00000376707:L340P	ENSP00000264951:L340P	L	-	2	0	XRN1	143623024	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.730000	0.91510	2.118000	0.64928	0.377000	0.23210	CTT		0.328	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
CHST2	9435	hgsc.bcm.edu	37	3	142840585	142840585	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:142840585C>T	ENST00000309575.3	+	2	2311	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	309					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TGCGCGTCTTCGACGTGGCGG	0.652																																																	0			3											23.0	24.0	24.0					3																	142840585		2198	4300	6498	144323275	SO:0001819	synonymous_variant	9435			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.927C>T	3.37:g.142840585C>T			144323275	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	CCDS3129.1																																																																																				0.652	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267	
WWTR1	25937	hgsc.bcm.edu	37	3	149245632	149245632	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:149245632A>G	ENST00000465804.1	-	6	1152	c.896T>C	c.(895-897)tTc>tCc	p.F299S	WWTR1_ENST00000360632.3_Missense_Mutation_p.F299S|WWTR1_ENST00000467467.1_Missense_Mutation_p.F299S|RNU6-1098P_ENST00000516772.1_RNA	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	299					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CCCATTGAGGAAAGGATCTGA	0.428			T	CAMTA1	epitheliod hemangioendothelioma																																			Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0			3											189.0	200.0	196.0					3																	149245632		2203	4300	6503	150728322	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.896T>C	3.37:g.149245632A>G	ENSP00000419465:p.Phe299Ser		150728322	D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443368	0.83993	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.63255	-0.03;-0.03;-0.03	5.09	5.09	0.68999	.	0.493259	0.23241	N	0.050353	T	0.63988	0.2558	M	0.79123	2.44	0.54753	D	0.999985	B	0.32573	0.376	B	0.29267	0.1	T	0.69316	-0.5177	10	0.87932	D	0	-10.8866	15.2181	0.73285	1.0:0.0:0.0:0.0	.	299	Q9GZV5	WWTR1_HUMAN	S	299;299;299;157	ENSP00000419465:F299S;ENSP00000353847:F299S;ENSP00000419234:F299S	ENSP00000353847:F299S	F	-	2	0	WWTR1	150728322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.678000	0.91211	2.046000	0.60703	0.524000	0.50904	TTC		0.428	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472	
SIAH2	6478	hgsc.bcm.edu	37	3	150460160	150460160	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:150460160A>G	ENST00000312960.3	-	2	1270	c.743T>C	c.(742-744)aTc>aCc	p.I248T		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	248	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I248N(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGCAGGACGATGGCAAAAAA	0.552																																																	1	Substitution - Missense(1)	lung(1)	3											95.0	82.0	86.0					3																	150460160		2203	4300	6503	151942850	SO:0001583	missense	6478			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.743T>C	3.37:g.150460160A>G	ENSP00000322457:p.Ile248Thr		151942850	O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893385	0.72524	.	.	ENSG00000181788	ENST00000312960	T	0.25250	1.81	5.81	5.81	0.92471	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.058931	0.64402	D	0.000003	T	0.30978	0.0782	N	0.16656	0.425	0.50171	D	0.999852	B	0.24368	0.102	P	0.48840	0.592	T	0.39643	-0.9604	10	0.35671	T	0.21	.	12.0037	0.53246	0.9312:0.0:0.0688:0.0	.	248	O43255	SIAH2_HUMAN	T	248	ENSP00000322457:I248T	ENSP00000322457:I248T	I	-	2	0	SIAH2	151942850	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.520000	0.81821	2.217000	0.71921	0.482000	0.46254	ATC		0.552	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067	
SI	6476	hgsc.bcm.edu	37	3	164785145	164785145	+	Silent	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:164785145T>C	ENST00000264382.3	-	6	680	c.618A>G	c.(616-618)aaA>aaG	p.K206K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	206	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.K206N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TACCGTTGCTTTTCCTAATAA	0.308										HNSCC(35;0.089)																																							1	Substitution - Missense(1)	ovary(1)	3											86.0	85.0	85.0					3																	164785145		2203	4298	6501	166267839	SO:0001819	synonymous_variant	6490			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.618A>G	3.37:g.164785145T>C			166267839	A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	CCDS3196.1																																																																																				0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SLITRK3	22865	hgsc.bcm.edu	37	3	164906123	164906123	+	Silent	SNP	C	C	T	rs377111636		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:164906123C>T	ENST00000475390.1	-	2	2939	c.2496G>A	c.(2494-2496)acG>acA	p.T832T	SLITRK3_ENST00000241274.3_Silent_p.T832T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	832					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTGATTCACCGTCACTATGG	0.547										HNSCC(40;0.11)																																							0			3											106.0	104.0	105.0					3																	164906123		2203	4300	6503	166388817	SO:0001819	synonymous_variant	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2496G>A	3.37:g.164906123C>T			166388817	Q1RMY6	Silent	SNP	ENST00000475390.1	37	CCDS3197.1																																																																																				0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
PIK3CA	5290	hgsc.bcm.edu	37	3	178952114	178952114	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:178952114T>C	ENST00000263967.3	+	21	3326	c.3169T>C	c.(3169-3171)Tgg>Cgg	p.W1057R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1057	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.W1057R(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAAAATGGATTGGATCTTCCA	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"""	1	Substitution - Missense(1)	stomach(1)	3											97.0	87.0	90.0					3																	178952114		1920	4136	6056	180434808	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3169T>C	3.37:g.178952114T>C	ENSP00000263967:p.Trp1057Arg		180434808	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425160	0.62733	.	.	ENSG00000121879	ENST00000263967	D	0.81579	-1.51	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	D	0.89076	0.6612	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88861	0.3326	10	0.48119	T	0.1	-8.4726	16.6512	0.85203	0.0:0.0:0.0:1.0	.	1057	P42336	PK3CA_HUMAN	R	1057	ENSP00000263967:W1057R	ENSP00000263967:W1057R	W	+	1	0	PIK3CA	180434808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.611000	0.82962	2.333000	0.79357	0.482000	0.46254	TGG		0.383	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MCF2L2	23101	hgsc.bcm.edu	37	3	182897469	182897469	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:182897469A>G	ENST00000328913.3	-	29	3414	c.3117T>C	c.(3115-3117)ctT>ctC	p.L1039L	MCF2L2_ENST00000473233.1_Silent_p.L1039L|MCF2L2_ENST00000468976.1_5'Flank	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1039			L -> F (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCGACTGGAAAAGGCCCGCGA	0.602																																																	0			3											73.0	81.0	78.0					3																	182897469		2203	4300	6503	184380163	SO:0001819	synonymous_variant	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3117T>C	3.37:g.182897469A>G			184380163	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	CCDS3243.1																																																																																				0.602	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
EIF4G1	1981	hgsc.bcm.edu	37	3	184042723	184042723	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:184042723C>T	ENST00000346169.2	+	18	2948	c.2677C>T	c.(2677-2679)Cgg>Tgg	p.R893W	EIF4G1_ENST00000434061.2_Missense_Mutation_p.R698W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R894W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R729W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R900W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R853W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R697W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R893W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R900W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R854W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R807W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R806W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R730W|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R900W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	893	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATAGCCCGGCGGCGCTCTTT	0.478																																																	0			3											64.0	75.0	71.0					3																	184042723		2203	4300	6503	185525417	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2677C>T	3.37:g.184042723C>T	ENSP00000316879:p.Arg893Trp		185525417	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088587	0.76756	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.65	3.76	0.43208	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.053492	0.64402	D	0.000001	T	0.64560	0.2609	H	0.96861	3.895	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.78871	-0.2033	10	0.87932	D	0	-16.2484	14.7825	0.69776	0.2626:0.7374:0.0:0.0	.	900;894;893;900	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	W	893;853;806;900;834;729;900;807;894;893;900;854;729;730;698;697	ENSP00000316879:R893W;ENSP00000391935:R853W;ENSP00000376320:R806W;ENSP00000371767:R900W;ENSP00000403269:R834W;ENSP00000317600:R729W;ENSP00000338020:R900W;ENSP00000407682:R807W;ENSP00000343450:R894W;ENSP00000323737:R893W;ENSP00000416255:R900W;ENSP00000395974:R854W;ENSP00000398145:R729W;ENSP00000399858:R730W;ENSP00000411826:R698W;ENSP00000404754:R697W	ENSP00000323737:R893W	R	+	1	2	EIF4G1	185525417	0.493000	0.26035	1.000000	0.80357	0.999000	0.98932	1.032000	0.30178	1.359000	0.45940	0.561000	0.74099	CGG		0.478	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
EIF4G1	1981	hgsc.bcm.edu	37	3	184044407	184044407	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:184044407C>A	ENST00000346169.2	+	22	3586	c.3315C>A	c.(3313-3315)ccC>ccA	p.P1105P	EIF4G1_ENST00000434061.2_Silent_p.P910P|EIF4G1_ENST00000342981.4_Silent_p.P1106P|EIF4G1_ENST00000350481.5_Silent_p.P941P|EIF4G1_ENST00000352767.3_Silent_p.P1112P|EIF4G1_ENST00000414031.1_Silent_p.P1065P|EIF4G1_ENST00000435046.2_Silent_p.P909P|EIF4G1_ENST00000319274.6_Silent_p.P1105P|EIF4G1_ENST00000424196.1_Silent_p.P1112P|EIF4G1_ENST00000411531.1_Silent_p.P1066P|EIF4G1_ENST00000427845.1_Silent_p.P1019P|EIF4G1_ENST00000392537.2_Silent_p.P1018P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Silent_p.P942P|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000382330.3_Silent_p.P1112P	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1105					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGCCAAGCCCTCAGACGCAG	0.587																																																	0			3											70.0	66.0	67.0					3																	184044407		2203	4300	6503	185527101	SO:0001819	synonymous_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3315C>A	3.37:g.184044407C>A			185527101	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	8.894	0.954599	0.18431	.	.	ENSG00000114867	ENST00000448284	T	0.46063	0.88	5.05	1.3	0.21679	.	0.058143	0.64402	D	0.000001	T	0.45256	0.1333	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38824	-0.9643	7	0.87932	D	0	-7.4415	4.5363	0.12032	0.2241:0.4298:0.0:0.3461	.	.	.	.	H	159	ENSP00000392908:P159H	ENSP00000392908:P159H	P	+	2	0	EIF4G1	185527101	0.161000	0.22892	1.000000	0.80357	0.983000	0.72400	-0.489000	0.06490	0.408000	0.25621	-0.150000	0.13652	CCT		0.587	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
MASP1	5648	hgsc.bcm.edu	37	3	187003668	187003668	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:187003668T>C	ENST00000337774.5	-	2	571	c.182A>G	c.(181-183)tAc>tGc	p.Y61C	MASP1_ENST00000392470.2_Missense_Mutation_p.Y35C|MASP1_ENST00000296280.6_Missense_Mutation_p.Y61C|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.Y61C|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	61	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTGCATGAAGTAAAGCTTGAT	0.488																																																	0			3											136.0	127.0	130.0					3																	187003668		2203	4300	6503	188486362	SO:0001583	missense	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.182A>G	3.37:g.187003668T>C	ENSP00000336792:p.Tyr61Cys		188486362	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959653	0.74016	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000169293;ENST00000392470;ENST00000392475;ENST00000439271;ENST00000425937	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.15	5.15	0.70609	CUB (5);	0.000000	0.85682	D	0.000000	T	0.50000	0.1590	M	0.91612	3.225	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.995;1.0;0.997	T	0.59830	-0.7380	10	0.51188	T	0.08	.	14.453	0.67397	0.0:0.0:0.0:1.0	.	35;61;61;61	F8W876;P48740-3;P48740-2;P48740	.;.;.;MASP1_HUMAN	C	61;61;61;35;68;87;35	ENSP00000336792:Y61C;ENSP00000296280:Y61C;ENSP00000169293:Y61C;ENSP00000376262:Y35C;ENSP00000376267:Y68C;ENSP00000412021:Y87C;ENSP00000409047:Y35C	ENSP00000169293:Y61C	Y	-	2	0	MASP1	188486362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.679000	0.68160	2.073000	0.62155	0.383000	0.25322	TAC		0.488	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	
OPA1	4976	hgsc.bcm.edu	37	3	193361790	193361790	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:193361790A>G	ENST00000392438.3	+	14	1573	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	OPA1_ENST00000361510.2_Missense_Mutation_p.I502V|OPA1_ENST00000361715.2_Missense_Mutation_p.I466V|OPA1_ENST00000361908.3_Missense_Mutation_p.I484V|OPA1_ENST00000361150.2_Missense_Mutation_p.I448V|OPA1_ENST00000361828.2_Missense_Mutation_p.I465V	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	447	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGAACGCAGTATTGTTACAGA	0.368																																																	0			3											85.0	79.0	81.0					3																	193361790		2203	4300	6503	194844484	SO:0001583	missense	9968			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1339A>G	3.37:g.193361790A>G	ENSP00000376233:p.Ile447Val		194844484	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103520	0.56291	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68	5.8	5.8	0.92144	Dynamin, GTPase domain (2);	0.044653	0.85682	D	0.000000	D	0.91727	0.7384	L	0.31578	0.945	0.80722	D	1	B;P;B;B;P;B;B;B	0.35684	0.24;0.454;0.24;0.24;0.515;0.24;0.267;0.372	B;B;B;B;B;B;B;B	0.39771	0.232;0.266;0.309;0.309;0.266;0.309;0.127;0.309	D	0.91988	0.5600	10	0.62326	D	0.03	-20.0082	15.3361	0.74255	1.0:0.0:0.0:0.0	.	411;447;429;448;465;484;466;502	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	V	484;447;502;466;465;448	ENSP00000354681:I484V;ENSP00000376233:I447V;ENSP00000355324:I502V;ENSP00000355311:I466V;ENSP00000354429:I465V;ENSP00000354781:I448V	ENSP00000354781:I448V	I	+	1	0	OPA1	194844484	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.307000	0.96226	2.209000	0.71365	0.533000	0.62120	ATT		0.368	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	
MUC4	4585	hgsc.bcm.edu	37	3	195516254	195516254	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:195516254A>G	ENST00000463781.3	-	2	2656	c.2197T>C	c.(2197-2199)Tcc>Ccc	p.S733P	MUC4_ENST00000475231.1_Missense_Mutation_p.S733P|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	738					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTTTTGGAAAGTGACGTG	0.617																																																	0			3											114.0	127.0	122.0					3																	195516254		2134	4246	6380	197000649	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2197T>C	3.37:g.195516254A>G	ENSP00000417498:p.Ser733Pro		197000649	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	5.541	0.284685	0.10513	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.48522	0.81;0.83	2.85	-1.02	0.10135	.	2.205680	0.02055	N	0.050287	T	0.29817	0.0745	N	0.19112	0.55	0.09310	N	1	B;B	0.22080	0.064;0.048	B;B	0.20184	0.028;0.026	T	0.07009	-1.0795	10	0.28530	T	0.3	-1.0395	2.2015	0.03924	0.5022:0.0:0.271:0.2267	.	733;738	E7ESK3;Q99102	.;MUC4_HUMAN	P	733;733;707	ENSP00000417498:S733P;ENSP00000420243:S733P	ENSP00000376209:S707P	S	-	1	0	MUC4	197000649	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.009000	0.13219	-0.197000	0.10350	0.510000	0.49958	TCC		0.617	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
BDH1	622	hgsc.bcm.edu	37	3	197239178	197239178	+	Missense_Mutation	SNP	G	G	A	rs200605471		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:197239178G>A	ENST00000392378.2	-	7	930	c.620C>T	c.(619-621)cCg>cTg	p.P207L	BDH1_ENST00000441275.1_Missense_Mutation_p.P120L|BDH1_ENST00000392379.1_Missense_Mutation_p.P207L|BDH1_ENST00000358186.2_Missense_Mutation_p.P207L	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	207					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GATGCAGTACGGGGAGCGGGC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		20559	0.001		0.0	False		,,,				2504	0.0																0			3											38.0	40.0	39.0					3																	197239178		2203	4300	6503	198723575	SO:0001583	missense	622			M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.620C>T	3.37:g.197239178G>A	ENSP00000376183:p.Pro207Leu		198723575	D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	CCDS3328.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	19.60|19.60	3.857702|3.857702	0.71834|0.71834	.|.	.|.	ENSG00000161267|ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746|ENST00000455876	D;D;D;D;D|.	0.87103|.	-2.21;-2.21;-2.21;-2.21;-2.21|.	5.21|5.21	5.21|5.21	0.72293|0.72293	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);|.	0.049760|.	0.85682|.	D|.	0.000000|.	T|T	0.61009|0.61009	0.2313|0.2313	L|L	0.41906|0.41906	1.305|1.305	0.80722|0.80722	D|D	1|1	D|.	0.62365|.	0.991|.	P|.	0.55667|.	0.781|.	T|T	0.56335|0.56335	-0.7996|-0.7996	10|5	0.46703|.	T|.	0.11|.	.|.	16.6264|16.6264	0.84971|0.84971	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	207|.	Q02338|.	BDH_HUMAN|.	L|C	207;207;207;120;120|101	ENSP00000376183:P207L;ENSP00000350914:P207L;ENSP00000376184:P207L;ENSP00000411014:P120L;ENSP00000387648:P120L|.	ENSP00000350914:P207L|.	P|R	-|-	2|1	0|0	BDH1|BDH1	198723575|198723575	1.000000|1.000000	0.71417|0.71417	0.844000|0.844000	0.33320|0.33320	0.018000|0.018000	0.09664|0.09664	7.771000|7.771000	0.85420|0.85420	2.587000|2.587000	0.87381|0.87381	0.591000|0.591000	0.81541|0.81541	CCG|CGT		0.627	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051	
CACNA1C	775	hgsc.bcm.edu	37	12	2676928	2676928	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:2676928C>T	ENST00000347598.4	+	13	1863	c.1863C>T	c.(1861-1863)tgC>tgT	p.C621C	CACNA1C_ENST00000399629.1_Silent_p.C621C|CACNA1C_ENST00000399641.1_Silent_p.C621C|CACNA1C_ENST00000327702.7_Silent_p.C621C|CACNA1C_ENST00000402845.3_Silent_p.C621C|CACNA1C_ENST00000399595.1_Silent_p.C621C|CACNA1C_ENST00000480911.1_Silent_p.C621C|CACNA1C_ENST00000399597.1_Silent_p.C621C|CACNA1C_ENST00000406454.3_Silent_p.C621C|CACNA1C_ENST00000399606.1_Silent_p.C621C|CACNA1C_ENST00000399638.1_Silent_p.C621C|CACNA1C_ENST00000399601.1_Silent_p.C621C|CACNA1C_ENST00000399637.1_Silent_p.C621C|CACNA1C_ENST00000399617.1_Silent_p.C621C|CACNA1C_ENST00000399591.1_Silent_p.C621C|CACNA1C_ENST00000399603.1_Silent_p.C621C|CACNA1C_ENST00000399649.1_Silent_p.C621C|CACNA1C_ENST00000344100.3_Silent_p.C621C|CACNA1C_ENST00000399655.1_Silent_p.C621C|CACNA1C_ENST00000335762.5_Silent_p.C646C|CACNA1C_ENST00000399644.1_Silent_p.C621C|CACNA1C_ENST00000399621.1_Silent_p.C621C|CACNA1C_ENST00000399634.1_Silent_p.C621C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	621					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCTCAGATGCGTCCGGCTGC	0.572																																																	0			12											34.0	36.0	36.0					12																	2676928		2170	4291	6461	2547189	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1863C>T	12.37:g.2676928C>T			2547189	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
CRACR2A	84766	hgsc.bcm.edu	37	12	3726166	3726166	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:3726166C>T	ENST00000440314.2	-	19	2538	c.2065G>A	c.(2065-2067)Gcc>Acc	p.A689T		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		0					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCAGAGTAGGCGCTGCATTCA	0.512																																																	0			12											210.0	180.0	189.0					12																	3726166		692	1591	2283	3596427	SO:0001583	missense	84766																														ENST00000440314.2:c.2065G>A	12.37:g.3726166C>T	ENSP00000409382:p.Ala689Thr		3596427	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000440314.2	37	CCDS44803.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100186	0.76983	.	.	ENSG00000130038	ENST00000440314	D	0.88741	-2.42	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94427	0.7646	9	0.87932	D	0	.	12.8416	0.57806	0.0:1.0:0.0:0.0	.	689	Q9BSW2-2	.	T	689	ENSP00000409382:A689T	ENSP00000409382:A689T	A	-	1	0	EFCAB4B	3596427	1.000000	0.71417	0.988000	0.46212	0.786000	0.44442	5.401000	0.66326	2.372000	0.80975	0.563000	0.77884	GCC		0.512	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398640.2		
KCNA6	3742	hgsc.bcm.edu	37	12	4919445	4919445	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:4919445C>A	ENST00000280684.3	+	1	1104	c.238C>A	c.(238-240)Ctg>Atg	p.L80M	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.L80M			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	80					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTTCGACCCCCTGAGGAACGA	0.642										HNSCC(72;0.22)																																							0			12											51.0	53.0	53.0					12																	4919445		2203	4300	6503	4789706	SO:0001583	missense	3742			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.238C>A	12.37:g.4919445C>A	ENSP00000280684:p.Leu80Met		4789706		Missense_Mutation	SNP	ENST00000280684.3	37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919583	0.52653	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76709	-1.04;-1.04	4.57	1.62	0.23740	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.243253	0.34906	N	0.003597	T	0.78735	0.4330	L	0.37507	1.11	0.46317	D	0.998982	D	0.56035	0.974	D	0.70935	0.971	T	0.74266	-0.3721	10	0.38643	T	0.18	.	8.6353	0.33943	0.0:0.7363:0.0:0.2637	.	80	P17658	KCNA6_HUMAN	M	80	ENSP00000408321:L80M;ENSP00000280684:L80M	ENSP00000280684:L80M	L	+	1	2	KCNA6	4789706	0.976000	0.34144	0.365000	0.25901	0.984000	0.73092	2.487000	0.45268	0.519000	0.28406	0.462000	0.41574	CTG		0.642	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235	
CD163L1	283316	hgsc.bcm.edu	37	12	7551178	7551178	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:7551178T>C	ENST00000313599.3	-	7	1468	c.1411A>G	c.(1411-1413)Aag>Gag	p.K471E	CD163L1_ENST00000416109.2_Missense_Mutation_p.K481E|CD163L1_ENST00000396630.1_Missense_Mutation_p.K471E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	471						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGATCTGCCTTATCTGCAAGC	0.453																																																	0			12											54.0	48.0	50.0					12																	7551178		2203	4300	6503	7442445	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1411A>G	12.37:g.7551178T>C	ENSP00000315945:p.Lys471Glu		7442445	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.925104	0.00493	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.27890	1.64;1.64;1.64	2.11	1.16	0.20824	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.08537	0.0212	N	0.01250	-0.93	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.08055	0.003;0.003	T	0.37384	-0.9708	9	0.07813	T	0.8	.	6.337	0.21302	0.0:0.8184:0.0:0.1816	.	481;471	E7EVK4;Q9NR16	.;C163B_HUMAN	E	471;481;471	ENSP00000315945:K471E;ENSP00000393474:K481E;ENSP00000379871:K471E	ENSP00000315945:K471E	K	-	1	0	CD163L1	7442445	0.001000	0.12720	0.092000	0.20876	0.048000	0.14542	0.645000	0.24782	0.390000	0.25115	-0.467000	0.05162	AAG		0.453	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
GDF3	9573	hgsc.bcm.edu	37	12	7842962	7842962	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:7842962C>T	ENST00000329913.3	-	2	654	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	203					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.E203K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACCAGTATCTCCAGGAATAAC	0.502																																																	1	Substitution - Missense(1)	skin(1)	12											70.0	73.0	72.0					12																	7842962		2203	4300	6503	7734229	SO:0001583	missense	9573			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.607G>A	12.37:g.7842962C>T	ENSP00000331745:p.Glu203Lys		7734229	Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272836	0.80580	.	.	ENSG00000184344	ENST00000329913	T	0.69685	-0.42	4.61	3.68	0.42216	Transforming growth factor-beta, N-terminal (1);	7.370980	0.00166	N	0.000000	D	0.84170	0.5413	M	0.80183	2.485	0.58432	D	0.999995	D	0.71674	0.998	D	0.70716	0.97	T	0.65302	-0.6201	10	0.49607	T	0.09	.	12.4582	0.55716	0.0:0.8295:0.1705:0.0	.	203	Q9NR23	GDF3_HUMAN	K	203	ENSP00000331745:E203K	ENSP00000331745:E203K	E	-	1	0	GDF3	7734229	0.999000	0.42202	0.994000	0.49952	0.884000	0.51177	4.475000	0.60210	1.022000	0.39626	0.561000	0.74099	GAG		0.502	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1		
RIMKLB	57494	hgsc.bcm.edu	37	12	8902559	8902559	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:8902559C>T	ENST00000538135.1	+	3	1102	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	RIMKLB_ENST00000535829.1_Missense_Mutation_p.R93C|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Missense_Mutation_p.R93C			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	93					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CACTGTTTTGCGCCATCTAGA	0.488																																																	0			12											72.0	68.0	69.0					12																	8902559		1906	4117	6023	8793826	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.277C>T	12.37:g.8902559C>T	ENSP00000440943:p.Arg93Cys		8793826	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888947	0.52014	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.47	5.47	0.80525	.	0.071421	0.53938	U	0.000048	T	0.52092	0.1713	L	0.55481	1.735	0.80722	D	1	B;B	0.33448	0.398;0.412	B;B	0.30179	0.112;0.052	T	0.57700	-0.7766	9	0.87932	D	0	.	12.9384	0.58329	0.1622:0.8378:0.0:0.0	.	93;93	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	C	93;93;154;93;93;93	.	ENSP00000350136:R93C	R	+	1	0	RIMKLB	8793826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.469000	0.53093	2.571000	0.86741	0.591000	0.81541	CGC		0.488	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734	
TAS2R50	259296	hgsc.bcm.edu	37	12	11139424	11139424	+	Silent	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:11139424T>A	ENST00000506868.1	-	1	87	c.36A>T	c.(34-36)ctA>ctT	p.L12L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	12					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AAACCATTATTAGAATTGAAA	0.323																																																	0			12											32.0	39.0	37.0					12																	11139424		2182	4286	6468	11030691	SO:0001819	synonymous_variant	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.36A>T	12.37:g.11139424T>A			11030691	P59545|Q2M255|Q645Y0	Silent	SNP	ENST00000506868.1	37	CCDS8638.1																																																																																				0.323	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890	
PTPRO	5800	hgsc.bcm.edu	37	12	15702113	15702113	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:15702113G>A	ENST00000281171.4	+	14	2720	c.2390G>A	c.(2389-2391)aGc>aAc	p.S797N	PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.S797N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	797	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACCAGCTTTAGCCATGACAGC	0.423																																																	0			12											188.0	170.0	176.0					12																	15702113		2203	4300	6503	15593380	SO:0001583	missense	10076			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2390G>A	12.37:g.15702113G>A	ENSP00000281171:p.Ser797Asn		15593380	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538556	0.85917	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	T;T	0.72167	0.99;-0.63	4.93	4.93	0.64822	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.77219	0.4098	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.72982	0.91;0.979	T	0.79612	-0.1731	10	0.62326	D	0.03	.	18.3504	0.90336	0.0:0.0:1.0:0.0	.	797;797	Q16827-2;Q16827	.;PTPRO_HUMAN	N	797	ENSP00000281171:S797N;ENSP00000343434:S797N	ENSP00000281171:S797N	S	+	2	0	PTPRO	15593380	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	8.578000	0.90777	2.567000	0.86603	0.655000	0.94253	AGC		0.423	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
SLCO1A2	6579	hgsc.bcm.edu	37	12	21446892	21446892	+	Missense_Mutation	SNP	G	G	A	rs141238012	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:21446892G>A	ENST00000307378.6	-	12	2144	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.T343M|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.T475M|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.T343M|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.T473M	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	475	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	GTTTATTCCCGTTCCAATGGA	0.383													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16085	0.0		0.0	False		,,,				2504	0.0																0			12						G	MET/THR,MET/THR	0,4406		0,0,2203	118.0	102.0	108.0		1424,1424	4.0	0.6	12	dbSNP_134	108	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	SLCO1A2	NM_021094.3,NM_134431.3	81,81	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	benign,benign	475/671,475/671	21446892	8,12998	2203	4300	6503	21338159	SO:0001583	missense	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1424C>T	12.37:g.21446892G>A	ENSP00000305974:p.Thr475Met		21338159	Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	3.317	-0.139659	0.06669	0.0	9.3E-4	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	4.93	4.03	0.46877	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.815714	0.11565	N	0.551302	T	0.09113	0.0225	M	0.63428	1.95	0.28692	N	0.904528	B;P	0.35077	0.095;0.483	B;B	0.32583	0.067;0.148	T	0.05666	-1.0871	10	0.51188	T	0.08	.	16.6501	0.85187	0.0705:0.0:0.9295:0.0	.	473;475	P46721-2;P46721	.;SO1A2_HUMAN	M	475;475;343;343;473	ENSP00000305974:T475M;ENSP00000393973:T475M;ENSP00000394854:T343M;ENSP00000439401:T343M;ENSP00000375088:T473M	ENSP00000305974:T475M	T	-	2	0	SLCO1A2	21338159	1.000000	0.71417	0.562000	0.28370	0.065000	0.16274	3.161000	0.50747	0.607000	0.29982	-1.128000	0.01989	ACG		0.383	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094	
KRAS	3845	hgsc.bcm.edu	37	12	25380281	25380281	+	Silent	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:25380281T>C	ENST00000256078.4	-	3	240	c.177A>G	c.(175-177)gcA>gcG	p.A59A	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Silent_p.A59A|KRAS_ENST00000557334.1_Intron	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)		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)			CCTCTTGACCTGCTGTGTCGA	0.418		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"""	0			12											108.0	96.0	100.0					12																	25380281		2203	4300	6503	25271548	SO:0001819	synonymous_variant	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.177A>G	12.37:g.25380281T>C			25271548	A8K8Z5|B0LPF9|P01118|Q96D10	Silent	SNP	ENST00000256078.4	37	CCDS8703.1																																																																																				0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	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)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	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.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
LRRK2	120892	hgsc.bcm.edu	37	12	40704299	40704299	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:40704299C>T	ENST00000298910.7	+	31	4442	c.4384C>T	c.(4384-4386)Cgc>Tgc	p.R1462C		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1462	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGAGAAGCAACGCAAAGCCTG	0.483																																																	0			12											153.0	145.0	147.0					12																	40704299		2203	4300	6503	38990566	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4384C>T	12.37:g.40704299C>T	ENSP00000298910:p.Arg1462Cys		38990566	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907198	0.72868	.	.	ENSG00000188906	ENST00000298910	T	0.80653	-1.4	5.63	4.73	0.59995	ROC GTPase (1);Small GTP-binding protein domain (1);	0.182649	0.49916	D	0.000136	T	0.75810	0.3900	L	0.49778	1.585	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	B;B	0.41440	0.282;0.357	T	0.79381	-0.1827	10	0.52906	T	0.07	.	14.9416	0.70997	0.0:0.9302:0.0:0.0698	.	1462;1462	Q17RV3;Q5S007	.;LRRK2_HUMAN	C	1462	ENSP00000298910:R1462C	ENSP00000298910:R1462C	R	+	1	0	LRRK2	38990566	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.391000	0.52530	2.653000	0.90120	0.650000	0.86243	CGC		0.483	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
PDZRN4	29951	hgsc.bcm.edu	37	12	41966505	41966505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:41966505G>T	ENST00000402685.2	+	10	1932	c.1924G>T	c.(1924-1926)Gag>Tag	p.E642*	PDZRN4_ENST00000298919.7_Nonsense_Mutation_p.E382*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E384*	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	642							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAATCATGGAGAGTATGACCT	0.443																																																	0			12											108.0	101.0	104.0					12																	41966505		2203	4300	6503	40252772	SO:0001587	stop_gained	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1924G>T	12.37:g.41966505G>T	ENSP00000384197:p.Glu642*		40252772	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Nonsense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	38	7.072673	0.98044	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	.	.	.	4.49	3.58	0.41010	.	0.258966	0.32106	N	0.006568	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-15.5719	14.7263	0.69346	0.0:0.1594:0.8406:0.0	.	.	.	.	X	642;384;382	.	ENSP00000298919:E382X	E	+	1	0	PDZRN4	40252772	1.000000	0.71417	0.959000	0.39883	0.983000	0.72400	4.695000	0.61767	1.181000	0.42912	0.650000	0.86243	GAG		0.443	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
PPHLN1	51535	hgsc.bcm.edu	37	12	42729723	42729723	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:42729723T>C	ENST00000395568.2	+	2	103	c.19T>C	c.(19-21)Tat>Cat	p.Y7H	PPHLN1_ENST00000317560.9_Missense_Mutation_p.Y14H|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.Y25H|PPHLN1_ENST00000432191.2_Missense_Mutation_p.Y7H|PPHLN1_ENST00000395580.3_Missense_Mutation_p.Y14H|PPHLN1_ENST00000358314.7_Missense_Mutation_p.Y7H|PPHLN1_ENST00000449194.2_Missense_Mutation_p.Y7H|PPHLN1_ENST00000337898.6_Missense_Mutation_p.Y7H|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000552761.1_Missense_Mutation_p.Y14H	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	7					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TGAGGGACGATATGAATATGA	0.378																																																	0			12											135.0	138.0	137.0					12																	42729723		2203	4300	6503	41015990	SO:0001583	missense	51535			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.19T>C	12.37:g.42729723T>C	ENSP00000378935:p.Tyr7His		41015990	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.872882	0.51695	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191;ENST00000546750;ENST00000547847	.	.	.	5.34	4.19	0.49359	.	0.140536	0.49305	N	0.000152	T	0.62708	0.2450	M	0.68593	2.085	0.31744	N	0.635406	B;B;B;B;B;D;D;D;B;B;B;B	0.89917	0.082;0.06;0.012;0.049;0.099;0.999;0.999;1.0;0.145;0.418;0.073;0.418	B;B;B;B;B;D;D;D;B;B;B;B	0.91635	0.058;0.03;0.006;0.026;0.067;0.996;0.996;0.999;0.099;0.198;0.086;0.184	T	0.68644	-0.5354	9	0.87932	D	0	-5.0943	8.0245	0.30430	0.0:0.0903:0.0:0.9097	.	14;7;7;14;7;7;7;7;14;14;14;25	F8WF16;B7Z695;B7Z8L1;B7Z615;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.;.	H	25;14;7;7;7;7;14;14;7;14;7	.	ENSP00000322048:Y14H	Y	+	1	0	PPHLN1	41015990	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	2.629000	0.46485	1.152000	0.42452	0.528000	0.53228	TAT		0.378	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515	
ADAMTS20	80070	hgsc.bcm.edu	37	12	43821126	43821126	+	Silent	SNP	G	G	A	rs536908821		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:43821126G>A	ENST00000389420.3	-	27	4091	c.4092C>T	c.(4090-4092)taC>taT	p.Y1364Y	ADAMTS20_ENST00000395541.2_Silent_p.Y482Y|ADAMTS20_ENST00000553158.1_Silent_p.Y1364Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1364	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCAATTTCCGTAGTTCCACT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		17862	0.0		0.0	False		,,,				2504	0.001																0			12											94.0	80.0	85.0					12																	43821126		2203	4300	6503	42107393	SO:0001819	synonymous_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4092C>T	12.37:g.43821126G>A			42107393	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
KMT2D	8085	hgsc.bcm.edu	37	12	49422879	49422879	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:49422879G>T	ENST00000301067.7	-	44	14215	c.14216C>A	c.(14215-14217)cCt>cAt	p.P4739H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4739					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGGATGACAGGGGAGAGGGC	0.647																																																	0			12											44.0	50.0	48.0					12																	49422879		1943	4108	6051	47709146	SO:0001583	missense	9757			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14216C>A	12.37:g.49422879G>T	ENSP00000301067:p.Pro4739His		47709146	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865489	0.51588	.	.	ENSG00000167548	ENST00000301067	D	0.95447	-3.71	4.91	4.91	0.64330	.	0.000000	0.36444	N	0.002594	D	0.97570	0.9204	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98342	1.0539	10	0.87932	D	0	.	17.2511	0.87042	0.0:0.0:1.0:0.0	.	4739	O14686	MLL2_HUMAN	H	4739	ENSP00000301067:P4739H	ENSP00000301067:P4739H	P	-	2	0	MLL2	47709146	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	9.725000	0.98778	2.454000	0.82982	0.557000	0.71058	CCT		0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KMT2D	8085	hgsc.bcm.edu	37	12	49437986	49437986	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:49437986C>T	ENST00000301067.7	-	21	5184	c.5185G>A	c.(5185-5187)Gag>Aag	p.E1729K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1729					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCTCACCCTCGTCGGGCTGC	0.622											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			12											38.0	44.0	42.0					12																	49437986		2077	4198	6275	47724253	SO:0001583	missense	9757			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5185G>A	12.37:g.49437986C>T	ENSP00000301067:p.Glu1729Lys	962	47724253	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421458	0.62622	.	.	ENSG00000167548	ENST00000301067	T	0.81163	-1.46	4.82	4.82	0.62117	.	0.000000	0.35772	N	0.002988	D	0.82829	0.5122	L	0.39898	1.24	0.45822	D	0.998692	D	0.71674	0.998	P	0.55871	0.786	D	0.85212	0.1021	10	0.87932	D	0	.	16.8327	0.85949	0.0:1.0:0.0:0.0	.	1729	O14686	MLL2_HUMAN	K	1729	ENSP00000301067:E1729K	ENSP00000301067:E1729K	E	-	1	0	MLL2	47724253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.705000	0.61838	2.498000	0.84270	0.563000	0.77884	GAG		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KMT2D	8085	hgsc.bcm.edu	37	12	49445485	49445485	+	Missense_Mutation	SNP	G	G	A	rs371225040		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:49445485G>A	ENST00000301067.7	-	10	1980	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	661	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGAGACAGGCGTGACACCACA	0.642																																																	0			12						G	CYS/ARG	0,4242		0,0,2121	43.0	49.0	47.0		1981	2.1	0.1	12		47	1,8435		0,1,4217	no	missense	MLL2	NM_003482.3	180	0,1,6338	AA,AG,GG		0.0119,0.0,0.0079	possibly-damaging	661/5538	49445485	1,12677	2121	4218	6339	47731752	SO:0001583	missense	9757			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1981C>T	12.37:g.49445485G>A	ENSP00000301067:p.Arg661Cys		47731752	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205656	0.39003	0.0	1.19E-4	ENSG00000167548	ENST00000301067	T	0.79845	-1.31	3.98	2.13	0.27403	.	.	.	.	.	T	0.58878	0.2153	N	0.08118	0	0.09310	N	1	P	0.34892	0.474	B	0.25140	0.058	T	0.51988	-0.8635	9	0.87932	D	0	.	8.2447	0.31682	0.2027:0.0:0.7973:0.0	.	661	O14686	MLL2_HUMAN	C	661	ENSP00000301067:R661C	ENSP00000301067:R661C	R	-	1	0	MLL2	47731752	0.038000	0.19896	0.087000	0.20705	0.822000	0.46500	1.972000	0.40540	0.476000	0.27440	0.313000	0.20887	CGC		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KRT6C	286887	hgsc.bcm.edu	37	12	52865494	52865494	+	Missense_Mutation	SNP	G	G	A	rs187821450	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:52865494G>A	ENST00000252250.6	-	3	825	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	260	Coil 1B.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCTGCTGTGCGCTTGTTGATT	0.448													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20612	0.0		0.0	False		,,,				2504	0.001																0			12											98.0	94.0	96.0					12																	52865494		2203	4298	6501	51151761	SO:0001583	missense	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.778C>T	12.37:g.52865494G>A	ENSP00000252250:p.Arg260Cys		51151761	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	CCDS8829.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	19.45	3.829225	0.71258	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.90069	-2.61	2.96	2.96	0.34315	Filament (1);	0.000000	0.56097	D	0.000022	D	0.91047	0.7183	H	0.96142	3.775	0.58432	D	0.999998	D	0.56746	0.977	P	0.48982	0.597	D	0.92578	0.6072	10	0.87932	D	0	.	10.546	0.45060	0.0:0.0:0.8063:0.1937	.	260	P48668	K2C6C_HUMAN	C	260;245	ENSP00000252250:R260C	ENSP00000252250:R260C	R	-	1	0	KRT6C	51151761	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.523000	0.81856	1.943000	0.56356	0.462000	0.41574	CGC		0.448	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086	
KRT6A	3853	hgsc.bcm.edu	37	12	52881579	52881579	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:52881579G>A	ENST00000330722.6	-	9	1688	c.1620C>T	c.(1618-1620)agC>agT	p.S540S		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	540	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCAACAGAGCTGAGGCCAC	0.587																																																	0			12											76.0	84.0	82.0					12																	52881579		2203	4296	6499	51167846	SO:0001819	synonymous_variant	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1620C>T	12.37:g.52881579G>A			51167846	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	CCDS41786.1																																																																																				0.587	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554	
KRT73	319101	hgsc.bcm.edu	37	12	53012018	53012018	+	Silent	SNP	C	C	T	rs142655706	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:53012018C>T	ENST00000305748.3	-	1	325	c.291G>A	c.(289-291)tcG>tcA	p.S97S	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	97	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGCACAACGACGGACACA	0.637																																																	0			12						C		7,4399	12.9+/-30.5	0,7,2196	113.0	120.0	118.0		291	-9.3	0.0	12	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	KRT73	NM_175068.2		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		97/541	53012018	7,12999	2203	4300	6503	51298285	SO:0001819	synonymous_variant	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.291G>A	12.37:g.53012018C>T			51298285	Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																				0.637	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	
KRT8	3856	hgsc.bcm.edu	37	12	53292651	53292651	+	Silent	SNP	G	G	A	rs112222496	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:53292651G>A	ENST00000552551.1	-	7	1446	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	KRT8_ENST00000293308.6_Silent_p.A338A|KRT8_ENST00000546897.1_Silent_p.A338A|KRT8_ENST00000552150.1_Silent_p.A366A			P05787	K2C8_HUMAN	keratin 8	338	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CACGCTGCTCGGCATCTGCAA	0.642													G|||	11	0.00219649	0.0083	0.0	5008	,	,		16632	0.0		0.0	False		,,,				2504	0.0																0			12						G		27,4377		0,27,2175	32.0	32.0	32.0		1014	-7.7	0.1	12	dbSNP_132	32	0,8600		0,0,4300	no	coding-synonymous	KRT8	NM_002273.3		0,27,6475	AA,AG,GG		0.0,0.6131,0.2076		338/484	53292651	27,12977	2202	4300	6502	51578918	SO:0001819	synonymous_variant	3856			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1014C>T	12.37:g.53292651G>A			51578918	A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	CCDS8841.1																																																																																				0.642	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273	
SPRYD3	84926	hgsc.bcm.edu	37	12	53461435	53461435	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:53461435C>T	ENST00000301463.4	-	8	984	c.898G>A	c.(898-900)Gca>Aca	p.A300T	SPRYD3_ENST00000547837.1_Missense_Mutation_p.A337T	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	300										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TATTCACCTGCATGATAAGCC	0.537																																																	0			12											156.0	128.0	138.0					12																	53461435		2203	4300	6503	51747702	SO:0001583	missense	84926			AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.898G>A	12.37:g.53461435C>T	ENSP00000301463:p.Ala300Thr		51747702	B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136490	0.56936	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.15603	2.41;2.41	3.68	3.68	0.42216	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);SPla/RYanodine receptor SPRY (1);	0.203632	0.42821	D	0.000658	T	0.30417	0.0764	L	0.60067	1.865	0.51012	D	0.9999	D	0.60575	0.988	P	0.58266	0.836	T	0.02560	-1.1141	10	0.72032	D	0.01	.	11.1986	0.48728	0.0:1.0:0.0:0.0	.	300	Q8NCJ5	SPRY3_HUMAN	T	300;337	ENSP00000301463:A300T;ENSP00000449452:A337T	ENSP00000301463:A300T	A	-	1	0	SPRYD3	51747702	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	6.304000	0.72800	2.363000	0.80096	0.462000	0.41574	GCA		0.537	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840	
ESPL1	9700	hgsc.bcm.edu	37	12	53683916	53683916	+	Missense_Mutation	SNP	G	G	A	rs149892921	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:53683916G>A	ENST00000257934.4	+	23	5252	c.5161G>A	c.(5161-5163)Gtg>Atg	p.V1721M	ESPL1_ENST00000552462.1_Missense_Mutation_p.V1721M	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1721					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCCGGAACCGTGGGCAACAC	0.587																																					Colon(53;1069 1201 2587 5382)												0			12						G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	68.0	71.0		5161	-2.4	0.0	12	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	ESPL1	NM_012291.4	21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	1721/2121	53683916	2,13004	2203	4300	6503	51970183	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5161G>A	12.37:g.53683916G>A	ENSP00000257934:p.Val1721Met		51970183		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	2.436	-0.329649	0.05314	2.27E-4	1.16E-4	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12774	2.65;2.65	5.4	-2.42	0.06542	.	0.593368	0.18745	N	0.132344	T	0.04770	0.0129	N	0.19112	0.55	0.09310	N	1	P	0.34800	0.469	B	0.22601	0.04	T	0.28808	-1.0032	10	0.38643	T	0.18	.	1.8601	0.03187	0.4092:0.2141:0.2621:0.1147	.	1721	Q14674	ESPL1_HUMAN	M	1721;1396;1721	ENSP00000257934:V1721M;ENSP00000449831:V1721M	ENSP00000257934:V1721M	V	+	1	0	ESPL1	51970183	0.000000	0.05858	0.013000	0.15412	0.151000	0.21798	-0.266000	0.08631	-0.352000	0.08237	-0.793000	0.03317	GTG		0.587	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
SP7	121340	hgsc.bcm.edu	37	12	53722440	53722440	+	Silent	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:53722440G>T	ENST00000536324.2	-	3	1069	c.786C>A	c.(784-786)ggC>ggA	p.G262G	SP7_ENST00000303846.3_Silent_p.G262G|SP7_ENST00000537210.2_Silent_p.G244G	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	262					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CTGCCCCACTGCCCCCATATC	0.632																																																	0			12											27.0	32.0	31.0					12																	53722440		2024	4183	6207	52008707	SO:0001819	synonymous_variant	121340			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.786C>A	12.37:g.53722440G>T			52008707	B3KY26|Q3MJ72|Q7Z718	Silent	SNP	ENST00000536324.2	37	CCDS44897.1																																																																																				0.632	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1		
TESPA1	9840	hgsc.bcm.edu	37	12	55356689	55356689	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:55356689C>T	ENST00000449076.1	-	9	1125	c.993G>A	c.(991-993)caG>caA	p.Q331Q	TESPA1_ENST00000316577.8_Silent_p.Q331Q|TESPA1_ENST00000524622.1_Silent_p.Q193Q|TESPA1_ENST00000531122.1_Silent_p.Q193Q|TESPA1_ENST00000532804.1_Silent_p.Q193Q|TESPA1_ENST00000524959.1_5'Flank	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	331					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CAGAGTCTTGCTGGAGGAACT	0.517																																																	0			12											68.0	72.0	71.0					12																	55356689		1957	4151	6108	53642956	SO:0001819	synonymous_variant	9840			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.993G>A	12.37:g.55356689C>T			53642956	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	CCDS44913.1																																																																																				0.517	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815	
SARNP	84324	hgsc.bcm.edu	37	12	56194674	56194674	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:56194674C>A	ENST00000336133.3	-	3	201	c.147G>T	c.(145-147)gaG>gaT	p.E49D	SARNP_ENST00000552080.1_Missense_Mutation_p.E49D|SARNP_ENST00000444631.2_Intron|RP11-762I7.5_ENST00000552719.1_5'Flank|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.G362C	NM_033082.3	NP_149073.1	P82979	SARNP_HUMAN	SAP domain containing ribonucleoprotein	49					mRNA export from nucleus (GO:0006406)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						CTTCATTTGCCTCCTCTTCAG	0.388																																																	0			12											239.0	198.0	212.0					12																	56194674		2203	4300	6503	54480941	SO:0001583	missense	84324			AJ409089	CCDS8892.1	12q13.2	2009-07-09				ENSG00000205323			24432	protein-coding gene	gene with protein product	"""hepatocellular carcinoma 1"", ""cytokine induced protein 29 kDa"""	610049				11356193, 11922608	Standard	NM_033082		Approved	THO1, Hcc-1, CIP29		P82979	OTTHUMG00000170441	ENST00000336133.3:c.147G>T	12.37:g.56194674C>A	ENSP00000337632:p.Glu49Asp		54480941	A8K393|Q9P066	Missense_Mutation	SNP	ENST00000336133.3	37	CCDS8892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.77|11.77	1.737895|1.737895	0.30774|0.30774	.|.	.|.	ENSG00000205323|ENSG00000257390	ENST00000336133;ENST00000552080|ENST00000546837	.|.	.|.	.|.	5.32|5.32	2.41|2.41	0.29592|0.29592	DNA-binding SAP (1);|.	0.170876|.	0.52532|.	D|.	0.000076|.	T|T	0.39911|0.39911	0.1096|0.1096	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;B|.	0.30146|.	0.27;0.023|.	B;B|.	0.32533|.	0.147;0.011|.	T|T	0.07233|0.07233	-1.0783|-1.0783	9|5	0.31617|.	T|.	0.26|.	-14.1182|-14.1182	8.1025|8.1025	0.30865|0.30865	0.0:0.716:0.0:0.284|0.0:0.716:0.0:0.284	.|.	49;49|.	F8VZQ9;P82979|.	.;SARNP_HUMAN|.	D|C	49|362	.|.	ENSP00000337632:E49D|.	E|G	-|-	3|1	2|0	SARNP|RP11-762I7.5	54480941|54480941	0.824000|0.824000	0.29247|0.29247	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	-0.232000|-0.232000	0.09055|0.09055	0.294000|0.294000	0.22547|0.22547	-0.136000|-0.136000	0.14681|0.14681	GAG|GGC		0.388	SARNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409159.2	NM_033082	
SMARCC2	6601	hgsc.bcm.edu	37	12	56565715	56565715	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:56565715C>T	ENST00000267064.4	-	20	1926	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	SMARCC2_ENST00000394023.3_Missense_Mutation_p.E645K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E645K|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E645K	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	614	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E614K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGTACATTTCCAGTGCCTGG	0.507																																																	1	Substitution - Missense(1)	skin(1)	12											77.0	65.0	69.0					12																	56565715		2203	4300	6503	54851982	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1840G>A	12.37:g.56565715C>T	ENSP00000267064:p.Glu614Lys		54851982	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798517	0.90538	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	3.89	3.0	0.34707	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.122444	0.52532	D	0.000069	T	0.38134	0.1029	L	0.61387	1.9	0.58432	D	0.999994	B;B;B;B;B	0.33345	0.409;0.356;0.409;0.409;0.356	B;B;B;B;B	0.30572	0.117;0.071;0.117;0.117;0.115	T	0.40308	-0.9570	10	0.56958	D	0.05	-11.0784	11.0341	0.47791	0.0:0.9047:0.0:0.0953	.	534;645;649;614;645	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	K	645;645;645;614	ENSP00000377591:E645K;ENSP00000449396:E645K;ENSP00000302919:E645K;ENSP00000267064:E614K	ENSP00000267064:E614K	E	-	1	0	SMARCC2	54851982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	1.211000	0.43351	0.655000	0.94253	GAA		0.507	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
MYO1A	4640	hgsc.bcm.edu	37	12	57424050	57424050	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:57424050C>A	ENST00000442789.2	-	25	2822	c.2535G>T	c.(2533-2535)agG>agT	p.R845S	MYO1A_ENST00000300119.3_Missense_Mutation_p.R845S|MYO1A_ENST00000544473.1_Missense_Mutation_p.R683S|TAC3_ENST00000415231.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	845					microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R845R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGAGCTTTTCCCTCAGGATCT	0.572																																																	1	Substitution - coding silent(1)	skin(1)	12											109.0	92.0	98.0					12																	57424050		2203	4300	6503	55710317	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2535G>T	12.37:g.57424050C>A	ENSP00000393392:p.Arg845Ser		55710317	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	40	8.369062	0.98781	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.88046	-2.27;-2.27;-2.33	4.94	4.04	0.47022	.	0.429106	0.26390	N	0.024644	T	0.81133	0.4759	L	0.47190	1.495	0.34496	D	0.705543	B	0.17038	0.02	B	0.19148	0.024	T	0.80903	-0.1174	10	0.40728	T	0.16	.	8.2433	0.31673	0.0:0.8926:0.0:0.1074	.	845	Q9UBC5	MYO1A_HUMAN	S	845;845;683	ENSP00000300119:R845S;ENSP00000393392:R845S;ENSP00000440514:R683S	ENSP00000300119:R845S	R	-	3	2	MYO1A	55710317	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	1.866000	0.39489	2.291000	0.77112	0.544000	0.68410	AGG		0.572	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
MYO1A	4640	hgsc.bcm.edu	37	12	57431361	57431361	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:57431361T>C	ENST00000442789.2	-	20	2313	c.2026A>G	c.(2026-2028)Aca>Gca	p.T676A	MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.T676A|MYO1A_ENST00000544473.1_Missense_Mutation_p.T514A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	676	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AAGATCTTTGTCTTGCCAAAG	0.527																																																	0			12											272.0	283.0	279.0					12																	57431361		2203	4300	6503	55717628	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2026A>G	12.37:g.57431361T>C	ENSP00000393392:p.Thr676Ala		55717628	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135035	0.77662	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.90620	-2.7;-2.7;-2.7	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.059684	0.64402	D	0.000003	D	0.95576	0.8562	H	0.96269	3.795	0.53005	D	0.999967	D	0.63046	0.992	P	0.56042	0.79	D	0.96254	0.9185	10	0.87932	D	0	.	11.0233	0.47730	0.0:0.0:0.0:1.0	.	676	Q9UBC5	MYO1A_HUMAN	A	676;676;514	ENSP00000300119:T676A;ENSP00000393392:T676A;ENSP00000440514:T514A	ENSP00000300119:T676A	T	-	1	0	MYO1A	55717628	0.993000	0.37304	1.000000	0.80357	0.965000	0.64279	2.485000	0.45250	1.882000	0.54519	0.482000	0.46254	ACA		0.527	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
LRIG3	121227	hgsc.bcm.edu	37	12	59267964	59267964	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:59267964C>A	ENST00000320743.3	-	18	3274	c.2988G>T	c.(2986-2988)aaG>aaT	p.K996N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K936N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	996					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTTAAGTAGCTTCCTCACAT	0.413			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0			12											88.0	87.0	87.0					12																	59267964		2203	4300	6503	57554231	SO:0001583	missense	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2988G>T	12.37:g.59267964C>A	ENSP00000326759:p.Lys996Asn		57554231	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.62|12.62	1.991999|1.991999	0.35131|0.35131	.|.	.|.	ENSG00000139263|ENSG00000139263	ENST00000550825|ENST00000379141;ENST00000320743	.|T;T	.|0.62639	.|0.06;0.01	5.83|5.83	3.01|3.01	0.34805|0.34805	.|.	.|0.000000	.|0.38897	.|N	.|0.001539	T|T	0.52322|0.52322	0.1727|0.1727	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.27559	.|0.145;0.181	.|B;B	.|0.26864	.|0.054;0.074	T|T	0.41502|0.41502	-0.9505|-0.9505	5|9	.|.	.|.	.|.	.|.	9.0667|9.0667	0.36467|0.36467	0.0:0.7017:0.0:0.2983|0.0:0.7017:0.0:0.2983	.|.	.|936;996	.|Q6UXM1-2;Q6UXM1	.|.;LRIG3_HUMAN	S|N	98|936;996	.|ENSP00000368436:K936N;ENSP00000326759:K996N	.|.	A|K	-|-	1|3	0|2	LRIG3|LRIG3	57554231|57554231	0.433000|0.433000	0.25562|0.25562	0.441000|0.441000	0.26858|0.26858	0.026000|0.026000	0.11368|0.11368	0.554000|0.554000	0.23407|0.23407	1.467000|1.467000	0.48044|0.48044	0.650000|0.650000	0.86243|0.86243	GCT|AAG		0.413	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
TBK1	29110	hgsc.bcm.edu	37	12	64878186	64878186	+	Silent	SNP	C	C	T	rs529643988		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:64878186C>T	ENST00000331710.5	+	9	1435	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	366	Ubiquitin-like.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		ACCTGGAAGGCTGGCACAACA	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		17718	0.0		0.0	False		,,,				2504	0.001																0			12											60.0	62.0	61.0					12																	64878186		2203	4300	6503	63164453	SO:0001819	synonymous_variant	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1096C>T	12.37:g.64878186C>T			63164453	A8K4S4|Q8IYV3|Q9NUJ5	Silent	SNP	ENST00000331710.5	37	CCDS8968.1																																																																																				0.348	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	
MDM1	56890	hgsc.bcm.edu	37	12	68690735	68690735	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:68690735T>C	ENST00000303145.7	-	13	2086	c.2000A>G	c.(1999-2001)cAg>cGg	p.Q667R	MDM1_ENST00000540418.1_Missense_Mutation_p.Q387R|MDM1_ENST00000411698.2_Missense_Mutation_p.Q632R	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	667					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.Q667L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTGAGGTAACTGCAAATTGTT	0.313																																																	1	Substitution - Missense(1)	ovary(1)	12											128.0	122.0	124.0					12																	68690735		2202	4299	6501	66977002	SO:0001583	missense	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.2000A>G	12.37:g.68690735T>C	ENSP00000302537:p.Gln667Arg		66977002	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	T	6.399	0.441736	0.12164	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.24908	1.83;2.14;2.14	5.02	3.88	0.44766	.	0.537282	0.20336	N	0.094339	T	0.22742	0.0549	L	0.59436	1.845	0.80722	D	1	P;B	0.45827	0.867;0.041	B;B	0.39027	0.288;0.011	T	0.02498	-1.1150	9	.	.	.	-5.3148	7.8707	0.29565	0.0:0.0927:0.0:0.9073	.	632;667	E7EPQ3;Q8TC05	.;MDM1_HUMAN	R	387;667;632	ENSP00000443815:Q387R;ENSP00000302537:Q667R;ENSP00000391006:Q632R	.	Q	-	2	0	MDM1	66977002	1.000000	0.71417	0.922000	0.36590	0.293000	0.27360	1.280000	0.33202	1.065000	0.40693	-0.281000	0.10026	CAG		0.313	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128	
E2F7	144455	hgsc.bcm.edu	37	12	77419585	77419585	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:77419585C>T	ENST00000322886.7	-	12	2553	c.2318G>A	c.(2317-2319)gGt>gAt	p.G773D	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	773					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGGGAGAGCACCAAGAGTAGA	0.532																																																	0			12											56.0	57.0	57.0					12																	77419585		2203	4300	6503	75943716	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2318G>A	12.37:g.77419585C>T	ENSP00000323246:p.Gly773Asp		75943716	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.70|12.70	2.016099|2.016099	0.35606|0.35606	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000339887|ENST00000322886	.|T	.|0.16324	.|2.35	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.737835	.|0.13279	.|N	.|0.399860	.|T	.|0.12008	.|0.0292	L|L	0.29908|0.29908	0.895|0.895	0.36111|0.36111	D|D	0.844836|0.844836	.|B	.|0.16166	.|0.016	.|B	.|0.15052	.|0.012	.|T	.|0.13522	.|-1.0506	.|10	.|0.12103	.|T	.|0.63	.|-10.5033	9.8725|9.8725	0.41182|0.41182	0.0:0.9006:0.0:0.0994|0.0:0.9006:0.0:0.0994	.|.	.|773	.|Q96AV8	.|E2F7_HUMAN	.|D	-1|773	.|ENSP00000323246:G773D	.|ENSP00000323246:G773D	.|G	-|-	.|2	.|0	E2F7|E2F7	75943716|75943716	0.003000|0.003000	0.15002|0.15002	0.048000|0.048000	0.18961|0.18961	0.132000|0.132000	0.20833|0.20833	1.668000|1.668000	0.37481|0.37481	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	.|GGT		0.532	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
NAV3	89795	hgsc.bcm.edu	37	12	78516075	78516075	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:78516075C>A	ENST00000397909.2	+	16	4278	c.4105C>A	c.(4105-4107)Ctc>Atc	p.L1369I	NAV3_ENST00000536525.2_Missense_Mutation_p.L1369I|NAV3_ENST00000228327.6_Missense_Mutation_p.L1369I|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1369	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATGACTAGCCTCCACACGAG	0.567										HNSCC(70;0.22)																																							0			12											122.0	115.0	117.0					12																	78516075		2015	4198	6213	77040206	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4105C>A	12.37:g.78516075C>A	ENSP00000381007:p.Leu1369Ile		77040206	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	18.96	3.733257	0.69189	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000378640;ENST00000550788	T;T;T;T	0.36878	1.23;1.27;1.23;1.95	5.96	5.96	0.96718	.	0.000000	0.35708	U	0.003035	T	0.63189	0.2490	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.83275	0.936;0.996;0.915	T	0.62996	-0.6735	10	0.72032	D	0.01	-11.5003	20.4082	0.99013	0.0:1.0:0.0:0.0	.	1369;1369;1369	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	I	1369;1369;1369;4;12	ENSP00000446132:L1369I;ENSP00000381007:L1369I;ENSP00000228327:L1369I;ENSP00000448303:L12I	ENSP00000228327:L1369I	L	+	1	0	NAV3	77040206	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.737000	0.62066	2.814000	0.96858	0.655000	0.94253	CTC		0.567	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
PPP1R12A	4659	hgsc.bcm.edu	37	12	80214607	80214607	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:80214607C>A	ENST00000450142.2	-	8	1327	c.1061G>T	c.(1060-1062)aGc>aTc	p.S354I	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S354I|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S354I|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S267I|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S354I|RP11-530C5.2_ENST00000548469.1_RNA	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	354					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						ACTAGAGCAGCTAGACTCATC	0.378																																																	0			12											199.0	193.0	195.0					12																	80214607		1898	4100	5998	78738738	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1061G>T	12.37:g.80214607C>A	ENSP00000389168:p.Ser354Ile		78738738	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048880	0.93740	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	T;T;T;T;T;T;T	0.62232	1.02;1.02;1.04;1.02;0.96;0.99;0.04	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.997;0.998	D;D;D;D	0.83275	0.994;0.996;0.994;0.991	T	0.81824	-0.0755	10	0.66056	D	0.02	.	20.1392	0.98050	0.0:1.0:0.0:0.0	.	354;354;354;354	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	I	354;354;354;354;354;354;354;267;354;354;49	ENSP00000261207:S354I;ENSP00000389168:S354I;ENSP00000416769:S354I;ENSP00000449514:S267I;ENSP00000446855:S354I;ENSP00000446816:S354I;ENSP00000450061:S49I	ENSP00000261207:S354I	S	-	2	0	PPP1R12A	78738738	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.247000	0.78257	2.751000	0.94390	0.591000	0.81541	AGC		0.378	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480	
PTPRQ	374462	hgsc.bcm.edu	37	12	80838539	80838539	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:80838539G>A	ENST00000266688.5	+	2	73	c.73G>A	c.(73-75)Gtt>Att	p.V25I				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	67					regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TTCCAATGTCGTTCCTGGTAC	0.333																																																	0			12											362.0	289.0	311.0					12																	80838539		692	1591	2283	79362670	SO:0001583	missense	374462			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.73G>A	12.37:g.80838539G>A	ENSP00000266688:p.Val25Ile		79362670		Missense_Mutation	SNP	ENST00000266688.5	37		.	.	.	.	.	.	.	.	.	.	G	3.117	-0.181312	0.06380	.	.	ENSG00000139304	ENST00000551042;ENST00000547376;ENST00000551573;ENST00000266688	T;T;T;T	0.57273	0.41;0.41;0.41;0.61	5.82	-5.96	0.02234	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30823	0.0777	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26326	-1.0106	9	0.21014	T	0.42	.	0.6974	0.00901	0.3123:0.2973:0.1845:0.2059	.	67	Q9UMZ3	PTPRQ_HUMAN	I	227;313;243;25	ENSP00000447522:V227I;ENSP00000448844:V313I;ENSP00000449133:V243I;ENSP00000266688:V25I	ENSP00000266688:V25I	V	+	1	0	PTPRQ	79362670	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-1.056000	0.03489	-0.874000	0.04027	-0.772000	0.03388	GTT		0.333	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
EPYC	1833	hgsc.bcm.edu	37	12	91365683	91365683	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:91365683C>T	ENST00000261172.3	-	5	688	c.596G>A	c.(595-597)cGt>cAt	p.R199H		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	199					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TTTGTTGTCACGCAGGACAAG	0.383																																																	0			12											95.0	87.0	90.0					12																	91365683		2203	4300	6503	89889814	SO:0001583	missense	1833			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.596G>A	12.37:g.91365683C>T	ENSP00000261172:p.Arg199His		89889814	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860780	0.91433	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.57752	0.38;0.38	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	N	0.17379	0.485	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.61978	-0.6951	10	0.48119	T	0.1	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	199	Q99645	EPYC_HUMAN	H	199	ENSP00000261172:R199H;ENSP00000448272:R199H	ENSP00000261172:R199H	R	-	2	0	EPYC	89889814	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.341000	0.52151	2.861000	0.98227	0.655000	0.94253	CGT		0.383	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950	
C12orf42	374470	hgsc.bcm.edu	37	12	103699965	103699965	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:103699965C>T	ENST00000378113.2	-	5	643	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Missense_Mutation_p.A73T|C12orf42_ENST00000548883.1_Missense_Mutation_p.A140T|C12orf42_ENST00000548789.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	140										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ATCAATGGGGCCTCATCAGTT	0.453																																																	0			12											72.0	74.0	73.0					12																	103699965		1858	4108	5966	102224095	SO:0001583	missense	374470			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.418G>A	12.37:g.103699965C>T	ENSP00000367353:p.Ala140Thr		102224095	Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	7.002	0.555066	0.13436	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.34	-2.62	0.06152	.	2.083010	0.02499	N	0.090311	T	0.23133	0.0559	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09796	-1.0658	10	0.25106	T	0.35	8.8502	5.3045	0.15795	0.1577:0.2212:0.0:0.6212	.	140	Q96LP6	CL042_HUMAN	T	140;73;140;140	ENSP00000447908:A140T;ENSP00000449362:A73T;ENSP00000367353:A140T;ENSP00000447795:A140T	ENSP00000367353:A140T	A	-	1	0	C12orf42	102224095	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.315000	0.08081	-0.546000	0.06216	-0.368000	0.07277	GCC		0.453	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521	
NT5DC3	51559	hgsc.bcm.edu	37	12	104171699	104171699	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:104171699G>A	ENST00000392876.3	-	14	1595	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	519						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R444G(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGAGTCCTCCGGGGGTAGAAA	0.622																																																	1	Substitution - Missense(1)	ovary(1)	12											64.0	67.0	66.0					12																	104171699		2203	4300	6503	102695829	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1555C>T	12.37:g.104171699G>A	ENSP00000376615:p.Arg519Trp		102695829	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498814	0.85069	.	.	ENSG00000111696	ENST00000392876	T	0.24151	1.87	5.8	-2.53	0.06326	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	M	0.86573	2.825	0.52099	D	0.999941	D	0.89917	1.0	D	0.76071	0.987	T	0.65265	-0.6210	10	0.87932	D	0	-24.1928	18.7136	0.91667	0.0:0.0:0.3514:0.6486	.	519	Q86UY8	NT5D3_HUMAN	W	519	ENSP00000376615:R519W	ENSP00000376615:R519W	R	-	1	2	NT5DC3	102695829	1.000000	0.71417	0.884000	0.34674	0.998000	0.95712	1.174000	0.31932	-0.719000	0.04942	0.655000	0.94253	CGG		0.622	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575	
HCFC2	29915	hgsc.bcm.edu	37	12	104487253	104487253	+	Silent	SNP	G	G	A	rs142462488	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:104487253G>A	ENST00000229330.4	+	10	1478	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	458					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAGCACTGACGGATTCTAATG	0.338																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0			12						G		0,4406		0,0,2203	97.0	91.0	93.0		1374	-0.1	0.1	12	dbSNP_134	93	1,8597		0,1,4298	no	coding-synonymous	HCFC2	NM_013320.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		458/793	104487253	1,13003	2203	4299	6502	103011383	SO:0001819	synonymous_variant	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1374G>A	12.37:g.104487253G>A			103011383	B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	CCDS9097.1																																																																																				0.338	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320	
USP30	84749	hgsc.bcm.edu	37	12	109523555	109523555	+	Missense_Mutation	SNP	G	G	A	rs200435024		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:109523555G>A	ENST00000257548.5	+	13	1466	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q	USP30_ENST00000392784.2_Missense_Mutation_p.R427Q	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	458	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ACTTACCGACGGTCCCCACCT	0.567																																																	0			12											160.0	129.0	140.0					12																	109523555		2203	4300	6503	108007938	SO:0001583	missense	84749			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1373G>A	12.37:g.109523555G>A	ENSP00000257548:p.Arg458Gln		108007938	Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	G	36	5.839967	0.97009	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.76839	-1.05;-1.05	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.87977	0.6314	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.88499	0.3081	10	0.72032	D	0.01	-38.7726	18.7287	0.91726	0.0:0.0:1.0:0.0	.	458;427	Q70CQ3;B3KUS5	UBP30_HUMAN;.	Q	427;458	ENSP00000376535:R427Q;ENSP00000257548:R458Q	ENSP00000257548:R458Q	R	+	2	0	USP30	108007938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.355000	0.97087	2.655000	0.90218	0.655000	0.94253	CGG		0.567	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663	
ACACB	32	hgsc.bcm.edu	37	12	109704163	109704163	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:109704163C>T	ENST00000338432.7	+	53	7492	c.7373C>T	c.(7372-7374)aCc>aTc	p.T2458I	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.T2388I|ACACB_ENST00000377848.3_Missense_Mutation_p.T2458I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2458					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCGGCCTCCACCTGACCGTGG	0.632																																																	0			12											36.0	34.0	35.0					12																	109704163		2203	4300	6503	108188546	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.7373C>T	12.37:g.109704163C>T	ENSP00000341044:p.Thr2458Ile		108188546	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756879	0.49362	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	D;D;D	0.95756	-3.8;-3.8;-3.8	4.93	3.06	0.35304	.	0.487974	0.21260	N	0.077484	D	0.91707	0.7378	L	0.29908	0.895	0.80722	D	1	P	0.39717	0.684	B	0.41374	0.355	D	0.89621	0.3848	10	0.87932	D	0	.	10.6842	0.45833	0.1388:0.5931:0.2681:0.0	.	2458	O00763	ACACB_HUMAN	I	2458;2458;2388;1689;152	ENSP00000341044:T2458I;ENSP00000367079:T2458I;ENSP00000367085:T2388I	ENSP00000341044:T2458I	T	+	2	0	ACACB	108188546	0.149000	0.22717	0.993000	0.49108	0.432000	0.31715	1.437000	0.34991	0.579000	0.29504	-0.165000	0.13383	ACC		0.632	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
UBE3B	89910	hgsc.bcm.edu	37	12	109972419	109972419	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:109972419C>T	ENST00000342494.3	+	28	3634	c.3039C>T	c.(3037-3039)agC>agT	p.S1013S	UBE3B_ENST00000434735.2_Silent_p.S1013S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1013	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCTGGGCAGCGTCCTCCGGG	0.647																																																	0			12											43.0	43.0	43.0					12																	109972419		2203	4300	6503	108456802	SO:0001819	synonymous_variant	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.3039C>T	12.37:g.109972419C>T			108456802	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	CCDS9129.1																																																																																				0.647	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415	
PPTC7	160760	hgsc.bcm.edu	37	12	110989689	110989689	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:110989689C>T	ENST00000354300.3	-	2	596	c.308G>A	c.(307-309)cGt>cAt	p.R103H		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	103	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						TTTTACTAAACGTTCACACGT	0.443																																																	0			12											141.0	123.0	129.0					12																	110989689		2203	4300	6503	109474072	SO:0001583	missense	160760			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.308G>A	12.37:g.110989689C>T	ENSP00000346255:p.Arg103His		109474072	B3KWC5|Q68DZ7|Q6UY82	Missense_Mutation	SNP	ENST00000354300.3	37	CCDS9149.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934588	0.92458	.	.	ENSG00000196850	ENST00000354300	.	.	.	5.96	5.96	0.96718	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	L	0.54965	1.715	0.80722	D	1	P	0.39831	0.69	P	0.45538	0.484	T	0.66830	-0.5824	9	0.51188	T	0.08	-11.113	20.4082	0.99013	0.0:1.0:0.0:0.0	.	103	Q8NI37	PPTC7_HUMAN	H	103	.	ENSP00000346255:R103H	R	-	2	0	PPTC7	109474072	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.814000	0.86154	2.814000	0.96858	0.655000	0.94253	CGT		0.443	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283	
MAPKAPK5	8550	hgsc.bcm.edu	37	12	112321565	112321565	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:112321565G>A	ENST00000551404.2	+	9	949	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.V281M			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						CAAAGATGTTGTGAGGAAGTG	0.522																																																	0			12											88.0	85.0	86.0					12																	112321565		1989	4179	6168	110805948	SO:0001583	missense	8550			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.841G>A	12.37:g.112321565G>A	ENSP00000449381:p.Val281Met		110805948	B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810968	0.90707	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000553053;ENST00000551404	T;T	0.68624	-0.34;-0.34	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81206	0.4774	M	0.66939	2.045	0.80722	D	1	D;D;D	0.63880	0.992;0.993;0.991	D;D;P	0.72982	0.979;0.912;0.857	T	0.82784	-0.0286	10	0.72032	D	0.01	.	18.9881	0.92780	0.0:0.0:1.0:0.0	.	275;281;281	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	M	281;281;281;48;281	ENSP00000449667:V281M;ENSP00000449381:V281M	ENSP00000202788:V281M	V	+	1	0	MAPKAPK5	110805948	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.484000	0.83849	0.557000	0.71058	GTG		0.522	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078	
RHOF	54509	hgsc.bcm.edu	37	12	122219074	122219074	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:122219074C>T	ENST00000267205.2	-	3	879	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_Intron|RHOF_ENST00000537265.1_5'UTR|RHOF_ENST00000537171.1_Missense_Mutation_p.R84Q	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	84					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGACAGGGGCCGCAGCCGGTC	0.622																																																	0			12											106.0	100.0	102.0					12																	122219074		2203	4300	6503	120703457	SO:0001583	missense	54509			AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.251G>A	12.37:g.122219074C>T	ENSP00000267205:p.Arg84Gln		120703457	Q8WVB1|Q9NXH6	Missense_Mutation	SNP	ENST00000267205.2	37	CCDS9222.1	.	.	.	.	.	.	.	.	.	.	C	36	5.813918	0.96975	.	.	ENSG00000139725	ENST00000267205;ENST00000535560	T;T	0.72167	-0.63;-0.63	5.03	5.03	0.67393	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94399	0.7621	10	0.87932	D	0	.	18.3082	0.90189	0.0:1.0:0.0:0.0	.	84;84	Q9HBH0-2;Q9HBH0	.;RHOF_HUMAN	Q	84	ENSP00000267205:R84Q;ENSP00000440397:R84Q	ENSP00000267205:R84Q	R	-	2	0	RHOF	120703457	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.401000	0.79962	2.488000	0.83962	0.650000	0.86243	CGG		0.622	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1		
RSRC2	65117	hgsc.bcm.edu	37	12	123001814	123001814	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:123001814G>A	ENST00000331738.7	-	5	707	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	RSRC2_ENST00000354654.2_Missense_Mutation_p.H140Y	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	188	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CTAGTCCTATGCCTGTGTCTT	0.473																																																	0			12											223.0	184.0	197.0					12																	123001814		2203	4300	6503	121567767	SO:0001583	missense	65117			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.562C>T	12.37:g.123001814G>A	ENSP00000330188:p.His188Tyr		121567767	Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028589	0.75390	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.21734	1.99;1.99;1.99	5.48	5.48	0.80851	.	0.143804	0.64402	D	0.000005	T	0.23094	0.0558	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.56968	0.978;0.957;0.978;0.957	P;B;P;B	0.47528	0.549;0.395;0.549;0.395	T	0.01416	-1.1360	10	0.59425	D	0.04	.	19.3576	0.94421	0.0:0.0:1.0:0.0	.	188;140;188;129	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.;.;RSRC2_HUMAN;.	Y	188;140;188;129	ENSP00000330188:H188Y;ENSP00000346678:H140Y;ENSP00000343315:H129Y	ENSP00000330188:H188Y	H	-	1	0	RSRC2	121567767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.700000	0.91322	2.589000	0.87451	0.655000	0.94253	CAT		0.473	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012	
EP400	57634	hgsc.bcm.edu	37	12	132471280	132471280	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:132471280A>G	ENST00000333577.4	+	7	2368	c.2259A>G	c.(2257-2259)ccA>ccG	p.P753P	EP400_ENST00000389561.2_Silent_p.P717P|EP400_ENST00000332482.4_Silent_p.P680P|EP400_ENST00000389562.2_Silent_p.P716P|EP400_ENST00000330386.6_Silent_p.P717P			Q96L91	EP400_HUMAN	E1A binding protein p400	753					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCACCAAACCACAGAGTCCTG	0.502																																																	0			12											121.0	124.0	123.0					12																	132471280		2203	4300	6503	131037233	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2259A>G	12.37:g.132471280A>G			131037233	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.502	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
DDX51	317781	hgsc.bcm.edu	37	12	132624675	132624675	+	Silent	SNP	G	G	A	rs531852048		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:132624675G>A	ENST00000397333.3	-	12	1781	c.1743C>T	c.(1741-1743)gaC>gaT	p.D581D		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	581	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		ACTGGGGGGCGTCGTAGTTCA	0.677																																																	0			12											55.0	63.0	61.0					12																	132624675		2153	4237	6390	131190628	SO:0001819	synonymous_variant	317781			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1743C>T	12.37:g.132624675G>A			131190628	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	CCDS41865.1																																																																																				0.677	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066	
OTUD7A	161725	hgsc.bcm.edu	37	15	31822970	31822970	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:31822970G>A	ENST00000307050.4	-	4	684	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R198W	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	198	Catalytic. {ECO:0000250}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGAAGAAGCCGTTTACAGCTC	0.562																																																	0			15											126.0	103.0	111.0					15																	31822970		2201	4300	6501	29610262	SO:0001583	missense	161725			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.592C>T	15.37:g.31822970G>A	ENSP00000305926:p.Arg198Trp		29610262	Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297361	0.81025	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.38240	1.15;1.19	6.06	4.14	0.48551	.	0.057428	0.64402	D	0.000002	T	0.53061	0.1773	L	0.52573	1.65	0.41149	D	0.986013	D;D	0.89917	1.0;0.999	D;P	0.67231	0.95;0.893	T	0.57021	-0.7882	10	0.87932	D	0	-30.6992	15.4002	0.74834	0.0:0.0:0.7387:0.2612	.	198;198	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	W	198	ENSP00000305926:R198W;ENSP00000372358:R198W	ENSP00000305926:R198W	R	-	1	2	OTUD7A	29610262	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.151000	0.64875	0.837000	0.34925	0.650000	0.86243	CGG		0.562	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901	
PGBD4	161779	hgsc.bcm.edu	37	15	34396124	34396124	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:34396124G>A	ENST00000397766.2	+	1	1851	c.1392G>A	c.(1390-1392)gtG>gtA	p.V464V	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	464										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACATTACAGTGCTGAACTCCT	0.408																																																	0			15											76.0	70.0	72.0					15																	34396124		2201	4298	6499	32183416	SO:0001819	synonymous_variant	161779			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1392G>A	15.37:g.34396124G>A			32183416	A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	CCDS10033.1																																																																																				0.408	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1		
NUTM1	256646	hgsc.bcm.edu	37	15	34640224	34640224	+	Missense_Mutation	SNP	C	C	A	rs528007806		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:34640224C>A	ENST00000333756.4	+	2	226	c.71C>A	c.(70-72)cCa>cAa	p.P24Q	NUTM1_ENST00000537011.1_Missense_Mutation_p.P52Q|NUTM1_ENST00000438749.3_Missense_Mutation_p.P42Q	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	24	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCCCGTCTCCATCCCCTGCA	0.532																																																	0			15											126.0	114.0	118.0					15																	34640224		2201	4298	6499	32427516	SO:0001583	missense	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.71C>A	15.37:g.34640224C>A	ENSP00000329448:p.Pro24Gln		32427516	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674688	0.67928	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.23754	1.89;1.89;1.89	5.69	5.69	0.88448	Nuclear Testis  protein, N-terminal (1);	0.418208	0.20595	N	0.089265	T	0.47838	0.1467	M	0.67953	2.075	0.19300	N	0.99998	D;D;D	0.62365	0.991;0.989;0.991	D;P;D	0.64877	0.93;0.885;0.93	T	0.38457	-0.9660	10	0.48119	T	0.1	.	15.3253	0.74157	0.0:1.0:0.0:0.0	.	42;52;24	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	Q	52;42;24;24	ENSP00000444896:P52Q;ENSP00000407031:P42Q;ENSP00000329448:P24Q	ENSP00000329448:P24Q	P	+	2	0	C15orf55	32427516	0.041000	0.20044	0.222000	0.23844	0.005000	0.04900	1.491000	0.35583	2.692000	0.91855	0.655000	0.94253	CCA		0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
RPUSD2	27079	hgsc.bcm.edu	37	15	40866329	40866329	+	Missense_Mutation	SNP	C	C	T	rs532193389		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:40866329C>T	ENST00000315616.7	+	3	1545	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	RPUSD2_ENST00000559271.1_Missense_Mutation_p.R442W	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	503					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGCAGAGTGCCGGCTGGTGCG	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21886	0.0		0.0	False		,,,				2504	0.0																0			15											71.0	59.0	63.0					15																	40866329		2203	4300	6503	38653621	SO:0001583	missense	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.1507C>T	15.37:g.40866329C>T	ENSP00000323288:p.Arg503Trp		38653621	B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390051	0.61956	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.33438	1.41	5.22	5.22	0.72569	Pseudouridine synthase, catalytic domain (1);	0.271892	0.39687	N	0.001288	T	0.52273	0.1724	M	0.76002	2.32	0.42532	D	0.993045	D	0.76494	0.999	D	0.67548	0.952	T	0.55134	-0.8188	10	0.72032	D	0.01	-13.7546	11.5676	0.50815	0.2914:0.7086:0.0:0.0	.	503	Q8IZ73	RUSD2_HUMAN	W	503;482	ENSP00000323288:R503W	ENSP00000323288:R503W	R	+	1	2	RPUSD2	38653621	1.000000	0.71417	0.997000	0.53966	0.858000	0.48976	4.199000	0.58426	2.717000	0.92951	0.563000	0.77884	CGG		0.532	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260	
CHAC1	79094	hgsc.bcm.edu	37	15	41247727	41247727	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:41247727G>A	ENST00000446533.3	+	3	859	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	CHAC1_ENST00000444189.2_Intron|CHAC1_ENST00000487220.1_5'UTR	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	184					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GAAGGCATTGGCCTATGTGGC	0.597																																																	0			15											179.0	150.0	159.0					15																	41247727		2203	4300	6503	39035019	SO:0001583	missense	79094			BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 1"""	614587	"""ChaC, cation transport regulator-like 1 (E. coli)"""			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.550G>A	15.37:g.41247727G>A	ENSP00000398105:p.Ala184Thr		39035019	Q0VIA0	Missense_Mutation	SNP	ENST00000446533.3	37	CCDS10070.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371662	0.42003	.	.	ENSG00000128965	ENST00000446533	T	0.42131	0.98	6.03	5.11	0.69529	Butirosin biosynthesis, BtrG-like (1);	0.110266	0.64402	D	0.000011	T	0.26991	0.0661	N	0.02247	-0.625	0.80722	D	1	B	0.25486	0.127	B	0.35859	0.212	T	0.19386	-1.0307	10	0.37606	T	0.19	-26.1268	17.3355	0.87280	0.0:0.1252:0.8748:0.0	.	184	Q9BUX1	CHAC1_HUMAN	T	184	ENSP00000398105:A184T	ENSP00000398105:A184T	A	+	1	0	CHAC1	39035019	1.000000	0.71417	0.995000	0.50966	0.001000	0.01503	7.826000	0.86716	1.535000	0.49220	-0.175000	0.13238	GCC		0.597	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3	NM_024111	
MAPKBP1	23005	hgsc.bcm.edu	37	15	42107532	42107532	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:42107532A>G	ENST00000456763.2	+	12	1460	c.1264A>G	c.(1264-1266)Acc>Gcc	p.T422A	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.T299A|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.T416A|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.T416A	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	422										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTCAGACAACACCATCCGCCT	0.602																																																	0			15											89.0	83.0	85.0					15																	42107532		2203	4300	6503	39894824	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1264A>G	15.37:g.42107532A>G	ENSP00000393099:p.Thr422Ala		39894824	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	32	5.132889	0.94517	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566	T;T;T;T	0.69435	-0.4;0.35;-0.4;-0.4	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.87578	0.998;0.998;0.973	D	0.86507	0.1807	10	0.59425	D	0.04	-24.2414	15.9854	0.80147	1.0:0.0:0.0:0.0	.	416;422;416	O60336-2;O60336;O60336-6	.;MABP1_HUMAN;.	A	416;299;422;416	ENSP00000397570:T416A;ENSP00000221214:T299A;ENSP00000393099:T422A;ENSP00000426154:T416A	ENSP00000221214:T299A	T	+	1	0	MAPKBP1	39894824	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.169000	0.94788	2.175000	0.68902	0.454000	0.30748	ACC		0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
TGM7	116179	hgsc.bcm.edu	37	15	43568766	43568766	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:43568766G>T	ENST00000452443.2	-	13	2024	c.2020C>A	c.(2020-2022)Ctc>Atc	p.L674I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	674					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTCGGGTAGAGGTCCAGTTGA	0.577																																																	0			15											156.0	134.0	141.0					15																	43568766		2202	4299	6501	41356058	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.2020C>A	15.37:g.43568766G>T	ENSP00000389466:p.Leu674Ile		41356058		Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	0.979	-0.697826	0.03279	.	.	ENSG00000159495	ENST00000452443	T	0.66995	-0.24	4.61	2.57	0.30868	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.147023	0.45361	D	0.000368	T	0.61299	0.2336	L	0.32530	0.975	0.28102	N	0.931383	D	0.67145	0.996	D	0.65573	0.936	T	0.54984	-0.8211	10	0.08381	T	0.77	-15.5703	3.7723	0.08646	0.2031:0.0:0.6035:0.1934	.	674	Q96PF1	TGM7_HUMAN	I	674	ENSP00000389466:L674I	ENSP00000389466:L674I	L	-	1	0	TGM7	41356058	0.992000	0.36948	0.995000	0.50966	0.072000	0.16883	1.096000	0.30976	1.067000	0.40740	0.585000	0.79938	CTC		0.577	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
TP53BP1	7158	hgsc.bcm.edu	37	15	43720315	43720315	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:43720315G>A	ENST00000263801.3	-	18	3964	c.3712C>T	c.(3712-3714)Cgt>Tgt	p.R1238C	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1243C|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1243C|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1243C	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1238					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTCATGTGACGATGTAAGACA	0.438								Other conserved DNA damage response genes																																									0			15											228.0	198.0	208.0					15																	43720315		2201	4298	6499	41507607	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3712C>T	15.37:g.43720315G>A	ENSP00000263801:p.Arg1238Cys		41507607	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659934	0.88154	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.09255	3.12;3.12;3.0;3.11	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.997;0.999;0.999	T	0.00785	-1.1567	10	0.87932	D	0	-8.1402	19.7689	0.96353	0.0:0.0:1.0:0.0	.	1243;1238;1243;1243	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	C	1238;1243;1243;1243	ENSP00000263801:R1238C;ENSP00000371475:R1243C;ENSP00000371470:R1243C;ENSP00000393497:R1243C	ENSP00000263801:R1238C	R	-	1	0	TP53BP1	41507607	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.853000	0.62911	2.747000	0.94245	0.650000	0.86243	CGT		0.438	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
PPIP5K1	9677	hgsc.bcm.edu	37	15	43831689	43831689	+	Missense_Mutation	SNP	G	G	A	rs202101760	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:43831689G>A	ENST00000396923.3	-	29	3599	c.3478C>T	c.(3478-3480)Cgc>Tgc	p.R1160C	PPIP5K1_ENST00000334933.4_Missense_Mutation_p.R1135C|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.R1093C|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.R1136C|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.R1135C|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.R1093C|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.R1156C|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.R1160C			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1160					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						TTCTCAGAGCGCTGCTGGAGT	0.507													G|||	4	0.000798722	0.0	0.0	5008	,	,		17824	0.004		0.0	False		,,,				2504	0.0																0			15											81.0	78.0	79.0					15																	43831689		2201	4298	6499	41618981	SO:0001583	missense	9677			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3478C>T	15.37:g.43831689G>A	ENSP00000380129:p.Arg1160Cys		41618981	O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	CCDS45252.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	16.27	3.076826	0.55753	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806	T;T;T;T;T;T;T;T	0.25579	1.82;1.79;2.25;1.79;1.82;1.82;1.81;2.25	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.55481	1.735	0.47123	D	0.999321	B;B;B	0.14805	0.003;0.003;0.011	B;B;B	0.14023	0.01;0.002;0.005	T	0.03043	-1.1079	10	0.54805	T	0.06	-11.7042	15.6884	0.77430	0.0:0.0:1.0:0.0	.	1093;1160;1135	Q6PFW1-7;Q6PFW1;Q6PFW1-3	.;VIP1_HUMAN;.	C	1156;1135;1093;1135;1160;1160;1135;1160;1136;1093	ENSP00000371309:R1156C;ENSP00000353446:R1135C;ENSP00000353253:R1093C;ENSP00000334779:R1135C;ENSP00000380129:R1160C;ENSP00000400887:R1160C;ENSP00000371303:R1136C;ENSP00000308773:R1093C	ENSP00000304750:R1160C	R	-	1	0	PPIP5K1	41618981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.545000	0.53648	2.628000	0.89032	0.557000	0.71058	CGC		0.507	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659	
PRTG	283659	hgsc.bcm.edu	37	15	55971556	55971556	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:55971556G>T	ENST00000389286.4	-	7	1108	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTTGGGAGAGGGGATTCCTTC	0.413																																																	0			15											123.0	111.0	115.0					15																	55971556		1836	4091	5927	53758848	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1061C>A	15.37:g.55971556G>T	ENSP00000373937:p.Pro354His		53758848		Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125291	0.77436	.	.	ENSG00000166450	ENST00000389286	T	0.74526	-0.85	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90390	0.6992	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91676	0.5354	10	0.51188	T	0.08	-16.8019	18.8612	0.92273	0.0:0.0:1.0:0.0	.	354	Q2VWP7	PRTG_HUMAN	H	354	ENSP00000373937:P354H	ENSP00000373937:P354H	P	-	2	0	PRTG	53758848	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	9.400000	0.97290	2.690000	0.91761	0.591000	0.81541	CCC		0.413	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814	
RFX7	64864	hgsc.bcm.edu	37	15	56385803	56385803	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:56385803T>C	ENST00000559447.2	-	9	4103	c.3832A>G	c.(3832-3834)Aat>Gat	p.N1278D	RFX7_ENST00000317318.6_Intron|RFX7_ENST00000423270.1_Missense_Mutation_p.N1375D|RFX7_ENST00000422057.1_Intron			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1278					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GATGCAGTATTAGTGAGATCA	0.433																																																	0			15											74.0	71.0	72.0					15																	56385803		1959	4147	6106	54173095	SO:0001583	missense	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3832A>G	15.37:g.56385803T>C	ENSP00000453281:p.Asn1278Asp		54173095	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	T	9.161	1.018661	0.19355	.	.	ENSG00000181827	ENST00000423270	T	0.53423	0.62	5.65	5.65	0.86999	.	2.300670	0.03398	U	0.202881	T	0.43567	0.1253	N	0.24115	0.695	0.09310	N	1	B	0.19817	0.039	B	0.14023	0.01	T	0.38802	-0.9644	10	0.52906	T	0.07	-4.2798	15.0116	0.71555	0.0:0.0:0.0:1.0	.	1278	Q2KHR2	RFX7_HUMAN	D	1375	ENSP00000397644:N1375D	ENSP00000397644:N1375D	N	-	1	0	RFX7	54173095	0.995000	0.38212	0.008000	0.14137	0.954000	0.61252	3.605000	0.54088	2.279000	0.76181	0.533000	0.62120	AAT		0.433	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	
ZNF280D	54816	hgsc.bcm.edu	37	15	56959017	56959017	+	Silent	SNP	G	G	A	rs141387666	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:56959017G>A	ENST00000267807.7	-	15	1929	c.1713C>T	c.(1711-1713)aaC>aaT	p.N571N	ZNF280D_ENST00000396245.1_Silent_p.N275N|ZNF280D_ENST00000559000.1_Silent_p.N558N|ZNF280D_ENST00000559237.1_Silent_p.N558N	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N571K(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GTTTACTTGCGTTGGATTTGA	0.343																																																	1	Substitution - Missense(1)	endometrium(1)	15						G	,	1,4383	2.1+/-5.4	0,1,2191	141.0	147.0	145.0		1674,1713	-1.3	0.0	15	dbSNP_134	145	1,8583	1.2+/-3.3	0,1,4291	no	coding-synonymous,coding-synonymous	ZNF280D	NM_001002843.1,NM_017661.2	,	0,2,6482	AA,AG,GG		0.0116,0.0228,0.0154	,	558/967,571/980	56959017	2,12966	2192	4292	6484	54746309	SO:0001819	synonymous_variant	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1713C>T	15.37:g.56959017G>A			54746309	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	CCDS32245.1																																																																																				0.343	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867	
HERC1	8925	hgsc.bcm.edu	37	15	64048879	64048879	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:64048879G>A	ENST00000443617.2	-	5	1377	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	430					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCCATAGCTGCCTTTCCCGC	0.383																																																	0			15											27.0	26.0	26.0					15																	64048879		1868	4108	5976	61835932	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1290C>T	15.37:g.64048879G>A			61835932	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.383	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
ITGA11	22801	hgsc.bcm.edu	37	15	68661571	68661571	+	Silent	SNP	G	G	A	rs185148260	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:68661571G>A	ENST00000315757.7	-	3	302	c.216C>T	c.(214-216)gaC>gaT	p.D72D	ITGA11_ENST00000423218.2_Silent_p.D72D	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	72					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						ACTTGTACACGTCTCCCGTCT	0.552													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		14674	0.0		0.0	False		,,,				2504	0.0																0			15						G		37,4105		0,37,2034	139.0	143.0	141.0		216	-0.5	1.0	15		141	1,8429		0,1,4214	no	coding-synonymous	ITGA11	NM_001004439.1		0,38,6248	AA,AG,GG		0.0119,0.8933,0.3023		72/1189	68661571	38,12534	2071	4215	6286	66448625	SO:0001819	synonymous_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.216C>T	15.37:g.68661571G>A			66448625	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																				0.552	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
TLE3	7090	hgsc.bcm.edu	37	15	70345690	70345690	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:70345690C>T	ENST00000558939.1	-	17	3236	c.1859G>A	c.(1858-1860)gGg>gAg	p.G620E	TLE3_ENST00000451782.2_Missense_Mutation_p.G617E|TLE3_ENST00000557907.1_Missense_Mutation_p.G612E|TLE3_ENST00000558379.1_Missense_Mutation_p.G615E|TLE3_ENST00000442299.2_Missense_Mutation_p.G612E|TLE3_ENST00000317509.8_Missense_Mutation_p.G608E|TLE3_ENST00000560939.1_Missense_Mutation_p.G622E|TLE3_ENST00000557997.1_Missense_Mutation_p.G612E|TLE3_ENST00000559929.1_Missense_Mutation_p.G630E|TLE3_ENST00000559048.1_Missense_Mutation_p.G620E|TLE3_ENST00000440567.3_Missense_Mutation_p.G610E|TLE3_ENST00000560589.1_Missense_Mutation_p.G564E|TLE3_ENST00000559191.1_Missense_Mutation_p.G201E|TLE3_ENST00000539550.1_Missense_Mutation_p.G547E|TLE3_ENST00000558201.1_Missense_Mutation_p.G626E	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	620					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCAGCTGGCCCCATCTGTGTG	0.647																																																	0			15											57.0	60.0	59.0					15																	70345690		2106	4251	6357	68132744	SO:0001583	missense	7090			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1859G>A	15.37:g.70345690C>T	ENSP00000452871:p.Gly620Glu		68132744	B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659552	0.88154	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	L	0.33485	1.01	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.70357	-0.4894	10	0.62326	D	0.03	-3.0698	18.3882	0.90473	0.0:1.0:0.0:0.0	.	610;617;612;615;608;620;620;547	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	E	612;617;620;610;547	ENSP00000390007:G612E;ENSP00000394717:G617E;ENSP00000415057:G610E;ENSP00000442594:G547E	ENSP00000319233:G620E	G	-	2	0	TLE3	68132744	1.000000	0.71417	0.999000	0.59377	0.717000	0.41224	7.512000	0.81728	2.686000	0.91538	0.561000	0.74099	GGG		0.647	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078	
UACA	55075	hgsc.bcm.edu	37	15	70987400	70987400	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:70987400G>A	ENST00000322954.6	-	3	442	c.257C>T	c.(256-258)gCc>gTc	p.A86V	UACA_ENST00000539319.1_Missense_Mutation_p.A86V|UACA_ENST00000560441.1_Missense_Mutation_p.A73V|UACA_ENST00000379983.2_Missense_Mutation_p.A73V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	86					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TATAAGGATGGCATTCAAACA	0.348																																																	0			15											109.0	101.0	104.0					15																	70987400		2199	4297	6496	68774454	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.257C>T	15.37:g.70987400G>A	ENSP00000314556:p.Ala86Val		68774454	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762599	0.31228	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.64618	-0.09;-0.09;-0.11	5.61	4.7	0.59300	Ankyrin repeat-containing domain (4);	0.226670	0.31145	N	0.008178	T	0.32102	0.0818	N	0.03016	-0.435	0.09310	N	0.999995	B;B;B;B	0.16603	0.001;0.005;0.013;0.018	B;B;B;B	0.20955	0.006;0.032;0.032;0.011	T	0.21042	-1.0257	10	0.02654	T	1	-6.0242	10.9183	0.47150	0.143:0.0:0.857:0.0	.	86;86;86;73	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	86;73;73;86	ENSP00000314556:A86V;ENSP00000369319:A73V;ENSP00000438667:A86V	ENSP00000314556:A86V	A	-	2	0	UACA	68774454	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.315000	0.51951	1.384000	0.46424	-0.127000	0.14921	GCC		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
TMEM202	338949	hgsc.bcm.edu	37	15	72691085	72691085	+	Missense_Mutation	SNP	C	C	T	rs147492128	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:72691085C>T	ENST00000341689.3	+	2	227	c.173C>T	c.(172-174)aCg>aTg	p.T58M	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	58						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TACATCCGAACGCTCTGTGGC	0.522													C|||	3	0.000599042	0.0	0.0014	5008	,	,		19497	0.0		0.002	False		,,,				2504	0.0																0			15						C	MET/THR	1,4397	2.1+/-5.4	0,1,2198	157.0	111.0	127.0		173	2.2	1.0	15	dbSNP_134	127	8,8586	6.4+/-24.3	0,8,4289	yes	missense	TMEM202	NM_001080462.1	81	0,9,6487	TT,TC,CC		0.0931,0.0227,0.0693	benign	58/274	72691085	9,12983	2199	4297	6496	70478139	SO:0001583	missense	338949				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.173C>T	15.37:g.72691085C>T	ENSP00000340212:p.Thr58Met		70478139		Missense_Mutation	SNP	ENST00000341689.3	37	CCDS32287.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	0.003	-2.445162	0.00178	2.27E-4	9.31E-4	ENSG00000187806	ENST00000341689	T	0.42513	0.97	4.47	2.15	0.27550	.	0.427236	0.20657	N	0.088087	T	0.09468	0.0233	N	0.00392	-1.555	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21552	-1.0242	10	0.06099	T	0.92	-27.5485	5.9751	0.19373	0.0:0.2102:0.0:0.7898	.	58	A6NGA9	TM202_HUMAN	M	58	ENSP00000340212:T58M	ENSP00000340212:T58M	T	+	2	0	TMEM202	70478139	1.000000	0.71417	0.970000	0.41538	0.001000	0.01503	0.447000	0.21710	0.265000	0.21872	-0.238000	0.12139	ACG		0.522	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462	
ISLR2	57611	hgsc.bcm.edu	37	15	74425505	74425505	+	Missense_Mutation	SNP	C	C	A	rs3889598	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:74425505C>A	ENST00000361742.3	+	4	1179	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.S137Y|ISLR2_ENST00000419208.1_Missense_Mutation_p.S137Y|ISLR2_ENST00000445793.1_Missense_Mutation_p.S137Y|ISLR2_ENST00000453268.2_Missense_Mutation_p.S137Y|ISLR2_ENST00000565540.1_Missense_Mutation_p.S137Y|ISLR2_ENST00000435464.1_Missense_Mutation_p.S137Y	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	137			S -> F (in dbSNP:rs3889598).		positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGCCTGGGCTCTCTGCCCCGG	0.632																																																	0			15											57.0	60.0	59.0					15																	74425505		2198	4297	6495	72212558	SO:0001583	missense	57611				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.410C>A	15.37:g.74425505C>A	ENSP00000355402:p.Ser137Tyr		72212558	A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749150	0.30955	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	4.46	4.46	0.54185	.	0.318283	0.29417	U	0.012202	T	0.51466	0.1676	L	0.33245	0.995	0.37593	D	0.920274	D	0.58620	0.983	P	0.56563	0.801	T	0.53613	-0.8414	10	0.33141	T	0.24	.	8.8313	0.35085	0.2745:0.5872:0.1383:0.0	.	137	Q6UXK2	ISLR2_HUMAN	Y	137	ENSP00000403244:S137Y;ENSP00000355402:S137Y;ENSP00000411443:S137Y;ENSP00000411834:S137Y;ENSP00000408872:S137Y	ENSP00000355402:S137Y	S	+	2	0	ISLR2	72212558	0.002000	0.14202	0.979000	0.43373	0.867000	0.49689	0.610000	0.24253	2.042000	0.60477	0.407000	0.27541	TCT		0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851	
ISLR2	57611	hgsc.bcm.edu	37	15	74426457	74426457	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:74426457G>A	ENST00000361742.3	+	4	2131	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.A454A|ISLR2_ENST00000419208.1_Silent_p.A454A|ISLR2_ENST00000445793.1_Silent_p.A454A|ISLR2_ENST00000453268.2_Silent_p.A454A|ISLR2_ENST00000565540.1_Silent_p.A454A|ISLR2_ENST00000435464.1_Silent_p.A454A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	454					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGGACCCGGCGGAGGAGCAGC	0.657																																																	0			15											31.0	34.0	33.0					15																	74426457		2196	4297	6493	72213510	SO:0001819	synonymous_variant	57611				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1362G>A	15.37:g.74426457G>A			72213510	A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	CCDS10259.1																																																																																				0.657	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851	
SEMA7A	8482	hgsc.bcm.edu	37	15	74703249	74703249	+	Missense_Mutation	SNP	C	C	T	rs371438755		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:74703249C>T	ENST00000261918.4	-	14	2265	c.1717G>A	c.(1717-1719)Gcc>Acc	p.A573T	SEMA7A_ENST00000543145.2_Missense_Mutation_p.A559T|SEMA7A_ENST00000542748.1_Missense_Mutation_p.A408T	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	573	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GAGTAGGTGGCGTGGCGGGAT	0.617																																																	0			15						C	THR/ALA,THR/ALA,THR/ALA	0,4394		0,0,2197	104.0	104.0	104.0		1675,1222,1717	4.6	1.0	15		104	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense,missense	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	58,58,58	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	559/653,408/502,573/667	74703249	1,12985	2197	4296	6493	72490302	SO:0001583	missense	8482			AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1717G>A	15.37:g.74703249C>T	ENSP00000261918:p.Ala573Thr		72490302	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682258	0.88542	0.0	1.16E-4	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.12465	2.68;2.68;2.68	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133831	0.50627	D	0.000120	T	0.33847	0.0877	L	0.59436	1.845	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.08166	-1.0735	10	0.87932	D	0	-23.8916	15.1022	0.72288	0.0:1.0:0.0:0.0	.	559;573	F5H1S0;O75326	.;SEM7A_HUMAN	T	573;559;408	ENSP00000261918:A573T;ENSP00000438966:A559T;ENSP00000441493:A408T	ENSP00000261918:A573T	A	-	1	0	SEMA7A	72490302	0.998000	0.40836	0.996000	0.52242	0.997000	0.91878	4.873000	0.63057	2.094000	0.63399	0.555000	0.69702	GCC		0.617	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	
ARID3B	10620	hgsc.bcm.edu	37	15	74836313	74836313	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:74836313G>A	ENST00000346246.5	+	2	267	c.36G>A	c.(34-36)caG>caA	p.Q12Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	12	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						agcagcagcagcaacaacaga	0.567																																																	0			15											17.0	21.0	20.0					15																	74836313		2194	4294	6488	72623366	SO:0001819	synonymous_variant	10620				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.36G>A	15.37:g.74836313G>A			72623366	O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	CCDS10264.1																																																																																				0.567	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465	
LMAN1L	79748	hgsc.bcm.edu	37	15	75116785	75116785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:75116785C>T	ENST00000309664.5	+	13	1556	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank|LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.Q461*	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	473						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Q473E(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCCTCATTCAGACTGTAGG	0.597																																																	1	Substitution - Missense(1)	urinary_tract(1)	15											120.0	117.0	118.0					15																	75116785		2197	4295	6492	72903838	SO:0001587	stop_gained	79748			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1417C>T	15.37:g.75116785C>T	ENSP00000310431:p.Gln473*		72903838	Q6UWN2	Nonsense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716539	0.89205	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	.	.	.	4.88	4.88	0.63580	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8981	0.63785	0.0:1.0:0.0:0.0	.	.	.	.	X	473;461	.	ENSP00000310431:Q473X	Q	+	1	0	LMAN1L	72903838	0.985000	0.35326	0.897000	0.35233	0.504000	0.33889	3.409000	0.52657	2.429000	0.82318	0.561000	0.74099	CAG		0.597	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		
TSPAN3	10099	hgsc.bcm.edu	37	15	77339191	77339191	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:77339191C>T	ENST00000267970.4	-	7	1021	c.748G>A	c.(748-750)Gga>Aga	p.G250R	TSPAN3_ENST00000561277.1_Missense_Mutation_p.G42R|TSPAN3_ENST00000559494.1_Missense_Mutation_p.G161R|TSPAN3_ENST00000558745.1_Missense_Mutation_p.G42R|TSPAN3_ENST00000346495.2_Missense_Mutation_p.G225R|TSPAN3_ENST00000424443.3_Missense_Mutation_p.G186R|RP11-797A18.3_ENST00000560446.1_lincRNA	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	250						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GCATAGGTTCCGCCAGTGATG	0.488																																																	0			15											77.0	59.0	65.0					15																	77339191		2196	4294	6490	75126246	SO:0001583	missense	10099				CCDS10292.1, CCDS10293.1, CCDS53963.1	15q23	2013-02-14	2005-03-21	2005-03-21	ENSG00000140391	ENSG00000140391		"""Tetraspanins"""	17752	protein-coding gene	gene with protein product		613134	"""transmembrane 4 superfamily member 8"""	TM4SF8			Standard	NM_005724		Approved	TM4-A, TSPAN-3	uc002bcj.3	O60637	OTTHUMG00000143728	ENST00000267970.4:c.748G>A	15.37:g.77339191C>T	ENSP00000267970:p.Gly250Arg		75126246	A6NEH4|B3KQQ2|B4DP19|Q9BW22|Q9NVX9	Missense_Mutation	SNP	ENST00000267970.4	37	CCDS10292.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721184	0.89205	.	.	ENSG00000140391	ENST00000267970;ENST00000424443;ENST00000423920;ENST00000346495	T;T;T	0.53857	1.0;0.6;0.91	5.94	5.94	0.96194	.	0.102569	0.64402	D	0.000004	T	0.53384	0.1793	L	0.56769	1.78	0.58432	D	0.999999	B;B;B;P	0.48998	0.08;0.05;0.002;0.918	B;B;B;B	0.39876	0.013;0.005;0.002;0.312	T	0.58725	-0.7586	10	0.56958	D	0.05	.	20.3594	0.98849	0.0:1.0:0.0:0.0	.	186;212;225;250	B4DP19;B4DEK8;A6NEH4;O60637	.;.;.;TSN3_HUMAN	R	250;186;213;225	ENSP00000267970:G250R;ENSP00000407243:G186R;ENSP00000341329:G225R	ENSP00000267970:G250R	G	-	1	0	TSPAN3	75126246	0.999000	0.42202	0.289000	0.24876	0.749000	0.42624	4.750000	0.62162	2.816000	0.96949	0.563000	0.77884	GGA		0.488	TSPAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289792.3	NM_005724	
EFTUD1	79631	hgsc.bcm.edu	37	15	82422829	82422829	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:82422829G>T	ENST00000268206.7	-	20	3416	c.3248C>A	c.(3247-3249)tCt>tAt	p.S1083Y	EFTUD1_ENST00000359445.3_Missense_Mutation_p.S1032Y	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	1083					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTGGTTCTCAGAGTCAGCCTT	0.488																																																	0			15											144.0	136.0	139.0					15																	82422829		1948	4153	6101	80209884	SO:0001583	missense	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.3248C>A	15.37:g.82422829G>T	ENSP00000268206:p.Ser1083Tyr		80209884	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082741	0.76528	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.66460	-0.21;0.05	5.07	4.14	0.48551	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (1);	0.000000	0.39615	N	0.001314	T	0.76492	0.3995	L	0.47190	1.495	0.80722	D	1	D;P	0.76494	0.999;0.93	D;P	0.77557	0.99;0.496	T	0.78031	-0.2363	10	0.52906	T	0.07	-23.267	15.9112	0.79475	0.0:0.1355:0.8645:0.0	.	1032;1083	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	Y	1083;1032	ENSP00000268206:S1083Y;ENSP00000352418:S1032Y	ENSP00000268206:S1083Y	S	-	2	0	EFTUD1	80209884	1.000000	0.71417	0.056000	0.19401	0.922000	0.55478	9.556000	0.98127	1.253000	0.44018	-0.165000	0.13383	TCT		0.488	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580	
SH3GL3	6457	hgsc.bcm.edu	37	15	84241320	84241320	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:84241320A>G	ENST00000427482.2	+	5	641	c.335A>G	c.(334-336)aAt>aGt	p.N112S	SH3GL3_ENST00000535412.1_Missense_Mutation_p.N112S|SH3GL3_ENST00000434347.1_Missense_Mutation_p.N120S|SH3GL3_ENST00000324537.5_Missense_Mutation_p.N120S	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	112	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ATTCAAGGCAATGCATTGATA	0.343																																																	0			15											107.0	96.0	99.0					15																	84241320		2203	4300	6503	82032324	SO:0001583	missense	6457			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.335A>G	15.37:g.84241320A>G	ENSP00000391372:p.Asn112Ser		82032324	O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	A	9.435	1.086563	0.20390	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.25	-3.71	0.04424	BAR (3);	1.168630	0.05802	N	0.612393	T	0.35364	0.0929	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.20240	-1.0281	10	0.08381	T	0.77	-25.3328	4.6069	0.12382	0.2613:0.1165:0.4961:0.1261	.	112;112;120	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	S	112;112;120;120	ENSP00000391372:N112S;ENSP00000439239:N112S;ENSP00000320092:N120S;ENSP00000397871:N120S	ENSP00000320092:N120S	N	+	2	0	SH3GL3	82032324	0.000000	0.05858	0.235000	0.24058	0.972000	0.66771	0.026000	0.13599	-0.449000	0.07117	0.477000	0.44152	AAT		0.343	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
MFGE8	4240	hgsc.bcm.edu	37	15	89448988	89448988	+	Splice_Site	SNP	C	C	A	rs148279922	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:89448988C>A	ENST00000566497.1	-	5	746	c.685G>T	c.(685-687)Gga>Tga	p.G229*	MFGE8_ENST00000268150.8_Splice_Site_p.G229*|MFGE8_ENST00000268151.7_Splice_Site_p.G229*|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000542878.1_Splice_Site_p.G185*|MFGE8_ENST00000539437.1_Splice_Site_p.G221*			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	229					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGCACTCACCGTTCAGCTCA	0.612																																																	0			15											83.0	77.0	79.0					15																	89448988		2200	4299	6499	87249992	SO:0001630	splice_region_variant	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.685+1G>T	15.37:g.89448988C>A			87249992	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Nonsense_Mutation	SNP	ENST00000566497.1	37	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789037	0.70337	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	.	.	.	4.97	4.97	0.65823	.	0.047868	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.2886	17.8179	0.88640	0.0:1.0:0.0:0.0	.	.	.	.	X	229;229;221;185	.	.	G	-	1	0	MFGE8	87249992	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	7.465000	0.80898	2.764000	0.94973	0.555000	0.69702	GGA		0.612	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928	Nonsense_Mutation
TICRR	90381	hgsc.bcm.edu	37	15	90163022	90163022	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:90163022C>T	ENST00000268138.7	+	18	3208	c.3103C>T	c.(3103-3105)Ccg>Tcg	p.P1035S	TICRR_ENST00000560985.1_Missense_Mutation_p.P1034S|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1035					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGTGTCTCAGCCGAAGTCTCG	0.473																																																	0			15											118.0	113.0	115.0					15																	90163022		1943	4149	6092	87964026	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3103C>T	15.37:g.90163022C>T	ENSP00000268138:p.Pro1035Ser		87964026	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475750	0.44044	.	.	ENSG00000140534	ENST00000268138	T	0.11821	2.74	5.31	3.42	0.39159	.	0.255650	0.39909	N	0.001238	T	0.28995	0.0720	M	0.70275	2.135	0.80722	D	1	D	0.64830	0.994	P	0.58721	0.844	T	0.02184	-1.1199	10	0.72032	D	0.01	-6.6211	10.4375	0.44443	0.1342:0.7962:0.0:0.0696	.	1035	Q7Z2Z1	TICRR_HUMAN	S	1035	ENSP00000268138:P1035S	ENSP00000268138:P1035S	P	+	1	0	C15orf42	87964026	0.934000	0.31675	0.894000	0.35097	0.063000	0.16089	1.167000	0.31847	0.790000	0.33803	-0.182000	0.12963	CCG		0.473	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
FURIN	5045	hgsc.bcm.edu	37	15	91421496	91421496	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:91421496C>T	ENST00000268171.3	+	8	1081	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	268	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TGGGCCAGCCCGCCTCGCCGA	0.647																																																	0			15											51.0	44.0	46.0					15																	91421496		2198	4298	6496	89222500	SO:0001583	missense	5045			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.802C>T	15.37:g.91421496C>T	ENSP00000268171:p.Arg268Cys		89222500	Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934545	0.73442	.	.	ENSG00000140564	ENST00000268171	D	0.87809	-2.3	4.58	4.58	0.56647	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.128378	0.53938	D	0.000049	D	0.89853	0.6835	L	0.58810	1.83	0.58432	D	0.999998	D	0.53312	0.959	P	0.57720	0.826	D	0.90228	0.4277	10	0.59425	D	0.04	-20.2436	12.6933	0.56988	0.1646:0.8354:0.0:0.0	.	268	P09958	FURIN_HUMAN	C	268	ENSP00000268171:R268C	ENSP00000268171:R268C	R	+	1	0	FURIN	89222500	1.000000	0.71417	0.990000	0.47175	0.806000	0.45545	4.655000	0.61476	2.383000	0.81215	0.555000	0.69702	CGC		0.647	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569	
FURIN	5045	hgsc.bcm.edu	37	15	91424956	91424956	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:91424956C>T	ENST00000268171.3	+	16	2512	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W	FES_ENST00000394302.1_5'Flank|FES_ENST00000414248.2_5'Flank|FES_ENST00000328850.3_5'Flank	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	745					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTTAGTTTTCGGGGGGTGAA	0.617																																																	0			15											130.0	120.0	123.0					15																	91424956		2198	4298	6496	89225960	SO:0001583	missense	5045			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.2233C>T	15.37:g.91424956C>T	ENSP00000268171:p.Arg745Trp		89225960	Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164992	0.38217	.	.	ENSG00000140564	ENST00000268171	T	0.71579	-0.58	5.17	5.17	0.71159	.	0.404550	0.27130	N	0.020783	T	0.66025	0.2748	L	0.51422	1.61	0.38653	D	0.951881	B	0.15473	0.013	B	0.08055	0.003	T	0.67197	-0.5731	10	0.72032	D	0.01	-24.4532	14.3353	0.66584	0.0:0.8516:0.1484:0.0	.	745	P09958	FURIN_HUMAN	W	745	ENSP00000268171:R745W	ENSP00000268171:R745W	R	+	1	2	FURIN	89225960	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.061000	0.49963	2.419000	0.82065	0.555000	0.69702	CGG		0.617	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569	
FES	2242	hgsc.bcm.edu	37	15	91434219	91434219	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:91434219C>A	ENST00000328850.3	+	11	1470	c.1328C>A	c.(1327-1329)cCa>cAa	p.P443Q	FES_ENST00000394302.1_Intron|FES_ENST00000394300.3_Missense_Mutation_p.P385Q|FES_ENST00000414248.2_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Intron	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	443					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAGCTCCCTCCACCGCTGCAG	0.647																																																	0			15											25.0	26.0	26.0					15																	91434219		2194	4290	6484	89235223	SO:0001583	missense	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1328C>A	15.37:g.91434219C>A	ENSP00000331504:p.Pro443Gln		89235223	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097676	0.56075	.	.	ENSG00000182511	ENST00000328850;ENST00000394300	T;T	0.62788	-0.0;-0.0	4.42	4.42	0.53409	.	0.176879	0.50627	D	0.000120	T	0.75213	0.3819	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.988;0.972	T	0.77270	-0.2650	10	0.54805	T	0.06	-18.6661	17.2641	0.87081	0.0:1.0:0.0:0.0	.	425;385;443	B4DUD9;P07332-3;P07332	.;.;FES_HUMAN	Q	443;385	ENSP00000331504:P443Q;ENSP00000377837:P385Q	ENSP00000331504:P443Q	P	+	2	0	FES	89235223	0.992000	0.36948	0.846000	0.33378	0.338000	0.28826	5.275000	0.65575	2.299000	0.77371	0.478000	0.44815	CCA		0.647	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005	
SCML1	6322	hgsc.bcm.edu	37	X	17768146	17768146	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:17768146C>T	ENST00000380041.3	+	6	764	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	SCML1_ENST00000380043.3_Missense_Mutation_p.R119C|SCML1_ENST00000380045.3_Missense_Mutation_p.R25C|SCML1_ENST00000398080.1_Missense_Mutation_p.R25C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	146					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					AGTGTCAAGGCGTGAGAATAA	0.483																																																	0			X											106.0	96.0	99.0					X																	17768146		2203	4300	6503	17678067	SO:0001583	missense	6322				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.436C>T	X.37:g.17768146C>T	ENSP00000369380:p.Arg146Cys		17678067	B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	ENST00000380041.3	37	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781128	0.16120	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080;ENST00000419185	.	.	.	3.61	0.626	0.17670	.	1.186530	0.06384	N	0.715715	T	0.37404	0.1002	N	0.24115	0.695	0.09310	N	1	D;D	0.89917	1.0;0.999	P;P	0.59487	0.858;0.725	T	0.27088	-1.0084	9	0.37606	T	0.19	-0.4142	5.3535	0.16047	0.406:0.3983:0.1957:0.0	.	119;146	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	C	25;146;119;25;119	.	ENSP00000369380:R146C	R	+	1	0	SCML1	17678067	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.453000	0.01005	0.013000	0.14918	0.600000	0.82982	CGT		0.483	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746	
PHKA2	5256	hgsc.bcm.edu	37	X	18911701	18911701	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:18911701C>T	ENST00000379942.4	-	33	4275	c.3610G>A	c.(3610-3612)Gct>Act	p.A1204T	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1204					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCACTCGGAGCGCTGTCATAA	0.522																																																	0			X											190.0	184.0	186.0					X																	18911701		2203	4300	6503	18821622	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3610G>A	X.37:g.18911701C>T	ENSP00000369274:p.Ala1204Thr		18821622	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574124	0.86542	.	.	ENSG00000044446	ENST00000379942	D	0.95137	-3.62	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97829	0.9287	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98245	1.0490	10	0.87932	D	0	-15.9757	19.5561	0.95349	0.0:1.0:0.0:0.0	.	1204	P46019	KPB2_HUMAN	T	1204	ENSP00000369274:A1204T	ENSP00000369274:A1204T	A	-	1	0	PHKA2	18821622	1.000000	0.71417	0.680000	0.29994	0.251000	0.25915	7.400000	0.79949	2.574000	0.86865	0.600000	0.82982	GCT		0.522	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	
YY2	404281	hgsc.bcm.edu	37	X	21875100	21875100	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:21875100G>A	ENST00000429584.2	+	1	996	c.498G>A	c.(496-498)acG>acA	p.T166T	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	166					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)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GCCTGGGCACGAGGAAGTGGG	0.587																																																	0			X											78.0	78.0	78.0					X																	21875100		2203	4300	6503	21785021	SO:0001819	synonymous_variant	404281			AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.498G>A	X.37:g.21875100G>A			21785021	B2RP10|Q6Q1S4	Silent	SNP	ENST00000429584.2	37	CCDS14202.1																																																																																				0.587	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923	
DCAF8L1	139425	hgsc.bcm.edu	37	X	27998265	27998265	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:27998265A>G	ENST00000441525.1	-	1	1301	c.1187T>C	c.(1186-1188)gTt>gCt	p.V396A		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	396										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GCTGTACACAACGCAGGTGAT	0.423																																																	0			X											99.0	90.0	93.0					X																	27998265		2202	4300	6502	27908186	SO:0001583	missense	0				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1187T>C	X.37:g.27998265A>G	ENSP00000405222:p.Val396Ala		27908186	B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	6.587	0.476739	0.12521	.	.	ENSG00000226372	ENST00000441525	D	0.83506	-1.73	1.08	-0.271	0.12922	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.177207	0.36932	N	0.002336	T	0.58495	0.2126	N	0.05383	-0.06	0.18873	N	0.999986	B	0.02656	0.0	B	0.04013	0.001	T	0.41998	-0.9477	10	0.21014	T	0.42	-2.0265	4.44	0.11570	0.772:0.0:0.228:0.0	.	396	A6NGE4	DC8L1_HUMAN	A	396	ENSP00000405222:V396A	ENSP00000405222:V396A	V	-	2	0	DCAF8L1	27908186	0.998000	0.40836	0.092000	0.20876	0.150000	0.21749	3.697000	0.54764	-0.145000	0.11294	-0.816000	0.03127	GTT		0.423	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
MAGEB2	4113	hgsc.bcm.edu	37	X	30236765	30236765	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:30236765G>A	ENST00000378988.4	+	2	169	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	23										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GATGAGACCCGGGGTCTCAAT	0.567																																																	0			X											37.0	35.0	36.0					X																	30236765		2202	4300	6502	30146686	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.68G>A	X.37:g.30236765G>A	ENSP00000368273:p.Arg23Gln		30146686	O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	0.186	-1.057326	0.01965	.	.	ENSG00000099399	ENST00000378988	T	0.02974	4.09	3.43	0.959	0.19624	Melanoma associated antigen, MAGE, N-terminal (1);	0.653207	0.14428	N	0.320189	T	0.00468	0.0015	N	0.00036	-2.535	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43766	-0.9371	10	0.02654	T	1	.	3.0051	0.06026	0.5076:0.2281:0.2643:0.0	.	23	O15479	MAGB2_HUMAN	Q	23	ENSP00000368273:R23Q	ENSP00000368273:R23Q	R	+	2	0	MAGEB2	30146686	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.065000	0.11617	-0.166000	0.10890	-1.641000	0.00772	CGG		0.567	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364	
MAGEB2	4113	hgsc.bcm.edu	37	X	30237068	30237068	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:30237068A>G	ENST00000378988.4	+	2	472	c.371A>G	c.(370-372)tAc>tGc	p.Y124C		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	124	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TTCCTGTTGTACAAGTATAAA	0.453																																																	0			X											56.0	55.0	55.0					X																	30237068		2202	4300	6502	30146989	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.371A>G	X.37:g.30237068A>G	ENSP00000368273:p.Tyr124Cys		30146989	O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	1.547	-0.540170	0.04053	.	.	ENSG00000099399	ENST00000378988	T	0.04706	3.57	3.16	-6.32	0.01995	.	2.504050	0.02225	N	0.064345	T	0.04182	0.0116	L	0.38733	1.17	0.09310	N	1	B	0.17038	0.02	B	0.20577	0.03	T	0.28138	-1.0053	10	0.39692	T	0.17	.	2.3586	0.04301	0.1489:0.1177:0.3814:0.352	.	124	O15479	MAGB2_HUMAN	C	124	ENSP00000368273:Y124C	ENSP00000368273:Y124C	Y	+	2	0	MAGEB2	30146989	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.012000	0.01451	-3.386000	0.00174	-1.758000	0.00672	TAC		0.453	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364	
MAGEB4	4115	hgsc.bcm.edu	37	X	30261250	30261250	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:30261250C>T	ENST00000378982.2	+	1	1194	c.998C>T	c.(997-999)gCg>gTg	p.A333V	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	333										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						ATGACTAGTGCGTATTCCAGG	0.512																																																	0			X											53.0	44.0	47.0					X																	30261250		2202	4300	6502	30171171	SO:0001583	missense	4115				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.998C>T	X.37:g.30261250C>T	ENSP00000368266:p.Ala333Val		30171171	B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081367	0.20309	.	.	ENSG00000120289	ENST00000378982	T	0.01821	4.62	2.9	-0.177	0.13307	.	.	.	.	.	T	0.02083	0.0065	L	0.55481	1.735	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.43702	-0.9375	9	0.33940	T	0.23	.	4.6422	0.12555	0.0:0.419:0.4374:0.1436	.	333	O15481	MAGB4_HUMAN	V	333	ENSP00000368266:A333V	ENSP00000368266:A333V	A	+	2	0	MAGEB4	30171171	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.791000	0.04599	-0.138000	0.11434	0.529000	0.55759	GCG		0.512	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367	
MAGEB16	139604	hgsc.bcm.edu	37	X	35820392	35820392	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:35820392G>A	ENST00000399989.1	+	2	358	c.79G>A	c.(79-81)Gtt>Att	p.V27I	MAGEB16_ENST00000399988.1_Missense_Mutation_p.V27I|MAGEB16_ENST00000399987.1_Missense_Mutation_p.V27I|MAGEB16_ENST00000399992.1_Missense_Mutation_p.V59I|MAGEB16_ENST00000399985.1_Missense_Mutation_p.V27I	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	27										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGCCTGGAGGTTGCACAGGT	0.562																																																	0			X											42.0	43.0	43.0					X																	35820392		2048	4181	6229	35730313	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.79G>A	X.37:g.35820392G>A	ENSP00000382871:p.Val27Ile		35730313	A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.494971	0.12702	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6	3.02	0.991	0.19813	Melanoma associated antigen, MAGE, N-terminal (1);	4.960410	0.00357	N	0.000022	T	0.08582	0.0213	M	0.63843	1.955	0.09310	N	1	B	0.28208	0.203	B	0.31614	0.133	T	0.35871	-0.9771	10	0.51188	T	0.08	.	4.8663	0.13609	0.3527:0.0:0.6473:0.0	.	27	A2A368	MAGBG_HUMAN	I	27;59;27;27;27	ENSP00000382870:V27I;ENSP00000382874:V59I;ENSP00000382869:V27I;ENSP00000382871:V27I;ENSP00000382867:V27I	ENSP00000382867:V27I	V	+	1	0	MAGEB16	35730313	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.024000	0.13555	0.129000	0.18514	-0.430000	0.05897	GTT		0.562	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1		
KDM6A	7403	hgsc.bcm.edu	37	X	44929024	44929024	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:44929024A>G	ENST00000377967.4	+	17	2165	c.2124A>G	c.(2122-2124)ggA>ggG	p.G708G	KDM6A_ENST00000382899.4_Silent_p.G715G|KDM6A_ENST00000536777.1_Silent_p.G663G|KDM6A_ENST00000543216.1_Silent_p.G629G	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	708	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCTCAGGTGGACAACAAGGCA	0.502			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)	X											121.0	82.0	95.0					X																	44929024		2203	4300	6503	44813968	SO:0001819	synonymous_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2124A>G	X.37:g.44929024A>G			44813968	Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	6.864	0.528837	0.13127	.	.	ENSG00000147050	ENST00000414389;ENST00000433797	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	T	0.69833	0.3155	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69355	-0.5167	4	.	.	.	-0.7565	13.8181	0.63303	1.0:0.0:0.0:0.0	.	.	.	.	A	306;351	.	.	T	+	1	0	KDM6A	44813968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.317000	0.79018	1.707000	0.51288	0.486000	0.48141	ACA		0.502	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	
UBA1	7317	hgsc.bcm.edu	37	X	47058303	47058303	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:47058303C>A	ENST00000335972.6	+	2	285	c.102C>A	c.(100-102)ccC>ccA	p.P34P	UBA1_ENST00000377351.4_Silent_p.P34P	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	34					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						CCGAAGTGCCCTCGGTGCCAA	0.592																																																	0			X											120.0	87.0	98.0					X																	47058303		2203	4300	6503	46943247	SO:0001819	synonymous_variant	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.102C>A	X.37:g.47058303C>A			46943247	Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	CCDS14275.1																																																																																				0.592	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	
HDAC6	10013	hgsc.bcm.edu	37	X	48676708	48676708	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:48676708C>A	ENST00000334136.5	+	22	2254	c.2076C>A	c.(2074-2076)ggC>ggA	p.G692G	HDAC6_ENST00000444343.2_Silent_p.G706G|HDAC6_ENST00000376619.2_Silent_p.G692G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	692	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GCCAGATCGGCCGGGCTGCGG	0.642																																					Pancreas(112;205 1675 2305 8976 15959)												0			X											38.0	29.0	32.0					X																	48676708		2200	4299	6499	48561652	SO:0001819	synonymous_variant	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2076C>A	X.37:g.48676708C>A			48561652	O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	CCDS14306.1																																																																																				0.642	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
PPP1R3F	89801	hgsc.bcm.edu	37	X	49142836	49142836	+	Missense_Mutation	SNP	C	C	T	rs199740337		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:49142836C>T	ENST00000055335.6	+	4	1700	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.R216C|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.R233C|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.R216C|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.R216C	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	562					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCGGCTGGGGCGTGGCGTGGA	0.647																																																	0			X											23.0	21.0	22.0					X																	49142836		2203	4299	6502	49029780	SO:0001583	missense	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1684C>T	X.37:g.49142836C>T	ENSP00000055335:p.Arg562Cys		49029780	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501326	0.26861	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.56776	0.85;0.86;0.44;0.85;0.85	5.44	1.82	0.25136	.	0.493077	0.19360	N	0.116164	T	0.27063	0.0663	N	0.11560	0.145	0.32209	N	0.576735	B;B;B	0.14438	0.01;0.01;0.002	B;B;B	0.06405	0.002;0.002;0.001	T	0.10894	-1.0610	10	0.40728	T	0.16	0.5726	3.6526	0.08209	0.1775:0.5452:0.0:0.2773	.	233;247;562	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	C	216;233;562;216;216	ENSP00000420687:R216C;ENSP00000415548:R233C;ENSP00000055335:R562C;ENSP00000417535:R216C;ENSP00000365359:R216C	ENSP00000055335:R562C	R	+	1	0	PPP1R3F	49029780	0.968000	0.33430	0.973000	0.42090	0.871000	0.50021	0.531000	0.23052	-0.077000	0.12752	0.513000	0.50165	CGT		0.647	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	
CLCN5	1184	hgsc.bcm.edu	37	X	49851179	49851179	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:49851179A>G	ENST00000307367.2	+	8	1290	c.999A>G	c.(997-999)ggA>ggG	p.G333G	CLCN5_ENST00000376108.3_Silent_p.G333G|CLCN5_ENST00000376091.3_Silent_p.G403G|CLCN5_ENST00000376088.3_Silent_p.G403G			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	333					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTCTGTGGGGAGCACTGTTTA	0.507																																																	0			X											103.0	79.0	87.0					X																	49851179		2203	4300	6503	49737919	SO:0001819	synonymous_variant	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.999A>G	X.37:g.49851179A>G			49737919	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	CCDS14328.1																																																																																				0.507	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		
APEX2	27301	hgsc.bcm.edu	37	X	55029489	55029489	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:55029489C>T	ENST00000374987.3	+	4	583	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	173					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CTTTAAGATGCGCTTCTATCG	0.577								Other BER factors																																									0			X											71.0	57.0	62.0					X																	55029489		2203	4300	6503	55046214	SO:0001583	missense	27301			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.517C>T	X.37:g.55029489C>T	ENSP00000364126:p.Arg173Cys		55046214	Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.261477	0.80358	.	.	ENSG00000169188	ENST00000374987	T	0.80393	-1.37	5.15	3.33	0.38152	Endonuclease/exonuclease/phosphatase (2);	0.288543	0.40640	N	0.001056	T	0.79076	0.4385	M	0.84773	2.715	0.51767	D	0.999938	B	0.34372	0.451	B	0.29716	0.106	T	0.76119	-0.3076	10	0.62326	D	0.03	-7.9571	8.4913	0.33102	0.1531:0.762:0.0:0.0849	.	173	Q9UBZ4	APEX2_HUMAN	C	173	ENSP00000364126:R173C	ENSP00000364126:R173C	R	+	1	0	APEX2	55046214	1.000000	0.71417	0.985000	0.45067	0.953000	0.61014	2.882000	0.48546	0.470000	0.27294	0.597000	0.82753	CGC		0.577	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1		
LAS1L	81887	hgsc.bcm.edu	37	X	64744047	64744047	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:64744047C>T	ENST00000374811.3	-	10	1229	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	LAS1L_ENST00000374804.5_Missense_Mutation_p.A338T|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.A380T	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	397					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCCAATAGGGCCTGCGTGAAG	0.577																																																	0			X											48.0	40.0	43.0					X																	64744047		2203	4300	6503	64660772	SO:0001583	missense	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1189G>A	X.37:g.64744047C>T	ENSP00000363944:p.Ala397Thr		64660772	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	9.825	1.186880	0.21870	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.55	3.68	0.42216	.	0.441226	0.24645	N	0.036761	T	0.50309	0.1608	L	0.40543	1.245	0.80722	D	1	B;B;D	0.58620	0.419;0.019;0.983	B;B;P	0.53401	0.118;0.019;0.725	T	0.35325	-0.9793	9	0.21540	T	0.41	.	9.2758	0.37698	0.2153:0.7847:0.0:0.0	.	338;380;397	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	T	380;397;338	.	ENSP00000363937:A338T	A	-	1	0	LAS1L	64660772	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	1.166000	0.31834	0.726000	0.32339	0.287000	0.19450	GCC		0.577	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206	
AR	367	hgsc.bcm.edu	37	X	66765032	66765032	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:66765032C>T	ENST00000374690.3	+	1	568	c.44C>T	c.(43-45)cCg>cTg	p.P15L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.P15L|AR_ENST00000504326.1_Missense_Mutation_p.P15L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	15	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P15Q(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CCTCGGCCGCCGTCCAAGACC	0.617									Androgen Insensitivity Syndrome																																								1	Substitution - Missense(1)	lung(1)	X											62.0	48.0	52.0					X																	66765032		2203	4300	6503	66681757	SO:0001583	missense	374	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.44C>T	X.37:g.66765032C>T	ENSP00000363822:p.Pro15Leu		66681757	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	18.07	3.542759	0.65198	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.96136	-3.92;-3.92;-3.92	5.34	4.45	0.53987	.	0.151076	0.45606	D	0.000351	D	0.92463	0.7607	N	0.24115	0.695	0.44241	D	0.997087	D;D	0.58970	0.973;0.984	P;P	0.49597	0.616;0.616	D	0.92118	0.5701	10	0.72032	D	0.01	.	10.1568	0.42827	0.2116:0.7884:0.0:0.0	.	15;15	E7EVX6;D3YPQ2	.;.	L	15	ENSP00000363822:P15L;ENSP00000421155:P15L;ENSP00000379359:P15L	ENSP00000363822:P15L	P	+	2	0	AR	66681757	0.107000	0.21998	0.915000	0.36163	0.966000	0.64601	0.861000	0.27885	1.148000	0.42385	0.597000	0.82753	CCG		0.617	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
NHSL2	340527	hgsc.bcm.edu	37	X	71358928	71358928	+	Silent	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:71358928G>T	ENST00000373677.1	+	2	1694	c.432G>T	c.(430-432)gtG>gtT	p.V144V	NHSL2_ENST00000540800.1_Silent_p.V510V|NHSL2_ENST00000535692.1_Silent_p.V144V|NHSL2_ENST00000510661.1_Silent_p.V279V			Q5HYW2	NHSL2_HUMAN	NHS-like 2	144										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCACAGATGTGGACTATGATG	0.597																																																	0			X											29.0	20.0	23.0					X																	71358928		2172	4211	6383	71275653	SO:0001819	synonymous_variant	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.432G>T	X.37:g.71358928G>T			71275653	B2RN94	Silent	SNP	ENST00000373677.1	37																																																																																					0.597	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
ERCC6L	54821	hgsc.bcm.edu	37	X	71427620	71427620	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:71427620C>T	ENST00000334463.3	-	2	1132	c.997G>A	c.(997-999)Gta>Ata	p.V333I	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.V210I	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	333					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTCTTCTGTACGTCTTCTTTA	0.393																																																	0			X											145.0	141.0	142.0					X																	71427620		2200	4299	6499	71344345	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.997G>A	X.37:g.71427620C>T	ENSP00000334675:p.Val333Ile		71344345	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.357973	0.24598	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.94457	-3.43;-3.43	5.79	4.92	0.64577	SNF2-related (1);	.	.	.	.	D	0.92182	0.7521	M	0.67953	2.075	0.47778	D	0.999515	B	0.30824	0.296	B	0.23852	0.049	D	0.89471	0.3743	9	0.34782	T	0.22	-7.5099	12.912	0.58184	0.1633:0.8367:0.0:0.0	.	333	Q2NKX8	ERC6L_HUMAN	I	210;333	ENSP00000362761:V210I;ENSP00000334675:V333I	ENSP00000334675:V333I	V	-	1	0	ERCC6L	71344345	0.953000	0.32496	1.000000	0.80357	0.779000	0.44077	2.095000	0.41729	1.190000	0.43042	-0.237000	0.12165	GTA		0.393	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
GLA	2717	hgsc.bcm.edu	37	X	100656741	100656741	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:100656741G>A	ENST00000218516.3	-	3	447	c.426C>T	c.(424-426)tgC>tgT	p.C142C	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	142			C -> R (in FD). {ECO:0000269|PubMed:10666480}.|C -> Y (in FD). {ECO:0000269|PubMed:7759078, ECO:0000269|PubMed:9105656}.		glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGAAGCCTGCGCAGGTTTTAT	0.448																																					Colon(193;776 2816 31189 44474)												0			X	GRCh37	CM051522|CM993654	GLA	M							144.0	133.0	137.0					X																	100656741		2203	4300	6503	100543397	SO:0001819	synonymous_variant	9027			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.426C>T	X.37:g.100656741G>A			100543397	Q6LER7	Silent	SNP	ENST00000218516.3	37	CCDS14484.1																																																																																				0.448	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1		
NXF3	56000	hgsc.bcm.edu	37	X	102337991	102337991	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:102337991T>C	ENST00000395065.3	-	7	733	c.632A>G	c.(631-633)aAc>aGc	p.N211S	NXF3_ENST00000425463.2_Missense_Mutation_p.N122S|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	211					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ACACTGTTGGTTCATGGCCAG	0.502																																																	0			X											194.0	186.0	189.0					X																	102337991		2203	4300	6503	102224647	SO:0001583	missense	56000			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.632A>G	X.37:g.102337991T>C	ENSP00000378504:p.Asn211Ser		102224647	B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	T	2.552	-0.303915	0.05495	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.55588	0.51;0.51	3.64	3.64	0.41730	.	0.770328	0.12805	N	0.437710	T	0.24890	0.0604	N	0.13003	0.285	0.09310	N	1	P;P;B	0.41188	0.741;0.73;0.057	B;B;B	0.32533	0.147;0.135;0.034	T	0.12630	-1.0540	10	0.02654	T	1	0.0309	7.8687	0.29552	0.0:0.0:0.0:1.0	.	211;107;211	B4DYI1;E9PEY7;Q9H4D5	.;.;NXF3_HUMAN	S	211;122	ENSP00000378504:N211S;ENSP00000404347:N122S	ENSP00000378504:N211S	N	-	2	0	NXF3	102224647	0.050000	0.20438	0.002000	0.10522	0.004000	0.04260	0.411000	0.21115	1.672000	0.50884	0.486000	0.48141	AAC		0.502	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052	
CXorf57	55086	hgsc.bcm.edu	37	X	105855767	105855767	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:105855767G>A	ENST00000372548.4	+	1	566	c.457G>A	c.(457-459)Gtc>Atc	p.V153I	CXorf57_ENST00000372544.2_Missense_Mutation_p.V153I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	153							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CATAGATAACGTCCACTGTGG	0.438																																																	0			X											108.0	115.0	113.0					X																	105855767		2203	4300	6503	105742423	SO:0001583	missense	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.457G>A	X.37:g.105855767G>A	ENSP00000361628:p.Val153Ile		105742423	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	8.071	0.770216	0.15983	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.47177	0.86;0.85	4.0	-0.269	0.12930	Nucleic acid-binding, OB-fold-like (1);	0.606472	0.15830	N	0.242559	T	0.29256	0.0728	L	0.46157	1.445	0.24101	N	0.99587	B;B;B	0.34181	0.354;0.354;0.44	B;B;B	0.23275	0.045;0.045;0.025	T	0.10314	-1.0635	10	0.25106	T	0.35	-1.9872	5.1869	0.15189	0.2321:0.463:0.3049:0.0	.	153;153;153	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	I	153	ENSP00000361623:V153I;ENSP00000361628:V153I	ENSP00000361623:V153I	V	+	1	0	CXorf57	105742423	0.008000	0.16893	0.394000	0.26270	0.957000	0.61999	-0.149000	0.10204	0.000000	0.14550	0.600000	0.82982	GTC		0.438	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
RBMXL3	139804	hgsc.bcm.edu	37	X	114425355	114425355	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:114425355G>A	ENST00000424776.3	+	1	1393	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	451	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						GTCCGACGACGCCTACAGTGG	0.672																																																	0			X											33.0	32.0	32.0					X																	114425355		692	1591	2283	114331611	SO:0001583	missense	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1351G>A	X.37:g.114425355G>A	ENSP00000417451:p.Ala451Thr		114331611	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	37	CCDS55478.1	.	.	.	.	.	.	.	.	.	.	G	4.613	0.113935	0.08831	.	.	ENSG00000175718	ENST00000424776	T	0.05447	3.44	0.862	-1.72	0.08107	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.14023	0.01	T	0.39761	-0.9598	9	0.87932	D	0	.	4.0621	0.09843	0.3346:0.0:0.6654:0.0	.	451	Q8N7X1	RMXL3_HUMAN	T	451	ENSP00000417451:A451T	ENSP00000417451:A451T	A	+	1	0	RBMXL3	114331611	0.046000	0.20272	0.010000	0.14722	0.010000	0.07245	0.299000	0.19138	-1.475000	0.01876	-1.482000	0.00985	GCC		0.672	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
KIAA1210	57481	hgsc.bcm.edu	37	X	118220567	118220567	+	Silent	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:118220567T>C	ENST00000402510.2	-	11	4625	c.4626A>G	c.(4624-4626)caA>caG	p.Q1542Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1542										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCTGCTCTGTTGCTTATCTG	0.498																																																	0			X											94.0	86.0	89.0					X																	118220567		1920	4107	6027	118104595	SO:0001819	synonymous_variant	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4626A>G	X.37:g.118220567T>C			118104595	B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	T	5.685	0.311039	0.10733	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.95	1.04	0.20106	.	.	.	.	.	T	0.23133	0.0559	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	2.9139	0.05746	0.1873:0.2314:0.0:0.5813	.	.	.	.	A	949	.	.	T	-	1	0	KIAA1210	118104595	0.000000	0.05858	0.001000	0.08648	0.298000	0.27526	0.103000	0.15292	-0.022000	0.13986	0.412000	0.27726	ACA		0.498	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
SLC25A5	292	hgsc.bcm.edu	37	X	118603756	118603756	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:118603756T>A	ENST00000317881.8	+	2	360	c.244T>A	c.(244-246)Ttc>Atc	p.F82I	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	82					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CATCAGATACTTCCCCACCCA	0.493																																																	0			X											122.0	118.0	120.0					X																	118603756		2203	4300	6503	118487784	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.244T>A	X.37:g.118603756T>A	ENSP00000360671:p.Phe82Ile		118487784	B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146439	0.77888	.	.	ENSG00000005022	ENST00000317881	T	0.78003	-1.14	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.83483	2.645	0.80722	D	1	P	0.47302	0.893	P	0.46718	0.525	D	0.84987	0.0892	10	0.87932	D	0	.	12.1849	0.54231	0.0:0.0:0.0:1.0	.	82	P05141	ADT2_HUMAN	I	82	ENSP00000360671:F82I	ENSP00000360671:F82I	F	+	1	0	SLC25A5	118487784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.562000	0.82300	1.622000	0.50330	0.430000	0.28490	TTC		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152	
MAGEA1	4100	hgsc.bcm.edu	37	X	152482569	152482569	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:152482569A>G	ENST00000356661.5	-	3	660	c.442T>C	c.(442-444)Tct>Cct	p.S148P		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	148	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGACTCAGAGGCTTTGCCG	0.512																																																	0			X											134.0	129.0	131.0					X																	152482569		2203	4300	6503	152135763	SO:0001583	missense	4100				CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.442T>C	X.37:g.152482569A>G	ENSP00000349085:p.Ser148Pro		152135763	B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.777632	0.31502	.	.	ENSG00000198681	ENST00000356661	T	0.05717	3.4	1.28	1.28	0.21552	.	1.473130	0.03614	N	0.235249	T	0.15696	0.0378	M	0.89534	3.04	0.09310	N	1	P	0.34522	0.455	B	0.36922	0.236	T	0.37526	-0.9702	10	0.87932	D	0	.	4.336	0.11087	1.0:0.0:0.0:0.0	.	148	P43355	MAGA1_HUMAN	P	148	ENSP00000349085:S148P	ENSP00000349085:S148P	S	-	1	0	MAGEA1	152135763	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.282000	0.18829	0.758000	0.33059	0.158000	0.16466	TCT		0.512	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988	
ZFP92	139735	hgsc.bcm.edu	37	X	152686195	152686195	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:152686195G>T	ENST00000338647.5	+	4	361	c.360G>T	c.(358-360)caG>caT	p.Q120H		NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)	6						AGGAGGGGCAGGCGGCGAGGT	0.647																																																	0			X											42.0	40.0	41.0					X																	152686195		692	1591	2283	152339389	SO:0001583	missense	139735			U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.360G>T	X.37:g.152686195G>T	ENSP00000462054:p.Gln120His		152339389		Missense_Mutation	SNP	ENST00000338647.5	37	CCDS59177.1																																																																																				0.647	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332220.2		
SLC34A2	10568	hgsc.bcm.edu	37	4	25671332	25671332	+	Silent	SNP	C	C	T	rs116552692	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:25671332C>T	ENST00000382051.3	+	7	749	c.699C>T	c.(697-699)ccC>ccT	p.P233P	SLC34A2_ENST00000504570.1_Silent_p.P232P|SLC34A2_ENST00000503434.1_Silent_p.P232P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	233					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGCTCTTGCCCGTGGAGGTGG	0.517			T	ROS1	NSCLC								C|||	17	0.00339457	0.0	0.0	5008	,	,		19720	0.0079		0.005	False		,,,				2504	0.0041							Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0			4						C	,,	1,4405	2.1+/-5.4	0,1,2202	209.0	201.0	203.0		696,696,699	-7.4	0.0	4	dbSNP_132	203	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A2	NM_001177998.1,NM_001177999.1,NM_006424.2	,,	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	,,	232/690,232/690,233/691	25671332	7,12999	2203	4300	6503	25280430	SO:0001819	synonymous_variant	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.699C>T	4.37:g.25671332C>T			25280430	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	CCDS3435.1																																																																																				0.517	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424	
ARAP2	116984	hgsc.bcm.edu	37	4	36069878	36069878	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:36069878C>A	ENST00000303965.4	-	33	5255	c.4766G>T	c.(4765-4767)aGg>aTg	p.R1589M		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1589					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAGCCGCAGCCTTTCAAGTTC	0.428																																																	0			4											57.0	61.0	60.0					4																	36069878		2203	4299	6502	35746273	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4766G>T	4.37:g.36069878C>A	ENSP00000302895:p.Arg1589Met		35746273	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763288	0.69763	.	.	ENSG00000047365	ENST00000303965	T	0.09817	2.94	6.08	2.21	0.28008	.	0.330039	0.32802	N	0.005633	T	0.12050	0.0293	L	0.29908	0.895	0.27390	N	0.955152	D	0.61697	0.99	P	0.52710	0.707	T	0.04708	-1.0932	10	0.66056	D	0.02	.	7.3603	0.26742	0.0:0.6381:0.0:0.3619	.	1589	Q8WZ64	ARAP2_HUMAN	M	1589	ENSP00000302895:R1589M	ENSP00000302895:R1589M	R	-	2	0	ARAP2	35746273	0.952000	0.32445	1.000000	0.80357	0.966000	0.64601	0.351000	0.20096	0.796000	0.33947	0.655000	0.94253	AGG		0.428	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
N4BP2	55728	hgsc.bcm.edu	37	4	40104571	40104571	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:40104571C>T	ENST00000261435.6	+	4	1522	c.1106C>T	c.(1105-1107)gCt>gTt	p.A369V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	369					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATGATTCCTGCTTTTGACCTC	0.502																																																	0			4											138.0	129.0	132.0					4																	40104571		2203	4300	6503	39780966	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1106C>T	4.37:g.40104571C>T	ENSP00000261435:p.Ala369Val		39780966	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016459	0.35606	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.20069	2.1	6.07	5.24	0.73138	.	0.458810	0.21585	N	0.072181	T	0.16214	0.0390	L	0.29908	0.895	0.32926	D	0.516518	B;B	0.29590	0.25;0.162	B;B	0.24848	0.056;0.025	T	0.14448	-1.0472	10	0.36615	T	0.2	-4.057	12.9956	0.58644	0.0:0.8674:0.0:0.1326	.	369;369	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	V	369;289	ENSP00000261435:A369V	ENSP00000261435:A369V	A	+	2	0	N4BP2	39780966	0.110000	0.22057	1.000000	0.80357	0.160000	0.22226	0.984000	0.29565	1.582000	0.49881	0.655000	0.94253	GCT		0.502	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177	
RBM47	54502	hgsc.bcm.edu	37	4	40440535	40440535	+	Missense_Mutation	SNP	G	G	A	rs201192048		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:40440535G>A	ENST00000381793.2	-	3	772	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	RBM47_ENST00000381795.6_Missense_Mutation_p.R126C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R126C|RBM47_ENST00000514014.1_Missense_Mutation_p.R88C|RBM47_ENST00000319592.4_Missense_Mutation_p.R126C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	126	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCACTGCGCGCTTGGCCTCG	0.652																																																	0			4						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	62.0	52.0	55.0		376,376	4.7	1.0	4		55	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RBM47	NM_001098634.1,NM_019027.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	126/594,126/525	40440535	1,13005	2203	4300	6503	40135292	SO:0001583	missense	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.376C>T	4.37:g.40440535G>A	ENSP00000371212:p.Arg126Cys		40135292	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368869	0.61624	0.0	1.16E-4	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.58	4.73	0.59995	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.053221	0.85682	D	0.000000	T	0.36110	0.0955	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.995	P;P	0.60682	0.878;0.849	T	0.08994	-1.0695	10	0.72032	D	0.01	-19.002	11.1459	0.48430	0.0686:0.0:0.8053:0.1262	.	126;126	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	126;126;126;126;88;126;126;126;126	ENSP00000320108:R126C;ENSP00000371212:R126C;ENSP00000371214:R126C;ENSP00000295971:R126C;ENSP00000423243:R88C;ENSP00000422564:R126C;ENSP00000421589:R126C;ENSP00000423527:R126C;ENSP00000426542:R126C	ENSP00000295971:R126C	R	-	1	0	RBM47	40135292	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.045000	0.49838	2.635000	0.89317	0.313000	0.20887	CGC		0.652	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
APBB2	323	hgsc.bcm.edu	37	4	40947013	40947013	+	Missense_Mutation	SNP	C	C	A	rs373320430		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:40947013C>A	ENST00000295974.8	-	7	1539	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	APBB2_ENST00000513140.1_Missense_Mutation_p.G304W|APBB2_ENST00000506352.1_Missense_Mutation_p.G304W|APBB2_ENST00000508593.1_Missense_Mutation_p.G305W	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	304	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TAATAGGTCCCGGCAATGTCA	0.527																																					Ovarian(3;20 75 16686 49997)												0			4											93.0	97.0	95.0					4																	40947013		1966	4163	6129	40641770	SO:0001583	missense	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.910G>T	4.37:g.40947013C>A	ENSP00000295974:p.Gly304Trp		40641770	B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.404571|4.404571	0.83230|0.83230	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352|ENST00000513611	D;D;D;D|.	0.94931|.	-3.56;-3.56;-3.56;-3.56|.	5.82|5.82	5.82|5.82	0.92795|0.92795	WW/Rsp5/WWP (6);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78052|0.78052	0.4223|0.4223	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.991;0.996;0.991|.	T|T	0.76219|0.76219	-0.3039|-0.3039	10|5	0.87932|.	D|.	0|.	-11.9713|-11.9713	20.0853|20.0853	0.97797|0.97797	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	287;305;304;304|.	B4DJ88;E9PG87;Q92870-2;Q92870|.	.;.;.;APBB2_HUMAN|.	W|L	304;303;304;305;304|294	ENSP00000295974:G304W;ENSP00000426018:G304W;ENSP00000427211:G305W;ENSP00000421539:G304W|.	ENSP00000295974:G304W|.	G|R	-|-	1|2	0|0	APBB2|APBB2	40641770|40641770	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.774000|0.774000	0.43823|0.43823	7.421000|7.421000	0.80204|0.80204	2.761000|2.761000	0.94854|0.94854	0.591000|0.591000	0.81541|0.81541	GGG|CGG		0.527	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075	
USP46	64854	hgsc.bcm.edu	37	4	53468064	53468064	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:53468064G>A	ENST00000441222.3	-	7	1063	c.879C>T	c.(877-879)gaC>gaT	p.D293D	USP46_ENST00000451218.2_Silent_p.D266D|USP46_ENST00000508499.1_Silent_p.D286D	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	293	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CATACATGCGGTCCAGGTTCA	0.537																																																	0			4											111.0	108.0	109.0					4																	53468064		2084	4216	6300	53162821	SO:0001819	synonymous_variant	64854			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.879C>T	4.37:g.53468064G>A			53162821	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Silent	SNP	ENST00000441222.3	37	CCDS47053.1																																																																																				0.537	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832	
KIT	3815	hgsc.bcm.edu	37	4	55594177	55594177	+	Splice_Site	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:55594177C>T	ENST00000288135.5	+	13	1977	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	627	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P627L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAATTTTAGCGAGTGCCCAT	0.433		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	1	Substitution - Missense(1)	soft_tissue(1)	4											145.0	134.0	137.0					4																	55594177		2203	4300	6503	55288934	SO:0001630	splice_region_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1880-1C>T	4.37:g.55594177C>T			55288934	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903525	0.72754	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82711	-1.64;-1.64	6.06	5.22	0.72569	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	D	0.82314	0.5010	N	0.13327	0.33	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	P;P;D	0.66084	0.818;0.898;0.941	T	0.81947	-0.0700	9	.	.	.	.	15.2169	0.73274	0.0:0.933:0.0:0.067	.	134;623;627	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	L	627;623	ENSP00000288135:P627L;ENSP00000390987:P623L	.	P	+	2	0	KIT	55288934	1.000000	0.71417	0.997000	0.53966	0.170000	0.22686	7.743000	0.85020	1.576000	0.49790	0.655000	0.94253	CCG		0.433	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		Missense_Mutation
KIAA1211	57482	hgsc.bcm.edu	37	4	57181417	57181417	+	Silent	SNP	C	C	T	rs534115460	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:57181417C>T	ENST00000504228.1	+	6	1854	c.1749C>T	c.(1747-1749)caC>caT	p.H583H	KIAA1211_ENST00000264229.6_Silent_p.H583H|KIAA1211_ENST00000541073.1_Silent_p.H576H			Q6ZU35	K1211_HUMAN	KIAA1211	583										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGTCCAGCACGCCCTACCGT	0.662													C|||	3	0.000599042	0.0	0.0	5008	,	,		13945	0.0		0.0	False		,,,				2504	0.0031																0			4											17.0	24.0	22.0					4																	57181417		2025	4168	6193	56876174	SO:0001819	synonymous_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1749C>T	4.37:g.57181417C>T			56876174	Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	CCDS43230.1																																																																																				0.662	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
AMTN	401138	hgsc.bcm.edu	37	4	71388495	71388495	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:71388495C>T	ENST00000339336.4	+	3	208	c.78C>T	c.(76-78)ctC>ctT	p.L26L	AMTN_ENST00000504451.1_Silent_p.L25L	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	26					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CTTTGGGACTCCCTCCCACAA	0.423																																																	0			4											203.0	210.0	208.0					4																	71388495		2203	4300	6503	71423084	SO:0001819	synonymous_variant	401138			AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.78C>T	4.37:g.71388495C>T			71423084	Q0P503|Q0P506	Silent	SNP	ENST00000339336.4	37	CCDS3542.1																																																																																				0.423	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557	
ANKRD17	26057	hgsc.bcm.edu	37	4	73956582	73956582	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:73956582T>C	ENST00000358602.4	-	29	6879	c.6763A>G	c.(6763-6765)Agc>Ggc	p.S2255G	ANKRD17_ENST00000330838.6_Missense_Mutation_p.S2004G|ANKRD17_ENST00000509867.2_Missense_Mutation_p.S2142G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2255					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACAATGTGCTAAAGGGCCCA	0.438																																																	0			4											218.0	224.0	222.0					4																	73956582		2203	4300	6503	74175446	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6763A>G	4.37:g.73956582T>C	ENSP00000351416:p.Ser2255Gly		74175446	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261927	0.39995	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.80824	-1.42;-1.41;-0.75	5.65	5.65	0.86999	.	0.150425	0.45361	D	0.000374	T	0.78717	0.4327	L	0.57536	1.79	0.32208	N	0.57695	B;B;B;B	0.31817	0.341;0.341;0.231;0.231	B;B;B;B	0.30495	0.116;0.116;0.054;0.037	D	0.83740	0.0203	10	0.87932	D	0	.	15.8715	0.79122	0.0:0.0:0.0:1.0	.	2254;2004;2255;2142	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	G	2255;1662;2004;2142;639	ENSP00000351416:S2255G;ENSP00000332265:S2004G;ENSP00000427151:S2142G	ENSP00000332265:S2004G	S	-	1	0	ANKRD17	74175446	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.926000	0.70070	2.155000	0.67459	0.533000	0.62120	AGC		0.438	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
NUP54	53371	hgsc.bcm.edu	37	4	77051838	77051838	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:77051838T>C	ENST00000264883.3	-	8	1167	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V	NUP54_ENST00000458189.2_Missense_Mutation_p.M163V|NUP54_ENST00000342467.6_Missense_Mutation_p.M163V|NUP54_ENST00000514987.1_Missense_Mutation_p.M295V	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	343	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TGCTTAGTCATCTGATCTTGA	0.383																																																	0			4											95.0	76.0	83.0					4																	77051838		2203	4300	6503	77270862	SO:0001583	missense	53371			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1027A>G	4.37:g.77051838T>C	ENSP00000264883:p.Met343Val		77270862	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.482885	0.63962	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	L	0.38175	1.15	0.58432	D	0.999996	P;P;B	0.43662	0.719;0.814;0.386	B;P;B	0.45195	0.244;0.473;0.308	T	0.45745	-0.9240	9	0.16420	T	0.52	-17.6058	15.713	0.77646	0.0:0.0:0.0:1.0	.	295;163;343	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	V	343;163;295;163	.	ENSP00000264883:M343V	M	-	1	0	NUP54	77270862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.610000	0.82949	2.114000	0.64651	0.460000	0.39030	ATG		0.383	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3		
ANTXR2	118429	hgsc.bcm.edu	37	4	80899192	80899192	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:80899192G>T	ENST00000307333.7	-	15	1318	c.1316C>A	c.(1315-1317)cCt>cAt	p.P439H	ANTXR2_ENST00000346652.6_Missense_Mutation_p.P336H|ANTXR2_ENST00000403729.2_Missense_Mutation_p.P439H|ANTXR2_ENST00000404191.1_Missense_Mutation_p.P362H	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	439					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TGTCTGAGGAGGCTGGTGTGT	0.438									Juvenile Hyaline Fibromatosis																																								0			4											272.0	263.0	266.0					4																	80899192		1909	4126	6035	81118216	SO:0001583	missense	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1316C>A	4.37:g.80899192G>T	ENSP00000306185:p.Pro439His		81118216	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222513	0.39300	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000346652;ENST00000307333	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.78	5.78	0.91487	Anthrax toxin receptor, C-terminal (2);	0.478792	0.24098	N	0.041563	T	0.76765	0.4033	L	0.32530	0.975	0.80722	D	1	P;P;P	0.48764	0.904;0.915;0.895	B;P;P	0.52424	0.439;0.663;0.698	T	0.77940	-0.2399	10	0.62326	D	0.03	-5.4066	12.3215	0.54987	0.0768:0.0:0.9232:0.0	.	336;439;439	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	H	439;362;336;439	ENSP00000385575:P439H;ENSP00000384028:P362H;ENSP00000314883:P336H;ENSP00000306185:P439H	ENSP00000306185:P439H	P	-	2	0	ANTXR2	81118216	0.799000	0.28903	0.951000	0.38953	0.016000	0.09150	2.020000	0.41010	2.737000	0.93849	0.585000	0.79938	CCT		0.438	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172	
LIN54	132660	hgsc.bcm.edu	37	4	83905824	83905824	+	Silent	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:83905824G>T	ENST00000340417.3	-	2	551	c.174C>A	c.(172-174)gcC>gcA	p.A58A	LIN54_ENST00000506560.1_Silent_p.A58A|LIN54_ENST00000395283.2_Silent_p.A58A|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Silent_p.A58A|LIN54_ENST00000395282.2_Silent_p.A58A	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	58					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AAATGGGCGTGGCTGTAGAGT	0.408																																																	0			4											242.0	228.0	233.0					4																	83905824		2203	4300	6503	84124848	SO:0001819	synonymous_variant	132660			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.174C>A	4.37:g.83905824G>T			84124848	Q32M68|Q32M69|Q6N071|Q76B60	Silent	SNP	ENST00000340417.3	37	CCDS3599.1																																																																																				0.408	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282	
CYP2U1	113612	hgsc.bcm.edu	37	4	108853210	108853210	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:108853210C>T	ENST00000332884.6	+	1	686	c.411C>T	c.(409-411)cgC>cgT	p.R137R	CYP2U1_ENST00000508453.1_5'UTR|CYP2U1_ENST00000513302.1_3'UTR|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	137					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ACAGCGTGCGCGAGGCGCTGG	0.652																																																	0			4											12.0	12.0	12.0					4																	108853210		2194	4294	6488	109072659	SO:0001819	synonymous_variant	113612			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.411C>T	4.37:g.108853210C>T			109072659	B2RMV7|Q96EQ6	Silent	SNP	ENST00000332884.6	37	CCDS34047.1																																																																																				0.652	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075	
EGF	1950	hgsc.bcm.edu	37	4	110882121	110882121	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:110882121C>T	ENST00000265171.5	+	7	1610	c.1165C>T	c.(1165-1167)Ctt>Ttt	p.L389F	EGF_ENST00000503392.1_Missense_Mutation_p.L389F|EGF_ENST00000509793.1_Missense_Mutation_p.L347F	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	389	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATTTGTTCTGCTTCCTGATGG	0.388																																																	0			4											252.0	222.0	232.0					4																	110882121		2203	4300	6503	111101570	SO:0001583	missense	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1165C>T	4.37:g.110882121C>T	ENSP00000265171:p.Leu389Phe		111101570	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300652	0.81136	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.92048	-2.96;-2.96;-2.96	4.82	4.82	0.62117	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94169	0.8129	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91540	0.5249	10	0.09843	T	0.71	.	17.9396	0.89023	0.0:1.0:0.0:0.0	.	389;347;389	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	F	347;389;389	ENSP00000424316:L347F;ENSP00000265171:L389F;ENSP00000421384:L389F	ENSP00000265171:L389F	L	+	1	0	EGF	111101570	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	5.218000	0.65257	2.225000	0.72522	0.561000	0.74099	CTT		0.388	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
FAT4	79633	hgsc.bcm.edu	37	4	126238751	126238751	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:126238751C>T	ENST00000394329.3	+	1	1198	c.1185C>T	c.(1183-1185)tcC>tcT	p.S395S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAACATCTCCGTGCAAATTC	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			4											28.0	32.0	30.0					4																	126238751		2020	4167	6187	126458201	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1185C>T	4.37:g.126238751C>T		1548	126458201	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	hgsc.bcm.edu	37	4	126371860	126371860	+	Missense_Mutation	SNP	C	C	T	rs373873722		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:126371860C>T	ENST00000394329.3	+	9	9702	c.9689C>T	c.(9688-9690)gCg>gTg	p.A3230V	FAT4_ENST00000335110.5_Missense_Mutation_p.A1528V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3230	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGTGATTGCGTATACTGTA	0.433																																																	0			4						C	VAL/ALA	0,4406		0,0,2203	87.0	81.0	83.0		9689	5.6	0.9	4		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT4	NM_024582.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3230/4982	126371860	1,13005	2203	4300	6503	126591310	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9689C>T	4.37:g.126371860C>T	ENSP00000377862:p.Ala3230Val		126591310	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155536	0.38021	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01804	4.63;4.63	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.34088	U	0.004271	T	0.02727	0.0082	N	0.01649	-0.78	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.994;0.991;0.997	T	0.78386	-0.2224	10	0.18710	T	0.47	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1528;3230;3230	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3230;1528	ENSP00000377862:A3230V;ENSP00000335169:A1528V	ENSP00000335169:A1528V	A	+	2	0	FAT4	126591310	1.000000	0.71417	0.935000	0.37517	0.088000	0.18126	5.942000	0.70203	2.652000	0.90054	0.655000	0.94253	GCG		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
PGRMC2	10424	hgsc.bcm.edu	37	4	129208629	129208629	+	Missense_Mutation	SNP	T	T	G	rs149247614	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:129208629T>G	ENST00000296425.5	-	1	337	c.317A>C	c.(316-318)gAg>gCg	p.E106A	PGRMC2_ENST00000520121.1_Missense_Mutation_p.E130A|PGRMC2_ENST00000512483.1_Intron|PGRMC2_ENST00000503872.1_5'Flank|PGRMC2_ENST00000503588.1_5'Flank			O15173	PGRC2_HUMAN	progesterone receptor membrane component 2	106	Cytochrome b5 heme-binding.				steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)										GCGCAGCTGCTCCAAGCTGAA	0.697																																					Colon(78;371 1268 8296 41305 53030)												0			4											27.0	23.0	25.0					4																	129208629		2178	4239	6417	129428079	SO:0001583	missense	10424				CCDS3739.1, CCDS3739.2	4q26	2008-08-29			ENSG00000164040	ENSG00000164040			16089	protein-coding gene	gene with protein product		607735				9705155	Standard	NM_006320		Approved	PMBP, DG6	uc003igg.3	O15173	OTTHUMG00000133342	ENST00000296425.5:c.317A>C	4.37:g.129208629T>G	ENSP00000296425:p.Glu106Ala		129428079	Q569H1	Missense_Mutation	SNP	ENST00000296425.5	37		.	.	.	.	.	.	.	.	.	.	T	13.24	2.178231	0.38511	.	.	ENSG00000164040	ENST00000296425;ENST00000520121	T;T	0.81415	-1.49;-1.49	4.06	4.06	0.47325	Cytochrome b5 (3);	0.292790	0.37437	N	0.002096	T	0.65719	0.2718	N	0.12637	0.245	0.58432	D	0.999998	P	0.37370	0.592	B	0.37091	0.241	T	0.68606	-0.5364	10	0.40728	T	0.16	-10.4615	13.1584	0.59531	0.0:0.0:0.0:1.0	.	106	O15173	PGRC2_HUMAN	A	106;130	ENSP00000296425:E106A;ENSP00000429301:E130A	ENSP00000296425:E106A	E	-	2	0	PGRMC2	129428079	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	3.819000	0.55686	1.831000	0.53308	0.459000	0.35465	GAG		0.697	PGRMC2-007	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470697.1		
TBC1D9	23158	hgsc.bcm.edu	37	4	141543531	141543531	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:141543531G>A	ENST00000442267.2	-	21	3693	c.3619C>T	c.(3619-3621)Cgg>Tgg	p.R1207W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1207							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCCCAGTCCCGGTCCAGGCTG	0.647																																																	0			4											37.0	42.0	41.0					4																	141543531		2085	4188	6273	141762981	SO:0001583	missense	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3619C>T	4.37:g.141543531G>A	ENSP00000411197:p.Arg1207Trp		141762981	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466754	0.63625	.	.	ENSG00000109436	ENST00000442267	T	0.30981	1.51	5.01	3.03	0.35002	.	0.109676	0.64402	D	0.000010	T	0.32912	0.0845	L	0.44542	1.39	0.45648	D	0.998576	D	0.65815	0.995	P	0.48677	0.586	T	0.17198	-1.0377	10	0.66056	D	0.02	.	12.5589	0.56269	0.0:0.0:0.5352:0.4648	.	1207	Q6ZT07	TBCD9_HUMAN	W	1207	ENSP00000411197:R1207W	ENSP00000411197:R1207W	R	-	1	2	TBC1D9	141762981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.471000	0.60182	1.077000	0.40990	0.655000	0.94253	CGG		0.647	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
FBXW7	55294	hgsc.bcm.edu	37	4	153245445	153245445	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:153245445C>T	ENST00000281708.4	-	11	2975	c.1746G>A	c.(1744-1746)tcG>tcA	p.S582S	FBXW7_ENST00000603841.1_Silent_p.S582S|FBXW7_ENST00000603548.1_Silent_p.S582S|FBXW7_ENST00000263981.5_Silent_p.S502S|FBXW7_ENST00000393956.3_Silent_p.S406S|FBXW7_ENST00000296555.5_Silent_p.S464S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	582			S -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CACTTGTTAACGACTGGTGCC	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											149.0	126.0	133.0					4																	153245445		2203	4300	6503	153464895	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.1746G>A	4.37:g.153245445C>T			153464895	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153249466	153249466	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:153249466A>G	ENST00000281708.4	-	9	2541	c.1312T>C	c.(1312-1314)Tct>Cct	p.S438P	FBXW7_ENST00000603841.1_Missense_Mutation_p.S438P|FBXW7_ENST00000603548.1_Missense_Mutation_p.S438P|FBXW7_ENST00000263981.5_Missense_Mutation_p.S358P|FBXW7_ENST00000393956.3_Missense_Mutation_p.S262P|FBXW7_ENST00000296555.5_Missense_Mutation_p.S320P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	438					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CGATCTGTAGATCCACTAATG	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											316.0	267.0	284.0					4																	153249466		2203	4300	6503	153468916	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1312T>C	4.37:g.153249466A>G	ENSP00000281708:p.Ser438Pro		153468916	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.603572	0.87157	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	H	0.99475	4.585	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;P;D;D	0.81914	0.994;0.869;0.995;0.995	D	0.95737	0.8780	10	0.87932	D	0	-11.5446	16.3291	0.83001	1.0:0.0:0.0:0.0	.	262;438;320;358	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	P	438;320;358;262	ENSP00000281708:S438P;ENSP00000296555:S320P;ENSP00000263981:S358P;ENSP00000377528:S262P	ENSP00000263981:S358P	S	-	1	0	FBXW7	153468916	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	9.339000	0.96797	2.257000	0.74773	0.528000	0.53228	TCT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FAM198B	51313	hgsc.bcm.edu	37	4	159052022	159052022	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:159052022C>A	ENST00000296530.8	-	4	1889	c.1268G>T	c.(1267-1269)aGg>aTg	p.R423M	FAM198B_ENST00000393807.5_Missense_Mutation_p.R431M|FAM198B_ENST00000585682.1_Missense_Mutation_p.R423M|FAM198B_ENST00000589306.1_5'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	423						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						AACCAAATGCCTTGGGTCATG	0.403																																																	0			4											111.0	105.0	107.0					4																	159052022		2203	4300	6503	159271472	SO:0001583	missense	0				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1268G>T	4.37:g.159052022C>A	ENSP00000296530:p.Arg423Met		159271472	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723076	0.68959	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000505460	T;T	0.32753	1.44;1.44	5.71	4.84	0.62591	.	0.159131	0.53938	D	0.000046	T	0.52008	0.1708	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.974	T	0.55617	-0.8113	10	0.72032	D	0.01	-0.5356	14.2087	0.65750	0.0:0.9255:0.0:0.0745	.	431;423	Q6UWH4-2;Q6UWH4	.;F198B_HUMAN	M	423;423;431;129	ENSP00000296530:R423M;ENSP00000377396:R431M	ENSP00000296530:R423M	R	-	2	0	FAM198B	159271472	0.999000	0.42202	0.988000	0.46212	0.989000	0.77384	3.308000	0.51896	1.491000	0.48482	0.650000	0.86243	AGG		0.403	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
PALLD	23022	hgsc.bcm.edu	37	4	169824954	169824954	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:169824954A>G	ENST00000505667.1	+	15	2692	c.2519A>G	c.(2518-2520)cAc>cGc	p.H840R	PALLD_ENST00000261509.6_Missense_Mutation_p.H823R|PALLD_ENST00000512127.1_Missense_Mutation_p.H441R|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.H336R|PALLD_ENST00000335742.7_Missense_Mutation_p.H665R			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1047	Interaction with ACTN.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAGAGTGATCACTACACCATT	0.408									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0			4											103.0	99.0	101.0					4																	169824954		2203	4300	6503	170061529	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2519A>G	4.37:g.169824954A>G	ENSP00000425556:p.His840Arg		170061529	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696378	0.48202	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000393726;ENST00000507735	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;1.98;-0.02	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33712	U	0.004627	T	0.48804	0.1520	N	0.04994	-0.135	0.80722	D	1	P;B;B;P	0.47034	0.889;0.071;0.4;0.889	P;B;B;P	0.49799	0.622;0.077;0.332;0.622	T	0.47774	-0.9091	10	0.14252	T	0.57	.	15.5185	0.75846	1.0:0.0:0.0:0.0	.	840;1047;441;823	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	R	823;665;840;441;116;336	ENSP00000261509:H823R;ENSP00000336735:H665R;ENSP00000425556:H840R;ENSP00000426947:H441R;ENSP00000377327:H116R;ENSP00000424016:H336R	ENSP00000261509:H823R	H	+	2	0	PALLD	170061529	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	7.385000	0.79763	2.246000	0.74042	0.533000	0.62120	CAC		0.408	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	
C4orf27	54969	hgsc.bcm.edu	37	4	170663195	170663195	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:170663195G>A	ENST00000393381.2	-	5	636	c.561C>T	c.(559-561)aaC>aaT	p.N187N		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	187						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTTCATCTATGTTTTTCAAGA	0.353																																																	0			4											145.0	132.0	137.0					4																	170663195		2202	4300	6502	170899770	SO:0001819	synonymous_variant	54969			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.561C>T	4.37:g.170663195G>A			170899770		Silent	SNP	ENST00000393381.2	37	CCDS3813.1																																																																																				0.353	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867	
WDR17	116966	hgsc.bcm.edu	37	4	177069341	177069341	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:177069341C>T	ENST00000280190.4	+	14	1980	c.1824C>T	c.(1822-1824)caC>caT	p.H608H	WDR17_ENST00000393643.2_Silent_p.H584H|WDR17_ENST00000507824.2_Silent_p.H591H|WDR17_ENST00000508596.1_Silent_p.H584H			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	608										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTAATGGACACACTGCACCTG	0.388																																																	0			4											172.0	169.0	170.0					4																	177069341		2203	4300	6503	177306335	SO:0001819	synonymous_variant	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1824C>T	4.37:g.177069341C>T			177306335	E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	CCDS3825.1																																																																																				0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
STOX2	56977	hgsc.bcm.edu	37	4	184828090	184828090	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:184828090G>A	ENST00000308497.4	+	1	1582	c.147G>A	c.(145-147)tcG>tcA	p.S49S	STOX2_ENST00000438269.1_Silent_p.S49S|STOX2_ENST00000511250.1_Intron	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	49					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CCCAGGCTTCGCGGGGCTACA	0.706																																																	0			4											17.0	20.0	19.0					4																	184828090		1521	3229	4750	185065084	SO:0001819	synonymous_variant	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.147G>A	4.37:g.184828090G>A			185065084	A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	CCDS47167.1																																																																																				0.706	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225	
TPO	7173	hgsc.bcm.edu	37	2	1426879	1426879	+	Missense_Mutation	SNP	G	G	A	rs199694732		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:1426879G>A	ENST00000345913.4	+	3	248	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	TPO_ENST00000382201.3_Missense_Mutation_p.A53T|TPO_ENST00000346956.3_Missense_Mutation_p.A53T|TPO_ENST00000382269.3_Missense_Mutation_p.A53T|TPO_ENST00000349624.3_Missense_Mutation_p.A53T|TPO_ENST00000329066.4_Missense_Mutation_p.A53T|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.A53T|TPO_ENST00000539820.1_Missense_Mutation_p.A53T|TPO_ENST00000337415.3_Missense_Mutation_p.A53T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	53			A -> P (in TDH2A). {ECO:0000269|PubMed:12213873}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGTGGACACCGCCATGTACGC	0.602																																																	0			2	GRCh37	CM022257	TPO	M							92.0	77.0	82.0					2																	1426879		2203	4300	6503	1405886	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.157G>A	2.37:g.1426879G>A	ENSP00000318820:p.Ala53Thr		1405886	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973506	0.53720	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	3.72	2.82	0.32997	.	0.117057	0.37857	N	0.001914	T	0.65133	0.2662	M	0.81341	2.54	0.09310	N	1	D;P;D;D;D	0.61697	0.99;0.931;0.99;0.972;0.962	P;B;P;P;B	0.51895	0.665;0.356;0.683;0.552;0.427	T	0.59836	-0.7379	10	0.87932	D	0	-22.8934	8.6299	0.33913	0.0:0.0:0.7718:0.2282	.	53;53;53;53;53	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	T	53	ENSP00000371704:A53T;ENSP00000337263:A53T;ENSP00000318820:A53T;ENSP00000263886:A53T;ENSP00000332044:A53T;ENSP00000444840:A53T;ENSP00000329869:A53T;ENSP00000371636:A53T;ENSP00000390994:A53T;ENSP00000371633:A53T	ENSP00000329869:A53T	A	+	1	0	TPO	1405886	0.112000	0.22096	0.006000	0.13384	0.020000	0.10135	1.448000	0.35112	1.105000	0.41606	0.467000	0.42956	GCC		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
TSSC1	7260	hgsc.bcm.edu	37	2	3197910	3197910	+	Silent	SNP	G	G	A	rs148611386		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:3197910G>A	ENST00000382125.4	-	7	873	c.681C>T	c.(679-681)caC>caT	p.H227H	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_Silent_p.H254H	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	227								p.H227Q(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CCAGCTGTCCGTGGGCATTCT	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19761	0.0		0.0	False		,,,				2504	0.0				Colon(140;1261 1762 4183 34270 49743)												1	Substitution - Missense(1)	lung(1)	2						G		1,4405	2.1+/-5.4	0,1,2202	86.0	91.0	90.0		681	-1.5	1.0	2	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	TSSC1	NM_003310.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		227/388	3197910	1,13005	2203	4300	6503	3176917	SO:0001819	synonymous_variant	7260			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.681C>T	2.37:g.3197910G>A			3176917	D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	CCDS1651.1																																																																																				0.507	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310	
SOX11	6664	hgsc.bcm.edu	37	2	5832916	5832916	+	Silent	SNP	G	G	C	rs139885563	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:5832916G>C	ENST00000322002.3	+	1	118	c.63G>C	c.(61-63)acG>acC	p.T21T	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	21					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CGCTGGACACGGAGGAGGGCG	0.682																																																	0			2											28.0	30.0	29.0					2																	5832916		2202	4300	6502	5750367	SO:0001819	synonymous_variant	6664				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.63G>C	2.37:g.5832916G>C			5750367	Q4ZFV8	Silent	SNP	ENST00000322002.3	37	CCDS1654.1																																																																																				0.682	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108	
ASAP2	8853	hgsc.bcm.edu	37	2	9528650	9528650	+	Silent	SNP	G	G	A	rs200458713		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:9528650G>A	ENST00000281419.3	+	22	2698	c.2358G>A	c.(2356-2358)ccG>ccA	p.P786P	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P786P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	786	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCGCCCCCCCGCTTCCTCCAC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		13524	0.0		0.001	False		,,,				2504	0.0																0			2						G	,	0,4406		0,0,2203	27.0	30.0	29.0		2358,2358	-11.2	0.0	2		29	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	ASAP2	NM_001135191.1,NM_003887.2	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	786/962,786/1007	9528650	1,13003	2203	4299	6502	9446101	SO:0001819	synonymous_variant	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2358G>A	2.37:g.9528650G>A			9446101	D6W4Y8	Silent	SNP	ENST00000281419.3	37	CCDS1661.1																																																																																				0.582	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	
TRIB2	28951	hgsc.bcm.edu	37	2	12880639	12880639	+	Missense_Mutation	SNP	C	C	T	rs186204534		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:12880639C>T	ENST00000155926.4	+	3	2170	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	TRIB2_ENST00000381465.2_Missense_Mutation_p.R115W	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTGGTGGGGCGGTACCCTTT	0.572																																																	0			2											105.0	75.0	85.0					2																	12880639		2203	4300	6503	12798090	SO:0001583	missense	28951			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.751C>T	2.37:g.12880639C>T	ENSP00000155926:p.Arg251Trp		12798090		Missense_Mutation	SNP	ENST00000155926.4	37	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509770	0.85282	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.68025	-0.3;-0.3	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86447	0.5935	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88437	0.3039	10	0.87932	D	0	-10.6335	19.354	0.94404	0.0:1.0:0.0:0.0	.	251	Q92519	TRIB2_HUMAN	W	251;115	ENSP00000155926:R251W;ENSP00000370874:R115W	ENSP00000155926:R251W	R	+	1	2	TRIB2	12798090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	CGG		0.572	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643	
NBAS	51594	hgsc.bcm.edu	37	2	15330512	15330512	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:15330512T>C	ENST00000281513.5	-	49	6473	c.6448A>G	c.(6448-6450)Att>Gtt	p.I2150V	NBAS_ENST00000441750.1_Missense_Mutation_p.I2030V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2150					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)		p.I2150F(1)		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						TCATTCTCAATGTCAGCTATG	0.378																																																	1	Substitution - Missense(1)	ovary(1)	2											103.0	104.0	104.0					2																	15330512		2203	4300	6503	15247963	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.6448A>G	2.37:g.15330512T>C	ENSP00000281513:p.Ile2150Val		15247963	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	5.944	0.358197	0.11239	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283;ENST00000423602	T;T	0.08720	3.06;3.23	5.47	-4.32	0.03688	.	0.555420	0.20111	N	0.099008	T	0.06872	0.0175	L	0.38838	1.175	0.09310	N	1	B;B	0.20052	0.041;0.0	B;B	0.22386	0.039;0.001	T	0.20840	-1.0263	10	0.87932	D	0	.	12.5309	0.56115	0.0:0.4952:0.0:0.5048	.	2030;2150	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	V	2030;2150;6;4	ENSP00000413201:I2030V;ENSP00000281513:I2150V	ENSP00000281513:I2150V	I	-	1	0	NBAS	15247963	0.036000	0.19791	0.000000	0.03702	0.489000	0.33432	0.040000	0.13905	-1.003000	0.03425	-0.263000	0.10527	ATT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
MYCN	4613	hgsc.bcm.edu	37	2	16085728	16085728	+	Missense_Mutation	SNP	C	C	T	rs144939456		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:16085728C>T	ENST00000281043.3	+	3	1201	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	302					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CATCACTGTGCGTCCCAAGAA	0.582			A		neuroblastoma																																			Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	0			2						C	CYS/ARG	0,4406		0,0,2203	103.0	83.0	90.0		904	4.1	0.9	2	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYCN	NM_005378.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	302/465	16085728	1,13005	2203	4300	6503	16003179	SO:0001583	missense	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.904C>T	2.37:g.16085728C>T	ENSP00000281043:p.Arg302Cys		16003179	Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896675	0.52121	0.0	1.16E-4	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.81908	-1.55	4.94	4.05	0.47172	Transcription regulator Myc, N-terminal (1);	1.323720	0.05292	U	0.521372	D	0.91506	0.7318	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.82255	-0.0548	10	0.87932	D	0	-8.6368	14.9038	0.70703	0.1445:0.8555:0.0:0.0	.	302	P04198	MYCN_HUMAN	C	302;220	ENSP00000281043:R302C	ENSP00000281043:R302C	R	+	1	0	MYCN	16003179	1.000000	0.71417	0.862000	0.33874	0.447000	0.32167	2.112000	0.41892	1.203000	0.43233	0.655000	0.94253	CGT		0.582	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378	
ATAD2B	54454	hgsc.bcm.edu	37	2	23977138	23977138	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:23977138C>T	ENST00000238789.5	-	27	4589	c.4246G>A	c.(4246-4248)Gca>Aca	p.A1416T	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1416						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCAACTGCCAGATTGTTG	0.318																																																	0			2											38.0	36.0	37.0					2																	23977138		1831	4080	5911	23830642	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4246G>A	2.37:g.23977138C>T	ENSP00000238789:p.Ala1416Thr		23830642	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.448|6.448	0.450796|0.450796	0.12223|0.12223	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.90844|.	-2.74|.	5.47|5.47	3.65|3.65	0.41850|0.41850	.|.	0.204155|.	0.33075|.	N|.	0.005310|.	T|.	0.14700|.	0.0355|.	N|N	0.03115|0.03115	-0.41|-0.41	0.25785|0.25785	N|N	0.984684|0.984684	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|.	0.23261|.	-1.0193|.	10|.	0.07030|.	T|.	0.85|.	.|.	6.8287|6.8287	0.23897|0.23897	0.0:0.6029:0.0:0.3971|0.0:0.6029:0.0:0.3971	.|.	1416;1411|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	T|X	1416;584|691	ENSP00000238789:A1416T|.	ENSP00000238789:A1416T|.	A|W	-|-	1|3	0|0	ATAD2B|ATAD2B	23830642|23830642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.727000|1.727000	0.38095|0.38095	0.779000|0.779000	0.33543|0.33543	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.318	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
GPR113	165082	hgsc.bcm.edu	37	2	26536276	26536276	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:26536276G>A	ENST00000311519.1	-	9	1441	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	GPR113_ENST00000421160.2_Missense_Mutation_p.A412V|GPR113_ENST00000541401.1_Missense_Mutation_p.A84V|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.A282V	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	481					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGAGCCTCGCATCTGTGCA	0.642																																																	0			2											26.0	26.0	26.0					2																	26536276		2202	4300	6502	26389780	SO:0001583	missense	165082			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1442C>T	2.37:g.26536276G>A	ENSP00000307831:p.Ala481Val		26389780	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571388	0.45798	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.28666	1.6;2.98;2.98;2.98	5.84	-6.74	0.01743	.	.	.	.	.	T	0.19685	0.0473	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.24483	0.104;0.068;0.027;0.005	B;B;B;B	0.19391	0.025;0.021;0.025;0.005	T	0.35822	-0.9773	9	0.56958	D	0.05	2.5799	5.2899	0.15721	0.3904:0.0:0.2271:0.3825	.	412;282;481;84	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	V	84;282;412;481	ENSP00000445729:A84V;ENSP00000327396:A282V;ENSP00000388537:A412V;ENSP00000307831:A481V	ENSP00000307831:A481V	A	-	2	0	GPR113	26389780	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-1.207000	0.03008	-0.909000	0.03852	-0.397000	0.06425	GCG		0.642	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835	
SLC5A6	8884	hgsc.bcm.edu	37	2	27423973	27423973	+	Nonsense_Mutation	SNP	G	G	A	rs546600819		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:27423973G>A	ENST00000310574.3	-	16	2130	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Nonsense_Mutation_p.R553*	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	553					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	GACCGGCCTCGCATTCTCCCT	0.607																																																	0			2											86.0	84.0	85.0					2																	27423973		2203	4300	6503	27277477	SO:0001587	stop_gained	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1657C>T	2.37:g.27423973G>A	ENSP00000310208:p.Arg553*		27277477	B2RB85|D6W549|Q969Y5	Nonsense_Mutation	SNP	ENST00000310574.3	37	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	G	36	5.930168	0.97116	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	.	.	.	5.73	4.77	0.60923	.	0.242069	0.39544	N	0.001334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.7062	0.57061	0.0:0.0:0.8249:0.1751	.	.	.	.	X	553	.	ENSP00000310208:R553X	R	-	1	2	SLC5A6	27277477	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	1.404000	0.34623	2.698000	0.92095	0.650000	0.86243	CGA		0.607	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095	
IFT172	26160	hgsc.bcm.edu	37	2	27684212	27684212	+	Missense_Mutation	SNP	C	C	T	rs148237432		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:27684212C>T	ENST00000260570.3	-	22	2469	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	789					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTTCCTCTCGGGTCAGCAC	0.567																																																	0			2						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	97.0	101.0		2366	2.9	1.0	2	dbSNP_134	101	0,8600		0,0,4300	no	missense	IFT172	NM_015662.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	789/1750	27684212	1,13005	2203	4300	6503	27537716	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2366G>A	2.37:g.27684212C>T	ENSP00000260570:p.Arg789Gln		27537716	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021570	0.35701	2.27E-4	0.0	ENSG00000138002	ENST00000260570	T	0.62941	-0.01	5.68	2.93	0.34026	Tetratricopeptide-like helical (1);	0.576140	0.19450	N	0.113947	T	0.41743	0.1172	N	0.25647	0.755	0.80722	D	1	B	0.18610	0.029	B	0.09377	0.004	T	0.11991	-1.0565	10	0.10902	T	0.67	-1.6506	7.833	0.29353	0.0:0.6806:0.0:0.3194	.	789	Q9UG01	IF172_HUMAN	Q	789	ENSP00000260570:R789Q	ENSP00000260570:R789Q	R	-	2	0	IFT172	27537716	0.418000	0.25440	0.999000	0.59377	0.878000	0.50629	0.750000	0.26334	0.772000	0.33382	0.585000	0.79938	CGA		0.567	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
FAM179A	165186	hgsc.bcm.edu	37	2	29226542	29226542	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:29226542G>A	ENST00000379558.4	+	6	1175	c.824G>A	c.(823-825)cGc>cAc	p.R275H	FAM179A_ENST00000403861.2_Missense_Mutation_p.R275H	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	275										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGGCCCCACGCACGCGGTAA	0.642																																																	0			2											21.0	23.0	22.0					2																	29226542		1995	4148	6143	29080046	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.824G>A	2.37:g.29226542G>A	ENSP00000368876:p.Arg275His		29080046	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	1.318	-0.600366	0.03744	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.10192	3.1;2.9	4.34	-8.67	0.00863	.	.	.	.	.	T	0.04861	0.0131	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.38067	-0.9678	9	0.40728	T	0.16	.	8.3695	0.32406	0.3943:0.3068:0.2989:0.0	.	275;275	F8W8E4;Q6ZUX3	.;F179A_HUMAN	H	275	ENSP00000368876:R275H;ENSP00000384699:R275H	ENSP00000368876:R275H	R	+	2	0	FAM179A	29080046	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.463000	0.02361	-3.964000	0.00086	-1.579000	0.00862	CGC		0.642	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280	
PRKD3	23683	hgsc.bcm.edu	37	2	37480453	37480453	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:37480453C>T	ENST00000379066.1	-	19	3302	c.2540G>A	c.(2539-2541)cGc>cAc	p.R847H	PRKD3_ENST00000234179.2_Missense_Mutation_p.R847H			O94806	KPCD3_HUMAN	protein kinase D3	847					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTCTCCAATGCGAGTTTCAAA	0.373																																					Melanoma(80;621 1355 8613 11814 51767)												0			2											126.0	113.0	117.0					2																	37480453		2203	4300	6503	37333957	SO:0001583	missense	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2540G>A	2.37:g.37480453C>T	ENSP00000368356:p.Arg847His		37333957	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644598	0.87859	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.39787	1.06;1.06	5.94	5.07	0.68467	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	L	0.38175	1.15	0.47819	D	0.999524	D	0.53745	0.962	P	0.50049	0.629	T	0.38373	-0.9664	10	0.66056	D	0.02	-5.0643	11.3806	0.49754	0.0:0.8617:0.0:0.1383	.	847	O94806	KPCD3_HUMAN	H	847	ENSP00000368356:R847H;ENSP00000234179:R847H	ENSP00000234179:R847H	R	-	2	0	PRKD3	37333957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.982000	0.63825	1.522000	0.49001	0.650000	0.86243	CGC		0.373	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
THADA	63892	hgsc.bcm.edu	37	2	43571279	43571279	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:43571279T>C	ENST00000405006.4	-	30	4676	c.4325A>G	c.(4324-4326)aAa>aGa	p.K1442R	THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.K1442R|THADA_ENST00000415080.2_Missense_Mutation_p.K1123R|THADA_ENST00000485353.1_5'Flank	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1442										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGCCAGAGTTTGGCTTTGGT	0.443																																																	0			2											75.0	70.0	72.0					2																	43571279		1916	4130	6046	43424783	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4325A>G	2.37:g.43571279T>C	ENSP00000385995:p.Lys1442Arg		43424783	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.50|15.50	2.853423|2.853423	0.51270|0.51270	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.12879|.	2.8;2.64;2.8|.	4.8|4.8	3.64|3.64	0.41730|0.41730	.|.	0.116052|.	0.56097|.	D|.	0.000031|.	T|T	0.34337|0.34337	0.0894|0.0894	L|L	0.33485|0.33485	1.01|1.01	0.30213|0.30213	N|N	0.79752|0.79752	B;B;B|.	0.23806|.	0.091;0.065;0.055|.	B;B;B|.	0.26202|.	0.067;0.01;0.008|.	T|T	0.28776|0.28776	-1.0033|-1.0033	10|5	0.12766|.	T|.	0.61|.	.|.	7.7623|7.7623	0.28959|0.28959	0.0:0.1642:0.0:0.8358|0.0:0.1642:0.0:0.8358	.|.	1369;1123;1442|.	B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;THADA_HUMAN|.	R|D	1442;1369;1123;1442|682	ENSP00000386088:K1442R;ENSP00000416048:K1123R;ENSP00000385995:K1442R|.	ENSP00000349464:K1369R|.	K|N	-|-	2|1	0|0	THADA|THADA	43424783|43424783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.306000|2.306000	0.43673|0.43673	0.858000|0.858000	0.35431|0.35431	0.477000|0.477000	0.44152|0.44152	AAA|AAC		0.443	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
NRXN1	9378	hgsc.bcm.edu	37	2	50733738	50733738	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:50733738G>T	ENST00000406316.2	-	13	3868	c.2392C>A	c.(2392-2394)Ctt>Att	p.L798I	NRXN1_ENST00000402717.3_Missense_Mutation_p.L790I|NRXN1_ENST00000406859.3_Missense_Mutation_p.L798I|NRXN1_ENST00000405472.3_Missense_Mutation_p.L790I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.L798I|NRXN1_ENST00000404971.1_Missense_Mutation_p.L838I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	798	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGCAAAAAGAGTCTCGGGA	0.443																																																	0			2											114.0	108.0	109.0					2																	50733738		1902	4124	6026	50587242	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2392C>A	2.37:g.50733738G>T	ENSP00000384311:p.Leu798Ile		50587242	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125562	0.56721	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.7	5.7	0.88788	.	0.057967	0.64402	D	0.000002	T	0.80076	0.4557	L	0.45470	1.425	0.36741	D	0.882236	B;B;B	0.21071	0.051;0.024;0.011	B;B;B	0.31869	0.137;0.087;0.044	T	0.77335	-0.2626	10	0.38643	T	0.18	.	19.8388	0.96673	0.0:0.0:1.0:0.0	.	838;798;790	Q9ULB1-3;F8WB18;A7E294	.;.;.	I	838;798;790;798;839;790;798	ENSP00000385142:L838I;ENSP00000384311:L798I;ENSP00000434015:L790I;ENSP00000385017:L798I;ENSP00000385434:L790I;ENSP00000385681:L798I	ENSP00000385017:L798I	L	-	1	0	NRXN1	50587242	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.155000	0.71833	2.695000	0.91970	0.561000	0.74099	CTT		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
NRXN1	9378	hgsc.bcm.edu	37	2	50779939	50779939	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:50779939G>A	ENST00000406316.2	-	9	3021	c.1545C>T	c.(1543-1545)ggC>ggT	p.G515G	NRXN1_ENST00000402717.3_Silent_p.G507G|NRXN1_ENST00000406859.3_Silent_p.G515G|NRXN1_ENST00000405472.3_Silent_p.G507G|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.G515G|NRXN1_ENST00000404971.1_Silent_p.G555G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	515	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATAAGATGAGGCCATTTGGCT	0.433																																																	0			2											162.0	151.0	154.0					2																	50779939		1904	4114	6018	50633443	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1545C>T	2.37:g.50779939G>A			50633443	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																				0.433	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
RTN4	57142	hgsc.bcm.edu	37	2	55253949	55253949	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:55253949A>G	ENST00000337526.6	-	3	1529	c.1286T>C	c.(1285-1287)cTt>cCt	p.L429P	RTN4_ENST00000405240.1_Missense_Mutation_p.L223P|RTN4_ENST00000394611.2_Missense_Mutation_p.L223P|RTN4_ENST00000357376.3_Missense_Mutation_p.L223P|RTN4_ENST00000404909.1_Missense_Mutation_p.L223P|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.L197P|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	429			L -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AGTTTGCTCAAGGCTATCTGC	0.383																																																	0			2											247.0	238.0	241.0					2																	55253949		2202	4299	6501	55107453	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1286T>C	2.37:g.55253949A>G	ENSP00000337838:p.Leu429Pro		55107453	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	A	4.705	0.131049	0.08981	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.23950	1.88;1.88;2.31;1.88;1.88;1.9	6.06	2.42	0.29668	.	1.733500	0.02514	N	0.091842	T	0.32224	0.0822	M	0.66939	2.045	0.19575	N	0.999966	B	0.18461	0.028	B	0.15870	0.014	T	0.27938	-1.0059	10	0.44086	T	0.13	0.1938	9.0099	0.36135	0.6632:0.0:0.3368:0.0	.	429	Q9NQC3	RTN4_HUMAN	P	223;223;429;223;223;197	ENSP00000384471:L223P;ENSP00000349944:L223P;ENSP00000337838:L429P;ENSP00000378109:L223P;ENSP00000385650:L223P;ENSP00000346465:L197P	ENSP00000337838:L429P	L	-	2	0	RTN4	55107453	0.829000	0.29322	0.028000	0.17463	0.441000	0.31987	1.274000	0.33132	0.180000	0.19960	0.528000	0.53228	CTT		0.383	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
CCDC88A	55704	hgsc.bcm.edu	37	2	55561838	55561838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:55561838G>A	ENST00000436346.1	-	15	2960	c.2119C>T	c.(2119-2121)Cga>Tga	p.R707*	CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.R707*|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.R707*|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.R707*|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	707					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.R707*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACATTCCTTCGCAGTTCTAAG	0.348																																																	1	Substitution - Nonsense(1)	large_intestine(1)	2											80.0	82.0	82.0					2																	55561838		2202	4299	6501	55415342	SO:0001587	stop_gained	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2119C>T	2.37:g.55561838G>A	ENSP00000410608:p.Arg707*		55415342	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	G	39	7.676002	0.98428	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	.	.	.	4.9	3.96	0.45880	.	0.000000	0.40818	U	0.001009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8176	14.4226	0.67193	0.0:0.0:0.7525:0.2475	.	.	.	.	X	707	.	ENSP00000263630:R707X	R	-	1	2	CCDC88A	55415342	0.993000	0.37304	1.000000	0.80357	0.969000	0.65631	1.493000	0.35605	2.421000	0.82119	0.462000	0.41574	CGA		0.348	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
FAM161A	84140	hgsc.bcm.edu	37	2	62067077	62067077	+	Silent	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:62067077T>A	ENST00000405894.3	-	3	1163	c.1062A>T	c.(1060-1062)cgA>cgT	p.R354R	FAM161A_ENST00000404929.1_Silent_p.R354R	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	354					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGCTTTAAATCGATTTGTTT	0.403																																																	0			2											117.0	113.0	114.0					2																	62067077		1855	4106	5961	61920581	SO:0001819	synonymous_variant	84140				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1062A>T	2.37:g.62067077T>A			61920581	B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	CCDS42687.2																																																																																				0.403	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	
WDPCP	51057	hgsc.bcm.edu	37	2	63486507	63486507	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:63486507G>A	ENST00000272321.7	-	14	2377	c.1850C>T	c.(1849-1851)gCa>gTa	p.A617V	WDPCP_ENST00000398544.3_Missense_Mutation_p.A458V|WDPCP_ENST00000409120.1_Missense_Mutation_p.A425V|WDPCP_ENST00000409199.1_Missense_Mutation_p.A425V|WDPCP_ENST00000409562.3_Intron	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	617					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TTCAGCTAGTGCCAATTCACC	0.358																																																	0			2											130.0	124.0	126.0					2																	63486507		1829	4083	5912	63340011	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1850C>T	2.37:g.63486507G>A	ENSP00000272321:p.Ala617Val		63340011	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.897897	0.52227	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.42	4.53	0.55603	.	0.075573	0.52532	D	0.000078	T	0.42245	0.1194	L	0.41710	1.295	0.80722	D	1	P;P	0.51537	0.889;0.946	B;P	0.48677	0.426;0.586	T	0.19192	-1.0313	10	0.36615	T	0.2	-10.4156	14.5339	0.67947	0.072:0.0:0.928:0.0	.	617;458	O95876;O95876-3	FRITZ_HUMAN;.	V	617;425;425;458	ENSP00000272321:A617V;ENSP00000386592:A425V;ENSP00000386769:A425V;ENSP00000381552:A458V	ENSP00000272321:A617V	A	-	2	0	WDPCP	63340011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.430000	0.59907	2.545000	0.85829	0.591000	0.81541	GCA		0.358	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910	
ZNF638	27332	hgsc.bcm.edu	37	2	71577132	71577132	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:71577132C>T	ENST00000409544.1	+	2	1678	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	ZNF638_ENST00000377802.2_Missense_Mutation_p.R350W|ZNF638_ENST00000264447.4_Missense_Mutation_p.R350W|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.R350W	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	350					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCAGCAAGAGCGGATCCCACA	0.423																																																	0			2											127.0	126.0	126.0					2																	71577132		2203	4300	6503	71430640	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1048C>T	2.37:g.71577132C>T	ENSP00000386433:p.Arg350Trp		71430640	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925108	0.34002	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.78003	-0.55;-1.14;0.01;-0.54;0.99;0.99	5.88	2.78	0.32641	.	0.171583	0.48767	D	0.000161	T	0.78880	0.4353	N	0.24115	0.695	0.31602	N	0.652565	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.995;0.995;0.997;0.993;0.995	T	0.80336	-0.1425	10	0.87932	D	0	-2.9758	11.5861	0.50918	0.5869:0.4131:0.0:0.0	.	456;350;350;350;350	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	W	350;456;350;350;350;350	ENSP00000386669:R350W;ENSP00000438189:R456W;ENSP00000348066:R350W;ENSP00000367033:R350W;ENSP00000264447:R350W;ENSP00000386433:R350W	ENSP00000264447:R350W	R	+	1	2	ZNF638	71430640	0.426000	0.25506	0.642000	0.29436	0.654000	0.38779	1.015000	0.29963	0.789000	0.33779	-0.181000	0.13052	CGG		0.423	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
EXOC6B	23233	hgsc.bcm.edu	37	2	72945272	72945272	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:72945272C>T	ENST00000272427.6	-	6	759	c.629G>A	c.(628-630)cGc>cAc	p.R210H	EXOC6B_ENST00000410104.1_Missense_Mutation_p.R210H	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	210					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TGAATGTTTGCGGATGCTCTC	0.423																																																	0			2											133.0	130.0	131.0					2																	72945272		1883	4111	5994	72798780	SO:0001583	missense	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.629G>A	2.37:g.72945272C>T	ENSP00000272427:p.Arg210His		72798780	B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300842	0.95601	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.32753	1.44;1.44	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.976;0.999	T	0.69146	-0.5222	10	0.87932	D	0	.	18.2035	0.89847	0.0:1.0:0.0:0.0	.	210;210	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	H	210	ENSP00000272427:R210H;ENSP00000386698:R210H	ENSP00000272427:R210H	R	-	2	0	EXOC6B	72798780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	CGC		0.423	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570	
ALMS1	7840	hgsc.bcm.edu	37	2	73677074	73677074	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:73677074C>A	ENST00000264448.6	+	8	3528	c.3417C>A	c.(3415-3417)acC>acA	p.T1139T	ALMS1_ENST00000409009.1_Silent_p.T1097T|ALMS1_ENST00000377715.1_Silent_p.T1139T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1139	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAACTGTAACCTCAACTTCCT	0.483																																																	0			2											153.0	150.0	151.0					2																	73677074		1864	4113	5977	73530582	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3417C>A	2.37:g.73677074C>A			73530582	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.483	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
SMYD1	150572	hgsc.bcm.edu	37	2	88383972	88383972	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:88383972C>G	ENST00000419482.2	+	2	360	c.275C>G	c.(274-276)gCc>gGc	p.A92G	MIR4780_ENST00000584268.1_RNA|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.A92G|SMYD1_ENST00000438570.1_Missense_Mutation_p.A92G	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	92	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAATGTTCGGCCATCAAGAGA	0.537																																																	0			2											98.0	83.0	88.0					2																	88383972		2203	4300	6503	88165087	SO:0001583	missense	150572			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.275C>G	2.37:g.88383972C>G	ENSP00000393453:p.Ala92Gly		88165087	A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529922	0.85706	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.14516	2.5;2.5;2.5	5.63	5.63	0.86233	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	L	0.54965	1.715	0.80722	D	1	D;D	0.59357	0.969;0.985	P;P	0.58820	0.846;0.797	T	0.00254	-1.1874	10	0.49607	T	0.09	-17.6667	18.6665	0.91492	0.0:1.0:0.0:0.0	.	92;92	Q8NB12;C9JUP3	SMYD1_HUMAN;.	G	92	ENSP00000393453:A92G;ENSP00000407888:A92G;ENSP00000387482:A92G	ENSP00000393453:A92G	A	+	2	0	SMYD1	88165087	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.441000	0.80485	2.655000	0.90218	0.555000	0.69702	GCC		0.537	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915	
TEX37	200523	hgsc.bcm.edu	37	2	88828791	88828791	+	Silent	SNP	C	C	T	rs151127650	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:88828791C>T	ENST00000303254.3	+	4	484	c.342C>T	c.(340-342)caC>caT	p.H114H		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	114						nucleus (GO:0005634)											CAGCTTCCCACGATCTGCACC	0.602													C|||	8	0.00159744	0.0061	0.0	5008	,	,		19817	0.0		0.0	False		,,,				2504	0.0																0			2						C		18,4388	25.3+/-52.1	0,18,2185	130.0	118.0	122.0		342	-8.2	0.0	2	dbSNP_134	122	0,8600		0,0,4300	yes	coding-synonymous	C2orf51	NM_152670.2		0,18,6485	TT,TC,CC		0.0,0.4085,0.1384		114/181	88828791	18,12988	2203	4300	6503	88609906	SO:0001819	synonymous_variant	200523			AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.342C>T	2.37:g.88828791C>T			88609906		Silent	SNP	ENST00000303254.3	37	CCDS2003.1																																																																																				0.602	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670	
ADRA2B	151	hgsc.bcm.edu	37	2	96780980	96780980	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:96780980C>T	ENST00000409345.3	-	1	1004	c.909G>A	c.(907-909)gaG>gaA	p.E303E		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	303	Asp/Glu-rich (acidic).				activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	Actcttcctcctcctcctcct	0.652																																																	0			2											11.0	15.0	14.0					2																	96780980		2105	4196	6301	96144707	SO:0001819	synonymous_variant	151			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.909G>A	2.37:g.96780980C>T			96144707	Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	CCDS56129.1																																																																																				0.652	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1		
TGFBRAP1	9392	hgsc.bcm.edu	37	2	105886127	105886127	+	Missense_Mutation	SNP	C	C	T	rs199861425		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:105886127C>T	ENST00000393359.2	-	11	2434	c.2008G>A	c.(2008-2010)Gcc>Acc	p.A670T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A670T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	670					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGCAGGATGGCGCTCTCCATG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17125	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(183;794 2019 9730 21801 48859)												0			2						C	THR/ALA,THR/ALA	1,4405		0,1,2202	20.0	21.0	21.0		2008,2008	5.2	1.0	2		21	0,8600		0,0,4300	no	missense,missense	TGFBRAP1	NM_001142621.1,NM_004257.4	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	670/861,670/861	105886127	1,13005	2203	4300	6503	105252559	SO:0001583	missense	9392			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2008G>A	2.37:g.105886127C>T	ENSP00000377027:p.Ala670Thr		105252559	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	33	5.237625	0.95240	2.27E-4	0.0	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.19806	2.12;2.12	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.66948	-0.5794	10	0.56958	D	0.05	-28.7463	18.6511	0.91430	0.0:1.0:0.0:0.0	.	125;670	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	T	670;670;125	ENSP00000377027:A670T;ENSP00000258449:A670T	ENSP00000258449:A670T	A	-	1	0	TGFBRAP1	105252559	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.487000	0.81328	2.423000	0.82170	0.462000	0.41574	GCC		0.652	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	
ST6GAL2	84620	hgsc.bcm.edu	37	2	107460162	107460162	+	Missense_Mutation	SNP	G	G	A	rs80079355	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:107460162G>A	ENST00000409382.3	-	2	882	c.272C>T	c.(271-273)gCg>gTg	p.A91V	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.A91V|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.A91V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	91					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCCAGGCCCCGCATGAAAGGA	0.622													G|||	254	0.0507188	0.1755	0.0216	5008	,	,		14128	0.005		0.002	False		,,,				2504	0.0																0			2						G	VAL/ALA,VAL/ALA,VAL/ALA	611,3739		41,529,1605	30.0	36.0	34.0		272,272,272	-1.4	0.0	2	dbSNP_131	34	18,8526		0,18,4254	yes	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	64,64,64	41,547,5859	AA,AG,GG		0.2107,14.046,4.8782	benign,benign,benign	91/530,91/467,91/530	107460162	629,12265	2175	4272	6447	106826594	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.272C>T	2.37:g.107460162G>A	ENSP00000386942:p.Ala91Val		106826594	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	106	0.048534798534798536	91	0.18495934959349594	8	0.022099447513812154	6	0.01048951048951049	1	0.0013192612137203166	G	10.52	1.374099	0.24857	0.14046	0.002107	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.29655	2.56;2.56;1.56	5.35	-1.35	0.09114	.	1.615520	0.03144	N	0.166966	T	0.00039	0.0001	N	0.08118	0	0.80722	P	0.0	B;B	0.20261	0.043;0.001	B;B	0.08055	0.003;0.001	T	0.13124	-1.0521	9	0.05525	T	0.97	-0.9807	5.443	0.16519	0.3548:0.2384:0.4068:0.0	.	91;91	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	V	91	ENSP00000355273:A91V;ENSP00000386942:A91V;ENSP00000387332:A91V	ENSP00000355273:A91V	A	-	2	0	ST6GAL2	106826594	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.979000	0.03774	-0.003000	0.14444	-0.150000	0.13652	GCG		0.622	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
TMEM87B	84910	hgsc.bcm.edu	37	2	112847235	112847235	+	Silent	SNP	C	C	T	rs547196638		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:112847235C>T	ENST00000283206.4	+	10	1341	c.972C>T	c.(970-972)atC>atT	p.I324I	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	324						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ACCGGGTGATCGGACTGGGGC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19437	0.001		0.0	False		,,,				2504	0.0																0			2											137.0	128.0	131.0					2																	112847235		2203	4300	6503	112563706	SO:0001819	synonymous_variant	84910			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.972C>T	2.37:g.112847235C>T			112563706	A8K2M9|Q1RLN2|Q53R54	Silent	SNP	ENST00000283206.4	37	CCDS33275.1																																																																																				0.438	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824	
FBLN7	129804	hgsc.bcm.edu	37	2	112917331	112917331	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:112917331G>A	ENST00000331203.2	+	2	425	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	FBLN7_ENST00000409667.3_Missense_Mutation_p.A52T|FBLN7_ENST00000409450.3_Missense_Mutation_p.A52T|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409903.1_Missense_Mutation_p.A52T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	52					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GACACGCTTCGCCGAGGGCAT	0.662																																																	0			2											28.0	28.0	28.0					2																	112917331		2203	4299	6502	112633802	SO:0001583	missense	129804				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.154G>A	2.37:g.112917331G>A	ENSP00000331411:p.Ala52Thr		112633802	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	6.352	0.433020	0.12045	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565	T;T;T;T;D	0.82711	-1.46;-1.38;1.44;-1.4;-1.64	5.66	1.27	0.21489	.	0.173163	0.51477	N	0.000093	T	0.64000	0.2559	N	0.05383	-0.06	0.28186	N	0.927965	B;B;B;B	0.21147	0.006;0.004;0.001;0.052	B;B;B;B	0.10450	0.003;0.002;0.001;0.005	T	0.53578	-0.8419	10	0.29301	T	0.29	-20.6785	11.2158	0.48825	0.3134:0.0:0.6866:0.0	.	52;52;52;52	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	T	52;52;52;52;3	ENSP00000331411:A52T;ENSP00000386295:A52T;ENSP00000386822:A52T;ENSP00000387000:A52T;ENSP00000388025:A3T	ENSP00000331411:A52T	A	+	1	0	FBLN7	112633802	0.234000	0.23783	0.999000	0.59377	0.994000	0.84299	0.710000	0.25748	0.336000	0.23639	-0.226000	0.12346	GCC		0.662	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214	
POLR1B	84172	hgsc.bcm.edu	37	2	113309416	113309416	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:113309416C>A	ENST00000263331.5	+	6	1407	c.827C>A	c.(826-828)tCt>tAt	p.S276Y	POLR1B_ENST00000409894.3_Missense_Mutation_p.S276Y|POLR1B_ENST00000417433.2_Missense_Mutation_p.S220Y|POLR1B_ENST00000541869.1_Missense_Mutation_p.S314Y|POLR1B_ENST00000537335.1_Missense_Mutation_p.S65Y	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	276					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GAGGATGATTCTTTCCTTAGG	0.373																																					Ovarian(16;256 576 9537 23969 41147)												0			2											112.0	111.0	112.0					2																	113309416		2203	4300	6503	113025887	SO:0001583	missense	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.827C>A	2.37:g.113309416C>A	ENSP00000263331:p.Ser276Tyr		113025887	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731318	0.89390	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.21	5.21	0.72293	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.053146	0.85682	D	0.000000	T	0.81004	0.4733	M	0.83118	2.625	0.80722	D	1	D;D;B;D	0.76494	0.998;0.999;0.399;0.993	D;D;P;D	0.74674	0.929;0.984;0.577;0.942	D	0.83650	0.0155	10	0.72032	D	0.01	-23.214	17.8986	0.88897	0.0:1.0:0.0:0.0	.	314;276;220;276	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	Y	276;314;276;65;220	ENSP00000263331:S276Y;ENSP00000444136:S314Y;ENSP00000387143:S276Y;ENSP00000437914:S65Y;ENSP00000405358:S220Y	ENSP00000263331:S276Y	S	+	2	0	POLR1B	113025887	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.962000	0.70364	2.604000	0.88044	0.591000	0.81541	TCT		0.373	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014	
DPP10	57628	hgsc.bcm.edu	37	2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:116447456G>A	ENST00000410059.1	+	7	1015	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.V183I|DPP10_ENST00000310323.8_Missense_Mutation_p.V172I|DPP10_ENST00000409163.1_Missense_Mutation_p.V129I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	179						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438																																																	0			2											84.0	91.0	89.0					2																	116447456		2203	4300	6503	116163926	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.535G>A	2.37:g.116447456G>A	ENSP00000386565:p.Val179Ile		116163926	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164856	0.38217	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.44	-2.02	0.07388	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.225321	0.36778	N	0.002414	T	0.22859	0.0552	L	0.55481	1.735	0.24648	N	0.993537	B;B;B;B	0.22800	0.027;0.075;0.034;0.034	B;B;B;B	0.20955	0.013;0.018;0.032;0.022	T	0.33650	-0.9860	10	0.15499	T	0.54	-12.1613	11.1686	0.48558	0.491:0.0:0.509:0.0	.	172;183;175;179	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	179;129;175;183;172;129	ENSP00000386565:V179I;ENSP00000387038:V129I;ENSP00000376854:V175I;ENSP00000376855:V183I;ENSP00000309066:V172I	ENSP00000309066:V172I	V	+	1	0	DPP10	116163926	0.323000	0.24643	0.908000	0.35775	0.965000	0.64279	0.668000	0.25127	-0.308000	0.08792	-0.237000	0.12165	GTC		0.438	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
LCT	3938	hgsc.bcm.edu	37	2	136564710	136564710	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:136564710A>G	ENST00000264162.2	-	9	4171	c.4161T>C	c.(4159-4161)tcT>tcC	p.S1387S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1387	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GATATGCAGCAGAAGCTGCAC	0.567																																																	0			2											123.0	99.0	107.0					2																	136564710		2203	4300	6503	136281180	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4161T>C	2.37:g.136564710A>G			136281180	Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																				0.567	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
RBM43	375287	hgsc.bcm.edu	37	2	152107556	152107556	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:152107556C>T	ENST00000331426.5	-	4	1089	c.938G>A	c.(937-939)tGt>tAt	p.C313Y		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	313							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TAATTGTTCACATGCCCTTTT	0.333																																																	0			2											156.0	151.0	153.0					2																	152107556		2203	4300	6503	151815802	SO:0001583	missense	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.938G>A	2.37:g.152107556C>T	ENSP00000331211:p.Cys313Tyr		151815802	B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846864	0.51164	.	.	ENSG00000184898	ENST00000331426	T	0.52295	0.67	5.48	4.58	0.56647	.	0.488971	0.22393	N	0.060659	T	0.54319	0.1851	L	0.32530	0.975	0.58432	D	0.999999	D	0.69078	0.997	D	0.69654	0.965	T	0.49184	-0.8966	10	0.30078	T	0.28	-1.1375	12.7871	0.57512	0.1693:0.8307:0.0:0.0	.	313	Q6ZSC3	RBM43_HUMAN	Y	313	ENSP00000331211:C313Y	ENSP00000331211:C313Y	C	-	2	0	RBM43	151815802	0.464000	0.25807	0.059000	0.19551	0.006000	0.05464	1.393000	0.34497	1.484000	0.48361	0.655000	0.94253	TGT		0.333	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	
NEB	4703	hgsc.bcm.edu	37	2	152506778	152506778	+	Missense_Mutation	SNP	C	C	T	rs373589529		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:152506778C>T	ENST00000172853.10	-	54	7490	c.7343G>A	c.(7342-7344)cGt>cAt	p.R2448H	NEB_ENST00000409198.1_Missense_Mutation_p.R2448H|NEB_ENST00000427231.2_Missense_Mutation_p.R2448H|NEB_ENST00000397345.3_Missense_Mutation_p.R2448H|NEB_ENST00000603639.1_Missense_Mutation_p.R2448H|NEB_ENST00000604864.1_Missense_Mutation_p.R2448H			P20929	NEBU_HUMAN	nebulin	2448					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGAGGCTGACGATATTTCTT	0.463																																																	0			2						C	HIS/ARG,HIS/ARG,HIS/ARG	1,3839		0,1,1919	159.0	150.0	153.0		7343,7343,7343	5.2	1.0	2		153	0,8262		0,0,4131	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,1,6050	TT,TC,CC		0.0,0.026,0.0083	probably-damaging,probably-damaging,probably-damaging	2448/8526,2448/8526,2448/6670	152506778	1,12101	1920	4131	6051	152215024	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7343G>A	2.37:g.152506778C>T	ENSP00000172853:p.Arg2448His		152215024	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	33	5.255863	0.95336	2.6E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09538	3.0;3.0;3.0;2.97	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.38931	0.1059	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30822	-0.9965	10	0.59425	D	0.04	.	18.7871	0.91960	0.0:1.0:0.0:0.0	.	2448	P20929	NEBU_HUMAN	H	2448	ENSP00000386259:R2448H;ENSP00000380505:R2448H;ENSP00000416578:R2448H;ENSP00000172853:R2448H	ENSP00000172853:R2448H	R	-	2	0	NEB	152215024	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	7.770000	0.85390	2.456000	0.83038	0.650000	0.86243	CGT		0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
TANC1	85461	hgsc.bcm.edu	37	2	160053150	160053150	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:160053150C>T	ENST00000263635.6	+	18	3248	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	TANC1_ENST00000454300.1_Missense_Mutation_p.A898V	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1004					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GGCCAGTGTGCGCTTGTCCAC	0.602																																																	0			2											61.0	65.0	64.0					2																	160053150		2086	4204	6290	159761396	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3011C>T	2.37:g.160053150C>T	ENSP00000263635:p.Ala1004Val		159761396	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487758	0.96323	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70399	-0.48;2.13	6.06	6.06	0.98353	Ankyrin repeat-containing domain (4);	0.049671	0.85682	D	0.000000	D	0.82365	0.5021	L	0.60067	1.865	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.995	D;P;P	0.64410	0.925;0.842;0.846	T	0.82319	-0.0516	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	996;898;1004	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	V	898;1004	ENSP00000396339:A898V;ENSP00000263635:A1004V	ENSP00000263635:A1004V	A	+	2	0	TANC1	159761396	1.000000	0.71417	0.974000	0.42286	0.935000	0.57460	6.042000	0.70996	2.880000	0.98712	0.650000	0.86243	GCG		0.602	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		
LRP2	4036	hgsc.bcm.edu	37	2	170003400	170003400	+	Silent	SNP	G	G	A	rs375138694		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:170003400G>A	ENST00000263816.3	-	69	12945	c.12660C>T	c.(12658-12660)cgC>cgT	p.R4220R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4220				R -> P (in Ref. 3; AAB02882). {ECO:0000305}.	cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCAGGATGTTGCGGTCCTCTC	0.458																																																	0			2						G		1,4405	2.1+/-5.4	0,1,2202	105.0	84.0	91.0		12660	1.7	0.1	2		91	0,8600		0,0,4300	no	coding-synonymous	LRP2	NM_004525.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		4220/4656	170003400	1,13005	2203	4300	6503	169711646	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12660C>T	2.37:g.170003400G>A			169711646	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
PPIG	9360	hgsc.bcm.edu	37	2	170493349	170493349	+	Silent	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:170493349T>C	ENST00000260970.3	+	14	1801	c.1581T>C	c.(1579-1581)agT>agC	p.S527S	PPIG_ENST00000409714.3_Silent_p.S512S|PPIG_ENST00000448752.2_Silent_p.S527S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	527					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AATCAAAGAGTAATGAGCATG	0.333																																																	0			2											56.0	55.0	55.0					2																	170493349		2203	4300	6503	170201595	SO:0001819	synonymous_variant	9360			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1581T>C	2.37:g.170493349T>C			170201595	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	CCDS2235.1																																																																																				0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2		
UBR3	130507	hgsc.bcm.edu	37	2	170843230	170843230	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:170843230T>C	ENST00000272793.5	+	25	3760	c.3710T>C	c.(3709-3711)gTt>gCt	p.V1237A	UBR3_ENST00000418381.1_Missense_Mutation_p.V1237A|UBR3_ENST00000392631.1_Missense_Mutation_p.V58A			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1237					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TATGACTGTGTTATTTGTGGA	0.423																																																	0			2											107.0	105.0	106.0					2																	170843230		2203	4300	6503	170551476	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3710T>C	2.37:g.170843230T>C	ENSP00000272793:p.Val1237Ala		170551476	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	T	26.6	4.756753	0.89843	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631	T;T;T	0.56444	0.85;0.85;0.46	5.27	5.27	0.74061	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	L	0.60455	1.87	0.43360	D	0.995436	D;D;P	0.61697	0.984;0.99;0.924	D;D;P	0.73380	0.956;0.98;0.9	T	0.67043	-0.5770	10	0.38643	T	0.18	.	15.1979	0.73108	0.0:0.0:0.0:1.0	.	1237;58;1237	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	A	1237;1237;1237;58	ENSP00000272793:V1237A;ENSP00000396068:V1237A;ENSP00000376408:V58A	ENSP00000272793:V1237A	V	+	2	0	UBR3	170551476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.679000	0.84048	1.992000	0.58205	0.477000	0.44152	GTT		0.423	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
SCRN3	79634	hgsc.bcm.edu	37	2	175287696	175287696	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:175287696G>A	ENST00000272732.6	+	6	920	c.838G>A	c.(838-840)Gca>Aca	p.A280T	SCRN3_ENST00000409673.3_Missense_Mutation_p.A273T|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	280							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			CCTGACCACTGCAAGCATGGT	0.378																																																	0			2											113.0	112.0	112.0					2																	175287696		2203	4300	6503	174995942	SO:0001583	missense	79634			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.838G>A	2.37:g.175287696G>A	ENSP00000272732:p.Ala280Thr		174995942	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333634	0.95758	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.11063	2.81;2.81	5.16	5.16	0.70880	.	0.051146	0.85682	D	0.000000	T	0.15609	0.0376	M	0.66297	2.02	0.50313	D	0.999861	B;B	0.32939	0.391;0.22	B;B	0.25140	0.058;0.039	T	0.02574	-1.1139	10	0.87932	D	0	-17.1647	18.6679	0.91499	0.0:0.0:1.0:0.0	.	273;280	B4DI11;Q0VDG4	.;SCRN3_HUMAN	T	273;280	ENSP00000387142:A273T;ENSP00000272732:A280T	ENSP00000272732:A280T	A	+	1	0	SCRN3	174995942	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.475000	0.73582	2.420000	0.82092	0.561000	0.74099	GCA		0.378	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583	
HOXD9	3235	hgsc.bcm.edu	37	2	176988295	176988295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:176988295C>T	ENST00000249499.6	+	1	1208	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	267					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCAGCCGCAGCAGCAGCAACT	0.542																																					GBM(47;924 952 7959 9248 12176)												0			2											17.0	17.0	17.0					2																	176988295		2188	4245	6433	176696541	SO:0001587	stop_gained	3235				CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.799C>T	2.37:g.176988295C>T	ENSP00000249499:p.Gln267*		176696541	Q86ST1	Nonsense_Mutation	SNP	ENST00000249499.6	37	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	C	37	6.461883	0.97585	.	.	ENSG00000128709	ENST00000249499	.	.	.	4.91	4.91	0.64330	.	3.234920	0.00941	N	0.002823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.514	0.90928	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000249499:Q267X	Q	+	1	0	HOXD9	176696541	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	5.028000	0.64115	2.418000	0.82041	0.555000	0.69702	CAG		0.542	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4		
OSBPL6	114880	hgsc.bcm.edu	37	2	179214085	179214085	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:179214085G>A	ENST00000190611.4	+	12	1498	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	OSBPL6_ENST00000409631.1_Silent_p.L374L|OSBPL6_ENST00000409045.3_Silent_p.L343L|OSBPL6_ENST00000315022.2_Silent_p.L378L|OSBPL6_ENST00000392505.2_Silent_p.L399L|OSBPL6_ENST00000357080.4_Silent_p.L343L|OSBPL6_ENST00000359685.3_Silent_p.L374L	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	374					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATACAAAGCTGCAAGAAGAAT	0.398																																																	0			2											105.0	108.0	107.0					2																	179214085		2203	4300	6503	178922331	SO:0001819	synonymous_variant	114880			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1122G>A	2.37:g.179214085G>A			178922331	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	CCDS2277.1																																																																																				0.398	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
TTN	7273	hgsc.bcm.edu	37	2	179395463	179395463	+	Silent	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:179395463T>C	ENST00000591111.1	-	308	101180	c.100956A>G	c.(100954-100956)aaA>aaG	p.K33652K	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Silent_p.K26353K|TTN_ENST00000460472.2_Silent_p.K26228K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.K26420K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Silent_p.K35293K|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342992.6_Silent_p.K32725K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33652	Ig-like 148.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCTTCTGCTTTCAGGAACT	0.458																																																	0			2											105.0	100.0	102.0					2																	179395463		1893	4107	6000	179103709	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100956A>G	2.37:g.179395463T>C			179103709	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179464487	179464487	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:179464487G>A	ENST00000591111.1	-	239	51442	c.51218C>T	c.(51217-51219)cCg>cTg	p.P17073L	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9774L|TTN_ENST00000460472.2_Missense_Mutation_p.P9649L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9841L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P18714L|TTN_ENST00000342992.6_Missense_Mutation_p.P16146L			Q8WZ42	TITIN_HUMAN	titin	17073	Ig-like 102.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P16144L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTAGTGTCGGGAATGGCAC	0.408																																																	1	Substitution - Missense(1)	ovary(1)	2											121.0	111.0	114.0					2																	179464487		1867	4104	5971	179172732	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51218C>T	2.37:g.179464487G>A	ENSP00000465570:p.Pro17073Leu		179172732	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.34	2.805555	0.50315	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90817	0.7116	H	0.98048	4.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.93846	0.7141	9	0.87932	D	0	.	19.6238	0.95670	0.0:0.0:1.0:0.0	.	9649;9774;9841;17073	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16146;9649;9841;9774;9647	ENSP00000343764:P16146L;ENSP00000434586:P9649L;ENSP00000340554:P9841L;ENSP00000352154:P9774L	ENSP00000340554:P9841L	P	-	2	0	TTN	179172732	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.793000	0.99091	2.642000	0.89623	0.557000	0.71058	CCG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179485519	179485519	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:179485519T>C	ENST00000591111.1	-	197	41119	c.40895A>G	c.(40894-40896)gAc>gGc	p.D13632G	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6333G|TTN_ENST00000460472.2_Missense_Mutation_p.D6208G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6400G|TTN_ENST00000589042.1_Missense_Mutation_p.D15273G|TTN_ENST00000342992.6_Missense_Mutation_p.D12705G			Q8WZ42	TITIN_HUMAN	titin	13632	Ig-like 92.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGGCTTGGTCATCTAAGTG	0.348																																																	0			2											186.0	183.0	184.0					2																	179485519		1858	4095	5953	179193764	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40895A>G	2.37:g.179485519T>C	ENSP00000465570:p.Asp13632Gly		179193764	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.43	1.936754	0.34189	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92609	0.7652	H	0.94345	3.525	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.94497	0.7706	9	0.87932	D	0	.	16.1968	0.82036	0.0:0.0:0.0:1.0	.	6208;6333;6400;13632	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	12705;6208;6400;6333;6208	ENSP00000343764:D12705G;ENSP00000434586:D6208G;ENSP00000340554:D6400G;ENSP00000352154:D6333G	ENSP00000340554:D6400G	D	-	2	0	TTN	179193764	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.991000	0.88244	2.225000	0.72522	0.533000	0.62120	GAC		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179486228	179486228	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:179486228C>T	ENST00000591111.1	-	195	40624	c.40400G>A	c.(40399-40401)cGa>cAa	p.R13467Q	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6168Q|TTN_ENST00000460472.2_Missense_Mutation_p.R6043Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6235Q|TTN_ENST00000589042.1_Missense_Mutation_p.R15108Q|TTN_ENST00000342992.6_Missense_Mutation_p.R12540Q			Q8WZ42	TITIN_HUMAN	titin	13467	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATCGGTTCGAGAGCTTGG	0.393																																																	0			2											122.0	121.0	121.0					2																	179486228		1997	4159	6156	179194473	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40400G>A	2.37:g.179486228C>T	ENSP00000465570:p.Arg13467Gln		179194473	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	14.00	2.403437	0.42613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62639	0.01;0.22;0.19;0.19	6.17	3.13	0.36017	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.48150	0.1484	L	0.27975	0.815	0.30517	N	0.768792	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.48736	-0.9009	9	0.87932	D	0	.	9.3991	0.38422	0.0:0.6945:0.0:0.3055	.	6043;6168;6235;13467	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12540;6043;6235;6168;6043	ENSP00000343764:R12540Q;ENSP00000434586:R6043Q;ENSP00000340554:R6235Q;ENSP00000352154:R6168Q	ENSP00000340554:R6235Q	R	-	2	0	TTN	179194473	0.990000	0.36364	0.998000	0.56505	0.992000	0.81027	1.711000	0.37930	0.345000	0.23873	0.655000	0.94253	CGA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
NCKAP1	10787	hgsc.bcm.edu	37	2	183848087	183848087	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:183848087C>T	ENST00000361354.4	-	11	1400	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R349H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	343					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R349L(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TAAAAACTTGCGTCTTTCTCT	0.343																																																	1	Substitution - Missense(1)	ovary(1)	2											107.0	103.0	105.0					2																	183848087		2203	4300	6503	183556332	SO:0001583	missense	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1028G>A	2.37:g.183848087C>T	ENSP00000355348:p.Arg343His		183556332	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390589	0.95988	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.57595	0.39;0.39	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.932	T	0.81600	-0.0859	10	0.87932	D	0	-6.3069	18.7206	0.91691	0.0:1.0:0.0:0.0	.	343;349	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	H	343;349	ENSP00000355348:R343H;ENSP00000354251:R349H	ENSP00000354251:R349H	R	-	2	0	NCKAP1	183556332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.417000	0.82017	0.555000	0.69702	CGC		0.343	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
DNAH7	56171	hgsc.bcm.edu	37	2	196651819	196651819	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:196651819A>T	ENST00000312428.6	-	58	10893	c.10793T>A	c.(10792-10794)cTa>cAa	p.L3598Q	DNAH7_ENST00000409063.1_Missense_Mutation_p.L81Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3598	AAA 6. {ECO:0000250}.				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						ATTCCACCCTAGGGGTCCAAA	0.408																																																	0			2											119.0	113.0	115.0					2																	196651819		1936	4156	6092	196360064	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.10793T>A	2.37:g.196651819A>T	ENSP00000311273:p.Leu3598Gln		196360064	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165632	0.78339	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.09630	2.96;2.96	4.34	4.34	0.51931	Dynein heavy chain (1);	0.000000	0.64402	D	0.000007	T	0.31358	0.0794	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.03364	-1.1044	10	0.44086	T	0.13	.	13.6272	0.62173	1.0:0.0:0.0:0.0	.	3598	Q8WXX0	DYH7_HUMAN	Q	3598;81	ENSP00000311273:L3598Q;ENSP00000386912:L81Q	ENSP00000311273:L3598Q	L	-	2	0	DNAH7	196360064	1.000000	0.71417	0.995000	0.50966	0.709000	0.40893	8.963000	0.93385	1.936000	0.56123	0.454000	0.30748	CTA		0.408	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
HECW2	57520	hgsc.bcm.edu	37	2	197183694	197183694	+	Silent	SNP	G	G	A	rs370830289		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:197183694G>A	ENST00000260983.3	-	9	2102	c.1920C>T	c.(1918-1920)tgC>tgT	p.C640C	HECW2_ENST00000409111.1_Silent_p.C284C	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	640					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGCTGTCAGCGCATTCCAGGT	0.587																																																	0			2											98.0	75.0	83.0					2																	197183694		2203	4300	6503	196891939	SO:0001819	synonymous_variant	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1920C>T	2.37:g.197183694G>A			196891939	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																				0.587	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
NBEAL1	65065	hgsc.bcm.edu	37	2	203972179	203972179	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:203972179C>T	ENST00000449802.1	+	12	1552	c.1219C>T	c.(1219-1221)Ctt>Ttt	p.L407F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	407										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TACACATATGCTTGAAGTATT	0.303																																																	0			2											78.0	72.0	74.0					2																	203972179		692	1589	2281	203680424	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.1219C>T	2.37:g.203972179C>T	ENSP00000399903:p.Leu407Phe		203680424	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	2.313	-0.357441	0.05138	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.60548	0.18	5.54	4.38	0.52667	Armadillo-type fold (1);	.	.	.	.	T	0.27027	0.0662	N	0.02225	-0.63	0.27351	N	0.956235	B	0.02656	0.0	B	0.01281	0.0	T	0.18935	-1.0321	9	0.06625	T	0.88	.	8.8524	0.35208	0.0:0.1456:0.0:0.8544	.	407	Q6ZS30	NBEL1_HUMAN	F	407	ENSP00000399903:L407F	ENSP00000344985:L407F	L	+	1	0	NBEAL1	203680424	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.831000	0.62752	1.048000	0.40298	-0.351000	0.07748	CTT		0.303	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
VIL1	7429	hgsc.bcm.edu	37	2	219296776	219296776	+	Missense_Mutation	SNP	G	G	A	rs369865042		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:219296776G>A	ENST00000248444.5	+	12	1299	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	VIL1_ENST00000392114.2_Missense_Mutation_p.R93H	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	404	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGGTGTGGCGCATTGAGAAC	0.602																																																	0			2						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	82.0	89.0		1211	5.0	1.0	2		89	0,8600		0,0,4300	no	missense	VIL1	NM_007127.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	404/828	219296776	1,13005	2203	4300	6503	219005020	SO:0001583	missense	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1211G>A	2.37:g.219296776G>A	ENSP00000248444:p.Arg404His		219005020	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541636	0.65085	2.27E-4	0.0	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.15834	2.39;2.39	5.03	5.03	0.67393	.	0.068810	0.52532	D	0.000068	T	0.54565	0.1866	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68311	-0.5442	10	0.66056	D	0.02	-16.6743	18.3616	0.90376	0.0:0.0:1.0:0.0	.	404	P09327	VILI_HUMAN	H	404;93	ENSP00000248444:R404H;ENSP00000375962:R93H	ENSP00000248444:R404H	R	+	2	0	VIL1	219005020	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	9.860000	0.99555	2.351000	0.79841	0.561000	0.74099	CGC		0.602	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127	
ATG9A	79065	hgsc.bcm.edu	37	2	220085973	220085973	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:220085973G>A	ENST00000409618.1	-	14	2636	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	ATG9A_ENST00000409422.1_Missense_Mutation_p.R672W|ABCB6_ENST00000265316.3_5'Flank|ATG9A_ENST00000396761.2_Missense_Mutation_p.R733W|ABCB6_ENST00000439002.2_5'Flank|ATG9A_ENST00000361242.4_Missense_Mutation_p.R733W|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	733					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACTCTCCCGGCGGTGCCAT	0.637																																																	0			2											18.0	20.0	19.0					2																	220085973		1928	4124	6052	219794217	SO:0001583	missense	79065			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.2197C>T	2.37:g.220085973G>A	ENSP00000386710:p.Arg733Trp		219794217	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080836	0.76528	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.3	5.3	0.74995	.	0.134893	0.52532	D	0.000071	T	0.64405	0.2595	L	0.36672	1.1	0.49915	D	0.999833	D	0.61697	0.99	B	0.41299	0.353	T	0.70722	-0.4794	10	0.66056	D	0.02	-15.5601	19.1489	0.93479	0.0:0.0:1.0:0.0	.	733	Q7Z3C6	ATG9A_HUMAN	W	733;733;733;672	ENSP00000379983:R733W;ENSP00000386710:R733W;ENSP00000355173:R733W;ENSP00000386535:R672W	ENSP00000355173:R733W	R	-	1	2	ATG9A	219794217	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.294000	0.78760	2.757000	0.94681	0.591000	0.81541	CGG		0.637	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	
STK11IP	114790	hgsc.bcm.edu	37	2	220470776	220470776	+	Missense_Mutation	SNP	C	C	T	rs145811191		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:220470776C>T	ENST00000456909.1	+	9	934	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Missense_Mutation_p.R293C			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	293					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGAGCTCCGCAAGGTGAG	0.607											OREG0003992	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0			2											23.0	29.0	27.0					2																	220470776		2144	4268	6412	220179020	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.844C>T	2.37:g.220470776C>T	ENSP00000389383:p.Arg282Cys	2267	220179020	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37		.	.	.	.	.	.	.	.	.	.	C	15.96	2.985992	0.53934	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.24908	1.83;1.83	4.9	4.03	0.46877	.	0.381149	0.27522	N	0.018998	T	0.50000	0.1590	M	0.80982	2.52	0.41643	D	0.989082	P;P;P;D	0.89917	0.617;0.537;0.617;1.0	B;B;B;D	0.72075	0.048;0.034;0.048;0.976	T	0.55528	-0.8127	10	0.87932	D	0	-6.5791	10.7562	0.46239	0.0:0.9086:0.0:0.0914	.	293;293;293;293	B4DUE4;B4DII2;Q8N1F8-2;Q8N1F8	.;.;.;S11IP_HUMAN	C	282;293;293	ENSP00000389383:R282C;ENSP00000295641:R293C	ENSP00000295641:R293C	R	+	1	0	STK11IP	220179020	0.896000	0.30565	1.000000	0.80357	0.871000	0.50021	1.730000	0.38125	1.296000	0.44742	0.655000	0.94253	CGC		0.607	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902	
STK11IP	114790	hgsc.bcm.edu	37	2	220480910	220480910	+	Nonsense_Mutation	SNP	C	C	T	rs202148315		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:220480910C>T	ENST00000456909.1	+	25	3352	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.R1099*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1099					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCCTTGACCGATGAGGGTC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18323	0.0		0.0	False		,,,				2504	0.0																0			2						C	stop/ARG	0,4340		0,0,2170	31.0	35.0	33.0		3295	2.7	1.0	2		33	1,8551		0,1,4275	yes	stop-gained	STK11IP	NM_052902.2		0,1,6445	TT,TC,CC		0.0117,0.0,0.0078		1099/1100	220480910	1,12891	2170	4276	6446	220189154	SO:0001587	stop_gained	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.3262C>T	2.37:g.220480910C>T	ENSP00000389383:p.Arg1088*		220189154	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Nonsense_Mutation	SNP	ENST00000456909.1	37		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	38	6.846000	0.97881	0.0	1.17E-4	ENSG00000144589	ENST00000456909;ENST00000295641	.	.	.	4.51	2.72	0.32119	.	0.158257	0.29558	N	0.011811	.	.	.	.	.	.	0.26801	N	0.969197	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8685	0.24106	0.0:0.791:0.0:0.209	.	.	.	.	X	1088;1099	.	ENSP00000295641:R1099X	R	+	1	2	STK11IP	220189154	0.191000	0.23288	0.951000	0.38953	0.596000	0.36781	0.065000	0.14466	0.546000	0.28920	-0.137000	0.14449	CGA		0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902	
EPHA4	2043	hgsc.bcm.edu	37	2	222365809	222365809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:222365809C>A	ENST00000281821.2	-	4	948	c.907G>T	c.(907-909)Gga>Tga	p.G303*	EPHA4_ENST00000409938.1_Nonsense_Mutation_p.G303*|EPHA4_ENST00000392071.4_Nonsense_Mutation_p.G252*|EPHA4_ENST00000409854.1_Nonsense_Mutation_p.G303*	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	303	Cys-rich.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GAGGTGGCTCCTTCCCAGACA	0.532																																																	0			2											118.0	103.0	108.0					2																	222365809		2203	4300	6503	222074053	SO:0001587	stop_gained	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.907G>T	2.37:g.222365809C>A	ENSP00000281821:p.Gly303*		222074053	A8K2P1|B2R601|B7Z6Q8|Q2M380	Nonsense_Mutation	SNP	ENST00000281821.2	37	CCDS2447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.168126|8.168126	0.98686|0.98686	.|.	.|.	ENSG00000116106|ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071|ENST00000441679	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81103	.|0.4753	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78437	.|-0.2204	.|3	0.59425|.	D|.	0.04|.	.|.	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	303;303;303;252|39	.|.	ENSP00000281821:G303X|.	G|K	-|-	1|3	0|2	EPHA4|EPHA4	222074053|222074053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.487000|7.487000	0.81328|0.81328	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.532	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		
SPHKAP	80309	hgsc.bcm.edu	37	2	228884641	228884641	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:228884641C>A	ENST00000392056.3	-	7	975	c.929G>T	c.(928-930)aGa>aTa	p.R310I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R310I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	310						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACAGCTTCTCTTTTCCACTG	0.418																																																	0			2											207.0	212.0	210.0					2																	228884641		2203	4300	6503	228592885	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.929G>T	2.37:g.228884641C>A	ENSP00000375909:p.Arg310Ile		228592885	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	4.499	0.092515	0.08632	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11821	2.74;2.74	5.6	2.84	0.33178	.	0.770176	0.13127	N	0.411773	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.35375	-0.9791	10	0.34782	T	0.22	.	6.1774	0.20451	0.0:0.6344:0.0:0.3656	.	310;310	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	310	ENSP00000375909:R310I;ENSP00000339886:R310I	ENSP00000339886:R310I	R	-	2	0	SPHKAP	228592885	0.001000	0.12720	0.128000	0.21923	0.002000	0.02628	0.515000	0.22801	0.730000	0.32425	-0.142000	0.14014	AGA		0.418	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
CHRNG	1146	hgsc.bcm.edu	37	2	233408008	233408008	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:233408008G>A	ENST00000389494.3	+	8	850	c.829G>A	c.(829-831)Gcc>Acc	p.A277T	CHRNG_ENST00000389492.3_Missense_Mutation_p.A225T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	277					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	GTGTACCGTCGCCATCAACGT	0.592																																																	0			2											97.0	90.0	93.0					2																	233408008		2203	4300	6503	233116252	SO:0001583	missense	1146			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.829G>A	2.37:g.233408008G>A	ENSP00000374145:p.Ala277Thr		233116252	B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356769	0.82243	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.85861	-2.04;-2.04	5.61	3.6	0.41247	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.190165	0.46442	D	0.000286	T	0.75228	0.3821	N	0.16708	0.43	0.37046	D	0.897359	P;P	0.50617	0.937;0.787	B;P	0.44561	0.225;0.453	T	0.76198	-0.3047	10	0.23891	T	0.37	.	13.4005	0.60881	0.0:0.0:0.5644:0.4356	.	225;277	Q14DU4;P07510	.;ACHG_HUMAN	T	277;277;225	ENSP00000374145:A277T;ENSP00000374143:A225T	ENSP00000374143:A225T	A	+	1	0	CHRNG	233116252	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	3.836000	0.55813	1.353000	0.45828	0.462000	0.41574	GCC		0.592	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199	
PER2	8864	hgsc.bcm.edu	37	2	239162337	239162337	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:239162337G>T	ENST00000254657.3	-	19	2606	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	776					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCTTAGTCCAGGGGCAGCTAA	0.413																																																	0			2											9.0	10.0	10.0					2																	239162337		2005	4148	6153	238827076	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2327C>A	2.37:g.239162337G>T	ENSP00000254657:p.Pro776His		238827076	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587113	0.28268	.	.	ENSG00000132326	ENST00000254657	T	0.12039	2.72	4.2	2.09	0.27110	.	0.236902	0.25063	U	0.033430	T	0.10937	0.0267	L	0.53561	1.675	0.26829	N	0.968626	B;B	0.30741	0.012;0.293	B;B	0.28638	0.007;0.092	T	0.19778	-1.0295	10	0.20046	T	0.44	-5.651	6.5994	0.22693	0.0:0.3741:0.4612:0.1647	.	776;776	B4DH14;O15055	.;PER2_HUMAN	H	776	ENSP00000254657:P776H	ENSP00000254657:P776H	P	-	2	0	PER2	238827076	0.119000	0.22226	0.123000	0.21794	0.585000	0.36419	0.758000	0.26447	0.866000	0.35629	0.655000	0.94253	CCT		0.413	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	
ASB1	51665	hgsc.bcm.edu	37	2	239353021	239353021	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:239353021C>A	ENST00000264607.4	+	4	780	c.533C>A	c.(532-534)cCt>cAt	p.P178H	ASB1_ENST00000409297.1_Missense_Mutation_p.P77H	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	178					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CACCTGACTCCTGATGTCCAG	0.602																																																	0			2											62.0	51.0	55.0					2																	239353021		2203	4300	6503	239017760	SO:0001583	missense	51665			AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.533C>A	2.37:g.239353021C>A	ENSP00000264607:p.Pro178His		239017760	A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820900	0.71028	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	T;T	0.54866	0.55;1.94	5.63	5.63	0.86233	Ankyrin repeat-containing domain (3);	0.699256	0.15056	N	0.283011	T	0.47192	0.1432	N	0.13003	0.285	0.38062	D	0.936097	P	0.42203	0.773	P	0.50791	0.65	T	0.40646	-0.9552	9	.	.	.	.	12.9623	0.58466	0.0:0.9267:0.0:0.0733	.	178	Q9Y576	ASB1_HUMAN	H	178;77	ENSP00000264607:P178H;ENSP00000387025:P77H	.	P	+	2	0	ASB1	239017760	0.167000	0.22975	0.997000	0.53966	0.842000	0.47809	3.459000	0.53021	2.652000	0.90054	0.655000	0.94253	CCT		0.602	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445	
HDAC4	9759	hgsc.bcm.edu	37	2	240024584	240024584	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:240024584G>A	ENST00000345617.3	-	16	2897	c.2106C>T	c.(2104-2106)cgC>cgT	p.R702R	HDAC4_ENST00000543185.1_Silent_p.R286R|HDAC4_ENST00000541256.1_Silent_p.R676R	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	702	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R702R(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTTGCGTCCGCGGATGCACT	0.587																																																	1	Substitution - coding silent(1)	ovary(1)	2											116.0	93.0	101.0					2																	240024584		2203	4300	6503	239689521	SO:0001819	synonymous_variant	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2106C>T	2.37:g.240024584G>A			239689521	Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1																																																																																				0.587	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
ANKMY1	51281	hgsc.bcm.edu	37	2	241463399	241463399	+	Missense_Mutation	SNP	C	C	T	rs141510821	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:241463399C>T	ENST00000272972.3	-	7	1682	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T	ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000391987.1_Missense_Mutation_p.A490T|ANKMY1_ENST00000536462.1_Missense_Mutation_p.A302T|ANKMY1_ENST00000406958.1_Missense_Mutation_p.A251T|ANKMY1_ENST00000405002.1_Missense_Mutation_p.A260T|ANKMY1_ENST00000361678.4_Missense_Mutation_p.A349T|ANKMY1_ENST00000403283.1_Missense_Mutation_p.A428T|ANKMY1_ENST00000405523.3_Missense_Mutation_p.A349T|ANKMY1_ENST00000401804.1_Missense_Mutation_p.A579T|ANKMY1_ENST00000373320.4_Missense_Mutation_p.A260T|ANKMY1_ENST00000373318.2_Missense_Mutation_p.A349T	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	490							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGGGACTGGGCGCTTCTCTCC	0.592																																																	0			2											98.0	89.0	92.0					2																	241463399		2203	4300	6503	241112072	SO:0001583	missense	51281			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1468G>A	2.37:g.241463399C>T	ENSP00000272972:p.Ala490Thr		241112072	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762900	0.69763	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002	T;T;T;T;T;T;T;T;T;T;T	0.75938	1.42;3.36;-0.97;0.69;-0.97;3.02;0.88;-0.98;0.48;0.15;0.95	4.06	4.06	0.47325	Ankyrin repeat-containing domain (1);	0.247388	0.31290	N	0.007901	T	0.79131	0.4394	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.99;0.992;0.974;0.994;0.999	T	0.70107	-0.4963	10	0.72032	D	0.01	-34.0637	12.4117	0.55471	0.0:1.0:0.0:0.0	.	490;302;260;349;251;349;490	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;.;ANKY1_HUMAN	T	349;251;490;349;490;260;428;579;302;349;260	ENSP00000362415:A349T;ENSP00000384555:A251T;ENSP00000272972:A490T;ENSP00000355097:A349T;ENSP00000375847:A490T;ENSP00000362417:A260T;ENSP00000383968:A428T;ENSP00000385887:A579T;ENSP00000444707:A302T;ENSP00000385635:A349T;ENSP00000385145:A260T	ENSP00000272972:A490T	A	-	1	0	ANKMY1	241112072	0.381000	0.25140	0.051000	0.19133	0.040000	0.13550	2.006000	0.40874	2.197000	0.70478	0.491000	0.48974	GCC		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844	
SNED1	25992	hgsc.bcm.edu	37	2	241979558	241979558	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:241979558C>T	ENST00000310397.8	+	7	1112	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	SNED1_ENST00000401884.1_Missense_Mutation_p.A371V|SNED1_ENST00000342631.6_Missense_Mutation_p.A371V|SNED1_ENST00000405547.3_Missense_Mutation_p.A371V|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	371	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like 1.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AATGGCTCTGCGGTGTGTGTG	0.617																																																	0			2											32.0	38.0	36.0					2																	241979558		2133	4248	6381	241628231	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1112C>T	2.37:g.241979558C>T	ENSP00000308893:p.Ala371Val		241628231	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.34|13.34	2.206799|2.206799	0.39003|0.39003	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631;ENST00000420591|ENST00000431690	D;D;D;D;D|.	0.91180|.	-2.8;-2.8;-2.8;-2.8;-2.03|.	4.73|4.73	4.73|4.73	0.59995|0.59995	Follistatin-like, N-terminal (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.119854|.	0.37012|.	N|.	0.002283|.	T|T	0.57548|0.57548	0.2061|0.2061	L|L	0.58669|0.58669	1.825|1.825	0.21147|0.21147	N|N	0.999772|0.999772	P|.	0.52061|.	0.95|.	P|.	0.46076|.	0.503|.	T|T	0.52253|0.52253	-0.8600|-0.8600	10|5	0.37606|.	T|.	0.19|.	.|.	17.3185|17.3185	0.87230|0.87230	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	371|.	Q8TER0|.	SNED1_HUMAN|.	V|W	371;371;371;371;9|29	ENSP00000384871:A371V;ENSP00000386007:A371V;ENSP00000308893:A371V;ENSP00000342992:A371V;ENSP00000394324:A9V|.	ENSP00000308893:A371V|.	A|R	+|+	2|1	0|2	SNED1|SNED1	241628231|241628231	0.989000|0.989000	0.36119|0.36119	0.012000|0.012000	0.15200|0.15200	0.011000|0.011000	0.07611|0.07611	4.082000|4.082000	0.57635|0.57635	2.137000|2.137000	0.66172|0.66172	0.591000|0.591000	0.81541|0.81541	GCG|CGG		0.617	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482	
FARP2	9855	hgsc.bcm.edu	37	2	242350516	242350516	+	Missense_Mutation	SNP	C	C	T	rs555590124		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:242350516C>T	ENST00000264042.3	+	6	649	c.479C>T	c.(478-480)gCg>gTg	p.A160V	FARP2_ENST00000373287.4_Missense_Mutation_p.A160V|FARP2_ENST00000545004.1_Missense_Mutation_p.A160V	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	160	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GACACCACAGCGGCCCTTCTC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19505	0.001		0.0	False		,,,				2504	0.0																0			2											112.0	96.0	101.0					2																	242350516		2203	4300	6503	241999189	SO:0001583	missense	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.479C>T	2.37:g.242350516C>T	ENSP00000264042:p.Ala160Val		241999189	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626218	0.66901	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;T;T	0.80123	-1.34;-1.34;-1.34	5.44	5.44	0.79542	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.134533	0.51477	D	0.000095	D	0.84406	0.5465	M	0.86343	2.81	0.54753	D	0.999989	B;B;B	0.20780	0.048;0.032;0.024	B;B;B	0.17433	0.01;0.017;0.018	T	0.82542	-0.0405	10	0.56958	D	0.05	.	19.2456	0.93901	0.0:1.0:0.0:0.0	.	160;160;160	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	V	160	ENSP00000264042:A160V;ENSP00000443876:A160V;ENSP00000362384:A160V	ENSP00000264042:A160V	A	+	2	0	FARP2	241999189	1.000000	0.71417	0.054000	0.19295	0.906000	0.53458	4.980000	0.63812	2.544000	0.85801	0.655000	0.94253	GCG		0.507	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		
KANK1	23189	hgsc.bcm.edu	37	9	740854	740854	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:740854G>A	ENST00000382303.1	+	13	4268	c.3616G>A	c.(3616-3618)Gcc>Acc	p.A1206T	KANK1_ENST00000382293.3_Missense_Mutation_p.A1048T|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.A1206T	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1206	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GGCGGCCCTCGCCGCTGTGGA	0.498																																																	0			9											127.0	112.0	117.0					9																	740854		2203	4300	6503	730854	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3616G>A	9.37:g.740854G>A	ENSP00000371740:p.Ala1206Thr		730854	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457514	0.63401	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.53206	0.63;0.63;0.63	5.52	5.52	0.82312	Ankyrin repeat-containing domain (3);	0.000000	0.52532	D	0.000070	T	0.58850	0.2151	L	0.28400	0.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.991;0.967;0.994	T	0.53236	-0.8467	10	0.32370	T	0.25	-2.4989	19.8119	0.96549	0.0:0.0:1.0:0.0	.	252;118;1206	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	T	1206;252;1206;1048;184;118	ENSP00000371740:A1206T;ENSP00000371734:A1206T;ENSP00000371730:A1048T	ENSP00000371723:A118T	A	+	1	0	KANK1	730854	1.000000	0.71417	0.221000	0.23827	0.102000	0.19082	9.700000	0.98707	2.756000	0.94617	0.563000	0.77884	GCC		0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
FOCAD	54914	hgsc.bcm.edu	37	9	20874701	20874701	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:20874701C>T	ENST00000380249.1	+	21	2576	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	FOCAD_ENST00000604828.1_3'UTR|FOCAD_ENST00000605086.1_Missense_Mutation_p.P174S|FOCAD_ENST00000338382.6_Missense_Mutation_p.P738S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	738						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.P738A(1)									AATTCCCATTCCTGAAGAGTT	0.368																																																	1	Substitution - Missense(1)	ovary(1)	9											177.0	162.0	167.0					9																	20874701		2203	4300	6503	20864701	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2212C>T	9.37:g.20874701C>T	ENSP00000369599:p.Pro738Ser		20864701	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	4.124	0.021313	0.08006	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.67171	-0.25;-0.25	5.21	2.02	0.26589	Armadillo-type fold (1);	0.434923	0.26525	N	0.023893	T	0.46268	0.1384	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14337	-1.0476	10	0.08599	T	0.76	-18.8689	2.0074	0.03480	0.1345:0.488:0.1314:0.2461	.	738	Q5VW36	K1797_HUMAN	S	738	ENSP00000369599:P738S;ENSP00000344307:P738S	ENSP00000344307:P738S	P	+	1	0	KIAA1797	20864701	0.004000	0.15560	0.255000	0.24374	0.103000	0.19146	0.164000	0.16542	0.618000	0.30179	-0.157000	0.13467	CCT		0.368	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
IFNA1	3439	hgsc.bcm.edu	37	9	21440948	21440948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:21440948C>T	ENST00000276927.1	+	1	509	c.442C>T	c.(442-444)Cga>Tga	p.R148*		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	148					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.R148G(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GAAATACTTCCGAAGAATCAC	0.478																																																	1	Substitution - Missense(1)	ovary(1)	9											31.0	38.0	35.0					9																	21440948		2135	4234	6369	21430948	SO:0001587	stop_gained	3439				CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"""Interferons"""	5417	protein-coding gene	gene with protein product	"""IFN-alpha 1b"", ""interferon alpha 1b"""	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.442C>T	9.37:g.21440948C>T	ENSP00000276927:p.Arg148*		21430948	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Nonsense_Mutation	SNP	ENST00000276927.1	37	CCDS6508.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299895	0.81136	.	.	ENSG00000197919	ENST00000276927	.	.	.	3.12	1.2	0.21068	.	0.522676	0.20658	N	0.088072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	6.5509	0.22433	0.0:0.7352:0.0:0.2648	.	.	.	.	X	148	.	ENSP00000276927:R148X	R	+	1	2	IFNA1	21430948	0.195000	0.23338	0.666000	0.29783	0.610000	0.37248	0.300000	0.19156	0.632000	0.30432	0.536000	0.68110	CGA		0.478	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051902.1	NM_024013	
C9orf72	203228	hgsc.bcm.edu	37	9	27556578	27556578	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:27556578C>T	ENST00000380003.3	-	8	1135	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	358					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GTAAAGCTTTCGTCAGTGTAG	0.403																																																	0			9											117.0	108.0	111.0					9																	27556578		2203	4300	6503	27546578	SO:0001583	missense	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1072G>A	9.37:g.27556578C>T	ENSP00000369339:p.Glu358Lys		27546578	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946044	0.73672	.	.	ENSG00000147894	ENST00000380003	T	0.48522	0.81	5.79	5.79	0.91817	.	0.045975	0.85682	D	0.000000	T	0.41003	0.1140	L	0.44542	1.39	0.80722	D	1	P	0.50710	0.938	B	0.36666	0.23	T	0.30995	-0.9959	9	.	.	.	.	20.0308	0.97536	0.0:1.0:0.0:0.0	.	358	Q96LT7	CI072_HUMAN	K	358	ENSP00000369339:E358K	.	E	-	1	0	C9orf72	27546578	1.000000	0.71417	0.983000	0.44433	0.916000	0.54674	7.487000	0.81328	2.732000	0.93576	0.585000	0.79938	GAA		0.403	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325	
TOPORS	10210	hgsc.bcm.edu	37	9	32543427	32543427	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:32543427C>A	ENST00000360538.2	-	3	1212	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	TOPORS_ENST00000379858.1_Missense_Mutation_p.A301S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	366	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCAAAGGCTGCCATGTTAAAA	0.403																																																	0			9											65.0	68.0	67.0					9																	32543427		2203	4300	6503	32533427	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1096G>T	9.37:g.32543427C>A	ENSP00000353735:p.Ala366Ser		32533427	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	5.343	0.248580	0.10130	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.14266	2.52;2.53	5.93	5.03	0.67393	.	0.131087	0.35436	N	0.003203	T	0.08268	0.0206	N	0.17082	0.46	0.34910	D	0.747428	B	0.30406	0.278	B	0.24974	0.057	T	0.26224	-1.0109	10	0.13108	T	0.6	-8.5287	13.7922	0.63148	0.0:0.9256:0.0:0.0744	.	366	Q9NS56	TOPRS_HUMAN	S	366;301	ENSP00000353735:A366S;ENSP00000369187:A301S	ENSP00000353735:A366S	A	-	1	0	TOPORS	32533427	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.815000	0.55651	1.503000	0.48686	0.655000	0.94253	GCA		0.403	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
NOL6	65083	hgsc.bcm.edu	37	9	33463383	33463383	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:33463383G>A	ENST00000455041.2	-	23	2954	c.2895C>T	c.(2893-2895)cgC>cgT	p.R965R	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1017					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GCGGGATATGGCGAGGAGACA	0.662																																																	0			9											48.0	48.0	48.0					9																	33463383		2203	4300	6503	33453383	SO:0001819	synonymous_variant	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000455041.2:c.2895C>T	9.37:g.33463383G>A			33453383	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000455041.2	37																																																																																					0.662	NOL6-201	KNOWN	basic	protein_coding	protein_coding		NM_022917	
CCIN	881	hgsc.bcm.edu	37	9	36169700	36169700	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:36169700G>T	ENST00000335119.2	+	1	312	c.201G>T	c.(199-201)gaG>gaT	p.E67D		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	67	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCGCTGATGAGCTTTTCATCA	0.527																																																	0			9											101.0	94.0	97.0					9																	36169700		2203	4300	6503	36159700	SO:0001583	missense	881			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.201G>T	9.37:g.36169700G>T	ENSP00000334996:p.Glu67Asp		36159700	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335645	0.41398	.	.	ENSG00000185972	ENST00000335119	T	0.67523	-0.27	5.56	3.7	0.42460	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.53938	D	0.000041	T	0.68979	0.3060	L	0.39326	1.205	0.29905	N	0.824077	D	0.57257	0.979	D	0.71414	0.973	T	0.62511	-0.6839	10	0.21540	T	0.41	.	7.6748	0.28480	0.1961:0.0:0.8039:0.0	.	67	Q13939	CALI_HUMAN	D	67	ENSP00000334996:E67D	ENSP00000334996:E67D	E	+	3	2	CCIN	36159700	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	0.876000	0.28092	0.697000	0.31718	0.462000	0.41574	GAG		0.527	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893	
ZCCHC7	84186	hgsc.bcm.edu	37	9	37304241	37304241	+	Silent	SNP	C	C	T	rs267602236		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:37304241C>T	ENST00000336755.5	+	4	817	c.711C>T	c.(709-711)gcC>gcT	p.A237A	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	237						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ACTATTCAGCCAACAAAAACA	0.383																																																	0			9											97.0	94.0	95.0					9																	37304241		2203	4300	6503	37294241	SO:0001819	synonymous_variant	84186			AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.711C>T	9.37:g.37304241C>T			37294241	B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Silent	SNP	ENST00000336755.5	37	CCDS6608.2																																																																																				0.383	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226	
SPTLC1	10558	hgsc.bcm.edu	37	9	94794788	94794788	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:94794788C>T	ENST00000262554.2	-	15	1386	c.1381G>A	c.(1381-1383)Gcg>Acg	p.A461T		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	461					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	ATGGTGGACGCAGCTCTCTCC	0.562																																																	0			9											178.0	143.0	155.0					9																	94794788		2203	4300	6503	93834609	SO:0001583	missense	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1381G>A	9.37:g.94794788C>T	ENSP00000262554:p.Ala461Thr		93834609	A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799030	0.50208	.	.	ENSG00000090054	ENST00000262554	D	0.91577	-2.87	5.18	4.29	0.51040	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.152438	0.64402	N	0.000018	D	0.86585	0.5968	L	0.47716	1.5	0.80722	D	1	B	0.17465	0.022	B	0.24848	0.056	T	0.81147	-0.1065	10	0.19590	T	0.45	.	12.6055	0.56521	0.0:0.9192:0.0:0.0808	.	461	O15269	SPTC1_HUMAN	T	461	ENSP00000262554:A461T	ENSP00000262554:A461T	A	-	1	0	SPTLC1	93834609	1.000000	0.71417	0.621000	0.29145	0.993000	0.82548	5.734000	0.68580	1.425000	0.47237	0.655000	0.94253	GCG		0.562	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415	
PHF2	5253	hgsc.bcm.edu	37	9	96436063	96436063	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:96436063G>A	ENST00000359246.4	+	18	2912	c.2545G>A	c.(2545-2547)Gct>Act	p.A849T	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	849				A -> T (in Ref. 1; AAD21791). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCTGAAGAGGGCTGCCAAGAA	0.617																																																	0			9											103.0	86.0	92.0					9																	96436063		2203	4300	6503	95475884	SO:0001583	missense	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2545G>A	9.37:g.96436063G>A	ENSP00000352185:p.Ala849Thr		95475884	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	8.344	0.829449	0.16749	.	.	ENSG00000197724	ENST00000359246	T	0.56941	0.43	5.03	-3.26	0.05064	.	0.644956	0.15419	N	0.263345	T	0.22936	0.0554	N	0.08118	0	0.80722	D	1	B;B	0.16603	0.018;0.002	B;B	0.12156	0.007;0.001	T	0.06643	-1.0815	10	0.17369	T	0.5	-5.2194	6.017	0.19608	0.4788:0.2617:0.2595:0.0	.	268;849	Q8N359;O75151	.;PHF2_HUMAN	T	849	ENSP00000352185:A849T	ENSP00000352185:A849T	A	+	1	0	PHF2	95475884	0.994000	0.37717	0.867000	0.34043	0.895000	0.52256	0.543000	0.23237	-0.526000	0.06383	0.561000	0.74099	GCT		0.617	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	
PHF2	5253	hgsc.bcm.edu	37	9	96436080	96436080	+	Silent	SNP	C	C	T	rs201272131	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:96436080C>T	ENST00000359246.4	+	18	2929	c.2562C>T	c.(2560-2562)gtC>gtT	p.V854V	PHF2_ENST00000375376.4_Silent_p.V85V	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	854					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGAACAGTGTCGACCTGGACG	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		19683	0.002		0.0	False		,,,				2504	0.0																0			9											101.0	86.0	92.0					9																	96436080		2203	4300	6503	95475901	SO:0001819	synonymous_variant	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2562C>T	9.37:g.96436080C>T			95475901	Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	CCDS35069.1																																																																																				0.617	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	
PTCH1	5727	hgsc.bcm.edu	37	9	98231216	98231216	+	Silent	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:98231216G>T	ENST00000331920.6	-	14	2366	c.2067C>A	c.(2065-2067)ccC>ccA	p.P689P	PTCH1_ENST00000418258.1_Silent_p.P538P|PTCH1_ENST00000429896.2_Silent_p.P538P|PTCH1_ENST00000421141.1_Silent_p.P538P|PTCH1_ENST00000437951.1_Silent_p.P623P|PTCH1_ENST00000375274.2_Silent_p.P688P|PTCH1_ENST00000430669.2_Silent_p.P623P	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	689					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCACGGTGACGGGCTGCACAG	0.637																																																	0			9											123.0	116.0	118.0					9																	98231216		2203	4300	6503	97271037	SO:0001819	synonymous_variant	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.2067C>A	9.37:g.98231216G>T			97271037	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.637	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
NCBP1	4686	hgsc.bcm.edu	37	9	100420956	100420956	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:100420956C>T	ENST00000375147.3	+	15	1664	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	470					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AGATATTGTTCCTCCTACCTT	0.393																																					Ovarian(36;879 898 2893 44212 50307)												0			9											236.0	203.0	214.0					9																	100420956		2203	4300	6503	99460777	SO:0001583	missense	4686			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1408C>T	9.37:g.100420956C>T	ENSP00000364289:p.Pro470Ser		99460777	B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899740	0.91962	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.56	5.56	0.83823	MIF4G-like, type 1 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.92604	3.325	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.89087	0.3480	9	0.72032	D	0.01	-17.6701	19.5096	0.95135	0.0:1.0:0.0:0.0	.	470	Q09161	NCBP1_HUMAN	S	470	.	ENSP00000364289:P470S	P	+	1	0	NCBP1	99460777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.546000	0.73887	2.781000	0.95711	0.555000	0.69702	CCT		0.393	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
GABBR2	9568	hgsc.bcm.edu	37	9	101216433	101216433	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:101216433C>T	ENST00000259455.2	-	7	1525	c.1066G>A	c.(1066-1068)Ggg>Agg	p.G356R		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	356					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TAGGCGTACCCGTGGAACTTG	0.577																																																	0			9											155.0	132.0	140.0					9																	101216433		2203	4300	6503	100256254	SO:0001583	missense	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1066G>A	9.37:g.101216433C>T	ENSP00000259455:p.Gly356Arg		100256254	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170014	0.94768	.	.	ENSG00000136928	ENST00000259455	D	0.83591	-1.74	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89861	0.4016	10	0.87932	D	0	.	17.5351	0.87827	0.0:1.0:0.0:0.0	.	356	O75899	GABR2_HUMAN	R	356	ENSP00000259455:G356R	ENSP00000259455:G356R	G	-	1	0	GABBR2	100256254	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	7.818000	0.86416	2.751000	0.94390	0.650000	0.86243	GGG		0.577	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
GABBR2	9568	hgsc.bcm.edu	37	9	101470737	101470737	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:101470737G>A	ENST00000259455.2	-	1	742	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	95					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAGTAGGGGCGCAGGAGTGAC	0.677																																																	0			9											46.0	43.0	44.0					9																	101470737		2203	4299	6502	100510558	SO:0001583	missense	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.283C>T	9.37:g.101470737G>A	ENSP00000259455:p.Arg95Cys		100510558	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677975	0.29783	.	.	ENSG00000136928	ENST00000259455	D	0.83837	-1.77	3.14	2.09	0.27110	Extracellular ligand-binding receptor (1);	0.174274	0.25253	U	0.032002	T	0.65004	0.2650	L	0.34521	1.04	0.44816	D	0.997821	P	0.42248	0.774	B	0.25291	0.059	T	0.66172	-0.5990	10	0.46703	T	0.11	.	7.1027	0.25346	0.1619:0.0:0.838:0.0	.	95	O75899	GABR2_HUMAN	C	95	ENSP00000259455:R95C	ENSP00000259455:R95C	R	-	1	0	GABBR2	100510558	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.748000	0.38308	1.605000	0.50152	0.456000	0.33151	CGC		0.677	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
EPB41L4B	54566	hgsc.bcm.edu	37	9	111979393	111979393	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:111979393G>A	ENST00000374566.3	-	16	1959	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	481					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.S481L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAACCGGTCCGAGCTGCTAAG	0.557																																																	1	Substitution - Missense(1)	ovary(1)	9											68.0	68.0	68.0					9																	111979393		2120	4246	6366	111019214	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1442C>T	9.37:g.111979393G>A	ENSP00000363694:p.Ser481Leu		111019214	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702960	0.30232	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.83837	-1.77	5.91	5.91	0.95273	.	0.481175	0.15664	N	0.250746	T	0.74520	0.3727	N	0.24115	0.695	0.80722	D	1	B	0.24426	0.103	B	0.14023	0.01	T	0.68754	-0.5325	10	0.44086	T	0.13	.	15.7986	0.78433	0.0:0.0:1.0:0.0	.	481	Q9H329	E41LB_HUMAN	L	166;481	ENSP00000363694:S481L	ENSP00000262536:S166L	S	-	2	0	EPB41L4B	111019214	0.953000	0.32496	0.822000	0.32727	0.078000	0.17371	2.382000	0.44345	2.793000	0.96121	0.655000	0.94253	TCG		0.557	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
ZNF483	158399	hgsc.bcm.edu	37	9	114289709	114289709	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:114289709G>A	ENST00000309235.5	+	2	192	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	ZNF483_ENST00000374374.3_Missense_Mutation_p.A12T|ZNF483_ENST00000355824.3_Missense_Mutation_p.A12T|ZNF483_ENST00000358151.4_Missense_Mutation_p.A12T	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	12					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(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CAAGATGACAGCCATCTCACC	0.478																																																	0			9											104.0	99.0	101.0					9																	114289709		2203	4300	6503	113329530	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.34G>A	9.37:g.114289709G>A	ENSP00000311679:p.Ala12Thr		113329530	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320868	0.60634	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000374374;ENST00000309235	T;T;T;T	0.05513	5.71;5.66;3.43;3.56	5.55	3.7	0.42460	.	0.326910	0.22360	N	0.061088	T	0.03220	0.0094	N	0.16656	0.425	0.09310	N	1	B;B;B;B	0.32031	0.064;0.029;0.352;0.011	B;B;B;B	0.27170	0.053;0.008;0.077;0.012	T	0.43540	-0.9385	10	0.09338	T	0.73	-2.7258	7.4743	0.27368	0.085:0.0:0.7508:0.1642	.	12;12;12;12	Q6P088;Q5VZN3;Q8NAE1;Q8TF39	.;.;.;ZN483_HUMAN	T	12	ENSP00000350871:A12T;ENSP00000438048:A12T;ENSP00000363494:A12T;ENSP00000311679:A12T	ENSP00000311679:A12T	A	+	1	0	ZNF483	113329530	0.001000	0.12720	0.053000	0.19242	0.996000	0.88848	0.572000	0.23684	0.805000	0.34159	0.609000	0.83330	GCC		0.478	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567	
ZNF483	158399	hgsc.bcm.edu	37	9	114305009	114305009	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:114305009G>T	ENST00000309235.5	+	6	1952	c.1794G>T	c.(1792-1794)caG>caT	p.Q598H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	598					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(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CCCGGCATCAGAGAATTCACA	0.398																																																	0			9											57.0	61.0	59.0					9																	114305009		2203	4300	6503	113344830	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1794G>T	9.37:g.114305009G>T	ENSP00000311679:p.Gln598His		113344830	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684424	0.47991	.	.	ENSG00000173258	ENST00000309235	T	0.18502	2.21	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.161504	0.29822	N	0.011101	T	0.25827	0.0629	L	0.53561	1.675	0.80722	D	1	D	0.59767	0.986	P	0.56088	0.791	T	0.00431	-1.1743	10	0.34782	T	0.22	-12.5621	9.0271	0.36236	0.0:0.0:0.7803:0.2197	.	598	Q8TF39	ZN483_HUMAN	H	598	ENSP00000311679:Q598H	ENSP00000311679:Q598H	Q	+	3	2	ZNF483	113344830	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.935000	0.28924	2.436000	0.82500	0.655000	0.94253	CAG		0.398	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567	
SUSD1	64420	hgsc.bcm.edu	37	9	114820789	114820789	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:114820789G>A	ENST00000374270.3	-	14	2200	c.2028C>T	c.(2026-2028)taC>taT	p.Y676Y	SUSD1_ENST00000374263.3_Silent_p.Y676Y|SUSD1_ENST00000374264.2_Silent_p.Y676Y	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	676						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATTCCCCATAGTACAGCCTGT	0.423																																																	0			9											125.0	111.0	116.0					9																	114820789		2203	4300	6503	113860610	SO:0001819	synonymous_variant	64420			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.2028C>T	9.37:g.114820789G>A			113860610	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	CCDS6783.1																																																																																				0.423	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
COL27A1	85301	hgsc.bcm.edu	37	9	117020870	117020870	+	Missense_Mutation	SNP	G	G	A	rs368823650		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:117020870G>A	ENST00000356083.3	+	28	3582	c.3191G>A	c.(3190-3192)cGt>cAt	p.R1064H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1064	Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAAAGGGACGTCGGGTAAGT	0.617																																																	0			9						G	HIS/ARG	0,4406		0,0,2203	44.0	42.0	43.0		3191	-1.8	0.7	9		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL27A1	NM_032888.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1064/1861	117020870	1,13005	2203	4300	6503	116060691	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3191G>A	9.37:g.117020870G>A	ENSP00000348385:p.Arg1064His		116060691	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172905	0.57584	0.0	1.16E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.94497	-3.44	5.24	-1.75	0.08031	.	.	.	.	.	D	0.88381	0.6421	L	0.38175	1.15	0.23813	N	0.996771	B	0.09022	0.002	B	0.06405	0.002	T	0.74794	-0.3544	9	0.38643	T	0.18	.	5.4014	0.16299	0.17:0.0:0.2605:0.5695	.	1064	Q8IZC6	CORA1_HUMAN	H	1064	ENSP00000348385:R1064H	ENSP00000348385:R1064H	R	+	2	0	COL27A1	116060691	0.025000	0.19082	0.729000	0.30791	0.782000	0.44232	-0.225000	0.09151	-0.737000	0.04824	0.462000	0.41574	CGT		0.617	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
AKNA	80709	hgsc.bcm.edu	37	9	117099535	117099535	+	Silent	SNP	C	C	T	rs375027878		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:117099535C>T	ENST00000307564.4	-	22	4280	c.4119G>A	c.(4117-4119)ccG>ccA	p.P1373P	AKNA_ENST00000374079.4_Silent_p.P318P|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Silent_p.P833P|AKNA_ENST00000374088.3_Silent_p.P1373P|AKNA_ENST00000374075.5_Silent_p.P1292P	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1373					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGGCTGTGGGCGGCCACTTGG	0.662																																																	0			9						C		0,4406		0,0,2203	43.0	47.0	45.0		4119	-2.2	0.0	9		45	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	AKNA	NM_030767.4		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1373/1440	117099535	1,13003	2203	4299	6502	116139356	SO:0001819	synonymous_variant	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4119G>A	9.37:g.117099535C>T			116139356	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	3.630	-0.075806	0.07184	0.0	1.16E-4	ENSG00000106948	ENST00000320310	.	.	.	3.92	-2.15	0.07102	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46721	-0.9171	5	0.87932	D	0	3.4487	6.9188	0.24376	0.0:0.4332:0.2424:0.3244	.	.	.	.	H	384	.	ENSP00000314538:R384H	R	-	2	0	AKNA	116139356	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.252000	0.08806	-0.101000	0.12219	-1.328000	0.01277	CGC		0.662	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
BRINP1	1620	hgsc.bcm.edu	37	9	121930148	121930148	+	Silent	SNP	G	G	A	rs142482414		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:121930148G>A	ENST00000265922.3	-	8	1961	c.1500C>T	c.(1498-1500)taC>taT	p.Y500Y	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	500					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TGGTGTGGACGTAGAGGCGTG	0.567																																																	0			9						G		2,4404	2.1+/-5.4	0,2,2201	280.0	196.0	224.0		1500	-2.6	1.0	9	dbSNP_134	224	0,8600		0,0,4300	no	coding-synonymous	DBC1	NM_014618.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		500/762	121930148	2,13004	2203	4300	6503	120969969	SO:0001819	synonymous_variant	57805			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1500C>T	9.37:g.121930148G>A			120969969	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	CCDS6822.1																																																																																				0.567	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
OR1Q1	158131	hgsc.bcm.edu	37	9	125377563	125377563	+	Missense_Mutation	SNP	G	G	A	rs116701890	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:125377563G>A	ENST00000297913.2	+	1	616	c.547G>A	c.(547-549)Gct>Act	p.A183T	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	183					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A183F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGACCTCTACGCTCTGATGAA	0.488													G|||	39	0.00778754	0.0295	0.0	5008	,	,		22872	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)	9						G	THR/ALA	101,4305	80.4+/-118.8	1,99,2103	168.0	157.0	161.0		547	3.7	0.9	9	dbSNP_132	161	0,8600		0,0,4300	yes	missense	OR1Q1	NM_012364.1	58	1,99,6403	AA,AG,GG		0.0,2.2923,0.7766	benign	183/315	125377563	101,12905	2203	4300	6503	124417384	SO:0001583	missense	158131				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.547G>A	9.37:g.125377563G>A	ENSP00000297913:p.Ala183Thr		124417384	Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	CCDS35125.1	22	0.010073260073260074	22	0.044715447154471545	0	0.0	0	0.0	0	0.0	G	14.00	2.405621	0.42715	0.022923	0.0	ENSG00000165202	ENST00000297913	T	0.00130	8.69	5.57	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.136171	0.34178	N	0.004194	T	0.00039	0.0001	L	0.45352	1.415	0.09310	N	1	P	0.39847	0.691	B	0.34346	0.18	T	0.48456	-0.9034	10	0.22706	T	0.39	-16.5007	15.1948	0.73078	0.0:0.5806:0.4194:0.0	.	183	Q15612	OR1Q1_HUMAN	T	183	ENSP00000297913:A183T	ENSP00000297913:A183T	A	+	1	0	OR1Q1	124417384	0.000000	0.05858	0.903000	0.35520	0.916000	0.54674	0.115000	0.15540	0.878000	0.35920	-0.171000	0.13296	GCT		0.488	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1		
TBC1D13	54662	hgsc.bcm.edu	37	9	131554840	131554840	+	Missense_Mutation	SNP	G	G	A	rs148490755		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:131554840G>A	ENST00000372648.5	+	6	520	c.370G>A	c.(370-372)Gac>Aac	p.D124N	TBC1D13_ENST00000223865.8_Missense_Mutation_p.D124N|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	124	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						GCTGCAGATCGACAAAGATGT	0.597																																																	0			9						G	ASN/ASP	0,4406		0,0,2203	85.0	63.0	71.0		370	4.9	1.0	9	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	TBC1D13	NM_018201.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	124/401	131554840	1,13005	2203	4300	6503	130594661	SO:0001583	missense	54662			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.370G>A	9.37:g.131554840G>A	ENSP00000361731:p.Asp124Asn		130594661	A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	ENST00000372648.5	37	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389028	0.95988	0.0	1.16E-4	ENSG00000107021	ENST00000372648;ENST00000223865	T;T	0.04809	3.55;3.55	4.95	4.95	0.65309	Rab-GAP/TBC domain (3);	0.105878	0.64402	D	0.000006	T	0.13415	0.0325	L	0.42487	1.325	0.80722	D	1	D;D	0.65815	0.995;0.975	D;P	0.66716	0.946;0.691	T	0.25117	-1.0141	10	0.17832	T	0.49	-18.2339	16.7747	0.85548	0.0:0.0:1.0:0.0	.	124;124	Q9NVG8-2;Q9NVG8	.;TBC13_HUMAN	N	124	ENSP00000361731:D124N;ENSP00000223865:D124N	ENSP00000223865:D124N	D	+	1	0	TBC1D13	130594661	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	9.869000	0.99810	2.309000	0.77851	0.561000	0.74099	GAC		0.597	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201	
FAM73B	84895	hgsc.bcm.edu	37	9	131832593	131832593	+	Missense_Mutation	SNP	C	C	T	rs202169772		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:131832593C>T	ENST00000358369.4	+	16	1869	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	548					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TCACTGCCCGCGCTGGCAGAC	0.672													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.0																0			9						C	VAL/ALA	0,4404		0,0,2202	61.0	48.0	53.0		1643	5.7	0.2	9		53	1,8597		0,1,4298	no	missense	FAM73B	NM_032809.2	64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	548/594	131832593	1,13001	2202	4299	6501	130872414	SO:0001583	missense	84895			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1643C>T	9.37:g.131832593C>T	ENSP00000351138:p.Ala548Val		130872414	Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	ENST00000358369.4	37	CCDS6917.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.86	2.362229	0.41902	0.0	1.16E-4	ENSG00000148343	ENST00000358369	T	0.23552	1.9	5.67	5.67	0.87782	.	0.276732	0.35772	N	0.002986	T	0.24699	0.0599	L	0.40543	1.245	0.50632	D	0.999888	P;B	0.49358	0.923;0.35	P;B	0.44518	0.452;0.164	T	0.00839	-1.1545	10	0.37606	T	0.19	.	12.0548	0.53529	0.0:0.9131:0.0:0.0869	.	124;548	Q96NP4;Q7L4E1	.;FA73B_HUMAN	V	548	ENSP00000351138:A548V	ENSP00000351138:A548V	A	+	2	0	FAM73B	130872414	0.905000	0.30787	0.210000	0.23637	0.518000	0.34316	2.271000	0.43364	2.668000	0.90789	0.655000	0.94253	GCG		0.672	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809	
DDX31	64794	hgsc.bcm.edu	37	9	135501082	135501082	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:135501082T>C	ENST00000372159.3	-	17	2148	c.1997A>G	c.(1996-1998)gAt>gGt	p.D666G	DDX31_ENST00000438527.3_Missense_Mutation_p.D537G|DDX31_ENST00000372153.1_Intron	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	666						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTTAAAACAATCATCTCTTGT	0.408																																																	0			9											125.0	121.0	122.0					9																	135501082		2203	4300	6503	134490903	SO:0001583	missense	158067			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1997A>G	9.37:g.135501082T>C	ENSP00000361232:p.Asp666Gly		134490903	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408493	0.62399	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000438527	T;T	0.02579	4.27;4.24	5.87	3.55	0.40652	.	0.292405	0.41294	N	0.000904	T	0.10078	0.0247	M	0.72118	2.19	0.80722	D	1	D	0.63046	0.992	P	0.59825	0.864	T	0.00619	-1.1641	10	0.72032	D	0.01	-6.2493	9.4868	0.38935	0.0:0.1415:0.0:0.8585	.	666	Q9H8H2	DDX31_HUMAN	G	666;666;537	ENSP00000361232:D666G;ENSP00000387730:D537G	ENSP00000361228:D666G	D	-	2	0	DDX31	134490903	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	3.737000	0.55060	0.497000	0.27926	0.529000	0.55759	GAT		0.408	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	
FCN2	2220	hgsc.bcm.edu	37	9	137777132	137777132	+	Missense_Mutation	SNP	G	G	A	rs12684476	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:137777132G>A	ENST00000291744.6	+	5	359	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	FCN2_ENST00000350339.2_Missense_Mutation_p.G79S	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	117	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		G -> S (in dbSNP:rs12684476).		complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CTTCCTGAGCGGCTGGCACAC	0.682													G|||	15	0.00299521	0.0	0.0	5008	,	,		16231	0.0149		0.0	False		,,,				2504	0.0																0			9						G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	62.0	60.0	61.0		349,235	3.6	0.9	9	dbSNP_120	61	0,8600		0,0,4300	yes	missense,missense	FCN2	NM_004108.2,NM_015837.2	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	117/314,79/276	137777132	1,13005	2203	4300	6503	136916953	SO:0001583	missense	2220			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.349G>A	9.37:g.137777132G>A	ENSP00000291744:p.Gly117Ser		136916953	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	CCDS6983.1	13	0.005952380952380952	0	0.0	0	0.0	13	0.022727272727272728	0	0.0	G	18.58	3.654017	0.67472	2.27E-4	0.0	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.36157	1.27;1.27	3.59	3.59	0.41128	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.41097	U	0.000942	T	0.54759	0.1878	H	0.96142	3.775	0.52099	D	0.999946	D;D	0.89917	1.0;1.0	D;D	0.83275	0.952;0.996	T	0.75414	-0.3326	10	0.62326	D	0.03	.	12.6783	0.56908	0.0:0.0:1.0:0.0	rs12684476;rs52823359;rs12684476	79;117	Q15485-2;Q15485	.;FCN2_HUMAN	S	79;117	ENSP00000291741:G79S;ENSP00000291744:G117S	ENSP00000291744:G117S	G	+	1	0	FCN2	136916953	0.985000	0.35326	0.945000	0.38365	0.388000	0.30384	2.790000	0.47821	1.524000	0.49035	0.462000	0.41574	GGC		0.682	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108	
NOTCH1	4851	hgsc.bcm.edu	37	9	139395241	139395241	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:139395241G>A	ENST00000277541.6	-	31	5772	c.5697C>T	c.(5695-5697)aaC>aaT	p.N1899N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1899					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTTCCTCGCTGTTGCCCGTCT	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0			9											26.0	33.0	31.0					9																	139395241		2067	4207	6274	138515062	SO:0001819	synonymous_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5697C>T	9.37:g.139395241G>A			138515062	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																				0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	
ABCA2	20	hgsc.bcm.edu	37	9	139917204	139917204	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:139917204G>A	ENST00000371605.3	-	4	533	c.386C>T	c.(385-387)gCc>gTc	p.A129V	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.A130V|ABCA2_ENST00000265662.5_Missense_Mutation_p.A130V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	129					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGCACTGAGGGCCTCCAGATG	0.692																																																	0			9											13.0	18.0	17.0					9																	139917204		1940	4127	6067	139037025	SO:0001583	missense	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.386C>T	9.37:g.139917204G>A	ENSP00000360666:p.Ala129Val		139037025	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	g	16.30	3.084396	0.55861	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.86956	-2.19;-2.19;-2.19	4.25	4.25	0.50352	.	1.583810	0.04437	U	0.370162	T	0.74581	0.3735	N	0.04508	-0.205	0.25158	N	0.990373	B;P;B	0.35433	0.361;0.501;0.0	B;B;B	0.30646	0.075;0.118;0.001	T	0.65376	-0.6183	10	0.28530	T	0.3	.	11.3361	0.49505	0.094:0.0:0.906:0.0	.	129;159;160	Q9BZC7;E7EU84;E7ETC3	ABCA2_HUMAN;.;.	V	130;129;160;130	ENSP00000265662:A130V;ENSP00000360666:A129V;ENSP00000344155:A130V	ENSP00000265662:A130V	A	-	2	0	ABCA2	139037025	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	4.384000	0.59607	1.921000	0.55644	0.486000	0.48141	GCC		0.692	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606	
SLC34A3	142680	hgsc.bcm.edu	37	9	140127250	140127250	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:140127250G>T	ENST00000538474.1	+	5	543	c.319G>T	c.(319-321)Gac>Tac	p.D107Y	SLC34A3_ENST00000361134.2_Missense_Mutation_p.D107Y	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	107					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGTGGCCGGAGACATCTTCAA	0.647																																																	0			9											100.0	76.0	84.0					9																	140127250		2203	4300	6503	139247071	SO:0001583	missense	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.319G>T	9.37:g.140127250G>T	ENSP00000442397:p.Asp107Tyr		139247071	A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	g	16.73	3.204951	0.58234	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.86097	-2.07;-2.07	3.65	3.65	0.41850	.	0.000000	0.64402	D	0.000017	D	0.91119	0.7204	M	0.74546	2.27	0.45342	D	0.998338	D	0.89917	1.0	D	0.87578	0.998	D	0.92051	0.5648	10	0.72032	D	0.01	-34.3397	13.2753	0.60184	0.0:0.0:1.0:0.0	.	107	Q8N130	NPT2C_HUMAN	Y	107	ENSP00000442397:D107Y;ENSP00000355353:D107Y	ENSP00000355353:D107Y	D	+	1	0	SLC34A3	139247071	1.000000	0.71417	0.989000	0.46669	0.283000	0.27025	6.424000	0.73366	2.046000	0.60703	0.537000	0.68136	GAC		0.647	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877	
TUBB4B	10383	hgsc.bcm.edu	37	9	140137888	140137888	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:140137888G>T	ENST00000340384.4	+	4	1366	c.1218G>T	c.(1216-1218)atG>atT	p.M406I		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	406					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	TGGACGAGATGGAGTTCACCG	0.617																																																	0			9											102.0	99.0	100.0					9																	140137888		2203	4296	6499	139257709	SO:0001583	missense	10383			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.1218G>T	9.37:g.140137888G>T	ENSP00000341289:p.Met406Ile		139257709	A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569898	0.45798	.	.	ENSG00000188229	ENST00000340384	T	0.72615	-0.67	5.57	5.57	0.84162	.	0.049321	0.85682	D	0.000000	T	0.78654	0.4317	M	0.90082	3.085	0.80722	D	1	B	0.14012	0.009	B	0.20955	0.032	T	0.77945	-0.2397	10	0.87932	D	0	.	18.1378	0.89627	0.0:0.0:1.0:0.0	.	406	P68371	TBB4B_HUMAN	I	406	ENSP00000341289:M406I	ENSP00000341289:M406I	M	+	3	0	TUBB2C	139257709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.678000	0.98647	2.625000	0.88918	0.655000	0.94253	ATG		0.617	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088	
EHMT1	79813	hgsc.bcm.edu	37	9	140611267	140611267	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:140611267C>T	ENST00000460843.1	+	3	302	c.275C>T	c.(274-276)gCg>gTg	p.A92V	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.A61V|EHMT1_ENST00000462484.1_Missense_Mutation_p.A92V	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	92					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACTCGGATAGCGGAAAATGGG	0.532																																																	0			9											118.0	119.0	119.0					9																	140611267		2203	4300	6503	139731088	SO:0001583	missense	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.275C>T	9.37:g.140611267C>T	ENSP00000417980:p.Ala92Val		139731088	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	c	15.48	2.845662	0.51164	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.72394	1.42;0.63;-0.65	5.87	4.98	0.66077	.	0.076845	0.53938	D	0.000049	D	0.82499	0.5050	M	0.65975	2.015	0.09310	N	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.992	T	0.76416	-0.2967	10	0.66056	D	0.02	.	15.287	0.73835	0.0:0.9327:0.0:0.0673	.	92;61;92	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	V	61;61;92;92	ENSP00000334476:A61V;ENSP00000417328:A92V;ENSP00000417980:A92V	ENSP00000334476:A61V	A	+	2	0	EHMT1	139731088	0.999000	0.42202	0.004000	0.12327	0.076000	0.17211	5.237000	0.65360	1.508000	0.48769	0.546000	0.68486	GCG		0.532	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	
FLT1	2321	hgsc.bcm.edu	37	13	29001900	29001900	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:29001900A>G	ENST00000282397.4	-	9	1516	c.1265T>C	c.(1264-1266)cTa>cCa	p.L422P	FLT1_ENST00000539099.1_Missense_Mutation_p.L422P|FLT1_ENST00000541932.1_Missense_Mutation_p.L422P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	422			L -> I (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTGACAATTAGAGTGGCAGT	0.353																																																	0			13											140.0	127.0	131.0					13																	29001900		2203	4300	6503	27899900	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1265T>C	13.37:g.29001900A>G	ENSP00000282397:p.Leu422Pro		27899900	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740481	0.69304	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	D;D;D	0.87571	-2.27;-2.27;-2.27	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.96178	0.8754	H	0.97852	4.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97789	1.0237	10	0.87932	D	0	.	16.026	0.80545	1.0:0.0:0.0:0.0	.	422;422;422;422	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	P	422	ENSP00000282397:L422P;ENSP00000437631:L422P;ENSP00000442630:L422P	ENSP00000282397:L422P	L	-	2	0	FLT1	27899900	1.000000	0.71417	0.794000	0.32065	0.746000	0.42486	8.219000	0.89770	2.189000	0.69895	0.528000	0.53228	CTA		0.353	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
BRCA2	675	hgsc.bcm.edu	37	13	32906657	32906657	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:32906657G>A	ENST00000380152.3	+	10	1275	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	BRCA2_ENST00000544455.1_Missense_Mutation_p.V348M			P51587	BRCA2_HUMAN	breast cancer 2, early onset	348					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAAACCAAGTGAAAGAAAA	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			13											98.0	114.0	109.0					13																	32906657		2200	4298	6498	31804657	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1042G>A	13.37:g.32906657G>A	ENSP00000369497:p.Val348Met		31804657	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.054	-1.241707	0.01493	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00711	5.8;5.8	5.6	-6.46	0.01908	.	1.739820	0.02692	N	0.110745	T	0.00412	0.0013	N	0.05280	-0.08	0.09310	N	1	B;P	0.48640	0.013;0.913	B;B	0.37601	0.006;0.254	T	0.51733	-0.8668	10	0.20046	T	0.44	.	3.1194	0.06386	0.2644:0.1165:0.4211:0.198	.	348;348	P51587;A1YBP1	BRCA2_HUMAN;.	M	348;348;346	ENSP00000369497:V348M;ENSP00000439902:V348M	ENSP00000369497:V348M	V	+	1	0	BRCA2	31804657	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.140000	0.10342	-1.292000	0.02366	-1.292000	0.01352	GTG		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	hgsc.bcm.edu	37	13	32945129	32945129	+	Missense_Mutation	SNP	C	C	A	rs80359104		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:32945129C>A	ENST00000380152.3	+	20	8757	c.8524C>A	c.(8524-8526)Cgc>Agc	p.R2842S	BRCA2_ENST00000544455.1_Missense_Mutation_p.R2842S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2842			R -> C (in one patient with esophageal carcinoma; somatic mutation). {ECO:0000269|PubMed:11948123}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.R2842C(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATACATATTTCGCAATGAAAG	0.348			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	1	Substitution - Missense(1)	oesophagus(1)	13											87.0	86.0	86.0					13																	32945129		2203	4300	6503	31843129	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8524C>A	13.37:g.32945129C>A	ENSP00000369497:p.Arg2842Ser		31843129	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864004	0.91511	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.84589	-1.87;-1.87	5.1	5.1	0.69264	Nucleic acid-binding, OB-fold-like (1);Tower (1);	0.062472	0.64402	D	0.000003	D	0.92267	0.7547	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92967	0.6394	10	0.66056	D	0.02	.	18.5217	0.90956	0.0:1.0:0.0:0.0	.	2842	P51587	BRCA2_HUMAN	S	2842	ENSP00000369497:R2842S;ENSP00000439902:R2842S	ENSP00000369497:R2842S	R	+	1	0	BRCA2	31843129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.529000	0.60588	2.373000	0.80994	0.484000	0.47621	CGC		0.348	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
SPERT	220082	hgsc.bcm.edu	37	13	46287374	46287374	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:46287374G>A	ENST00000310521.1	+	3	294	c.214G>A	c.(214-216)Gcg>Acg	p.A72T	SPERT_ENST00000378966.3_Missense_Mutation_p.A36T	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	72						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCTCGCTGCGCGCAGCAGGC	0.652																																																	0			13											30.0	31.0	30.0					13																	46287374		2202	4299	6501	45185375	SO:0001583	missense	220082			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.214G>A	13.37:g.46287374G>A	ENSP00000309189:p.Ala72Thr		45185375	A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	8.728	0.916016	0.17907	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.47869	0.89;0.83	5.1	-2.28	0.06826	.	0.690130	0.12656	N	0.450036	T	0.20455	0.0492	N	0.22421	0.69	0.09310	N	1	P;P	0.39326	0.668;0.668	B;B	0.28465	0.09;0.09	T	0.15378	-1.0439	10	0.56958	D	0.05	.	0.4051	0.00432	0.2059:0.2402:0.1976:0.3563	.	36;72	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	T	72;45;36	ENSP00000309189:A72T;ENSP00000368249:A36T	ENSP00000309189:A72T	A	+	1	0	SPERT	45185375	0.000000	0.05858	0.005000	0.12908	0.142000	0.21351	-0.200000	0.09478	-0.284000	0.09102	0.650000	0.86243	GCG		0.652	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
SPERT	220082	hgsc.bcm.edu	37	13	46287532	46287532	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:46287532C>T	ENST00000310521.1	+	3	452	c.372C>T	c.(370-372)agC>agT	p.S124S	SPERT_ENST00000378966.3_Silent_p.S88S	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	124						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TGCAGCTCAGCGACGAGATGT	0.632																																																	0			13											63.0	67.0	66.0					13																	46287532		2203	4300	6503	45185533	SO:0001819	synonymous_variant	220082			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.372C>T	13.37:g.46287532C>T			45185533	A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	CCDS9399.1																																																																																				0.632	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
HTR2A	3356	hgsc.bcm.edu	37	13	47466708	47466708	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:47466708G>A	ENST00000378688.4	-	2	561	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S	HTR2A_ENST00000543956.1_Missense_Mutation_p.P60S|HTR2A_ENST00000542664.1_Missense_Mutation_p.P144S			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	144					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGCTTGCTCGGCAGAGGCCAC	0.567																																																	0			13											99.0	96.0	97.0					13																	47466708		2203	4300	6503	46364709	SO:0001583	missense	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.430C>T	13.37:g.47466708G>A	ENSP00000367959:p.Pro144Ser		46364709	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885581	0.91814	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.32515	1.45;1.45;1.45	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	L	0.38531	1.155	0.80722	D	1	P;D	0.76494	0.89;0.999	P;D	0.76071	0.749;0.987	T	0.16453	-1.0402	10	0.41790	T	0.15	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	60;144	F5GWE8;P28223	.;5HT2A_HUMAN	S	144;60;144	ENSP00000367959:P144S;ENSP00000441861:P60S;ENSP00000437737:P144S	ENSP00000367959:P144S	P	-	1	0	HTR2A	46364709	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.860000	0.99555	2.937000	0.99478	0.650000	0.86243	CCG		0.567	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621	
KPNA3	3839	hgsc.bcm.edu	37	13	50275977	50275977	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:50275977C>G	ENST00000261667.3	-	17	1939	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	509					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GCTGTTGGATCAAAATTGTAG	0.363																																																	0			13											164.0	181.0	176.0					13																	50275977		2203	4300	6503	49173978	SO:0001583	missense	3839			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1525G>C	13.37:g.50275977C>G	ENSP00000261667:p.Asp509His		49173978	O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737185	0.89482	.	.	ENSG00000102753	ENST00000261667	T	0.29917	1.55	6.17	6.17	0.99709	.	0.042170	0.85682	D	0.000000	T	0.48132	0.1483	M	0.63843	1.955	0.80722	D	1	P	0.37466	0.596	P	0.47470	0.548	T	0.28459	-1.0043	10	0.59425	D	0.04	-13.9303	20.8794	0.99867	0.0:1.0:0.0:0.0	.	509	O00505	IMA3_HUMAN	H	509	ENSP00000261667:D509H	ENSP00000261667:D509H	D	-	1	0	KPNA3	49173978	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.868000	0.63021	2.941000	0.99782	0.655000	0.94253	GAT		0.363	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267	
NEK3	4752	hgsc.bcm.edu	37	13	52707309	52707309	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:52707309C>T	ENST00000400357.2	-	14	2732	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	NEK3_ENST00000339406.3_Missense_Mutation_p.R497Q|NEK3_ENST00000378101.2_Missense_Mutation_p.R497Q|NEK3_ENST00000452082.2_Missense_Mutation_p.R501Q			P51956	NEK3_HUMAN	NIMA-related kinase 3	497					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CCATCCAGCTCGCTTCTTCAG	0.502																																																	0			13											50.0	51.0	51.0					13																	52707309		2068	4231	6299	51605310	SO:0001583	missense	4752			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1439G>A	13.37:g.52707309C>T	ENSP00000383210:p.Arg480Gln		51605310	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360686	0.24598	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.38	2.7	0.31948	.	1.191300	0.06211	N	0.685035	T	0.21186	0.0510	N	0.25890	0.77	0.09310	N	1	B;B;B	0.27971	0.026;0.123;0.196	B;B;B	0.14578	0.003;0.005;0.011	T	0.24621	-1.0155	10	0.27785	T	0.31	.	8.2872	0.31935	0.0:0.7425:0.0:0.2575	.	497;501;474	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	Q	497;497;480;501;474	ENSP00000339429:R497Q;ENSP00000367341:R497Q;ENSP00000383210:R480Q;ENSP00000404197:R501Q;ENSP00000448716:R474Q	ENSP00000339429:R497Q	R	-	2	0	NEK3	51605310	0.105000	0.21958	0.005000	0.12908	0.395000	0.30598	0.854000	0.27791	0.327000	0.23409	-0.244000	0.11960	CGA		0.502	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3		
SLITRK6	84189	hgsc.bcm.edu	37	13	86368484	86368484	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:86368484A>G	ENST00000400286.2	-	2	2758	c.2160T>C	c.(2158-2160)agT>agC	p.S720S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	720					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTTCCAAAAGACTTCTTTGGA	0.393																																																	0			13											293.0	284.0	287.0					13																	86368484		1871	4112	5983	85266485	SO:0001819	synonymous_variant	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2160T>C	13.37:g.86368484A>G			85266485	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	CCDS41903.1																																																																																				0.393	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
DOCK9	23348	hgsc.bcm.edu	37	13	99462522	99462522	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:99462522C>A	ENST00000376460.1	-	47	5234	c.5154G>T	c.(5152-5154)gaG>gaT	p.E1718D	DOCK9_ENST00000339416.2_Missense_Mutation_p.E1719D|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1719	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTGCGCACTGCTCAAGGAGCT	0.522																																																	0			13											125.0	120.0	122.0					13																	99462522		2013	4185	6198	98260523	SO:0001583	missense	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5154G>T	13.37:g.99462522C>A	ENSP00000365643:p.Glu1718Asp		98260523	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.6|20.6|20.6	4.010403|4.010403|4.010403	0.75046|0.75046|0.75046	.|.|.	.|.|.	ENSG00000088387|ENSG00000088387|ENSG00000088387	ENST00000400228|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000451563;ENST00000340449|ENST00000419908	.|T;T;T;T|.	.|0.51325|.	.|2.23;2.33;0.95;0.71|.	5.35|5.35|5.35	0.979|0.979|0.979	0.19745|0.19745|0.19745	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.57154|0.57154|0.57154	0.2034|0.2034|0.2034	L|L|L	0.59436|0.59436|0.59436	1.845|1.845|1.845	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;B;B;B;B;D;B;B|.	.|0.71674|.	.|0.998;0.346;0.126;0.039;0.059;0.958;0.072;0.2|.	.|D;B;B;B;B;P;B;B|.	.|0.75484|.	.|0.986;0.179;0.104;0.191;0.165;0.69;0.079;0.211|.	T|T|T	0.50259|0.50259|0.50259	-0.8849|-0.8849|-0.8849	5|10|5	.|0.56958|.	.|D|.	.|0.05|.	-27.5173|-27.5173|-27.5173	6.8862|6.8862|6.8862	0.24202|0.24202|0.24202	0.0:0.4979:0.1197:0.3824|0.0:0.4979:0.1197:0.3824|0.0:0.4979:0.1197:0.3824	.|.|.	.|1696;438;339;1718;339;1719;388;338|.	.|A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q5JUD8;Q9BZ29;B7Z6G9;F5H1Q4|.	.|.;.;.;.;.;DOCK9_HUMAN;.;.|.	S|D|I	283|1718;1719;1711;1696;1718;626;1719;338;83;339|136	.|ENSP00000365643:E1718D;ENSP00000341086:E1719D;ENSP00000407610:E83D;ENSP00000344702:E339D|.	.|ENSP00000341086:E1719D|.	A|E|S	-|-|-	1|3|2	0|2|0	DOCK9|DOCK9|DOCK9	98260523|98260523|98260523	0.913000|0.913000|0.913000	0.31002|0.31002|0.31002	0.995000|0.995000|0.995000	0.50966|0.50966|0.50966	0.969000|0.969000|0.969000	0.65631|0.65631|0.65631	0.023000|0.023000|0.023000	0.13533|0.13533|0.13533	0.220000|0.220000|0.220000	0.20860|0.20860|0.20860	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCA|GAG|AGC		0.522	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
ANKRD10	55608	hgsc.bcm.edu	37	13	111545497	111545497	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:111545497T>C	ENST00000267339.2	-	4	703	c.569A>G	c.(568-570)aAc>aGc	p.N190S	ANKRD10_ENST00000310847.4_Silent_p.*221*|ANKRD10-IT1_ENST00000426991.1_RNA|ANKRD10_ENST00000489973.2_5'UTR|ANKRD10_ENST00000375758.5_Silent_p.*221*	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	190								p.N190S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GATGCCATTGTTATAGAAATG	0.428																																																	1	Substitution - Missense(1)	central_nervous_system(1)	13											127.0	127.0	127.0					13																	111545497		2203	4300	6503	110343498	SO:0001583	missense	55608			AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.569A>G	13.37:g.111545497T>C	ENSP00000267339:p.Asn190Ser		110343498	Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	T	0.372	-0.933221	0.02359	.	.	ENSG00000088448	ENST00000267339	T	0.52754	0.65	5.67	-5.51	0.02568	Ankyrin repeat-containing domain (1);	0.950216	0.08927	N	0.873485	T	0.19846	0.0477	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27571	-1.0070	10	0.18710	T	0.47	0.0706	7.7453	0.28864	0.0:0.2932:0.4296:0.2772	.	190	Q9NXR5	ANR10_HUMAN	S	190	ENSP00000267339:N190S	ENSP00000267339:N190S	N	-	2	0	ANKRD10	110343498	0.013000	0.17824	0.000000	0.03702	0.656000	0.38851	0.431000	0.21444	-0.480000	0.06803	-0.290000	0.09829	AAC		0.428	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1		
ADARB2	105	hgsc.bcm.edu	37	10	1230914	1230914	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:1230914C>A	ENST00000381312.1	-	9	2255	c.1930G>T	c.(1930-1932)Ggc>Tgc	p.G644C	ADARB2_ENST00000381305.1_Missense_Mutation_p.G46C|ADARB2_ENST00000381310.3_Missense_Mutation_p.G153C	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	644	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCGCGCTGCCCACGACCCAG	0.677																																																	0			10											40.0	38.0	38.0					10																	1230914		2203	4299	6502	1220914	SO:0001583	missense	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1930G>T	10.37:g.1230914C>A	ENSP00000370713:p.Gly644Cys		1220914	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499134	0.64298	.	.	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.94497	-3.44;-3.44;-3.44	4.81	4.81	0.61882	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	M	0.87758	2.905	0.80722	D	1	D;P;D	0.89917	0.99;0.891;1.0	D;P;D	0.91635	0.936;0.821;0.999	D	0.98576	1.0648	10	0.87932	D	0	-33.5067	17.8992	0.88898	0.0:1.0:0.0:0.0	.	644;46;153	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	C	644;153;46	ENSP00000370713:G644C;ENSP00000370711:G153C;ENSP00000370706:G46C	ENSP00000370706:G46C	G	-	1	0	ADARB2	1220914	1.000000	0.71417	0.860000	0.33809	0.084000	0.17831	5.983000	0.70540	2.220000	0.72140	0.561000	0.74099	GGC		0.677	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
IL2RA	3559	hgsc.bcm.edu	37	10	6063498	6063498	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:6063498T>C	ENST00000379959.3	-	4	699	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Missense_Mutation_p.R176G	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	176	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGGGTCCACCTTGTCTTCCCG	0.557																																																	0			10											199.0	176.0	184.0					10																	6063498		2203	4300	6503	6103504	SO:0001583	missense	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.526A>G	10.37:g.6063498T>C	ENSP00000369293:p.Arg176Gly		6103504	Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	T	9.953	1.220819	0.22457	.	.	ENSG00000134460	ENST00000379959;ENST00000256876	T;T	0.64803	-0.12;-0.12	4.41	0.63	0.17693	Complement control module (2);Sushi/SCR/CCP (3);	0.683107	0.13866	N	0.357333	T	0.46678	0.1405	L	0.47716	1.5	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.25745	-1.0123	10	0.23891	T	0.37	-36.2391	3.5929	0.07995	0.0:0.2095:0.1961:0.5944	.	176	P01589	IL2RA_HUMAN	G	176	ENSP00000369293:R176G;ENSP00000256876:R176G	ENSP00000256876:R176G	R	-	1	2	IL2RA	6103504	0.000000	0.05858	0.003000	0.11579	0.064000	0.16182	-0.138000	0.10374	0.265000	0.21872	0.528000	0.53228	AGG		0.557	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417	
PRKCQ	5588	hgsc.bcm.edu	37	10	6540492	6540492	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:6540492C>A	ENST00000263125.5	-	5	507	c.408G>T	c.(406-408)acG>acT	p.T136T	PRKCQ_ENST00000397176.2_Silent_p.T136T|PRKCQ_ENST00000539722.1_Silent_p.T11T	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	136					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	AGAAGCCTTCCGTCTCAAATT	0.517																																					Ovarian(50;572 1126 10530 25349 30594)												0			10											169.0	142.0	151.0					10																	6540492		2203	4300	6503	6580498	SO:0001819	synonymous_variant	5588			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.408G>T	10.37:g.6540492C>A			6580498	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	CCDS7079.1																																																																																				0.517	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	
GATA3	2625	hgsc.bcm.edu	37	10	8115750	8115750	+	Silent	SNP	C	C	A	rs104894164		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:8115750C>A	ENST00000346208.3	+	6	1551	c.1096C>A	c.(1096-1098)Cga>Aga	p.R366R	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.R367R			P23771	GATA3_HUMAN	GATA binding protein 3	366			R -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:17224074}.		anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.R367*(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GACCAGAAACCGAAAAATGTC	0.413			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Substitution - Nonsense(1)	breast(1)	10	GRCh37	CM011940	GATA3	M	rs104894164						57.0	62.0	60.0					10																	8115750		2203	4300	6503	8155756	SO:0001819	synonymous_variant	2625			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1096C>A	10.37:g.8115750C>A			8155756	Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	CCDS7083.1																																																																																				0.413	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295	
PROSER2	254427	hgsc.bcm.edu	37	10	11908747	11908747	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:11908747A>G	ENST00000277570.5	+	3	510	c.356A>G	c.(355-357)gAa>gGa	p.E119G	PROSER2_ENST00000379200.1_5'Flank|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000474155.1_3'UTR	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	119																	GGCGCCGGGGAAGCCGAGGGC	0.632																																																	0			10											31.0	31.0	31.0					10																	11908747		2203	4300	6503	11948753	SO:0001583	missense	254427			BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.356A>G	10.37:g.11908747A>G	ENSP00000277570:p.Glu119Gly		11948753	D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Missense_Mutation	SNP	ENST00000277570.5	37	CCDS7085.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.657979	0.67586	.	.	ENSG00000148426	ENST00000379208;ENST00000277570;ENST00000379202	T	0.07114	3.22	5.34	4.17	0.49024	.	0.474225	0.21001	N	0.081867	T	0.11922	0.0290	L	0.49126	1.545	0.35781	D	0.821642	P	0.46784	0.884	P	0.45377	0.478	T	0.11155	-1.0599	10	0.87932	D	0	-28.4284	10.5026	0.44815	0.8371:0.1629:0.0:0.0	.	119	Q86WR7	CJ047_HUMAN	G	119	ENSP00000277570:E119G	ENSP00000277570:E119G	E	+	2	0	C10orf47	11948753	0.530000	0.26330	0.215000	0.23724	0.008000	0.06430	2.321000	0.43805	0.930000	0.37217	0.460000	0.39030	GAA		0.632	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256	
BEND7	222389	hgsc.bcm.edu	37	10	13538824	13538824	+	Silent	SNP	C	C	T	rs568550072		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:13538824C>T	ENST00000396900.2	-	4	512	c.513G>A	c.(511-513)acG>acA	p.T171T	BEND7_ENST00000378605.3_Silent_p.T132T|BEND7_ENST00000396898.2_Silent_p.T184T|BEND7_ENST00000341083.3_Silent_p.T119T			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	171						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGGCCTGCAACGTTGACTGGC	0.413																																																	0			10											140.0	136.0	137.0					10																	13538824		2203	4300	6503	13578830	SO:0001819	synonymous_variant	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.513G>A	10.37:g.13538824C>T			13578830	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37																																																																																					0.413	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751	
FRMD4A	55691	hgsc.bcm.edu	37	10	13743445	13743445	+	Silent	SNP	G	G	A	rs188864146	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:13743445G>A	ENST00000357447.2	-	14	1238	c.870C>T	c.(868-870)agC>agT	p.S290S	FRMD4A_ENST00000378503.1_Silent_p.S290S|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000342409.2_Silent_p.S306S|FRMD4A_ENST00000358621.4_Silent_p.S275S	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	290	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTGCAATGCCGCTGTGCCCAA	0.498													G|||	5	0.000998403	0.0	0.0	5008	,	,		23021	0.004		0.001	False		,,,				2504	0.0																0			10											194.0	164.0	174.0					10																	13743445		2203	4300	6503	13783451	SO:0001819	synonymous_variant	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.870C>T	10.37:g.13743445G>A			13783451	A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	CCDS7101.1																																																																																				0.498	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
CACNB2	783	hgsc.bcm.edu	37	10	18828645	18828645	+	Missense_Mutation	SNP	C	C	T	rs77141223	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:18828645C>T	ENST00000324631.7	+	14	2035	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	CACNB2_ENST00000377319.3_Missense_Mutation_p.R566C|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.R611C|CACNB2_ENST00000377331.2_Missense_Mutation_p.R607C|CACNB2_ENST00000377328.1_Missense_Mutation_p.R409C|CACNB2_ENST00000352115.6_Missense_Mutation_p.R635C|CACNB2_ENST00000282343.8_Missense_Mutation_p.R631C|CACNB2_ENST00000396576.2_Missense_Mutation_p.R604C|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.R605C	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	659				R -> P (in Ref. 2; AAB53332, 3; AAG01473/ AAL16948/AAL16951/AAL16950, 4; AAQ97606/ AAQ97607/AAQ97608/AAQ97609/AAQ97610 and 6; AAL73495). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTTTACATCCGCCAATGAGT	0.408													C|||	5	0.000998403	0.003	0.0	5008	,	,		16461	0.0		0.001	False		,,,				2504	0.0																0			10						C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	13,4389		0,13,2188	57.0	55.0	56.0		1810,1777,1831,1891,1819,1813,1861,1975,1903	5.2	1.0	10	dbSNP_131	56	0,8592		0,0,4296	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNB2	NM_000724.3,NM_001167945.1,NM_201570.2,NM_201571.3,NM_201572.3,NM_201590.2,NM_201593.2,NM_201596.2,NM_201597.2	180,180,180,180,180,180,180,180,180	0,13,6484	TT,TC,CC		0.0,0.2953,0.1	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	604/606,593/595,611/613,631/633,607/609,605/607,621/623,659/661,635/637	18828645	13,12981	2201	4296	6497	18868651	SO:0001583	missense	783			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1975C>T	10.37:g.18828645C>T	ENSP00000320025:p.Arg659Cys		18868651	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	CCDS7125.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	C	16.35	3.099996	0.56183	0.002953	0.0	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.85088	-1.89;-1.86;-1.94;-1.87;-1.87;-1.88;-1.87;-1.88;-1.88	5.17	5.17	0.71159	.	0.352416	0.34067	N	0.004291	D	0.88890	0.6560	L	0.32530	0.975	0.58432	D	0.999998	P;D;D;D;D;D;D;D;D;D;D	0.89917	0.946;1.0;0.992;0.984;0.992;0.987;0.994;0.984;0.997;0.998;0.972	B;D;P;P;P;P;P;P;P;P;B	0.74348	0.333;0.983;0.513;0.59;0.513;0.534;0.724;0.59;0.736;0.857;0.386	D	0.90011	0.4121	10	0.87932	D	0	-14.5433	18.8737	0.92327	0.0:1.0:0.0:0.0	.	573;409;611;605;615;566;607;631;621;635;659	B7Z1U5;A6PVM6;Q5VVH1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	C	659;635;409;631;607;604;566;605;611	ENSP00000320025:R659C;ENSP00000344474:R635C;ENSP00000366545:R409C;ENSP00000282343:R631C;ENSP00000366548:R607C;ENSP00000379821:R604C;ENSP00000366536:R566C;ENSP00000366546:R605C;ENSP00000366532:R611C	ENSP00000282343:R631C	R	+	1	0	CACNB2	18868651	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.380000	0.66202	2.703000	0.92315	0.655000	0.94253	CGC		0.408	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724	
MPP7	143098	hgsc.bcm.edu	37	10	28420579	28420579	+	Silent	SNP	G	G	A	rs145809120		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:28420579G>A	ENST00000375732.1	-	6	616	c.357C>T	c.(355-357)taC>taT	p.Y119Y	MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Silent_p.Y119Y|MPP7_ENST00000445954.2_De_novo_Start_OutOfFrame|MPP7_ENST00000540098.1_Silent_p.Y119Y|MPP7_ENST00000337532.5_Silent_p.Y119Y			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	119	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACACTGGGTCGTAATTCTTCT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		15557	0.0		0.001	False		,,,				2504	0.0																0			10						G		1,4405	2.1+/-5.4	0,1,2202	106.0	97.0	100.0		357	-8.1	0.3	10	dbSNP_134	100	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	MPP7	NM_173496.3		0,13,6490	AA,AG,GG		0.1395,0.0227,0.1		119/577	28420579	13,12993	2203	4300	6503	28460585	SO:0001819	synonymous_variant	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.357C>T	10.37:g.28420579G>A			28460585	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	CCDS7158.1																																																																																				0.353	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496	
WAC	51322	hgsc.bcm.edu	37	10	28900837	28900837	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:28900837T>C	ENST00000354911.4	+	10	1584	c.1423T>C	c.(1423-1425)Tca>Cca	p.S475P	WAC_ENST00000347934.4_Missense_Mutation_p.S372P|WAC_ENST00000375664.4_Missense_Mutation_p.S430P|WAC_ENST00000375646.1_Missense_Mutation_p.S323P	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	475			S -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCCTCCTGTTTCATCACAGCC	0.383																																																	0			10											138.0	114.0	122.0					10																	28900837		2203	4300	6503	28940843	SO:0001583	missense	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1423T>C	10.37:g.28900837T>C	ENSP00000346986:p.Ser475Pro		28940843	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762842	0.69763	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000338396	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.12	5.12	0.69794	.	0.193793	0.45606	D	0.000352	T	0.35799	0.0944	L	0.27053	0.805	0.80722	D	1	P;P;B	0.52316	0.578;0.952;0.442	B;P;B	0.47075	0.264;0.536;0.135	T	0.22103	-1.0226	10	0.72032	D	0.01	-15.5392	10.5959	0.45338	0.1435:0.0:0.0:0.8565	.	430;372;475	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	P	430;323;372;475;38	ENSP00000364816:S430P;ENSP00000364797:S323P;ENSP00000311106:S372P;ENSP00000346986:S475P	ENSP00000341462:S38P	S	+	1	0	WAC	28940843	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.157000	0.50716	2.275000	0.75901	0.528000	0.53228	TCA		0.383	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	
ZEB1	6935	hgsc.bcm.edu	37	10	31809187	31809187	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:31809187A>G	ENST00000320985.10	+	7	1034	c.924A>G	c.(922-924)acA>acG	p.T308T	ZEB1_ENST00000361642.5_Silent_p.T309T|ZEB1_ENST00000446923.2_Silent_p.T292T|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Silent_p.T241T|ZEB1_ENST00000560721.2_Silent_p.T288T			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	308					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GACTCAAGACATCTCAGTGTT	0.453																																					Ovarian(40;423 959 14296 36701 49589)												0			10											134.0	129.0	131.0					10																	31809187		2203	4300	6503	31849193	SO:0001819	synonymous_variant	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.924A>G	10.37:g.31809187A>G			31849193	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	CCDS7169.1																																																																																				0.453	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
ZNF248	57209	hgsc.bcm.edu	37	10	38126605	38126605	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:38126605T>C	ENST00000395867.3	-	5	728	c.178A>G	c.(178-180)Atc>Gtc	p.I60V	ZNF248_ENST00000357328.4_Missense_Mutation_p.I60V|ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000374648.3_Missense_Mutation_p.I60V	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	60	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)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CCTTGCTCGATCTTAAAGATC	0.433																																																	0			10											105.0	93.0	97.0					10																	38126605		2203	4300	6503	38166611	SO:0001583	missense	57209			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.178A>G	10.37:g.38126605T>C	ENSP00000379208:p.Ile60Val		38166611	Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	T	8.932	0.963669	0.18583	.	.	ENSG00000198105	ENST00000395867;ENST00000374648;ENST00000357328;ENST00000395873;ENST00000395874	T;T;T;T;T	0.40756	5.74;1.02;5.74;1.02;1.02	4.74	2.2	0.27929	Krueppel-associated box (3);	0.000000	0.50627	D	0.000104	T	0.20007	0.0481	N	0.10629	0.01	0.28536	N	0.912334	B;P	0.36874	0.041;0.572	B;B	0.34038	0.043;0.174	T	0.12553	-1.0543	10	0.59425	D	0.04	.	8.5136	0.33233	0.3059:0.0:0.0:0.694	.	60;60	Q8NDW4;Q8NDV8	ZN248_HUMAN;.	V	60	ENSP00000379208:I60V;ENSP00000363778:I60V;ENSP00000349882:I60V;ENSP00000379214:I60V;ENSP00000379215:I60V	ENSP00000349882:I60V	I	-	1	0	ZNF248	38166611	0.975000	0.34042	0.996000	0.52242	0.024000	0.10985	0.807000	0.27140	0.920000	0.36970	-0.327000	0.08410	ATC		0.433	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045	
GPRIN2	9721	hgsc.bcm.edu	37	10	46999897	46999897	+	Silent	SNP	G	G	A	rs141986818	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:46999897G>A	ENST00000374317.1	+	3	1290	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	GPRIN2_ENST00000374314.4_Silent_p.A339A	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	339										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GTGTGCAGGCGGCCCCAGTGG	0.647													G|||	87	0.0173722	0.0008	0.0072	5008	,	,		31557	0.0794		0.0	False		,,,				2504	0.001																0			10						G		5,4399		0,5,2197	39.0	44.0	43.0		1017	-9.7	0.0	10	dbSNP_134	43	3,8573		0,3,4285	yes	coding-synonymous	GPRIN2	NM_014696.3		0,8,6482	AA,AG,GG		0.035,0.1135,0.0616		339/459	46999897	8,12972	2202	4288	6490	46419903	SO:0001819	synonymous_variant	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.1017G>A	10.37:g.46999897G>A			46419903	Q5SVF0	Silent	SNP	ENST00000374317.1	37	CCDS31192.1																																																																																				0.647	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
ZNF488	118738	hgsc.bcm.edu	37	10	48371212	48371212	+	Missense_Mutation	SNP	C	C	T	rs138808688		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:48371212C>T	ENST00000395702.2	+	2	907	c.680C>T	c.(679-681)gCt>gTt	p.A227V	ZNF488_ENST00000586537.1_Missense_Mutation_p.A120V|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	227					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCACAGAATGCTCCACTCTGT	0.557																																																	0			10						C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	120.0	114.0	116.0		680	2.6	0.0	10	dbSNP_134	116	0,8600		0,0,4300	no	missense	ZNF488	NM_153034.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	227/341	48371212	1,13005	2203	4300	6503	47991218	SO:0001583	missense	118738			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.680C>T	10.37:g.48371212C>T	ENSP00000379054:p.Ala227Val		47991218	Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	4.877	0.163073	0.09287	2.27E-4	0.0	ENSG00000165388	ENST00000395702	T	0.22134	1.97	5.55	2.59	0.31030	.	0.849249	0.10575	N	0.658637	T	0.19248	0.0462	L	0.51422	1.61	0.09310	N	1	B	0.25719	0.132	B	0.17098	0.017	T	0.19745	-1.0296	10	0.44086	T	0.13	.	8.1138	0.30930	0.0:0.6246:0.0:0.3754	.	227	Q96MN9	ZN488_HUMAN	V	227	ENSP00000379054:A227V	ENSP00000379054:A227V	A	+	2	0	ZNF488	47991218	0.000000	0.05858	0.002000	0.10522	0.419000	0.31324	0.662000	0.25038	0.253000	0.21552	0.561000	0.74099	GCT		0.557	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034	
FRMPD2	143162	hgsc.bcm.edu	37	10	49395324	49395324	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:49395324C>T	ENST00000374201.3	-	17	2479	c.2177G>A	c.(2176-2178)gGc>gAc	p.G726D	FRMPD2_ENST00000305531.3_Missense_Mutation_p.G701D|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G694D	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	726					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGCTCCCGGCCAGTGCAGGG	0.562																																																	0			10											57.0	53.0	54.0					10																	49395324		2203	4300	6503	49065330	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2177G>A	10.37:g.49395324C>T	ENSP00000363317:p.Gly726Asp		49065330	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.248178	0.39697	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.63417	0.0;-0.04;-0.03	4.06	2.21	0.28008	.	.	.	.	.	T	0.42381	0.1200	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13594	0.008;0.003;0.008	B;B;B	0.17433	0.018;0.003;0.018	T	0.25676	-1.0125	9	0.10902	T	0.67	.	6.275	0.20975	0.0:0.7759:0.0:0.2241	.	701;726;694	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	D	726;701;694	ENSP00000363317:G726D;ENSP00000307079:G701D;ENSP00000384339:G694D	ENSP00000307079:G701D	G	-	2	0	FRMPD2	49065330	0.282000	0.24268	0.246000	0.24233	0.901000	0.52897	0.780000	0.26760	0.681000	0.31386	0.655000	0.94253	GGC		0.562	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
WDFY4	57705	hgsc.bcm.edu	37	10	49939318	49939318	+	Silent	SNP	G	G	A	rs186660788		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:49939318G>A	ENST00000325239.5	+	8	1320	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	WDFY4_ENST00000413659.2_Silent_p.S431S|WDFY4_ENST00000360890.2_Silent_p.S431S	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	431						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						AGCCCATCTCGCAGTTTGTAG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20492	0.001		0.0	False		,,,				2504	0.0																0			10											92.0	84.0	86.0					10																	49939318		692	1591	2283	49609324	SO:0001819	synonymous_variant	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1293G>A	10.37:g.49939318G>A			49609324	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Silent	SNP	ENST00000325239.5	37	CCDS44385.1																																																																																				0.557	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
OGDHL	55753	hgsc.bcm.edu	37	10	50954813	50954813	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:50954813C>T	ENST00000374103.4	-	10	1364	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	OGDHL_ENST00000432695.1_Missense_Mutation_p.V218I|OGDHL_ENST00000419399.1_Missense_Mutation_p.V370I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	427					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGACGACGACGTGCACGGTA	0.602																																																	0			10											148.0	98.0	115.0					10																	50954813		2203	4300	6503	50624819	SO:0001583	missense	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1279G>A	10.37:g.50954813C>T	ENSP00000363216:p.Val427Ile		50624819	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.828916	0.00584	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.96365	2.52;2.52;-3.99	5.76	0.112	0.14623	Dehydrogenase, E1 component (1);	0.359209	0.28977	N	0.013532	D	0.86644	0.5982	N	0.04724	-0.175	0.21064	N	0.999795	B;B;B	0.12013	0.005;0.005;0.002	B;B;B	0.18263	0.016;0.007;0.021	T	0.73579	-0.3938	10	0.02654	T	1	.	10.932	0.47224	0.0:0.5809:0.0:0.4191	.	370;218;427	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	I	427;370;218	ENSP00000363216:V427I;ENSP00000401356:V370I;ENSP00000390240:V218I	ENSP00000363216:V427I	V	-	1	0	OGDHL	50624819	0.099000	0.21834	0.001000	0.08648	0.004000	0.04260	0.643000	0.24750	0.094000	0.17404	-0.137000	0.14449	GTC		0.602	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	
PCDH15	65217	hgsc.bcm.edu	37	10	55626441	55626441	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:55626441G>A	ENST00000320301.6	-	27	4072	c.3678C>T	c.(3676-3678)gaC>gaT	p.D1226D	PCDH15_ENST00000409834.1_Silent_p.D837D|PCDH15_ENST00000373965.2_Silent_p.D1233D|PCDH15_ENST00000395433.1_Silent_p.D1204D|PCDH15_ENST00000361849.3_Silent_p.D1226D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Silent_p.D1231D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.D1189D|PCDH15_ENST00000395438.1_Silent_p.D1226D|PCDH15_ENST00000395445.1_Silent_p.D1233D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.D1226D|PCDH15_ENST00000437009.1_Silent_p.D1155D|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1226	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCCATAGTCGTCAGTTGCAA	0.413										HNSCC(58;0.16)																																							0			10											127.0	109.0	115.0					10																	55626441		2203	4300	6503	55296447	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3678C>T	10.37:g.55626441G>A			55296447	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
ARID5B	84159	hgsc.bcm.edu	37	10	63845642	63845642	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:63845642C>T	ENST00000279873.7	+	9	1791	c.1381C>T	c.(1381-1383)Ccc>Tcc	p.P461S	ARID5B_ENST00000309334.5_Missense_Mutation_p.P218S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	461					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCCCCAAAGCCCCAGGATGC	0.448																																																	0			10											107.0	116.0	113.0					10																	63845642		2203	4300	6503	63515648	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1381C>T	10.37:g.63845642C>T	ENSP00000279873:p.Pro461Ser		63515648	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573951	0.45902	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.12361	2.69;2.69	5.66	4.73	0.59995	.	0.222920	0.40302	N	0.001123	T	0.10165	0.0249	L	0.32530	0.975	0.40270	D	0.978276	P;B	0.43938	0.822;0.057	B;B	0.30855	0.121;0.035	T	0.08493	-1.0719	10	0.51188	T	0.08	-14.3497	15.5066	0.75745	0.0:0.6125:0.3875:0.0	.	218;461	Q14865-2;Q14865	.;ARI5B_HUMAN	S	461;218	ENSP00000279873:P461S;ENSP00000308862:P218S	ENSP00000279873:P461S	P	+	1	0	ARID5B	63515648	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.178000	0.31981	1.468000	0.48064	0.655000	0.94253	CCC		0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
SLC25A16	8034	hgsc.bcm.edu	37	10	70276587	70276587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:70276587G>T	ENST00000609923.1	-	2	242	c.144C>A	c.(142-144)tgC>tgA	p.C48*	SLC25A16_ENST00000539557.1_De_novo_Start_OutOfFrame|SLC25A16_ENST00000265870.3_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	48					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TTTTGGCACAGCATCCAGCAA	0.378																																																	0			10											111.0	105.0	107.0					10																	70276587		2203	4300	6503	69946593	SO:0001587	stop_gained	8034			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.144C>A	10.37:g.70276587G>T	ENSP00000476815:p.Cys48*		69946593	Q8N2U1	Nonsense_Mutation	SNP	ENST00000609923.1	37	CCDS7280.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522027	0.96416	.	.	ENSG00000122912	ENST00000265870	.	.	.	5.63	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-13.2954	10.9319	0.47222	0.1482:0.0:0.8518:0.0	.	.	.	.	X	48	.	ENSP00000265870:C48X	C	-	3	2	SLC25A16	69946593	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.557000	0.45871	2.636000	0.89361	0.655000	0.94253	TGC		0.378	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2		
STOX1	219736	hgsc.bcm.edu	37	10	70652358	70652358	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:70652358G>A	ENST00000298596.6	+	4	2919	c.2836G>A	c.(2836-2838)Gga>Aga	p.G946R	STOX1_ENST00000399162.2_Nonsense_Mutation_p.W159*|STOX1_ENST00000421961.2_Missense_Mutation_p.G836R|STOX1_ENST00000399165.4_Missense_Mutation_p.G226E|STOX1_ENST00000399169.4_Missense_Mutation_p.G946R	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	946						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACAGAGTCTGGGATCTAATAA	0.353																																																	0			10											92.0	90.0	91.0					10																	70652358		1855	4099	5954	70322364	SO:0001583	missense	219736			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2836G>A	10.37:g.70652358G>A	ENSP00000298596:p.Gly946Arg		70322364	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Nonsense_Mutation	SNP	ENST00000298596.6	37	CCDS41535.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.59|15.59|15.59	2.877836|2.877836|2.877836	0.51801|0.51801|0.51801	.|.|.	.|.|.	ENSG00000165730|ENSG00000165730|ENSG00000165730	ENST00000399165|ENST00000399169;ENST00000298596;ENST00000421961|ENST00000399162	D|T;T;T|.	0.83419|0.73681|.	-1.72|-0.77;-0.77;-0.45|.	6.07|6.07|6.07	1.08|1.08|1.08	0.20341|0.20341|0.20341	.|.|.	0.480009|0.480009|.	0.21919|0.21919|.	N|N|.	0.067192|0.067192|.	T|T|.	0.46249|0.46249|.	0.1383|0.1383|.	.|.|.	.|.|.	.|.|.	0.22389|0.22389|0.22389	N|N|N	0.999144|0.999144|0.999144	P|P|.	0.42620|0.38335|.	0.785|0.627|.	P|B|.	0.44897|0.28638|.	0.463|0.092|.	T|T|.	0.43360|0.43360|.	-0.9396|-0.9396|.	9|9|.	0.87932|0.72032|0.72032	D|D|D	0|0.01|0.01	.|.|.	11.0572|11.0572|11.0572	0.47925|0.47925|0.47925	0.3909:0.0:0.6091:0.0|0.3909:0.0:0.6091:0.0|0.3909:0.0:0.6091:0.0	.|.|.	226|946|.	Q6ZVD7-2|Q6ZVD7|.	.|STOX1_HUMAN|.	E|R|X	226|946;946;836|159	ENSP00000382118:G226E|ENSP00000382121:G946R;ENSP00000298596:G946R;ENSP00000394509:G836R|.	ENSP00000382118:G226E|ENSP00000298596:G946R|ENSP00000382115:W159X	G|G|W	+|+|+	2|1|3	0|0|0	STOX1|STOX1|STOX1	70322364|70322364|70322364	0.943000|0.943000|0.943000	0.32029|0.32029|0.32029	0.986000|0.986000|0.986000	0.45419|0.45419|0.45419	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	1.018000|1.018000|1.018000	0.30002|0.30002|0.30002	0.163000|0.163000|0.163000	0.19507|0.19507|0.19507	-0.150000|-0.150000|-0.150000	0.13652|0.13652|0.13652	GGG|GGA|TGG		0.353	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709	
ADAMTS14	140766	hgsc.bcm.edu	37	10	72493710	72493710	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:72493710G>A	ENST00000373207.1	+	8	1278	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	ADAMTS14_ENST00000373208.1_Silent_p.A429A	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	426	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCGTCATGGCGCCCCTGGTGC	0.627																																																	0			10											69.0	61.0	63.0					10																	72493710		2203	4300	6503	72163716	SO:0001819	synonymous_variant	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1278G>A	10.37:g.72493710G>A			72163716	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																				0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
UNC5B	219699	hgsc.bcm.edu	37	10	73039667	73039667	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:73039667G>A	ENST00000335350.6	+	2	585	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A57T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	57	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCACAGGACGCCTACATTGT	0.617																																																	0			10											69.0	66.0	67.0					10																	73039667		2203	4300	6503	72709673	SO:0001583	missense	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.169G>A	10.37:g.73039667G>A	ENSP00000334329:p.Ala57Thr		72709673	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333512	0.95758	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.25414	1.8;1.8	4.52	4.52	0.55395	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.25152	-1.0140	10	0.29301	T	0.29	-32.4997	17.2464	0.87029	0.0:0.0:1.0:0.0	.	57;57	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	57	ENSP00000334329:A57T;ENSP00000362288:A57T	ENSP00000334329:A57T	A	+	1	0	UNC5B	72709673	1.000000	0.71417	0.992000	0.48379	0.905000	0.53344	9.869000	0.99810	2.051000	0.60960	0.561000	0.74099	GCC		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744	
UNC5B	219699	hgsc.bcm.edu	37	10	73051241	73051241	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:73051241C>T	ENST00000335350.6	+	10	1763	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	UNC5B_ENST00000373192.4_Silent_p.A438A	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	449					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CAGCCAGCGCCGGCATCTACC	0.612																																																	0			10											73.0	72.0	73.0					10																	73051241		2203	4300	6503	72721247	SO:0001819	synonymous_variant	219699			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1347C>T	10.37:g.73051241C>T			72721247	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	CCDS7309.1																																																																																				0.612	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744	
CDH23	64072	hgsc.bcm.edu	37	10	73405673	73405673	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:73405673C>T	ENST00000224721.6	+	12	1246	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	CDH23_ENST00000461841.3_Missense_Mutation_p.A454V|CDH23_ENST00000299366.7_Missense_Mutation_p.A454V|CDH23_ENST00000398809.4_Missense_Mutation_p.A409V|CDH23_ENST00000398842.3_Missense_Mutation_p.A409V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.A414V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGGGGAAGGCGGACATTCGT	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)	10											70.0	74.0	73.0					10																	73405673		2025	4171	6196	73075679	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1241C>T	10.37:g.73405673C>T	ENSP00000224721:p.Ala414Val		73075679	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	19.70	3.876103	0.72180	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.59224	0.28;0.32	4.91	4.91	0.64330	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000006	T	0.70988	0.3287	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.989;0.994;0.995;0.994	T	0.69083	-0.5239	10	0.34782	T	0.22	.	18.1099	0.89532	0.0:1.0:0.0:0.0	.	409;412;409;409	Q6P152;G3XCN8;Q9H251;Q9H251-5	.;.;CAD23_HUMAN;.	V	414;409;409;409;409;412;412;324	ENSP00000381789:A409V;ENSP00000381822:A409V	ENSP00000224721:A414V	A	+	2	0	CDH23	73075679	1.000000	0.71417	0.777000	0.31699	0.337000	0.28794	7.456000	0.80751	2.280000	0.76307	0.561000	0.74099	GCG		0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CDHR1	92211	hgsc.bcm.edu	37	10	85964307	85964307	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:85964307G>A	ENST00000372117.3	+	9	911	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	CDHR1_ENST00000440770.2_Missense_Mutation_p.A29T|CDHR1_ENST00000332904.3_Missense_Mutation_p.A270T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	270	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GAAGGTGGTCGCCATGGATGG	0.562																																																	0			10											118.0	112.0	114.0					10																	85964307		2203	4300	6503	85954287	SO:0001583	missense	0			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.808G>A	10.37:g.85964307G>A	ENSP00000361189:p.Ala270Thr		85954287	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724539	0.89298	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.61392	0.11;0.11;0.11	5.48	5.48	0.80851	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	H	0.96333	3.805	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.999;0.93;0.975	D	0.88876	0.3336	10	0.87932	D	0	-36.4018	16.8514	0.85995	0.0:0.0:1.0:0.0	.	29;270;270	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	T	270;270;29	ENSP00000331063:A270T;ENSP00000361189:A270T;ENSP00000415980:A29T	ENSP00000331063:A270T	A	+	1	0	CDHR1	85954287	1.000000	0.71417	0.986000	0.45419	0.506000	0.33950	8.922000	0.92789	2.571000	0.86741	0.561000	0.74099	GCC		0.562	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	
MMRN2	79812	hgsc.bcm.edu	37	10	88703092	88703092	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:88703092G>A	ENST00000372027.5	-	6	1770	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	483					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGATGAGGTCGGCATGGCCAC	0.597																																																	0			10											62.0	55.0	57.0					10																	88703092		2203	4300	6503	88693072	SO:0001819	synonymous_variant	79812			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1449C>T	10.37:g.88703092G>A			88693072	Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	CCDS7379.1																																																																																				0.597	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756	
PTEN	5728	hgsc.bcm.edu	37	10	89690812	89690812	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:89690812A>G	ENST00000371953.3	+	4	1576	c.219A>G	c.(217-219)gaA>gaG	p.E73E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	73	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.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.E73fs*25(1)|p.E73fs*4(1)|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)		GTTGTGCTGAAAGACATTATG	0.308		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"""	59	Whole gene deletion(37)|Deletion - Frameshift(16)|Unknown(6)	prostate(16)|central_nervous_system(14)|breast(6)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	10	GRCh37	CD041930	PTEN	D							75.0	71.0	72.0					10																	89690812		2202	4294	6496	89680792	SO:0001819	synonymous_variant	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.219A>G	10.37:g.89690812A>G			89680792	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.308	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89692804	89692804	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:89692804A>G	ENST00000371953.3	+	5	1645	c.288A>G	c.(286-288)ccA>ccG	p.P96P		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	96	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.Y27fs*1(2)|p.H93fs*5(1)|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)		ATAACCCACCACAGCTAGAAC	0.358		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"""	51	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)	prostate(16)|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											108.0	100.0	102.0					10																	89692804		2203	4300	6503	89682784	SO:0001819	synonymous_variant	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.288A>G	10.37:g.89692804A>G			89682784	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.358	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ENTPD1	953	hgsc.bcm.edu	37	10	97599530	97599530	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:97599530G>A	ENST00000371205.4	+	3	510	c.227G>A	c.(226-228)gGc>gAc	p.G76D	ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_5'UTR|ENTPD1_ENST00000453258.2_Missense_Mutation_p.G83D|ENTPD1_ENST00000539125.1_Intron|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.G88D			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	76					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AATGACACAGGCGTGGTGCAT	0.478																																																	0			10											175.0	164.0	168.0					10																	97599530		2203	4300	6503	97589520	SO:0001583	missense	953			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.227G>A	10.37:g.97599530G>A	ENSP00000360248:p.Gly76Asp		97589520	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776837	0.90195	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000371205	T;T;T	0.11385	2.78;2.78;2.78	5.51	4.61	0.57282	.	0.049140	0.85682	D	0.000000	T	0.33818	0.0876	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.987;1.0;1.0	D;D;P;D;D	0.97110	1.0;0.999;0.618;1.0;0.997	T	0.15578	-1.0432	10	0.27082	T	0.32	-16.8582	12.0868	0.53702	0.0821:0.0:0.9179:0.0	.	88;88;83;76;83	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	D	83;83;88;76	ENSP00000390955:G83D;ENSP00000360250:G88D;ENSP00000360248:G76D	ENSP00000360248:G76D	G	+	2	0	ENTPD1	97589520	1.000000	0.71417	0.897000	0.35233	0.949000	0.60115	9.353000	0.97080	1.572000	0.49736	0.557000	0.71058	GGC		0.478	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776	
CC2D2B	387707	hgsc.bcm.edu	37	10	97787006	97787006	+	Intron	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:97787006C>T	ENST00000344386.3	+	9	944				ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000449197.1_RNA|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.R293*|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B											large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		GATGGAATGGCGACCTAAACA	0.363																																																	0			10											205.0	166.0	178.0					10																	97787006		692	1591	2283	97776996	SO:0001627	intron_variant	387707			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.781-4571C>T	10.37:g.97787006C>T			97776996	A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Nonsense_Mutation	SNP	ENST00000344386.3	37	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075502	0.94000	.	.	ENSG00000188649	ENST00000451649;ENST00000410012	.	.	.	5.67	-4.73	0.03259	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8691	0.88806	0.6996:0.3004:0.0:0.0	.	.	.	.	X	293	.	ENSP00000386988:R293X	R	+	1	2	CC2D2B	97776996	1.000000	0.71417	0.947000	0.38551	0.751000	0.42716	1.416000	0.34759	-0.557000	0.06126	-0.321000	0.08615	CGA		0.363	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732	
CRTAC1	55118	hgsc.bcm.edu	37	10	99683051	99683051	+	Silent	SNP	G	G	A	rs150915829		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:99683051G>A	ENST00000370597.3	-	4	883	c.528C>T	c.(526-528)gcC>gcT	p.A176A	CRTAC1_ENST00000298819.4_Silent_p.A176A|CRTAC1_ENST00000370591.2_Silent_p.A176A	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	176						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CAGAGCGTCCGGCAAAGAGGC	0.592																																																	0			10						G	,	1,4405	2.1+/-5.4	0,1,2202	78.0	62.0	67.0		528,528	-2.4	1.0	10	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CRTAC1	NM_001206528.2,NM_018058.6	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	176/646,176/662	99683051	2,13004	2203	4300	6503	99673041	SO:0001819	synonymous_variant	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.528C>T	10.37:g.99683051G>A			99673041	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	CCDS31266.1																																																																																				0.592	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	
ABCC2	1244	hgsc.bcm.edu	37	10	101578954	101578954	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:101578954G>T	ENST00000370449.4	+	19	2661	c.2548G>T	c.(2548-2550)Gcc>Tcc	p.A850S		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	850	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGCTCTCCTGGCCAAAAAAGG	0.433																																																	0			10											99.0	101.0	100.0					10																	101578954		2203	4300	6503	101568944	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2548G>T	10.37:g.101578954G>T	ENSP00000359478:p.Ala850Ser		101568944	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	6.571	0.473585	0.12521	.	.	ENSG00000023839	ENST00000370449	T	0.78246	-1.16	5.45	5.45	0.79879	ABC transporter-like (1);	0.048372	0.85682	D	0.000000	T	0.57740	0.2074	N	0.04387	-0.21	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.54977	-0.8212	10	0.28530	T	0.3	-9.349	13.56	0.61784	0.0748:0.0:0.9252:0.0	.	850	Q92887	MRP2_HUMAN	S	850	ENSP00000359478:A850S	ENSP00000359478:A850S	A	+	1	0	ABCC2	101568944	1.000000	0.71417	0.979000	0.43373	0.015000	0.08874	3.665000	0.54532	2.543000	0.85770	0.561000	0.74099	GCC		0.433	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
PDZD7	79955	hgsc.bcm.edu	37	10	102783745	102783745	+	Missense_Mutation	SNP	C	C	T	rs148695069		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:102783745C>T	ENST00000370215.3	-	3	532	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	PDZD7_ENST00000470414.1_Missense_Mutation_p.G103R	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	103	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TCTGAGCCCCCGCGCACGCTG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21090	0.0		0.0	False		,,,				2504	0.0																0			10											99.0	91.0	94.0					10																	102783745		2203	4300	6503	102773735	SO:0001583	missense	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.307G>A	10.37:g.102783745C>T	ENSP00000359234:p.Gly103Arg		102773735	D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737050	0.89482	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.25085	1.82	5.07	5.07	0.68467	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.68712	-0.5336	10	0.87932	D	0	.	18.8027	0.92025	0.0:1.0:0.0:0.0	.	103;103	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	R	103	ENSP00000359234:G103R	ENSP00000359234:G103R	G	-	1	0	PDZD7	102773735	1.000000	0.71417	0.223000	0.23860	0.723000	0.41478	7.675000	0.84002	2.498000	0.84270	0.491000	0.48974	GGG		0.577	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895	
TLX1	3195	hgsc.bcm.edu	37	10	102894060	102894060	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:102894060G>A	ENST00000370196.6	+	2	2739	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_Missense_Mutation_p.A233T			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	233					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGAGCGCGCCGCCCTGGCCAA	0.657			T	"""TRB@, TRD@"""	T-ALL																																			Dom	yes		10	10q24	3195	""" T-cell leukemia, homeobox 1 (HOX11)"""		L	0			10											26.0	27.0	27.0					10																	102894060		2198	4298	6496	102884050	SO:0001583	missense	3195			M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"""Homeoboxes / ANTP class : NKL subclass"""	5056	protein-coding gene	gene with protein product	"""Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)"", ""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"""	186770	"""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"", ""T-cell leukemia, homeobox 1"""	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.697G>A	10.37:g.102894060G>A	ENSP00000359215:p.Ala233Thr		102884050	A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Missense_Mutation	SNP	ENST00000370196.6	37	CCDS7510.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180111	0.94846	.	.	ENSG00000107807	ENST00000370196;ENST00000467928	D;D	0.96200	-3.94;-3.94	5.8	5.8	0.92144	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.049134	0.85682	D	0.000000	D	0.92896	0.7740	N	0.11427	0.14	0.80722	D	1	D	0.56521	0.976	P	0.50490	0.642	D	0.93637	0.6961	10	0.51188	T	0.08	.	20.0537	0.97638	0.0:0.0:1.0:0.0	.	233	P31314	TLX1_HUMAN	T	233	ENSP00000359215:A233T;ENSP00000434914:A233T	ENSP00000359215:A233T	A	+	1	0	TLX1	102884050	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.176000	0.58269	2.758000	0.94735	0.561000	0.74099	GCC		0.657	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051193.3	NM_005521	
CALHM1	255022	hgsc.bcm.edu	37	10	105217977	105217977	+	Missense_Mutation	SNP	G	G	A	rs368218776		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:105217977G>A	ENST00000329905.5	-	1	668	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	178					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CGGAGGTAACGCACGGCCACC	0.692																																																	0			10						G	CYS/ARG	1,4405		0,1,2202	40.0	49.0	46.0		532	4.6	1.0	10		46	0,8594		0,0,4297	no	missense	CALHM1	NM_001001412.3	180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	178/347	105217977	1,12999	2203	4297	6500	105207967	SO:0001583	missense	255022			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.532C>T	10.37:g.105217977G>A	ENSP00000329926:p.Arg178Cys		105207967	Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778742	0.70107	2.27E-4	0.0	ENSG00000185933	ENST00000329905	T	0.19669	2.13	5.49	4.55	0.56014	.	0.048431	0.85682	D	0.000000	T	0.47173	0.1431	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.49899	-0.8890	10	0.66056	D	0.02	-41.0963	13.6457	0.62279	0.0:0.0:0.7409:0.2591	.	178	Q8IU99	CAHM1_HUMAN	C	178	ENSP00000329926:R178C	ENSP00000329926:R178C	R	-	1	0	CALHM1	105207967	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.389000	0.34453	2.582000	0.87167	0.462000	0.41574	CGT		0.692	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412	
COL17A1	1308	hgsc.bcm.edu	37	10	105793886	105793886	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:105793886C>T	ENST00000353479.5	-	52	4263	c.3973G>A	c.(3973-3975)Ggt>Agt	p.G1325S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G1243S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1325	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCAAAGGCACCGCCTGCACCC	0.632																																																	0			10											46.0	44.0	45.0					10																	105793886		2203	4300	6503	105783876	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3973G>A	10.37:g.105793886C>T	ENSP00000340937:p.Gly1325Ser		105783876	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597750	0.28445	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	T;D	0.90844	-0.77;-2.74	4.66	4.66	0.58398	.	0.414645	0.17976	N	0.155686	T	0.81851	0.4910	N	0.16368	0.405	0.80722	D	1	P	0.43662	0.814	B	0.32583	0.148	D	0.85338	0.1094	10	0.72032	D	0.01	-0.2304	15.726	0.77761	0.0:1.0:0.0:0.0	.	1325	Q9UMD9	COHA1_HUMAN	S	1325;1243	ENSP00000340937:G1325S;ENSP00000358748:G1243S	ENSP00000340937:G1325S	G	-	1	0	COL17A1	105783876	0.007000	0.16637	0.590000	0.28732	0.003000	0.03518	1.397000	0.34543	2.148000	0.66965	0.561000	0.74099	GGT		0.632	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
SORCS1	114815	hgsc.bcm.edu	37	10	108489870	108489870	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:108489870G>A	ENST00000263054.6	-	6	969	c.962C>T	c.(961-963)tCt>tTt	p.S321F	SORCS1_ENST00000344440.6_Missense_Mutation_p.S321F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	321					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCCATCACAGACCTAAAAAA	0.408																																																	0			10											106.0	90.0	95.0					10																	108489870		2203	4300	6503	108479860	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.962C>T	10.37:g.108489870G>A	ENSP00000263054:p.Ser321Phe		108479860	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093322	0.76756	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.40756	1.02;1.02	5.89	5.89	0.94794	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.68952	2.095	0.48571	D	0.999671	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.79784	0.984;0.986;0.993;0.984;0.993	T	0.60239	-0.7302	9	.	.	.	-16.645	15.7619	0.78091	0.0:0.0:1.0:0.0	.	321;321;321;321;321	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	F	321	ENSP00000263054:S321F;ENSP00000345964:S321F	.	S	-	2	0	SORCS1	108479860	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.353000	0.66034	2.793000	0.96121	0.655000	0.94253	TCT		0.408	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
ACSL5	51703	hgsc.bcm.edu	37	10	114176724	114176724	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:114176724A>G	ENST00000393081.1	+	13	1469	c.1162A>G	c.(1162-1164)Aag>Gag	p.K388E	ACSL5_ENST00000433418.1_Missense_Mutation_p.K388E|ACSL5_ENST00000356116.1_Missense_Mutation_p.K444E|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000354655.4_Missense_Mutation_p.K388E|ACSL5_ENST00000369410.3_Missense_Mutation_p.K170E|ACSL5_ENST00000354273.4_Missense_Mutation_p.K388E	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	388			K -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGAGCTTCAAAAGGGTATCAT	0.463																																																	0			10											120.0	114.0	116.0					10																	114176724		2203	4300	6503	114166714	SO:0001583	missense	51703			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1162A>G	10.37:g.114176724A>G	ENSP00000376796:p.Lys388Glu		114166714	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	A	4.529	0.098208	0.08681	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.39997	1.82;1.82;1.81;1.05;1.82;1.5	5.79	3.48	0.39840	AMP-dependent synthetase/ligase (1);	0.613940	0.18293	N	0.145668	T	0.29620	0.0739	N	0.25144	0.715	0.25009	N	0.991418	B;B;B;B	0.25955	0.001;0.001;0.138;0.014	B;B;B;B	0.27170	0.008;0.004;0.077;0.053	T	0.17930	-1.0353	10	0.36615	T	0.2	-0.7129	11.8005	0.52124	0.4652:0.5347:0.0:0.0	.	170;388;444;388	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	E	388;388;444;388;388;170	ENSP00000346680:K388E;ENSP00000376796:K388E;ENSP00000348429:K444E;ENSP00000403647:K388E;ENSP00000346223:K388E;ENSP00000358418:K170E	ENSP00000346223:K388E	K	+	1	0	ACSL5	114166714	0.991000	0.36638	0.476000	0.27291	0.003000	0.03518	1.347000	0.33975	1.011000	0.39340	-0.323000	0.08544	AAG		0.463	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234	
ATRNL1	26033	hgsc.bcm.edu	37	10	117154169	117154169	+	Splice_Site	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:117154169C>T	ENST00000355044.3	+	20	3302	c.3176C>T	c.(3175-3177)gCt>gTt	p.A1059V	ATRNL1_ENST00000423111.2_Splice_Site_p.A110V|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1059	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.A1059G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGACTTACAGCTTGTACATGC	0.333																																																	1	Substitution - Missense(1)	ovary(1)	10											136.0	123.0	127.0					10																	117154169		2203	4300	6503	117144159	SO:0001630	splice_region_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3176-1C>T	10.37:g.117154169C>T			117144159	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592994	0.66219	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.63580	-0.05;1.82	5.61	5.61	0.85477	EGF-like, laminin (2);	0.097167	0.64402	D	0.000001	T	0.69142	0.3078	L	0.35542	1.07	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.66396	-0.5934	9	.	.	.	.	15.1377	0.72583	0.0:1.0:0.0:0.0	.	110;1059	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1059;110	ENSP00000347152:A1059V;ENSP00000409624:A110V	.	A	+	2	0	ATRNL1	117144159	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.442000	0.59988	2.640000	0.89533	0.655000	0.94253	GCT		0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Missense_Mutation
PNLIPRP3	119548	hgsc.bcm.edu	37	10	118231354	118231354	+	Missense_Mutation	SNP	G	G	A	rs61729308		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:118231354G>A	ENST00000369230.3	+	10	1281	c.1135G>A	c.(1135-1137)Ggg>Agg	p.G379R		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	379	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCGTGTAGGCGGGGCAGTTAG	0.473																																																	0			10											145.0	154.0	151.0					10																	118231354		2203	4300	6503	118221344	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1135G>A	10.37:g.118231354G>A	ENSP00000358232:p.Gly379Arg		118221344		Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.330278	0.60743	.	.	ENSG00000203837	ENST00000369230	D	0.88741	-2.42	4.18	4.18	0.49190	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.329027	0.21304	N	0.076742	D	0.94241	0.8151	M	0.82517	2.595	0.09310	N	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.87864	0.2666	10	0.87932	D	0	.	14.0858	0.64954	0.0:0.0:1.0:0.0	rs61729308	379	Q17RR3	LIPR3_HUMAN	R	379	ENSP00000358232:G379R	ENSP00000358232:G379R	G	+	1	0	PNLIPRP3	118221344	0.997000	0.39634	0.079000	0.20413	0.018000	0.09664	4.017000	0.57167	2.279000	0.76181	0.591000	0.81541	GGG		0.473	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	
INPP5F	22876	hgsc.bcm.edu	37	10	121582687	121582687	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:121582687C>T	ENST00000361976.2	+	18	2303	c.2137C>T	c.(2137-2139)Cgt>Tgt	p.R713C	INPP5F_ENST00000490818.1_3'UTR|INPP5F_ENST00000369080.3_Missense_Mutation_p.R103C	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCTGTAATGCGTAATCCTGA	0.408																																																	0			10											96.0	89.0	91.0					10																	121582687		2203	4300	6503	121572677	SO:0001583	missense	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.2137C>T	10.37:g.121582687C>T	ENSP00000354519:p.Arg713Cys		121572677	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523704	0.85600	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.52526	0.95;0.66	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.926	T	0.58923	-0.7550	10	0.52906	T	0.07	-16.5405	20.8598	0.99761	0.0:1.0:0.0:0.0	.	103;713	Q5W135;Q9Y2H2	.;SAC2_HUMAN	C	713;103	ENSP00000354519:R713C;ENSP00000358076:R103C	ENSP00000354519:R713C	R	+	1	0	INPP5F	121572677	1.000000	0.71417	0.945000	0.38365	0.448000	0.32197	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	CGT		0.408	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	
DHX32	55760	hgsc.bcm.edu	37	10	127527574	127527574	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:127527574A>G	ENST00000284690.3	-	9	2367	c.1877T>C	c.(1876-1878)aTg>aCg	p.M626T	BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.M250T|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.M545T|BCCIP_ENST00000299130.3_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	626						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCTCACCTGCATAAAGTAACC	0.448																																																	0			10											230.0	230.0	230.0					10																	127527574		2203	4300	6503	127517564	SO:0001583	missense	55760				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1877T>C	10.37:g.127527574A>G	ENSP00000284690:p.Met626Thr		127517564	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632323	0.67015	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.17213	2.29;4.09;3.79	5.02	5.02	0.67125	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	M	0.84585	2.705	0.80722	D	1	B	0.33940	0.433	B	0.34093	0.175	T	0.15896	-1.0421	10	0.87932	D	0	-43.1841	14.0776	0.64900	1.0:0.0:0.0:0.0	.	626	Q7L7V1	DHX32_HUMAN	T	250;626;545	ENSP00000357710:M250T;ENSP00000284690:M626T;ENSP00000284688:M545T	ENSP00000284688:M545T	M	-	2	0	DHX32	127517564	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.051000	0.76627	2.099000	0.63709	0.533000	0.62120	ATG		0.448	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	
PTPRE	5791	hgsc.bcm.edu	37	10	129868630	129868630	+	Silent	SNP	C	C	T	rs140843679		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:129868630C>T	ENST00000254667.3	+	14	1488	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D	PTPRE_ENST00000306042.5_Silent_p.D345D|PTPRE_ENST00000419012.2_Silent_p.D403D	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	403					negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CAGAGCTGGACGTGTCCTCCC	0.587																																					Colon(52;977 1184 20575 41685)												0			10						T	,	1,4405	2.1+/-5.4	0,1,2202	137.0	105.0	116.0		1209,1035	-1.7	1.0	10	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRE	NM_006504.4,NM_130435.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	403/701,345/643	129868630	1,13005	2203	4300	6503	129758620	SO:0001819	synonymous_variant	5791			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1209C>T	10.37:g.129868630C>T			129758620	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	CCDS7657.1																																																																																				0.587	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		
MKI67	4288	hgsc.bcm.edu	37	10	129903302	129903302	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:129903302T>C	ENST00000368654.3	-	13	7177	c.6802A>G	c.(6802-6804)Aca>Gca	p.T2268A	MKI67_ENST00000368653.3_Missense_Mutation_p.T1908A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2268	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGTTTGGGTGTGTCCATAGCT	0.473																																																	0			10											301.0	273.0	282.0					10																	129903302		2203	4300	6503	129793292	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6802A>G	10.37:g.129903302T>C	ENSP00000357643:p.Thr2268Ala		129793292	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053516	0.36181	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03065	4.06;4.06	2.91	0.477	0.16784	.	0.419884	0.17486	N	0.172501	T	0.06325	0.0163	M	0.63843	1.955	0.09310	N	1	P;D;D	0.55800	0.762;0.961;0.973	B;P;P	0.56163	0.348;0.793;0.754	T	0.22977	-1.0201	10	0.08599	T	0.76	.	2.4224	0.04451	0.3502:0.0:0.21:0.4398	.	2267;1908;2268	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	2268;1908;2267	ENSP00000357643:T2268A;ENSP00000357642:T1908A	ENSP00000357642:T1908A	T	-	1	0	MKI67	129793292	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.759000	0.01808	0.301000	0.22738	0.533000	0.62120	ACA		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MKI67	4288	hgsc.bcm.edu	37	10	129906252	129906252	+	Silent	SNP	C	C	T	rs141076241	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:129906252C>T	ENST00000368654.3	-	13	4227	c.3852G>A	c.(3850-3852)gcG>gcA	p.A1284A	MKI67_ENST00000368653.3_Silent_p.A924A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1284	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.A1284A(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATTCCTGCACGCTAAGAGTT	0.498													T|||	2	0.000399361	0.0	0.0	5008	,	,		21875	0.0		0.0	False		,,,				2504	0.002																1	Substitution - coding silent(1)	large_intestine(1)	10						T	,	0,4406		0,0,2203	263.0	247.0	253.0		2772,3852	-2.8	0.0	10	dbSNP_134	253	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	924/2897,1284/3257	129906252	2,13004	2203	4300	6503	129796242	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3852G>A	10.37:g.129906252C>T			129796242	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
DPYSL4	10570	hgsc.bcm.edu	37	10	134013933	134013933	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:134013933G>T	ENST00000338492.4	+	9	1049	c.885G>T	c.(883-885)tgG>tgT	p.W295C	DPYSL4_ENST00000368629.1_Missense_Mutation_p.W195C|DPYSL4_ENST00000368627.1_Missense_Mutation_p.W195C	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	295					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCAAGAACTGGGCCAAGGCCG	0.647																																																	0			10											133.0	119.0	124.0					10																	134013933		2203	4300	6503	133863923	SO:0001583	missense	10570			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.885G>T	10.37:g.134013933G>T	ENSP00000339850:p.Trp295Cys		133863923	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918813	0.73098	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.90133	-2.62;-2.62;-2.62	4.58	3.68	0.42216	Amidohydrolase 1 (1);	0.138738	0.52532	D	0.000068	D	0.95987	0.8693	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96546	0.9404	10	0.87932	D	0	-23.1401	12.8327	0.57754	0.0792:0.0:0.9208:0.0	.	295	O14531	DPYL4_HUMAN	C	295;195;195	ENSP00000339850:W295C;ENSP00000357618:W195C;ENSP00000357616:W195C	ENSP00000339850:W295C	W	+	3	0	DPYSL4	133863923	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.118000	0.94355	1.304000	0.44892	0.555000	0.69702	TGG		0.647	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2		
KNDC1	85442	hgsc.bcm.edu	37	10	134999821	134999821	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:134999821G>A	ENST00000304613.3	+	6	990	c.969G>A	c.(967-969)ccG>ccA	p.P323P	KNDC1_ENST00000368572.2_Silent_p.P323P|KNDC1_ENST00000368571.2_Silent_p.P258P			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	323					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCTGCCTGCCGCTGACCCGCG	0.622																																																	0			10											17.0	19.0	19.0					10																	134999821		2198	4294	6492	134849811	SO:0001819	synonymous_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.969G>A	10.37:g.134999821G>A			134849811	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																				0.622	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
LPCAT1	79888	hgsc.bcm.edu	37	5	1463838	1463838	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:1463838G>A	ENST00000283415.3	-	14	1665	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	511					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CACAGAAGCCGTTTGGGATTG	0.572																																																	0			5											89.0	89.0	89.0					5																	1463838		2203	4300	6503	1516838	SO:0001819	synonymous_variant	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1533C>T	5.37:g.1463838G>A			1516838	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	CCDS3864.1																																																																																				0.572	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830	
ADCY2	108	hgsc.bcm.edu	37	5	7802415	7802415	+	Missense_Mutation	SNP	G	G	A	rs368187458		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:7802415G>A	ENST00000338316.4	+	21	2802	c.2713G>A	c.(2713-2715)Gtg>Atg	p.V905M	ADCY2_ENST00000537121.1_Missense_Mutation_p.V725M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	905					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						AGAATCCGACGTGAACAAGGA	0.493																																																	0			5						G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	91.0	90.0	90.0		2713	5.2	1.0	5		90	0,8600		0,0,4300	no	missense	ADCY2	NM_020546.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	905/1092	7802415	1,13005	2203	4300	6503	7855415	SO:0001583	missense	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.2713G>A	5.37:g.7802415G>A	ENSP00000342952:p.Val905Met		7855415	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630636	0.87660	2.27E-4	0.0	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.30714	1.52;1.52	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	L	0.49350	1.555	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.74023	0.973;0.982	T	0.41574	-0.9501	10	0.39692	T	0.17	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	725;905	B7Z2C1;Q08462	.;ADCY2_HUMAN	M	905;58;738;725	ENSP00000342952:V905M;ENSP00000444803:V725M	ENSP00000342952:V905M	V	+	1	0	ADCY2	7855415	1.000000	0.71417	0.958000	0.39756	0.748000	0.42578	6.423000	0.73361	2.447000	0.82792	0.591000	0.81541	GTG		0.493	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
DNAH5	1767	hgsc.bcm.edu	37	5	13913866	13913866	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:13913866C>T	ENST00000265104.4	-	11	1626	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	508	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTTAGTGGCCATGTCTTCC	0.353									Kartagener syndrome																																								0			5											111.0	113.0	112.0					5																	13913866		2203	4300	6503	13966866	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1522G>A	5.37:g.13913866C>T	ENSP00000265104:p.Ala508Thr		13966866	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503763	0.26949	.	.	ENSG00000039139	ENST00000265104	T	0.55588	0.51	5.8	2.97	0.34412	Dynein heavy chain, domain-1 (1);	0.530986	0.20432	N	0.092454	T	0.37433	0.1003	L	0.35288	1.05	0.28706	N	0.903828	B	0.02656	0.0	B	0.15484	0.013	T	0.23547	-1.0185	10	0.23302	T	0.38	.	8.3981	0.32570	0.0:0.5685:0.0:0.4315	.	508	Q8TE73	DYH5_HUMAN	T	508	ENSP00000265104:A508T	ENSP00000265104:A508T	A	-	1	0	DNAH5	13966866	1.000000	0.71417	0.010000	0.14722	0.819000	0.46315	2.687000	0.46976	0.317000	0.23160	0.650000	0.86243	GCC		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PDZD2	23037	hgsc.bcm.edu	37	5	32052764	32052764	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:32052764G>T	ENST00000438447.1	+	9	2101	c.1713G>T	c.(1711-1713)caG>caT	p.Q571H	PDZD2_ENST00000282493.3_Missense_Mutation_p.Q571H			O15018	PDZD2_HUMAN	PDZ domain containing 2	571					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCACGACTCAGGTGGAATCTC	0.468																																																	0			5											177.0	166.0	170.0					5																	32052764		2203	4300	6503	32088521	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1713G>T	5.37:g.32052764G>T	ENSP00000402033:p.Gln571His		32088521	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829348	0.32329	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.38401	1.14;1.14	5.57	-0.492	0.12041	PDZ/DHR/GLGF (1);	0.215240	0.23777	N	0.044671	T	0.15609	0.0376	N	0.19112	0.55	0.36364	D	0.860869	B;B	0.19445	0.036;0.022	B;B	0.14578	0.01;0.011	T	0.10019	-1.0648	10	0.29301	T	0.29	.	0.3233	0.00306	0.2321:0.1753:0.2642:0.3285	.	397;571	B4E3P2;O15018	.;PDZD2_HUMAN	H	571;390;571	ENSP00000402033:Q571H;ENSP00000282493:Q571H	ENSP00000282493:Q571H	Q	+	3	2	PDZD2	32088521	1.000000	0.71417	0.873000	0.34254	0.942000	0.58702	0.821000	0.27338	-0.446000	0.07149	0.655000	0.94253	CAG		0.468	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
PDZD2	23037	hgsc.bcm.edu	37	5	32058122	32058122	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:32058122G>T	ENST00000438447.1	+	12	2501	c.2113G>T	c.(2113-2115)Ggt>Tgt	p.G705C	PDZD2_ENST00000282493.3_Missense_Mutation_p.G705C			O15018	PDZD2_HUMAN	PDZ domain containing 2	705					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCAGCGGGAGGTTCCGATGA	0.572																																																	0			5																																								32093879	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2113G>T	5.37:g.32058122G>T	ENSP00000402033:p.Gly705Cys		32093879	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412461	0.42817	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09073	3.02;3.02	5.84	5.84	0.93424	PDZ/DHR/GLGF (1);	0.457721	0.18586	N	0.136870	T	0.19886	0.0478	L	0.29908	0.895	0.38730	D	0.953641	D;D	0.89917	0.999;1.0	D;D	0.69142	0.921;0.962	T	0.00945	-1.1505	10	0.66056	D	0.02	.	17.6508	0.88163	0.0:0.0:1.0:0.0	.	531;705	B4E3P2;O15018	.;PDZD2_HUMAN	C	705;524;705	ENSP00000402033:G705C;ENSP00000282493:G705C	ENSP00000282493:G705C	G	+	1	0	PDZD2	32093879	1.000000	0.71417	0.063000	0.19743	0.013000	0.08279	3.398000	0.52579	2.768000	0.95171	0.650000	0.86243	GGT		0.572	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
NIPBL	25836	hgsc.bcm.edu	37	5	37019433	37019433	+	Silent	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:37019433A>G	ENST00000282516.8	+	25	5440	c.4941A>G	c.(4939-4941)gaA>gaG	p.E1647E	NIPBL_ENST00000448238.2_Silent_p.E1647E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1647			E -> K (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGGAAGATGAAATCCAACAAT	0.343																																																	0			5											100.0	95.0	97.0					5																	37019433		2203	4299	6502	37055190	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4941A>G	5.37:g.37019433A>G			37055190	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																				0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
GZMA	3001	hgsc.bcm.edu	37	5	54401317	54401317	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:54401317T>A	ENST00000274306.6	+	2	121	c.86T>A	c.(85-87)aTt>aAt	p.I29N		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	29	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTGAAAAAATTATTGGAGGA	0.413																																																	0			5											91.0	87.0	88.0					5																	54401317		2203	4300	6503	54437074	SO:0001583	missense	3001				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.86T>A	5.37:g.54401317T>A	ENSP00000274306:p.Ile29Asn		54437074	A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138255	0.56936	.	.	ENSG00000145649	ENST00000274306	T	0.67171	-0.25	5.07	5.07	0.68467	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	H	0.99042	4.41	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.93256	0.6639	10	0.87932	D	0	.	14.6564	0.68835	0.0:0.0:0.0:1.0	.	29	P12544	GRAA_HUMAN	N	29	ENSP00000274306:I29N	ENSP00000274306:I29N	I	+	2	0	GZMA	54437074	1.000000	0.71417	0.983000	0.44433	0.384000	0.30261	6.180000	0.71981	2.114000	0.64651	0.533000	0.62120	ATT		0.413	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144	
MAP3K1	4214	hgsc.bcm.edu	37	5	56176939	56176939	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:56176939G>T	ENST00000399503.3	+	13	2209	c.2209G>T	c.(2209-2211)Gtc>Ttc	p.V737F		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	737					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGTTGATTATGTCTTAAATTG	0.308																																																	0			5											112.0	98.0	102.0					5																	56176939		1825	4079	5904	56212696	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2209G>T	5.37:g.56176939G>T	ENSP00000382423:p.Val737Phe		56212696		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328426	0.81690	.	.	ENSG00000095015	ENST00000399503	T	0.65549	-0.16	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.75744	0.3891	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.75414	-0.3326	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	737	Q13233	M3K1_HUMAN	F	737	ENSP00000382423:V737F	ENSP00000382423:V737F	V	+	1	0	MAP3K1	56212696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.122000	0.64697	2.941000	0.99782	0.655000	0.94253	GTC		0.308	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
PIK3R1	5295	hgsc.bcm.edu	37	5	67576772	67576772	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:67576772A>G	ENST00000521381.1	+	7	1470	c.854A>G	c.(853-855)aAc>aGc	p.N285S	PIK3R1_ENST00000274335.5_Missense_Mutation_p.N285S|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N285S|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N285S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	285	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AATACTGAAAACCTCATAAAA	0.328			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)	5											53.0	59.0	57.0					5																	67576772		2203	4300	6503	67612528	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.854A>G	5.37:g.67576772A>G	ENSP00000428056:p.Asn285Ser		67612528	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	9.624	1.134633	0.21123	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;2.03;2.03	5.24	1.39	0.22231	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	1.002750	0.08029	N	0.993168	T	0.24509	0.0594	N	0.24115	0.695	0.22693	N	0.998842	B	0.02656	0.0	B	0.01281	0.0	T	0.25502	-1.0130	10	0.22109	T	0.4	-1.7464	2.9431	0.05837	0.5089:0.2818:0.0738:0.1355	.	285	P27986	P85A_HUMAN	S	285;285;285;285;15;15	ENSP00000428056:N285S;ENSP00000429277:N285S;ENSP00000379855:N285S;ENSP00000274335:N285S;ENSP00000430126:N15S;ENSP00000429766:N15S	ENSP00000274335:N285S	N	+	2	0	PIK3R1	67612528	0.999000	0.42202	0.998000	0.56505	0.971000	0.66376	1.309000	0.33539	0.272000	0.22027	0.460000	0.39030	AAC		0.328	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
MAP1B	4131	hgsc.bcm.edu	37	5	71496022	71496022	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:71496022C>A	ENST00000296755.7	+	5	7138	c.6840C>A	c.(6838-6840)tcC>tcA	p.S2280S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2280					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGAAAGAATCCTCGGATAAAG	0.502																																					Melanoma(17;367 822 11631 31730 47712)												0			5											97.0	108.0	104.0					5																	71496022		2203	4300	6503	71531778	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6840C>A	5.37:g.71496022C>A			71531778	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
IQGAP2	10788	hgsc.bcm.edu	37	5	75866460	75866460	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:75866460T>C	ENST00000274364.6	+	4	656	c.359T>C	c.(358-360)aTg>aCg	p.M120T	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	120	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTAAGAGCGATGGAGTCTATT	0.448																																																	0			5											168.0	158.0	162.0					5																	75866460		2203	4300	6503	75902216	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.359T>C	5.37:g.75866460T>C	ENSP00000274364:p.Met120Thr		75902216	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285025	0.80803	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.43294	0.95;0.95;0.95	5.52	5.52	0.82312	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.83953	2.67	0.80722	D	1	D	0.62365	0.991	D	0.87578	0.998	T	0.73652	-0.3915	10	0.87932	D	0	-33.1508	15.6418	0.77009	0.0:0.0:0.0:1.0	.	120	Q13576	IQGA2_HUMAN	T	120;93;70	ENSP00000274364:M120T;ENSP00000423672:M93T;ENSP00000421097:M70T	ENSP00000274364:M120T	M	+	2	0	IQGAP2	75902216	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	7.874000	0.87199	2.103000	0.63969	0.533000	0.62120	ATG		0.448	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
PDE8B	8622	hgsc.bcm.edu	37	5	76717755	76717755	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:76717755G>A	ENST00000264917.5	+	20	2405	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H	PDE8B_ENST00000346042.3_Missense_Mutation_p.R690H|PDE8B_ENST00000342343.4_Missense_Mutation_p.R767H|PDE8B_ENST00000340978.3_Missense_Mutation_p.R740H|PDE8B_ENST00000333194.4_Missense_Mutation_p.R732H|PDE8B_ENST00000505283.1_Missense_Mutation_p.R252H	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	787	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AACCCATGCCGCCCCTTGGAC	0.532																																																	0			5											118.0	107.0	111.0					5																	76717755		2203	4300	6503	76753511	SO:0001583	missense	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2360G>A	5.37:g.76717755G>A	ENSP00000264917:p.Arg787His		76753511	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591947	0.86953	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	4.85	3.96	0.45880	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.161807	0.53938	D	0.000058	D	0.94059	0.8096	H	0.97214	3.96	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;1.0	D	0.95826	0.8854	10	0.87932	D	0	.	14.4612	0.67450	0.0:0.0:0.8516:0.1484	.	690;740;732;767;787	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	H	740;690;787;767;732;252	ENSP00000345446:R740H;ENSP00000330428:R690H;ENSP00000264917:R787H;ENSP00000345646:R767H;ENSP00000331336:R732H;ENSP00000423461:R252H	ENSP00000264917:R787H	R	+	2	0	PDE8B	76753511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	1.243000	0.43853	0.561000	0.74099	CGC		0.532	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	
JMY	133746	hgsc.bcm.edu	37	5	78533002	78533002	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:78533002G>A	ENST00000396137.4	+	1	991	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	DMGDH_ENST00000520388.1_5'Flank	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	177					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AGAGGCCCAGGTGTCCTCTGT	0.657																																																	0			5											12.0	17.0	15.0					5																	78533002		692	1590	2282	78568758	SO:0001583	missense	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.529G>A	5.37:g.78533002G>A	ENSP00000379441:p.Val177Met		78568758	A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	9.177	1.022514	0.19433	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.08193	3.12	3.25	1.39	0.22231	.	1.672870	0.04729	U	0.420775	T	0.06826	0.0174	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.37079	-0.9721	10	0.40728	T	0.16	.	6.2736	0.20969	0.2591:0.0:0.7409:0.0	.	177	Q8N9B5	JMY_HUMAN	M	177	ENSP00000379441:V177M	ENSP00000282259:V177M	V	+	1	0	JMY	78568758	0.003000	0.15002	0.029000	0.17559	0.169000	0.22640	0.692000	0.25482	0.651000	0.30788	0.462000	0.41574	GTG		0.657	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405	
ATG10	83734	hgsc.bcm.edu	37	5	81283461	81283461	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:81283461A>T	ENST00000282185.3	+	2	366	c.72A>T	c.(70-72)caA>caT	p.Q24H	ATG10_ENST00000458350.3_Missense_Mutation_p.Q24H|ATG10_ENST00000355178.4_Missense_Mutation_p.Q24H|ATG10_ENST00000513634.1_Missense_Mutation_p.Q24H|ATG10_ENST00000513443.1_Missense_Mutation_p.Q24H	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	24					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		AACATTCACAACAGATAGGTG	0.318																																																	0			5											125.0	136.0	133.0					5																	81283461		2203	4299	6502	81319217	SO:0001583	missense	83734			AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.72A>T	5.37:g.81283461A>T	ENSP00000282185:p.Gln24His		81319217	B2RE09|Q6PIX1|Q9H842	Missense_Mutation	SNP	ENST00000282185.3	37	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546348	0.27652	.	.	ENSG00000152348	ENST00000355178;ENST00000282185;ENST00000458350;ENST00000510085;ENST00000513443;ENST00000513634	T;T;T;T;T	0.47177	1.27;1.85;1.85;1.27;0.85	5.71	-0.273	0.12915	.	0.297264	0.35585	N	0.003111	T	0.60104	0.2243	M	0.62723	1.935	0.39026	D	0.959848	P;P;D	0.76494	0.917;0.952;0.999	P;P;D	0.70935	0.671;0.753;0.971	T	0.58549	-0.7617	10	0.35671	T	0.21	-8.6822	13.2969	0.60303	0.2431:0.0:0.7569:0.0	.	24;24;24	D6RDX3;Q9H0Y0;Q9H0Y0-2	.;ATG10_HUMAN;.	H	24	ENSP00000347309:Q24H;ENSP00000282185:Q24H;ENSP00000404938:Q24H;ENSP00000425182:Q24H;ENSP00000425225:Q24H	ENSP00000282185:Q24H	Q	+	3	2	ATG10	81319217	0.999000	0.42202	0.993000	0.49108	0.438000	0.31896	0.829000	0.27449	-0.258000	0.09446	-0.924000	0.02725	CAA		0.318	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028	
VCAN	1462	hgsc.bcm.edu	37	5	82785939	82785939	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:82785939G>A	ENST00000265077.3	+	3	658	c.93G>A	c.(91-93)ccG>ccA	p.P31P	VCAN_ENST00000512590.2_De_novo_Start_InFrame|VCAN_ENST00000502527.2_Silent_p.P31P|VCAN_ENST00000513984.1_Silent_p.P31P|VCAN_ENST00000343200.5_Silent_p.P31P|VCAN_ENST00000342785.4_Silent_p.P31P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	31	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAGCCCACCGGTGAGGGGCT	0.408																																																	0			5											48.0	49.0	49.0					5																	82785939		2201	4290	6491	82821695	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.93G>A	5.37:g.82785939G>A			82821695	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
EDIL3	10085	hgsc.bcm.edu	37	5	83402565	83402565	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:83402565C>T	ENST00000296591.5	-	6	971	c.553G>A	c.(553-555)Gga>Aga	p.G185R	EDIL3_ENST00000380138.3_Missense_Mutation_p.G175R	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	185	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.G185*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTTTGGAGTCCAAAAAGAGCT	0.448																																																	1	Substitution - Nonsense(1)	kidney(1)	5											187.0	194.0	192.0					5																	83402565		2203	4300	6503	83438321	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.553G>A	5.37:g.83402565C>T	ENSP00000296591:p.Gly185Arg		83438321	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264859	0.95399	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98419	-4.92;-4.92	5.55	5.55	0.83447	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.050150	0.85682	D	0.000000	D	0.99020	0.9665	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.99833	1.1055	10	0.87932	D	0	-18.9715	19.5157	0.95162	0.0:1.0:0.0:0.0	.	175;185	O43854-2;O43854	.;EDIL3_HUMAN	R	185;175	ENSP00000296591:G185R;ENSP00000369483:G175R	ENSP00000296591:G185R	G	-	1	0	EDIL3	83438321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.277000	0.78572	2.630000	0.89119	0.650000	0.86243	GGA		0.448	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	
GPR98	84059	hgsc.bcm.edu	37	5	90106134	90106134	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:90106134T>A	ENST00000405460.2	+	74	15153	c.15057T>A	c.(15055-15057)gaT>gaA	p.D5019E	GPR98_ENST00000425867.2_Missense_Mutation_p.D680E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5019	Calx-beta 33. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTCAGAAGATACACAGATGA	0.393																																																	0			5											43.0	41.0	41.0					5																	90106134		1844	4095	5939	90141890	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15057T>A	5.37:g.90106134T>A	ENSP00000384582:p.Asp5019Glu		90141890	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	7.053	0.564755	0.13498	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.36699	1.24;1.24	5.47	-3.68	0.04463	Na-Ca exchanger/integrin-beta4 (2);	0.269242	0.46758	N	0.000270	T	0.18882	0.0453	L	0.45422	1.42	0.09310	N	0.999996	B;B;B	0.21606	0.058;0.003;0.047	B;B;B	0.19666	0.026;0.016;0.015	T	0.08743	-1.0707	9	.	.	.	.	0.596	0.00736	0.3222:0.1898:0.1105:0.3775	.	680;5019;680	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	E	5019;5019;680	ENSP00000384582:D5019E;ENSP00000392618:D680E	.	D	+	3	2	GPR98	90141890	0.067000	0.21026	0.013000	0.15412	0.246000	0.25737	0.285000	0.18883	-0.406000	0.07588	0.455000	0.32223	GAT		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
PHAX	51808	hgsc.bcm.edu	37	5	125939833	125939833	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:125939833C>T	ENST00000297540.4	+	2	1363	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	223	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GAGATCACAGCGGAAGATTCT	0.403																																																	0			5											55.0	53.0	54.0					5																	125939833		2203	4300	6503	125967732	SO:0001583	missense	51808			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.668C>T	5.37:g.125939833C>T	ENSP00000297540:p.Ala223Val		125967732	Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173669	0.57584	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.44083	0.93	5.74	4.58	0.56647	.	0.046754	0.85682	D	0.000000	T	0.26122	0.0637	N	0.14661	0.345	0.27215	N	0.959804	B	0.28880	0.226	B	0.20577	0.03	T	0.13124	-1.0521	10	0.49607	T	0.09	-36.4872	13.1106	0.59270	0.8647:0.1353:0.0:0.0	.	223	Q9H814	PHAX_HUMAN	V	223;188	ENSP00000297540:A223V	ENSP00000297540:A223V	A	+	2	0	PHAX	125967732	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.940000	0.63533	1.008000	0.39264	-0.256000	0.11100	GCG		0.403	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177	
KIF3A	11127	hgsc.bcm.edu	37	5	132037846	132037846	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:132037846C>T	ENST00000378746.4	-	13	1954	c.1736G>A	c.(1735-1737)cGg>cAg	p.R579Q	KIF3A_ENST00000403231.1_Missense_Mutation_p.R606Q|KIF3A_ENST00000378735.1_Missense_Mutation_p.R582Q|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000487055.1_5'UTR	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	579					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTAAGTTGCCGAATGTTCTC	0.403																																																	0			5											81.0	83.0	82.0					5																	132037846		2203	4300	6503	132065745	SO:0001583	missense	11127			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1736G>A	5.37:g.132037846C>T	ENSP00000368020:p.Arg579Gln		132065745	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	37	6.040565	0.97226	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231	T;T;T	0.09163	3.01;3.01;3.01	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;P;P	0.64042	0.921;0.921;0.598;0.885	T	0.19353	-1.0308	10	0.72032	D	0.01	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	606;606;579;605	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	Q	579;582;606;606	ENSP00000368020:R579Q;ENSP00000368009:R582Q;ENSP00000385808:R606Q	ENSP00000368009:R582Q	R	-	2	0	KIF3A	132065745	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	CGG		0.403	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054	
SHROOM1	134549	hgsc.bcm.edu	37	5	132159097	132159097	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:132159097G>A	ENST00000378679.3	-	9	2875	c.2071C>T	c.(2071-2073)Cgc>Tgc	p.R691C	SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R691C|SHROOM1_ENST00000378676.1_Missense_Mutation_p.R622C	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	691	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGCCTGGCGCACTGCAGCC	0.677																																																	0			5											14.0	16.0	15.0					5																	132159097		2188	4279	6467	132186996	SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2071C>T	5.37:g.132159097G>A	ENSP00000367950:p.Arg691Cys		132186996	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389641	0.42410	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.31247	1.5;1.5;1.5	4.91	-3.18	0.05186	Apx/shroom, ASD2 (2);	0.891913	0.09934	N	0.736875	T	0.27765	0.0683	L	0.27053	0.805	0.25495	N	0.987606	D;D	0.71674	0.998;0.992	P;P	0.54174	0.627;0.744	T	0.28427	-1.0044	10	0.62326	D	0.03	-2.3471	7.159	0.25652	0.0:0.1929:0.4769:0.3302	.	691;691	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	C	691;691;622	ENSP00000367950:R691C;ENSP00000324245:R691C;ENSP00000367947:R622C	ENSP00000324245:R691C	R	-	1	0	SHROOM1	132186996	0.011000	0.17503	0.028000	0.17463	0.433000	0.31745	0.573000	0.23699	-0.371000	0.08004	-0.410000	0.06199	CGC		0.677	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456	
AFF4	27125	hgsc.bcm.edu	37	5	132232053	132232053	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:132232053A>G	ENST00000265343.5	-	11	2648	c.2269T>C	c.(2269-2271)Tca>Cca	p.S757P	AFF4_ENST00000378595.3_Missense_Mutation_p.S757P	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	757			S -> T (found in a clear cell renal carcinoma case; somatic mutation). {ECO:0000269|PubMed:21248752}.		spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S757T(2)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTTTTTCTGAGGCTTGTTTC	0.423																																					Ovarian(126;889 1733 2942 10745 11605)												2	Substitution - Missense(2)	kidney(2)	5											111.0	113.0	112.0					5																	132232053		2203	4300	6503	132259952	SO:0001583	missense	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2269T>C	5.37:g.132232053A>G	ENSP00000265343:p.Ser757Pro		132259952	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087475	0.55968	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.69306	-0.39;-0.39	5.03	5.03	0.67393	.	0.386006	0.26658	N	0.023173	T	0.72236	0.3435	L	0.36672	1.1	0.52099	D	0.999948	D;B	0.63046	0.992;0.012	D;B	0.73708	0.981;0.023	T	0.68876	-0.5293	10	0.26408	T	0.33	-7.6975	13.6284	0.62181	1.0:0.0:0.0:0.0	.	757;757	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	P	757	ENSP00000265343:S757P;ENSP00000367858:S757P	ENSP00000265343:S757P	S	-	1	0	AFF4	132259952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.773000	0.62331	2.012000	0.59069	0.533000	0.62120	TCA		0.423	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
CATSPER3	347732	hgsc.bcm.edu	37	5	134332023	134332023	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:134332023G>T	ENST00000282611.6	+	3	399	c.313G>T	c.(313-315)Gac>Tac	p.D105Y		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	105					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTCTATGTGGACCCCATCAA	0.488																																																	0			5											243.0	195.0	211.0					5																	134332023		2203	4300	6503	134359922	SO:0001583	missense	347732			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.313G>T	5.37:g.134332023G>T	ENSP00000282611:p.Asp105Tyr		134359922	Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746188	0.30955	.	.	ENSG00000152705	ENST00000282611	D	0.97256	-4.31	4.14	3.27	0.37495	Ion transport (1);	0.110360	0.40640	N	0.001044	D	0.97002	0.9021	L	0.51422	1.61	0.37036	D	0.896928	D	0.89917	1.0	D	0.79108	0.992	D	0.97070	0.9777	10	0.59425	D	0.04	-28.0523	7.7351	0.28810	0.1116:0.0:0.8884:0.0	.	105	Q86XQ3	CTSR3_HUMAN	Y	105	ENSP00000282611:D105Y	ENSP00000282611:D105Y	D	+	1	0	CATSPER3	134359922	1.000000	0.71417	0.998000	0.56505	0.055000	0.15305	2.505000	0.45424	1.329000	0.45376	0.561000	0.74099	GAC		0.488	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019	
PITX1	5307	hgsc.bcm.edu	37	5	134364640	134364640	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:134364640C>T	ENST00000265340.7	-	3	1190	c.774G>A	c.(772-774)tcG>tcA	p.S258S	PITX1_ENST00000506438.1_Silent_p.S258S	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	258	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		AAGCGCCCGGCGACATGGCCG	0.667																																																	0			5											59.0	57.0	58.0					5																	134364640		2203	4299	6502	134392539	SO:0001819	synonymous_variant	5307			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.774G>A	5.37:g.134364640C>T			134392539	A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	ENST00000265340.7	37	CCDS4182.1																																																																																				0.667	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3		
H2AFY	9555	hgsc.bcm.edu	37	5	134724634	134724634	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:134724634G>A	ENST00000511689.1	-	2	743	c.150C>T	c.(148-150)gcC>gcT	p.A50A	H2AFY_ENST00000304332.4_Silent_p.A50A|H2AFY_ENST00000312469.4_Silent_p.A50A|H2AFY_ENST00000510038.1_Silent_p.A50A|H2AFY_ENST00000423969.2_Silent_p.A50A	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	50	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGGACGGCGGCCATGTACA	0.542																																																	0			5											102.0	91.0	95.0					5																	134724634		2203	4300	6503	134752533	SO:0001819	synonymous_variant	9555			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.150C>T	5.37:g.134724634G>A			134752533	O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	CCDS4185.1																																																																																				0.542	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893	
TRPC7	57113	hgsc.bcm.edu	37	5	135692533	135692533	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:135692533G>A	ENST00000513104.1	-	2	825	c.543C>T	c.(541-543)caC>caT	p.H181H	TRPC7_ENST00000355180.3_Silent_p.H181H|TRPC7_ENST00000426057.2_Silent_p.H181H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	181					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGCAGGATGTGCACGATCT	0.602																																																	0			5											114.0	122.0	119.0					5																	135692533		2203	4296	6499	135720432	SO:0001819	synonymous_variant	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.543C>T	5.37:g.135692533G>A			135720432	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	8.574	0.880666	0.17467	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	T;T;T	0.70516	-0.49;-0.49;-0.49	5.26	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75068	-0.3448	7	0.72032	D	0.01	-25.8699	8.7666	0.34706	0.2909:0.0:0.7091:0.0	.	.	.	.	Y	181	ENSP00000330322:H181Y;ENSP00000367720:H181Y;ENSP00000424854:H181Y	ENSP00000330322:H181Y	H	-	1	0	TRPC7	135720432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.351000	0.44071	0.762000	0.33152	0.650000	0.86243	CAT		0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
KLHL3	26249	hgsc.bcm.edu	37	5	137034039	137034039	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:137034039C>T	ENST00000309755.4	-	4	743	c.300G>A	c.(298-300)acG>acA	p.T100T	KLHL3_ENST00000508657.1_Silent_p.T68T|KLHL3_ENST00000506491.1_Silent_p.T18T|KLHL3_ENST00000541417.1_5'UTR|KLHL3_ENST00000394937.3_Silent_p.T100T	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	100	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GCTTACTCAGCGTCTGCCCAT	0.413																																																	0			5											329.0	296.0	307.0					5																	137034039		2203	4300	6503	137061938	SO:0001819	synonymous_variant	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.300G>A	5.37:g.137034039C>T			137061938	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	CCDS4192.1																																																																																				0.413	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2		
PCDHA7	56141	hgsc.bcm.edu	37	5	140215694	140215694	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:140215694G>A	ENST00000525929.1	+	1	1726	c.1726G>A	c.(1726-1728)Gca>Aca	p.A576T	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A576T|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	576					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGTGGCGCAGTGAGAGA	0.662																																					NSCLC(160;258 2013 5070 22440 28951)												0			5											95.0	97.0	96.0					5																	140215694		2203	4300	6503	140195878	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1726G>A	5.37:g.140215694G>A	ENSP00000436426:p.Ala576Thr		140195878	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	1.242	-0.620930	0.03636	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.37235	1.21;1.21	4.2	-4.94	0.03057	Cadherin-like (1);	0.839395	0.09050	U	0.855921	T	0.11067	0.0270	N	0.03608	-0.345	0.09310	N	1	B;B	0.21452	0.056;0.043	B;B	0.15870	0.014;0.009	T	0.26573	-1.0099	10	0.17832	T	0.49	.	2.885	0.05659	0.1511:0.3407:0.3221:0.186	.	576;576	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	576	ENSP00000436426:A576T;ENSP00000367365:A576T	ENSP00000367365:A576T	A	+	1	0	PCDHA7	140195878	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.168000	0.09925	-0.652000	0.05408	0.462000	0.41574	GCA		0.662	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
PCDHA13	56136	hgsc.bcm.edu	37	5	140262567	140262567	+	Silent	SNP	C	C	T	rs139888237	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:140262567C>T	ENST00000289272.2	+	1	714	c.714C>T	c.(712-714)aaC>aaT	p.N238N	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.N238N|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N238N(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATGACAACGCCCCGGAAT	0.453													.|||	2	0.000399361	0.0	0.0	5008	,	,		19765	0.002		0.0	False		,,,				2504	0.0				Melanoma(147;1739 1852 5500 27947 37288)												1	Substitution - coding silent(1)	ovary(1)	5											67.0	65.0	66.0					5																	140262567		2203	4300	6503	140242751	SO:0001819	synonymous_variant	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.714C>T	5.37:g.140262567C>T			140242751	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																				0.453	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHB4	56131	hgsc.bcm.edu	37	5	140503131	140503131	+	Silent	SNP	G	G	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:140503131G>T	ENST00000194152.1	+	1	1551	c.1551G>T	c.(1549-1551)tcG>tcT	p.S517S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	517	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)			CCCTCAGGTCGCTGGACTACG	0.692																																																	0			5											58.0	65.0	63.0					5																	140503131		2197	4288	6485	140483315	SO:0001819	synonymous_variant	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.1551G>T	5.37:g.140503131G>T			140483315	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																				0.692	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
PCDHB8	56128	hgsc.bcm.edu	37	5	140559696	140559696	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:140559696C>T	ENST00000239444.2	+	1	2326	c.2081C>T	c.(2080-2082)gCg>gTg	p.A694V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	694					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTGGTGGCGTTGGCCTCG	0.672																																																	0			5											90.0	87.0	88.0					5																	140559696		2202	4298	6500	140539880	SO:0001583	missense	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2081C>T	5.37:g.140559696C>T	ENSP00000239444:p.Ala694Val		140539880	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437343	0.83885	.	.	ENSG00000120322	ENST00000239444	T	0.25250	1.81	4.22	3.34	0.38264	.	.	.	.	.	T	0.59059	0.2166	H	0.97051	3.93	0.09310	N	1	D	0.71674	0.998	P	0.62813	0.907	T	0.55373	-0.8151	9	0.87932	D	0	.	8.7671	0.34708	0.0:0.7627:0.1494:0.0879	.	694	Q9UN66	PCDB8_HUMAN	V	694	ENSP00000239444:A694V	ENSP00000239444:A694V	A	+	2	0	PCDHB8	140539880	0.003000	0.15002	0.007000	0.13788	0.455000	0.32408	2.044000	0.41241	1.915000	0.55452	0.298000	0.19748	GCG		0.672	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHGA1	56114	hgsc.bcm.edu	37	5	140712129	140712129	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:140712129G>A	ENST00000517417.1	+	1	1878	c.1878G>A	c.(1876-1878)gtG>gtA	p.V626V	PCDHGA1_ENST00000378105.3_Silent_p.V626V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGAGGTGCGCACGGCGC	0.701																																																	0			5											23.0	28.0	26.0					5																	140712129		2180	4254	6434	140692313	SO:0001819	synonymous_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1878G>A	5.37:g.140712129G>A			140692313	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.701	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA6	56109	hgsc.bcm.edu	37	5	140754304	140754304	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:140754304C>T	ENST00000517434.1	+	1	654	c.654C>T	c.(652-654)ggC>ggT	p.G218G	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	218	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGGCGGCGACCCTGTCC	0.562																																																	0			5											25.0	29.0	28.0					5																	140754304		2017	4170	6187	140734488	SO:0001819	synonymous_variant	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.654C>T	5.37:g.140754304C>T			140734488	A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	CCDS54926.1																																																																																				0.562	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919	
PCDHGA12	26025	hgsc.bcm.edu	37	5	140812235	140812235	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:140812235G>A	ENST00000252085.3	+	1	2051	c.1909G>A	c.(1909-1911)Gcg>Acg	p.A637T	PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGAGACGCGCTCAAGCA	0.697																																																	0			5											43.0	52.0	49.0					5																	140812235		2198	4293	6491	140792419	SO:0001583	missense	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1909G>A	5.37:g.140812235G>A	ENSP00000252085:p.Ala637Thr		140792419	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	14.05	2.420342	0.42918	.	.	ENSG00000253159	ENST00000252085	T	0.51325	0.71	5.06	3.24	0.37175	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33818	0.0876	N	0.25890	0.77	0.19775	N	0.999958	B;P	0.35481	0.448;0.504	B;B	0.33568	0.103;0.166	T	0.19647	-1.0299	9	0.56958	D	0.05	.	9.5179	0.39117	0.2332:0.0:0.7668:0.0	.	637;637	O60330-2;O60330	.;PCDGC_HUMAN	T	637	ENSP00000252085:A637T	ENSP00000252085:A637T	A	+	1	0	PCDHGA12	140792419	0.000000	0.05858	0.267000	0.24556	0.886000	0.51366	0.113000	0.15499	1.271000	0.44313	0.556000	0.70494	GCG		0.697	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
NR3C1	2908	hgsc.bcm.edu	37	5	142661457	142661457	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:142661457C>T	ENST00000343796.2	-	9	3324	c.2331G>A	c.(2329-2331)aaG>aaA	p.K777K	NR3C1_ENST00000424646.2_Silent_p.K751K|NR3C1_ENST00000503201.1_Silent_p.K777K|NR3C1_ENST00000394464.2_Silent_p.K777K|NR3C1_ENST00000394466.2_Silent_p.K778K|NR3C1_ENST00000416954.2_Silent_p.K380K|NR3C1_ENST00000504572.1_Silent_p.K778K|NR3C1_ENST00000415690.2_Intron|NR3C1_ENST00000231509.3_Silent_p.K778K	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	777	Interaction with CLOCK.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	AAGGCAGTCACTTTTGATGAA	0.313																																																	0			5											80.0	82.0	81.0					5																	142661457		2201	4300	6501	142641650	SO:0001819	synonymous_variant	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2331G>A	5.37:g.142661457C>T			142641650	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	CCDS4278.1																																																																																				0.313	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
SPINK5	11005	hgsc.bcm.edu	37	5	147449939	147449939	+	Silent	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:147449939C>T	ENST00000256084.7	+	3	177	c.135C>T	c.(133-135)ccC>ccT	p.P45P	SPINK5_ENST00000398454.1_Silent_p.P45P|SPINK5_ENST00000359874.3_Silent_p.P45P	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	45	Kazal-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTGTCCCCAGGATAAGA	0.323																																																	0			5											69.0	68.0	68.0					5																	147449939		1827	4073	5900	147430132	SO:0001819	synonymous_variant	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.135C>T	5.37:g.147449939C>T			147430132	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	ENST00000256084.7	37	CCDS43382.1																																																																																				0.323	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
AFAP1L1	134265	hgsc.bcm.edu	37	5	148687138	148687138	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:148687138G>A	ENST00000296721.4	+	7	807	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A237T|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	237	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCAGTGGGCCAAGCAGCT	0.617																																																	0			5											65.0	52.0	56.0					5																	148687138		2203	4300	6503	148667331	SO:0001583	missense	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.709G>A	5.37:g.148687138G>A	ENSP00000296721:p.Ala237Thr		148667331	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618541	0.87460	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.11712	2.75;2.75	4.89	4.89	0.63831	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.100619	0.64402	D	0.000002	T	0.19604	0.0471	N	0.25201	0.72	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.998	P;D;D	0.91635	0.895;0.999;0.995	T	0.12066	-1.0562	10	0.14656	T	0.56	-26.4255	18.243	0.89974	0.0:0.0:1.0:0.0	.	237;237;237	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	T	237	ENSP00000296721:A237T;ENSP00000424427:A237T	ENSP00000296721:A237T	A	+	1	0	AFAP1L1	148667331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.567000	0.73983	2.543000	0.85770	0.561000	0.74099	GCC		0.617	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406	
TENM2	57451	hgsc.bcm.edu	37	5	167626066	167626066	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:167626066T>G	ENST00000518659.1	+	16	3148	c.3109T>G	c.(3109-3111)Tcc>Gcc	p.S1037A	TENM2_ENST00000519204.1_Missense_Mutation_p.S916A|TENM2_ENST00000520394.1_Missense_Mutation_p.S805A|TENM2_ENST00000545108.1_Missense_Mutation_p.S1037A|TENM2_ENST00000403607.2_Missense_Mutation_p.S861A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1037					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTCCCCACTGTCCACCTTCTT	0.582																																																	0			5											69.0	72.0	71.0					5																	167626066		2061	4203	6264	167558644	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3109T>G	5.37:g.167626066T>G	ENSP00000429430:p.Ser1037Ala		167558644	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	T	18.42	3.620047	0.66787	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89196	-2.0;-2.0;-2.1;-2.46;-2.48	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	M	0.68317	2.08	0.45747	D	0.998645	D;D;D	0.71674	0.998;0.996;0.959	D;D;D	0.85130	0.997;0.992;0.909	D	0.90708	0.4625	10	0.15499	T	0.54	.	15.4567	0.75321	0.0:0.0:0.0:1.0	.	1037;1037;805	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	A	1037;1037;916;805;861	ENSP00000429430:S1037A;ENSP00000438635:S1037A;ENSP00000428964:S916A;ENSP00000427874:S805A;ENSP00000384905:S861A	ENSP00000384905:S861A	S	+	1	0	ODZ2	167558644	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.289000	0.72696	2.058000	0.61347	0.460000	0.39030	TCC		0.582	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
STK10	6793	hgsc.bcm.edu	37	5	171488267	171488267	+	Silent	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:171488267C>A	ENST00000176763.5	-	14	2431	c.2088G>T	c.(2086-2088)cgG>cgT	p.R696R		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	696					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTACAAAGTCCCGGTCCTGTG	0.587																																																	0			5											117.0	108.0	111.0					5																	171488267		2203	4300	6503	171420872	SO:0001819	synonymous_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2088G>T	5.37:g.171488267C>A			171420872	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	CCDS34290.1																																																																																				0.587	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
ERGIC1	57222	hgsc.bcm.edu	37	5	172341786	172341786	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:172341786T>C	ENST00000393784.3	+	5	459	c.320T>C	c.(319-321)aTc>aCc	p.I107T	ERGIC1_ENST00000326654.2_Missense_Mutation_p.I62T|ERGIC1_ENST00000523291.1_Missense_Mutation_p.I107T	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	107					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCATGAAGATCCCGCTGAAC	0.567																																																	0			5											65.0	63.0	64.0					5																	172341786		2203	4300	6503	172274392	SO:0001583	missense	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.320T>C	5.37:g.172341786T>C	ENSP00000377374:p.Ile107Thr		172274392	Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	ENST00000393784.3	37	CCDS34292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.474|6.474	0.455566|0.455566	0.12283|0.12283	.|.	.|.	ENSG00000113719|ENSG00000113719	ENST00000393784;ENST00000520326;ENST00000523291;ENST00000518247;ENST00000326654|ENST00000519567	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Domain of unknown function DUF1692 (1);|.	0.105585|.	0.64402|.	D|.	0.000004|.	T|T	0.47820|0.47820	0.1466|0.1466	N|N	0.13098|0.13098	0.295|0.295	0.80722|0.80722	D|D	1|1	B;D;B|.	0.69078|.	0.01;0.997;0.001|.	B;D;B|.	0.63283|.	0.01;0.913;0.005|.	T|T	0.44726|0.44726	-0.9309|-0.9309	9|5	0.12766|.	T|.	0.61|.	-21.8449|-21.8449	15.0738|15.0738	0.72059|0.72059	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	52;62;107|.	B4E0N6;Q969X5-3;Q969X5|.	.;.;ERGI1_HUMAN|.	T|P	107;107;107;62;62|96	.|.	ENSP00000325127:I62T|.	I|S	+|+	2|1	0|0	ERGIC1|ERGIC1	172274392|172274392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	7.638000|7.638000	0.83328|0.83328	2.028000|2.028000	0.59812|0.59812	0.533000|0.533000	0.62120|0.62120	ATC|TCC		0.567	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462	
CPEB4	80315	hgsc.bcm.edu	37	5	173372101	173372101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:173372101C>T	ENST00000265085.5	+	5	2868	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	CPEB4_ENST00000520867.1_Nonsense_Mutation_p.R447*|CPEB4_ENST00000334035.5_Nonsense_Mutation_p.R455*|CPEB4_ENST00000519835.1_Nonsense_Mutation_p.R447*|CPEB4_ENST00000522336.1_Nonsense_Mutation_p.R82*|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000517880.1_Nonsense_Mutation_p.R65*	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	472	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACGATATTCTCGAAAGGTGTT	0.488																																																	0			5											159.0	144.0	149.0					5																	173372101		2203	4300	6503	173304707	SO:0001587	stop_gained	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1414C>T	5.37:g.173372101C>T	ENSP00000265085:p.Arg472*		173304707	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Nonsense_Mutation	SNP	ENST00000265085.5	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911728	0.92178	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.029	19.4739	0.94976	0.0:1.0:0.0:0.0	.	.	.	.	X	472;447;455;447;82;65	.	ENSP00000265085:R472X	R	+	1	2	CPEB4	173304707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.034000	0.70933	2.697000	0.92050	0.655000	0.94253	CGA		0.488	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627	
DBN1	1627	hgsc.bcm.edu	37	5	176886218	176886218	+	Missense_Mutation	SNP	C	C	T	rs144418852		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:176886218C>T	ENST00000309007.5	-	11	1226	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	DBN1_ENST00000292385.5_Missense_Mutation_p.R338Q|DBN1_ENST00000512501.1_Missense_Mutation_p.R68Q|DBN1_ENST00000393563.4_Missense_Mutation_p.R68Q|DBN1_ENST00000393565.1_Missense_Mutation_p.R382Q	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	336					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACGGGCTCCGCGTGGGGAT	0.692																																																	0			5						C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	72.0	74.0	73.0		1007,1013	4.6	1.0	5	dbSNP_134	73	0,8600		0,0,4300	no	missense,missense	DBN1	NM_004395.3,NM_080881.2	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	336/650,338/652	176886218	2,13004	2203	4300	6503	176818824	SO:0001583	missense	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1007G>A	5.37:g.176886218C>T	ENSP00000308532:p.Arg336Gln		176818824	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847571	0.71603	4.54E-4	0.0	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.35973	1.46;1.44;1.46;1.28;1.42	4.58	4.58	0.56647	.	0.569295	0.17171	N	0.184295	T	0.43456	0.1248	N	0.24115	0.695	0.39161	D	0.962419	D;D;D;D	0.76494	0.999;0.998;0.997;0.998	P;P;P;P	0.62649	0.905;0.788;0.728;0.86	T	0.43212	-0.9405	10	0.48119	T	0.1	-10.4558	14.6573	0.68844	0.0:1.0:0.0:0.0	.	286;382;336;338	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	Q	336;338;382;68;68	ENSP00000308532:R336Q;ENSP00000292385:R338Q;ENSP00000377195:R382Q;ENSP00000423208:R68Q;ENSP00000377193:R68Q	ENSP00000292385:R338Q	R	-	2	0	DBN1	176818824	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	4.361000	0.59461	2.260000	0.74910	0.462000	0.41574	CGG		0.692	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881	
GRM6	2916	hgsc.bcm.edu	37	5	178413302	178413302	+	Silent	SNP	G	G	A	rs62638620	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:178413302G>A	ENST00000517717.1	-	9	1991	c.1953C>T	c.(1951-1953)gcC>gcT	p.A651A	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.A651A			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	651					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCCTGCGGGCGGCACAGACCG	0.642													G|||	19	0.00379393	0.003	0.0086	5008	,	,		17274	0.0		0.0089	False		,,,				2504	0.0																0			5						G		10,4396	16.8+/-37.8	0,10,2193	39.0	41.0	40.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1953	-10.0	0.0	5	dbSNP_129	40	59,8539	36.4+/-91.3	0,59,4240	no	coding-synonymous	GRM6	NM_000843.3		0,69,6433	AA,AG,GG		0.6862,0.227,0.5306		651/878	178413302	69,12935	2203	4299	6502	178345908	SO:0001819	synonymous_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1953C>T	5.37:g.178413302G>A			178345908		Silent	SNP	ENST00000517717.1	37	CCDS4442.1																																																																																				0.642	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
ZNF879	345462	hgsc.bcm.edu	37	5	178460359	178460359	+	Silent	SNP	C	C	T	rs555163702	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:178460359C>T	ENST00000444149.2	+	5	1598	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	470					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)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						CCCACTCAGGCGTTAATACTC	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		19495	0.001		0.0	False		,,,				2504	0.001																0			5											56.0	51.0	53.0					5																	178460359		692	1591	2283	178392965	SO:0001819	synonymous_variant	0			AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.1410C>T	5.37:g.178460359C>T			178392965		Silent	SNP	ENST00000444149.2	37	CCDS47352.1																																																																																				0.383	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374447.1	NM_001136116	
ZNF354C	30832	hgsc.bcm.edu	37	5	178506725	178506725	+	Missense_Mutation	SNP	G	G	A	rs545360275		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:178506725G>A	ENST00000315475.6	+	5	1598	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	431					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)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AATGAACATCGGAAAATTCAT	0.388																																																	0			5											75.0	81.0	79.0					5																	178506725		2203	4300	6503	178439331	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1292G>A	5.37:g.178506725G>A	ENSP00000324064:p.Arg431Gln		178439331	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	3.175	-0.169108	0.06461	.	.	ENSG00000177932	ENST00000315475	T	0.17691	2.26	4.22	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06508	0.0167	N	0.11106	0.095	0.28601	N	0.909138	B	0.18741	0.03	B	0.13407	0.009	T	0.40961	-0.9535	9	0.02654	T	1	-6.8972	5.8484	0.18679	0.4174:0.0:0.5826:0.0	.	431	Q86Y25	Z354C_HUMAN	Q	431	ENSP00000324064:R431Q	ENSP00000324064:R431Q	R	+	2	0	ZNF354C	178439331	0.002000	0.14202	0.902000	0.35471	0.945000	0.59286	1.153000	0.31676	0.531000	0.28639	0.591000	0.81541	CGG		0.388	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
BTNL9	153579	hgsc.bcm.edu	37	5	180475111	180475111	+	Silent	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:180475111G>A	ENST00000327705.9	+	3	525	c.294G>A	c.(292-294)ccG>ccA	p.P98P	BTNL9_ENST00000376842.3_Silent_p.P98P|BTNL9_ENST00000515271.1_Silent_p.P29P|BTNL9_ENST00000376841.2_Silent_p.P98P	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	98	Ig-like V-type.					integral component of membrane (GO:0016021)		p.P98P(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGATGCCGGCGTTCCGGA	0.582																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	5											64.0	53.0	57.0					5																	180475111		2203	4300	6503	180407717	SO:0001819	synonymous_variant	153579			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.294G>A	5.37:g.180475111G>A			180407717	A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	CCDS4460.2																																																																																				0.582	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547	
TRIM52	84851	hgsc.bcm.edu	37	5	180687262	180687262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:180687262G>A	ENST00000327767.4	-	1	857	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	185					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TTTCGGCACTGGGGGCAGGTG	0.552																																																	0			5											115.0	102.0	106.0					5																	180687262		2203	4300	6503	180619868	SO:0001587	stop_gained	84851				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.553C>T	5.37:g.180687262G>A	ENSP00000332152:p.Gln185*		180619868		Nonsense_Mutation	SNP	ENST00000327767.4	37	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	g	38	7.065139	0.98040	.	.	ENSG00000183718	ENST00000327767	.	.	.	3.5	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8539	0.24030	0.1089:0.1789:0.7121:0.0	.	.	.	.	X	185	.	.	Q	-	1	0	TRIM52	180619868	1.000000	0.71417	0.995000	0.50966	0.671000	0.39405	2.857000	0.48349	0.247000	0.21414	0.511000	0.50034	CAG		0.552	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765	
NF2	4771	hgsc.bcm.edu	37	22	30054176	30054176	+	Splice_Site	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:30054176A>G	ENST00000338641.4	+	7	1040		c.e7-1		NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000347330.5_Intron|NF2_ENST00000413209.2_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(6)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTCCCCACAGGGATGAAGC	0.507			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	6	Unknown(6)	soft_tissue(2)|meninges(1)|large_intestine(1)|stomach(1)|central_nervous_system(1)	22	GRCh37	CS951486	NF2	S							136.0	104.0	115.0					22																	30054176		2203	4300	6503	28384176	SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.600-1A>G	22.37:g.30054176A>G			28384176	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557763	0.86231	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7916	0.78369	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28384176	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.244000	0.95423	2.123000	0.65237	0.374000	0.22700	.		0.507	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron
MRPL13	28998	hgsc.bcm.edu	37	8	121444364	121444364	+	Splice_Site	SNP	C	C	G	rs376034901		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:121444364C>G	ENST00000306185.3	-	3	443		c.e3-1			NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13						translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCACAGTCACCTACATTTTAA	0.308																																																	0			8											92.0	89.0	90.0					8																	121444364		2203	4296	6499	121513545	SO:0001630	splice_region_variant	28998			AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.152-1G>C	8.37:g.121444364C>G			121513545	B2R4R8|Q9UI04	Splice_Site	SNP	ENST00000306185.3	37	CCDS6332.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574559	0.65878	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	6.05	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1468	0.65355	0.0:0.9274:0.0:0.0726	.	.	.	.	.	-1	.	.	.	-	.	.	MRPL13	121513545	1.000000	0.71417	0.988000	0.46212	0.807000	0.45602	7.093000	0.76937	1.580000	0.49851	0.573000	0.79308	.		0.308	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078	Intron
NRD1	4898	hgsc.bcm.edu	37	1	52285470	52285470	+	Splice_Site	SNP	A	A	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:52285470A>C	ENST00000354831.7	-	11	1685		c.e11+1		NRD1_ENST00000485608.1_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000544028.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGGTTCACAAACCTCTATAAA	0.328																																																	0			1											53.0	51.0	52.0					1																	52285470		2202	4300	6502	52058058	SO:0001630	splice_region_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1495+1T>G	1.37:g.52285470A>C			52058058	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	ENST00000354831.7	37	CCDS559.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370167	0.82573	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8637	0.63576	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52058058	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.300000	0.72776	2.083000	0.62718	0.533000	0.62120	.		0.328	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	Intron
GBP5	115362	hgsc.bcm.edu	37	1	89732028	89732028	+	Splice_Site	SNP	C	C	T	rs140405391		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:89732028C>T	ENST00000370459.3	-	6	996		c.e6+1		RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Splice_Site			Q96PP8	GBP5_HUMAN	guanylate binding protein 5							cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATAATACTCACGAGATCCATT	0.363																																																	0			1						C	,	0,4406		0,0,2203	69.0	68.0	68.0		,	4.4	0.2	1	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5	GBP5	NM_001134486.2,NM_052942.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,	89732028	1,13005	2203	4300	6503	89504616	SO:0001630	splice_region_variant	115362			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.868+1G>A	1.37:g.89732028C>T			89504616	B2RCE1|Q86TM5	Splice_Site	SNP	ENST00000370459.3	37	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	4.947	0.176000	0.09443	0.0	1.16E-4	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	.	.	.	5.3	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0571	0.42252	0.0:0.9095:0.0:0.0905	.	.	.	.	.	-1	.	.	.	-	.	.	GBP5	89504616	0.917000	0.31117	0.218000	0.23776	0.005000	0.04900	2.135000	0.42112	1.624000	0.50355	0.644000	0.83932	.		0.363	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942	Intron
ODF3	113746	hgsc.bcm.edu	37	11	199942	199942	+	Splice_Site	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:199942A>G	ENST00000325113.4	+	7	992		c.e7-1		ODF3_ENST00000525282.1_Splice_Site|BET1L_ENST00000410108.1_Intron	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCCTCTCCCAGGTGACCCTG	0.622																																																	0			11											109.0	81.0	90.0					11																	199942		2203	4300	6503	189942	SO:0001630	splice_region_variant	113746			AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"""cancer/testis antigen 135"""	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.676-1A>G	11.37:g.199942A>G			189942	B7ZLT0|Q69YX0	Splice_Site	SNP	ENST00000325113.4	37	CCDS7688.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497708	0.64186	.	.	ENSG00000177947	ENST00000325113;ENST00000540150;ENST00000525282	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9361	0.47247	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODF3	189942	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.735000	0.55044	2.072000	0.62099	0.454000	0.30748	.		0.622	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239287.1		Intron
GPHA2	170589	hgsc.bcm.edu	37	11	64702829	64702829	+	Splice_Site	SNP	C	C	T	rs528889811		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:64702829C>T	ENST00000279168.2	-	2	158		c.e2+1		GPHA2_ENST00000533257.1_Splice_Site|GPHA2_ENST00000532246.1_Splice_Site	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|prostate(1)	3						GAGGTACTCACGGTGCAAGTG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		18772	0.001		0.0	False		,,,				2504	0.0																0			11											42.0	38.0	39.0					11																	64702829		2201	4297	6498	64459405	SO:0001630	splice_region_variant	170589			AF260739	CCDS8086.1	11q13.1	2008-07-18				ENSG00000149735			18054	protein-coding gene	gene with protein product	"""glycoprotein alpha 2"", ""cysteine knot protein"""	609651				11809971	Standard	NM_130769		Approved	GPA2, ZSIG51, A2, MGC126572	uc001oca.3	Q96T91		ENST00000279168.2:c.103+1G>A	11.37:g.64702829C>T			64459405	Q52LE2	Splice_Site	SNP	ENST00000279168.2	37	CCDS8086.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991563	0.74703	.	.	ENSG00000149735	ENST00000279168;ENST00000533257;ENST00000532246	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2376	0.65937	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPHA2	64459405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.730000	0.68546	2.298000	0.77334	0.655000	0.94253	.		0.637	GPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385470.1	NM_130769	Intron
PGM3	5238	hgsc.bcm.edu	37	6	83892563	83892563	+	Splice_Site	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:83892563C>T	ENST00000283977.4	-	4	475		c.e4+1		PGM3_ENST00000513973.1_Splice_Site|PGM3_ENST00000506587.1_Splice_Site|PGM3_ENST00000512866.1_Splice_Site					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AAACTTTTCACCTGTTTGGTG	0.378																																																	0			6											108.0	108.0	108.0					6																	83892563		2203	4300	6503	83949282	SO:0001630	splice_region_variant	5238			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.348+1G>A	6.37:g.83892563C>T			83949282		Splice_Site	SNP	ENST00000283977.4	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.597524	0.87055	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000510258	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6376	0.95740	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGM3	83949282	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	7.419000	0.80179	2.647000	0.89833	0.557000	0.71058	.		0.378	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599	Intron
MORC1	27136	hgsc.bcm.edu	37	3	108677968	108677968	+	Splice_Site	SNP	C	C	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:108677968C>A	ENST00000483760.1	-	27	2780		c.e27-1		MORC1_ENST00000232603.5_Splice_Site					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTGGACCACCCTGGAAAAGAG	0.428																																																	0			3											38.0	40.0	39.0					3																	108677968		2202	4298	6500	110160658	SO:0001630	splice_region_variant	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2737-1G>T	3.37:g.108677968C>A			110160658		Splice_Site	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	19.69	3.875444	0.72180	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8227	0.63333	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORC1	110160658	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.298000	0.51818	2.648000	0.89879	0.557000	0.71058	.		0.428	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		Intron
MEMO1	51072	hgsc.bcm.edu	37	2	32157135	32157135	+	Splice_Site	SNP	C	C	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:32157135C>T	ENST00000295065.5	-	3	522		c.e3+1		MEMO1_ENST00000407893.3_Splice_Site|MEMO1_ENST00000379383.3_Splice_Site|MEMO1_ENST00000490459.1_Splice_Site|DPY30_ENST00000446765.1_Splice_Site|MEMO1_ENST00000404530.1_Splice_Site|MEMO1_ENST00000426310.2_Intron	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1						regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ACATTACTTACGTAATAGACG	0.313																																																	0			2											78.0	79.0	78.0					2																	32157135		2203	4300	6503	32010639	SO:0001630	splice_region_variant	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.212+1G>A	2.37:g.32157135C>T			32010639	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Splice_Site	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995277	0.74703	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000407893	.	.	.	5.71	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4281	0.83831	0.0:0.8683:0.1317:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEMO1	32010639	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.661000	0.68025	1.396000	0.46663	0.563000	0.77884	.		0.313	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955	Intron
SCN9A	6335	hgsc.bcm.edu	37	2	167108273	167108273	+	Splice_Site	SNP	A	A	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:167108273A>G	ENST00000409435.1	-	17	3472		c.e17+1		AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Splice_Site|SCN9A_ENST00000303354.6_Splice_Site|SCN9A_ENST00000409672.1_Splice_Site			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit						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)	TTTTTGTCTTACCATCTGTGA	0.453																																																	0			2											103.0	98.0	100.0					2																	167108273		1887	4116	6003	166816519	SO:0001630	splice_region_variant	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.3472+1T>C	2.37:g.167108273A>G			166816519	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Splice_Site	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917298	0.73098	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1632	0.72801	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN9A	166816519	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.678000	0.91211	2.221000	0.72209	0.528000	0.53228	.		0.453	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	Intron
NADK	65220	hgsc.bcm.edu	37	1	1688567	1688568	+	Intron	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:1688567_1688568insC	ENST00000341426.5	-	4	615				NADK_ENST00000378625.1_Frame_Shift_Ins_p.A253fs|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000344463.4_Frame_Shift_Ins_p.A253fs|NADK_ENST00000492768.1_Intron	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GTGGATGGAGGCCCCCCCAACT	0.663																																																	0			1																																								1678428	SO:0001627	intron_variant	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.393+51->G	1.37:g.1688574_1688574dupC			1678427	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Frame_Shift_Ins	INS	ENST00000341426.5	37	CCDS30565.1																																																																																				0.663	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018	
RPL22	6146	hgsc.bcm.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																			Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)	1											62.0	55.0	57.0					1																	6257785		2203	4300	6503	6180372	SO:0001589	frameshift_variant	6146			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs		6180372	B2R495|Q6IBD1	Frame_Shift_Del	DEL	ENST00000234875.4	37	CCDS58.1																																																																																				0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983	
TCEB3	6924	hgsc.bcm.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:24078404delA	ENST00000418390.2	+	4	1658	c.1387delA	c.(1387-1389)aaafs	p.K464fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.K438fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	464					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.N439fs*19(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TAAAGGACTTAAAAAAAATGA	0.413											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Deletion - Frameshift(1)	large_intestine(1)	1											70.0	83.0	79.0					1																	24078404		2195	4299	6494	23950991	SO:0001589	frameshift_variant	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1387delA	1.37:g.24078404delA	ENSP00000395574:p.Lys464fs	768	23950991	B2R7Q8|Q8IXH1	Frame_Shift_Del	DEL	ENST00000418390.2	37	CCDS239.2																																																																																				0.413	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198	
WDTC1	23038	hgsc.bcm.edu	37	1	27621107	27621108	+	Frame_Shift_Ins	INS	-	-	G	rs145339479		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:27621107_27621108insG	ENST00000319394.3	+	9	1395_1396	c.860_861insG	c.(859-864)atggggfs	p.MG287fs	WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.MG287fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	287					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.54																																																	0			1								21,4245		0,21,2112						5.7	1.0			69	14,8240		0,14,4113	no	frameshift	WDTC1	NM_015023.3		0,35,6225	A1A1,A1R,RR		0.1696,0.4923,0.2796				35,12485				27493695	SO:0001589	frameshift_variant	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.868dupG	1.37:g.27621115_27621115dupG	ENSP00000317971:p.Met287fs		27493694	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Frame_Shift_Ins	INS	ENST00000319394.3	37																																																																																					0.540	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023	
KHDRBS1	10657	hgsc.bcm.edu	37	1	32503459	32503459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:32503459delG	ENST00000327300.7	+	6	1096	c.929delG	c.(928-930)cggfs	p.R310fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.R271fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGACCACCTCGGGGGGCTTTG	0.502																																					Ovarian(173;401 1982 12359 31110 42403)												0			1											90.0	100.0	97.0					1																	32503459		2203	4300	6503	32276046	SO:0001589	frameshift_variant	10657			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.929delG	1.37:g.32503459delG	ENSP00000313829:p.Arg310fs		32276046		Frame_Shift_Del	DEL	ENST00000327300.7	37	CCDS350.1																																																																																				0.502	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559	
KIAA0319L	79932	hgsc.bcm.edu	37	1	35972480	35972480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:35972480delT	ENST00000325722.3	-	3	633	c.399delA	c.(397-399)aaafs	p.K133fs		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	133						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGTTTGGAATTTTTTTAAAA	0.512																																																	0			1											72.0	81.0	78.0					1																	35972480		2203	4300	6503	35745067	SO:0001589	frameshift_variant	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.399delA	1.37:g.35972480delT	ENSP00000318406:p.Lys133fs		35745067	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Frame_Shift_Del	DEL	ENST00000325722.3	37	CCDS390.1																																																																																				0.512	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874	
NRD1	4898	hgsc.bcm.edu	37	1	52344009	52344009	+	Frame_Shift_Del	DEL	C	C	-	rs143307071	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:52344009delC	ENST00000354831.7	-	1	468	c.279delG	c.(277-279)gggfs	p.G93fs	NRD1_ENST00000539524.1_5'Flank|NRD1_ENST00000352171.7_Frame_Shift_Del_p.G93fs|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	93					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TACTGAGAGACCCCCTCCGTC	0.612																																																	0			1											70.0	72.0	72.0					1																	52344009		2203	4300	6503	52116597	SO:0001589	frameshift_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.279delG	1.37:g.52344009delC	ENSP00000346890:p.Gly93fs		52116597	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	CCDS559.1																																																																																				0.612	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
JAK1	3716	hgsc.bcm.edu	37	1	65306997	65306997	+	Frame_Shift_Del	DEL	T	T	-	rs202179869		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:65306997delT	ENST00000342505.4	-	19	2828	c.2580delA	c.(2578-2580)aaafs	p.K860fs	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	860					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAGTTGCTGGTTTTTTTTCTG	0.468			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0			1											93.0	93.0	93.0					1																	65306997		1870	4100	5970	65079585	SO:0001589	frameshift_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2580delA	1.37:g.65306997delT	ENSP00000343204:p.Lys860fs		65079585	Q59GQ2|Q9UD26	Frame_Shift_Del	DEL	ENST00000342505.4	37	CCDS41346.1																																																																																				0.468	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
JAK1	3716	hgsc.bcm.edu	37	1	65325833	65325833	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:65325833delG	ENST00000342505.4	-	9	1537	c.1289delC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GACGATCAACGGGGGGGCCAC	0.542			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0			1											95.0	99.0	98.0					1																	65325833		2012	4160	6172	65098421	SO:0001589	frameshift_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1289delC	1.37:g.65325833delG	ENSP00000343204:p.Pro430fs		65098421	Q59GQ2|Q9UD26	Frame_Shift_Del	DEL	ENST00000342505.4	37	CCDS41346.1																																																																																				0.542	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
LEPR	3953	hgsc.bcm.edu	37	1	66102459	66102460	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:66102459_66102460insAG	ENST00000349533.6	+	20	3444_3445	c.3259_3260insAG	c.(3259-3261)aagfs	p.K1087fs	LEPR_ENST00000406510.3_Frame_Shift_Ins_p.K154fs	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTCAATCAAAAAGAGAGAGAGT	0.421																																																	0			1																																								65875048	SO:0001589	frameshift_variant	54741			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3268_3269dupAG	1.37:g.66102468_66102469dupAG	ENSP00000330393:p.Lys1087fs		65875047	Q6FHL5	Frame_Shift_Ins	INS	ENST00000349533.6	37	CCDS631.1																																																																																				0.421	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
RPE65	6121	hgsc.bcm.edu	37	1	68903931	68903931	+	Frame_Shift_Del	DEL	T	T	-	rs281865520		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:68903931delT	ENST00000262340.5	-	10	1120	c.1067delA	c.(1066-1068)aatfs	p.N356fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	356					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTTTCTGGCATTTTTTTTCAC	0.348																																																	0			1	GRCh37	CD972436	RPE65	D							98.0	100.0	99.0					1																	68903931		2203	4300	6503	68676519	SO:0001589	frameshift_variant	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1067delA	1.37:g.68903931delT	ENSP00000262340:p.Asn356fs		68676519	A8K1L0|Q5T9U3	Frame_Shift_Del	DEL	ENST00000262340.5	37	CCDS643.1																																																																																				0.348	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
TYW3	127253	hgsc.bcm.edu	37	1	75218076	75218076	+	Frame_Shift_Del	DEL	A	A	-	rs200408383		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:75218076delA	ENST00000370867.3	+	5	616	c.527delA	c.(526-528)caafs	p.Q176fs	TYW3_ENST00000479111.1_Frame_Shift_Del_p.Q56fs|TYW3_ENST00000457880.2_Frame_Shift_Del_p.Q143fs|TYW3_ENST00000421739.2_Frame_Shift_Del_p.Q92fs	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	176					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GTGGCAAATCAAAAAATGGAG	0.348																																																	0			1											82.0	88.0	86.0					1																	75218076		2203	4300	6503	74990664	SO:0001589	frameshift_variant	127253			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.527delA	1.37:g.75218076delA	ENSP00000359904:p.Gln176fs		74990664	B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Frame_Shift_Del	DEL	ENST00000370867.3	37	CCDS666.1																																																																																				0.348	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467	
ODF2L	57489	hgsc.bcm.edu	37	1	86826142	86826142	+	Frame_Shift_Del	DEL	T	T	-	rs372782838		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:86826142delT	ENST00000359242.3	-	12	1502	c.1221delA	c.(1219-1221)aaafs	p.K407fs	ODF2L_ENST00000394731.1_Frame_Shift_Del_p.K247fs|ODF2L_ENST00000294678.2_Frame_Shift_Del_p.K378fs|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000370566.3_Frame_Shift_Del_p.K378fs|ODF2L_ENST00000370567.1_Frame_Shift_Del_p.K378fs|ODF2L_ENST00000317336.7_Frame_Shift_Del_p.K407fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	407						centrosome (GO:0005813)		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GGGTTTTCTGTTTTTTTTCTA	0.289																																																	2	Deletion - Frameshift(2)	lung(2)	1											87.0	92.0	90.0					1																	86826142		2202	4293	6495	86598730	SO:0001589	frameshift_variant	57489				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1221delA	1.37:g.86826142delT	ENSP00000359600:p.Lys407fs		86598730	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Frame_Shift_Del	DEL	ENST00000359242.3	37	CCDS41354.2																																																																																				0.289	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
EPHX4	253152	hgsc.bcm.edu	37	1	92511122	92511122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:92511122delG	ENST00000370383.4	+	4	607	c.509delG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GGCCATGACTGGGGGGGCATG	0.388																																					GBM(140;473 1857 5172 22066 49719)												0			1											213.0	184.0	194.0					1																	92511122		2203	4300	6503	92283710	SO:0001589	frameshift_variant	253152			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.509delG	1.37:g.92511122delG	ENSP00000359410:p.Trp170fs		92283710	Q8NCC6	Frame_Shift_Del	DEL	ENST00000370383.4	37	CCDS736.1																																																																																				0.388	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567	
CEPT1	10390	hgsc.bcm.edu	37	1	111703836	111703836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:111703836delT	ENST00000545121.1	+	4	755	c.547delT	c.(547-549)tttfs	p.F184fs	CEPT1_ENST00000357172.4_Frame_Shift_Del_p.F184fs	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	184					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.C185fs*26(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TGATTGGATGTTTTTTTGTTG	0.383																																																	1	Deletion - Frameshift(1)	large_intestine(1)	1											234.0	234.0	234.0					1																	111703836		2203	4300	6503	111505359	SO:0001589	frameshift_variant	10390			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.547delT	1.37:g.111703836delT	ENSP00000441980:p.Phe184fs		111505359	Q69YJ9|Q9P0Y8	Frame_Shift_Del	DEL	ENST00000545121.1	37	CCDS830.1																																																																																				0.383	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090	
PHTF1	10745	hgsc.bcm.edu	37	1	114248545	114248546	+	Frame_Shift_Ins	INS	-	-	A	rs201254988		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:114248545_114248546insA	ENST00000369604.1	-	13	2120_2121	c.1637_1638insT	c.(1636-1638)ttcfs	p.F546fs	PHTF1_ENST00000369600.1_Frame_Shift_Ins_p.F493fs|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000393357.2_Frame_Shift_Ins_p.F546fs|PHTF1_ENST00000357783.2_Frame_Shift_Ins_p.F546fs|PHTF1_ENST00000369596.2_Frame_Shift_Ins_p.F493fs|PHTF1_ENST00000369598.1_Frame_Shift_Ins_p.F501fs			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	546					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACATCATGAAAAAAAACAT	0.327																																																	0			1																																								114050069	SO:0001589	frameshift_variant	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1638dupT	1.37:g.114248553_114248553dupA	ENSP00000358617:p.Phe546fs		114050068	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Frame_Shift_Ins	INS	ENST00000369604.1	37	CCDS861.1																																																																																				0.327	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608	
NGF	4803	hgsc.bcm.edu	37	1	115828721	115828722	+	Frame_Shift_Del	DEL	CA	CA	-	rs142696332		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CA	CA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:115828721_115828722delCA	ENST00000369512.2	-	3	863_864	c.695_696delTG	c.(694-696)gtgfs	p.V232fs	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	232					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCTGAGCACACACACACA	0.579																																																	0			1																																								115630245	SO:0001589	frameshift_variant	4803				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.695_696delTG	1.37:g.115828731_115828732delCA	ENSP00000358525:p.Val232fs		115630244	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Frame_Shift_Del	DEL	ENST00000369512.2	37	CCDS882.1																																																																																				0.579	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506	
HIST2H2AB	317772	hgsc.bcm.edu	37	1	149859099	149859100	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CT	CT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:149859099_149859100delCT	ENST00000331128.3	-	1	366_367	c.367_368delAG	c.(367-369)agtfs	p.S123fs	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	123						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGGCTTGTGACTCTCCGTTTTC	0.505																																																	0			1																																								148125724	SO:0001589	frameshift_variant	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.367_368delAG	1.37:g.149859101_149859102delCT	ENSP00000332790:p.Ser123fs		148125723		Frame_Shift_Del	DEL	ENST00000331128.3	37	CCDS938.1																																																																																				0.505	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065	
MTMR11	10903	hgsc.bcm.edu	37	1	149908497	149908498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:149908497_149908498insG	ENST00000439741.2	-	1	293_294	c.43_44insC	c.(43-45)cagfs	p.Q15fs	MTMR11_ENST00000369140.3_5'Flank|MTMR11_ENST00000361405.6_Frame_Shift_Ins_p.Q15fs|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	15							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ctcctccttctGGGGGGCAATG	0.579																																																	0			1																																								148175122	SO:0001589	frameshift_variant	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.44dupC	1.37:g.149908503_149908503dupG	ENSP00000391668:p.Gln15fs		148175121	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Frame_Shift_Ins	INS	ENST00000439741.2	37	CCDS53360.1																																																																																				0.579	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873	
INSRR	3645	hgsc.bcm.edu	37	1	156815041	156815041	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:156815041delC	ENST00000368195.3	-	12	2660	c.2264delG	c.(2263-2265)ggcfs	p.G755fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	755					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGAGCTGTTGCCCCCCAGCCG	0.687																																																	0			1											17.0	19.0	18.0					1																	156815041		2200	4295	6495	155081665	SO:0001589	frameshift_variant	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2264delG	1.37:g.156815041delC	ENSP00000357178:p.Gly755fs		155081665	O60724|Q5VZS3	Frame_Shift_Del	DEL	ENST00000368195.3	37	CCDS1160.1																																																																																				0.687	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
OR6P1	128366	hgsc.bcm.edu	37	1	158533298	158533299	+	Frame_Shift_Ins	INS	-	-	AA	rs201077183		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:158533298_158533299insAA	ENST00000334632.1	-	1	95_96	c.96_97insTT	c.(94-99)tttgcafs	p.A33fs		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|lung(1)	6						AGGTAAATTGCAAAAAAAAGGA	0.47																																																	0			1																																								156799923	SO:0001589	frameshift_variant	128366			BK004193	CCDS53391.1	1q23.1	2012-08-09			ENSG00000186440	ENSG00000186440		"""GPCR / Class A : Olfactory receptors"""	15036	protein-coding gene	gene with protein product							Standard	NM_001160325		Approved		uc010pim.2	Q8NGX9	OTTHUMG00000019633	ENST00000334632.1:c.95_96dupTT	1.37:g.158533305_158533306dupAA	ENSP00000334721:p.Ala33fs		156799922	Q6IFR9	Frame_Shift_Ins	INS	ENST00000334632.1	37	CCDS53391.1																																																																																				0.470	OR6P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051848.1		
OR10Z1	128368	hgsc.bcm.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(259-261)gggfs	p.G87fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	87						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554																																																	0			1																																								156843111	SO:0001589	frameshift_variant	128368			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.265dupG	1.37:g.158576493_158576493dupG	ENSP00000354707:p.Gly87fs		156843110	Q5VYL0|Q6IFR7	Frame_Shift_Ins	INS	ENST00000361284.1	37	CCDS30901.1																																																																																				0.554	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
OR10Z1	128368	hgsc.bcm.edu	37	1	158576757	158576757	+	Frame_Shift_Del	DEL	T	T	-	rs201551156		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:158576757delT	ENST00000361284.1	+	1	529	c.529delT	c.(529-531)tttfs	p.F178fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	178						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AATCCAGCACTTTTTTTGTGA	0.493																																																	0			1								1,4261		0,1,2130	114.0	103.0	107.0			3.5	1.0	1		107	0,8252		0,0,4126	no	frameshift	OR10Z1	NM_001004478.1		0,1,6256	A1A1,A1R,RR		0.0,0.0235,0.0080			158576757	1,12513	2203	4300	6503	156843381	SO:0001589	frameshift_variant	128368			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.529delT	1.37:g.158576757delT	ENSP00000354707:p.Phe178fs		156843381	Q5VYL0|Q6IFR7	Frame_Shift_Del	DEL	ENST00000361284.1	37	CCDS30901.1																																																																																				0.493	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
LGR6	59352	hgsc.bcm.edu	37	1	202287206	202287206	+	Frame_Shift_Del	DEL	T	T	-	rs788795|rs113146160	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:202287206delT	ENST00000367278.3	+	18	1864	c.1775delT	c.(1774-1776)gtcfs	p.V592fs	LGR6_ENST00000255432.7_Frame_Shift_Del_p.V540fs|LGR6_ENST00000439764.2_Frame_Shift_Del_p.V453fs	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	592			V -> A (in dbSNP:rs788795). {ECO:0000269|PubMed:12975309, ECO:0000269|Ref.5}.		G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCGGGCCTGTCCCCCTGCCC	0.622																																																	0			1											87.0	75.0	79.0					1																	202287206		2203	4300	6503	200553829	SO:0001589	frameshift_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1775delT	1.37:g.202287206delT	ENSP00000356247:p.Val592fs		200553829	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Frame_Shift_Del	DEL	ENST00000367278.3	37	CCDS30971.1																																																																																				0.622	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	
KLHL12	59349	hgsc.bcm.edu	37	1	202880212	202880212	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:202880212delG	ENST00000367261.3	-	5	905	c.687delC	c.(685-687)cccfs	p.P229fs	KLHL12_ENST00000435533.3_Frame_Shift_Del_p.P267fs|KLHL12_ENST00000367259.1_5'Flank	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	229	BACK.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGATATACCTGGGGGTTAGTA	0.453																																																	0			1											153.0	149.0	150.0					1																	202880212		2203	4300	6503	201146835	SO:0001589	frameshift_variant	59349			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.687delC	1.37:g.202880212delG	ENSP00000356230:p.Pro229fs		201146835	A6NEN8|B7Z7B8|Q9HBX5	Frame_Shift_Del	DEL	ENST00000367261.3	37	CCDS1429.1																																																																																				0.453	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633	
PIK3C2B	5287	hgsc.bcm.edu	37	1	204419065	204419065	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:204419065delG	ENST00000367187.3	-	14	2703	c.2147delC	c.(2146-2148)ccafs	p.P717fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.P717fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	717	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCTCCCCGGTGGGGGGATGGG	0.617																																																	0			1											25.0	28.0	27.0					1																	204419065		2203	4300	6503	202685688	SO:0001589	frameshift_variant	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2147delC	1.37:g.204419065delG	ENSP00000356155:p.Pro717fs		202685688	O95666|Q5SW99	Frame_Shift_Del	DEL	ENST00000367187.3	37	CCDS1446.1																																																																																				0.617	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
PROX1	5629	hgsc.bcm.edu	37	1	214178556	214178556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:214178556delT	ENST00000366958.4	+	3	2382	c.1774delT	c.(1774-1776)tttfs	p.F593fs	PROX1_ENST00000261454.4_Frame_Shift_Del_p.F593fs|PROX1_ENST00000498508.2_Frame_Shift_Del_p.F593fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.F593fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	593					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAAGCTCATGTTTTTTTATAC	0.383																																																	0			1											120.0	120.0	120.0					1																	214178556		2203	4300	6503	212245179	SO:0001589	frameshift_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1774delT	1.37:g.214178556delT	ENSP00000355925:p.Phe593fs		212245179	A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Del	DEL	ENST00000366958.4	37	CCDS31021.1																																																																																				0.383	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763	
PCNXL2	80003	hgsc.bcm.edu	37	1	233344392	233344393	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:233344392_233344393insA	ENST00000258229.9	-	13	2968_2969	c.2734_2735insT	c.(2734-2736)tgtfs	p.C912fs	PCNXL2_ENST00000430153.1_Frame_Shift_Ins_p.C211fs|PCNXL2_ENST00000488780.2_Frame_Shift_Ins_p.C45fs	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	912						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACACAGCACACAAAAATAGATT	0.406																																																	0			1																																								231411016	SO:0001589	frameshift_variant	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2735dupT	1.37:g.233344397_233344397dupA	ENSP00000258229:p.Cys912fs		231411015	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Frame_Shift_Ins	INS	ENST00000258229.9	37	CCDS44335.1																																																																																				0.406	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
ARID4B	51742	hgsc.bcm.edu	37	1	235345419	235345419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:235345419delT	ENST00000264183.3	-	20	3312	c.2815delA	c.(2815-2817)acgfs	p.T939fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.T853fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.T939fs|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	939					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTTCAGCGTTTTTTTAGGC	0.473																																																	0			1											62.0	66.0	65.0					1																	235345419		2203	4300	6503	233412042	SO:0001589	frameshift_variant	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2815delA	1.37:g.235345419delT	ENSP00000264183:p.Thr939fs		233412042	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	CCDS31061.1																																																																																				0.473	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	
CEP170	9859	hgsc.bcm.edu	37	1	243388560	243388560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:243388560delA	ENST00000366542.1	-	2	74	c.23delT	c.(22-24)ttgfs	p.L8fs	CEP170_ENST00000366544.1_Frame_Shift_Del_p.L8fs|CEP170_ENST00000366543.1_Frame_Shift_Del_p.L8fs|AC092782.1_ENST00000596590.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	8						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ACTGCTCACCAAAAACCAGGA	0.428																																																	0			1											54.0	55.0	55.0					1																	243388560		1937	4149	6086	241455183	SO:0001589	frameshift_variant	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.23delT	1.37:g.243388560delA	ENSP00000355500:p.Leu8fs		241455183	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Frame_Shift_Del	DEL	ENST00000366542.1	37	CCDS44339.1																																																																																				0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
TPO	7173	hgsc.bcm.edu	37	2	1507747	1507748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:1507747_1507748insC	ENST00000345913.4	+	14	2505_2506	c.2414_2415insC	c.(2413-2418)caccccfs	p.HP805fs	TPO_ENST00000337415.3_Frame_Shift_Ins_p.HP805fs|TPO_ENST00000382201.3_Frame_Shift_Ins_p.HP748fs|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Frame_Shift_Ins_p.HP805fs|TPO_ENST00000346956.3_Intron|TPO_ENST00000349624.3_Frame_Shift_Ins_p.HP632fs|TPO_ENST00000382198.1_Frame_Shift_Ins_p.HP632fs	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	805	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.H805L(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACGGTGCCCACCCCCCCTGCC	0.644																																																	1	Substitution - Missense(1)	ovary(1)	2																																								1486755	SO:0001589	frameshift_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2421dupC	2.37:g.1507754_1507754dupC	ENSP00000318820:p.His805fs		1486754	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Frame_Shift_Ins	INS	ENST00000345913.4	37	CCDS1643.1																																																																																				0.644	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
SMC6	79677	hgsc.bcm.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343																																																	0			2											82.0	78.0	80.0					2																	17898126		2203	4297	6500	17761607	SO:0001589	frameshift_variant	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1228delA	2.37:g.17898126delT	ENSP00000404092:p.Ile410fs		17761607	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	37	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624	
ATRAID	51374	hgsc.bcm.edu	37	2	27440847	27440848	+	IGR	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:27440847_27440848insC	ENST00000606999.1	+	0	956				CAD_ENST00000403525.1_Frame_Shift_Ins_p.IP62fs|CAD_ENST00000264705.4_Frame_Shift_Ins_p.IP62fs	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											AACTATGGCATCCCCCCAGATG	0.495																																																	0			2																																								27294352	SO:0001628	intergenic_variant	1677			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405		2.37:g.27440853_27440853dupC			27294351	A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Frame_Shift_Ins	INS	ENST00000606999.1	37																																																																																					0.495	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085	
ZFP36L2	678	hgsc.bcm.edu	37	2	43452581	43452582	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:43452581_43452582insC	ENST00000282388.3	-	2	654_655	c.361_362insG	c.(361-363)gacfs	p.D121fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	121					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				AAACGAGCGGTCCCGGAATTTG	0.688																																																	0			2																																								43306086	SO:0001589	frameshift_variant	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.362dupG	2.37:g.43452584_43452584dupC	ENSP00000282388:p.Asp121fs		43306085	Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	CCDS1811.1																																																																																				0.688	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887	
VRK2	7444	hgsc.bcm.edu	37	2	58373509	58373509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:58373509delA	ENST00000435505.2	+	15	1827	c.1082delA	c.(1081-1083)gaafs	p.E361fs	VRK2_ENST00000440705.2_Frame_Shift_Del_p.E338fs|VRK2_ENST00000412104.2_Frame_Shift_Del_p.E361fs|VRK2_ENST00000340157.4_Frame_Shift_Del_p.E361fs|VRK2_ENST00000417641.2_Frame_Shift_Del_p.E361fs			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	361					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AGGTTAATCGAAAAAAAAGTC	0.383																																																	0			2											142.0	148.0	146.0					2																	58373509		2203	4300	6503	58227013	SO:0001589	frameshift_variant	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1082delA	2.37:g.58373509delA	ENSP00000408002:p.Glu361fs		58227013	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Frame_Shift_Del	DEL	ENST00000435505.2	37	CCDS1859.1																																																																																				0.383	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296	
FBXO48	554251	hgsc.bcm.edu	37	2	68691402	68691403	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:68691402_68691403insT	ENST00000377957.3	-	4	813_814	c.406_407insA	c.(406-408)atcfs	p.I136fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	136										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TGGGTACATGATTTTTTCTGGT	0.401																																																	0			2																																								68544907	SO:0001589	frameshift_variant	554251			BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.407dupA	2.37:g.68691408_68691408dupT	ENSP00000367193:p.Ile136fs		68544906		Frame_Shift_Ins	INS	ENST00000377957.3	37	CCDS33213.1																																																																																				0.401	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680	
WBP1	23559	hgsc.bcm.edu	37	2	74687410	74687410	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:74687410delC	ENST00000233615.2	+	4	686	c.412delC	c.(412-414)cccfs	p.P140fs	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Frame_Shift_Del_p.P174fs|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000409737.1_Frame_Shift_Del_p.P137fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	140							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						AGGCACACCACCCCCCCCTTA	0.582																																																	0			2								36,3,4227		0,0,36,1,1,2095	76.0	84.0	81.0			-8.0	0.5	2		82	22,2,8230		0,0,22,0,2,4103	no	codingComplex	WBP1	NM_012477.3		0,0,58,1,3,6198	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.9142,0.5032			74687410	58,5,12457	2203	4300	6503	74540918	SO:0001589	frameshift_variant	23559			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.412delC	2.37:g.74687410delC	ENSP00000233615:p.Pro140fs		74540918	B2RE02|O95637	Frame_Shift_Del	DEL	ENST00000233615.2	37	CCDS1943.1																																																																																				0.582	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477	
DQX1	165545	hgsc.bcm.edu	37	2	74755993	74755993	+	5'Flank	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:74755993delC	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|AUP1_ENST00000377526.3_Frame_Shift_Del_p.E137fs|HTRA2_ENST00000258080.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCCACCAACTCCCCCCGCCCA	0.577																																																	0			2											44.0	46.0	45.0					2																	74755993		1884	4111	5995	74609501	SO:0001631	upstream_gene_variant	550			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74755993delC	Exception_encountered		74609501	Q6B017|Q8NAM8	Frame_Shift_Del	DEL	ENST00000404568.3	37	CCDS1949.2																																																																																				0.577	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
MRPS5	64969	hgsc.bcm.edu	37	2	95753233	95753233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:95753233delG	ENST00000272418.2	-	12	1370	c.1162delC	c.(1162-1164)cggfs	p.R388fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	388					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AAGGGCCCCCGGGGGGACGCA	0.557																																																	0			2											74.0	69.0	71.0					2																	95753233		2203	4300	6503	95116960	SO:0001589	frameshift_variant	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1162delC	2.37:g.95753233delG	ENSP00000272418:p.Arg388fs		95116960	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Frame_Shift_Del	DEL	ENST00000272418.2	37	CCDS2010.1																																																																																				0.557	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902	
FAHD2A	51011	hgsc.bcm.edu	37	2	96078466	96078466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:96078466delC	ENST00000233379.4	+	7	989	c.836delC	c.(835-837)accfs	p.T279fs	FAHD2A_ENST00000447036.1_Frame_Shift_Del_p.T279fs	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	279							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CTAACTGGGACCCCCCCAGGT	0.562																																																	0			2											43.0	43.0	43.0					2																	96078466		2203	4298	6501	95442193	SO:0001589	frameshift_variant	51011			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.836delC	2.37:g.96078466delC	ENSP00000233379:p.Thr279fs		95442193	Q9Y3B0	Frame_Shift_Del	DEL	ENST00000233379.4	37	CCDS2014.1																																																																																				0.562	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044	
KANSL3	55683	hgsc.bcm.edu	37	2	97274706	97274708	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CTT	CTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:97274706_97274708delCTT	ENST00000431828.1	-	13	1553_1555	c.1477_1479delAAG	c.(1477-1479)aagdel	p.K493del	KANSL3_ENST00000440133.1_In_Frame_Del_p.K287del|KANSL3_ENST00000441706.2_In_Frame_Del_p.K406del|KANSL3_ENST00000599854.1_In_Frame_Del_p.K406del|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	493					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CATCGCGGGGCTTCTTCTTCTTC	0.601																																																	0			2																																								96638435	SO:0001651	inframe_deletion	55683			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1477_1479delAAG	2.37:g.97274715_97274717delCTT	ENSP00000396749:p.Lys493del		96638433	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	In_Frame_Del	DEL	ENST00000431828.1	37	CCDS46361.1																																																																																				0.601	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	
GCC2	9648	hgsc.bcm.edu	37	2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:109087884delA	ENST00000309863.6	+	6	2813	c.2099delA	c.(2098-2100)gaafs	p.E700fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CTCAGTTCAGAAAAAAAACAG	0.308																																																	0			2											114.0	144.0	134.0					2																	109087884		2203	4297	6500	108454316	SO:0001589	frameshift_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2099delA	2.37:g.109087884delA	ENSP00000307939:p.Glu700fs		108454316	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	ENST00000309863.6	37	CCDS33268.1																																																																																				0.308	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
TMEM87B	84910	hgsc.bcm.edu	37	2	112839024	112839024	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:112839024delT	ENST00000283206.4	+	8	1136	c.767delT	c.(766-768)attfs	p.I256fs		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	256						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GCAGCTGTTATTTTTTTGGGA	0.343																																																	0			2											131.0	142.0	138.0					2																	112839024		2203	4300	6503	112555495	SO:0001589	frameshift_variant	84910			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.767delT	2.37:g.112839024delT	ENSP00000283206:p.Ile256fs		112555495	A8K2M9|Q1RLN2|Q53R54	Frame_Shift_Del	DEL	ENST00000283206.4	37	CCDS33275.1																																																																																				0.343	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824	
GPR17	2840	hgsc.bcm.edu	37	2	128409270	128409270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:128409270delC	ENST00000272644.3	+	3	1119	c.1045delC	c.(1045-1047)cccfs	p.P350fs	LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000544369.1_Frame_Shift_Del_p.P350fs|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000393018.3_Frame_Shift_Del_p.P350fs|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000486700.1_3'UTR	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	350					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CAAGGGCCCGCCCCCCAGCTT	0.617																																																	0			2											57.0	70.0	66.0					2																	128409270		2203	4299	6502	128125740	SO:0001589	frameshift_variant	2840				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.1045delC	2.37:g.128409270delC	ENSP00000272644:p.Pro350fs		128125740	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Frame_Shift_Del	DEL	ENST00000272644.3	37	CCDS2148.1																																																																																				0.617	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1		
POTEF	728378	hgsc.bcm.edu	37	2	130872806	130872806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:130872806delT	ENST00000409914.2	-	4	1016	c.617delA	c.(616-618)aagfs	p.K206fs	POTEF_ENST00000361163.4_Frame_Shift_Del_p.K206fs|POTEF_ENST00000357462.5_Frame_Shift_Del_p.K206fs|POTEF_ENST00000360967.5_Frame_Shift_Del_p.K206fs	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	206					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K206R(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCTGTCCTCTTTTTGTTGTC	0.403																																																	2	Substitution - Missense(2)	lung(2)	2											12.0	14.0	13.0					2																	130872806		1993	3901	5894	130589276	SO:0001589	frameshift_variant	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.617delA	2.37:g.130872806delT	ENSP00000386786:p.Lys206fs		130589276	A6NC34	Frame_Shift_Del	DEL	ENST00000409914.2	37	CCDS46409.1																																																																																				0.403	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
ACVR2A	92	hgsc.bcm.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:148683686delA	ENST00000241416.7	+	10	1939	c.1303delA	c.(1303-1305)aaafs	p.K437fs	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.K329fs|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.K437fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTTGTGCATAAAAAAAAGAG	0.368																																																	3	Deletion - Frameshift(3)	large_intestine(2)|ovary(1)	2											156.0	129.0	138.0					2																	148683686		2203	4299	6502	148400156	SO:0001589	frameshift_variant	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1303delA	2.37:g.148683686delA	ENSP00000241416:p.Lys437fs		148400156	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Del	DEL	ENST00000241416.7	37	CCDS33301.1																																																																																				0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
UPP2	151531	hgsc.bcm.edu	37	2	158980303	158980303	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:158980303delA	ENST00000005756.4	+	6	901	c.707delA	c.(706-708)gaafs	p.E236fs	UPP2_ENST00000605860.1_Frame_Shift_Del_p.E293fs|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Frame_Shift_Del_p.E293fs	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	236					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	TTTTCCAGAGAAAAAAAGTTA	0.468																																																	0			2											93.0	92.0	93.0					2																	158980303		2203	4300	6503	158688549	SO:0001589	frameshift_variant	151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.707delA	2.37:g.158980303delA	ENSP00000005756:p.Glu236fs		158688549	B3KV87	Frame_Shift_Del	DEL	ENST00000005756.4	37	CCDS2207.1																																																																																				0.468	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355	
FIGN	55137	hgsc.bcm.edu	37	2	164468132	164468132	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:164468132delT	ENST00000333129.3	-	3	524	c.210delA	c.(208-210)aaafs	p.K70fs	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	70					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCTCTGCATATTTTTTTAGTA	0.483																																																	0			2											140.0	133.0	135.0					2																	164468132		1908	4131	6039	164176378	SO:0001589	frameshift_variant	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.210delA	2.37:g.164468132delT	ENSP00000333836:p.Lys70fs		164176378	B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Del	DEL	ENST00000333129.3	37	CCDS2221.2																																																																																				0.483	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
KLHL41	10324	hgsc.bcm.edu	37	2	170374733	170374734	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:170374733_170374734insA	ENST00000284669.1	+	4	1487_1488	c.1410_1411insA	c.(1411-1413)aaafs	p.K471fs	KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Frame_Shift_Ins_p.K409fs|RP11-724O16.1_ENST00000513963.1_Frame_Shift_Ins_p.K409fs	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	471					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)											TCTTCAACCCCAAAAAAGGAGA	0.376																																																	0			2																																								170082980	SO:0001589	frameshift_variant	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.1416dupA	2.37:g.170374739_170374739dupA	ENSP00000284669:p.Lys471fs		170082979	Q53R42	Frame_Shift_Ins	INS	ENST00000284669.1	37	CCDS2234.1																																																																																				0.376	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063	
RBM45	129831	hgsc.bcm.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aaafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353																																																	3	Deletion - Frameshift(2)|Unknown(1)	large_intestine(2)|skin(1)	2								3,107,4156		0,0,3,40,27,2063	69.0	75.0	73.0			4.7	1.0	2		75	6,163,8085		0,0,6,55,53,4013	no	codingComplex	RBM45	NM_152945.2		0,0,9,95,80,6076	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0475,2.5785,2.2284			178988920	9,270,12241	2203	4300	6503	178697166	SO:0001589	frameshift_variant	129831			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1135delA	2.37:g.178988920delA	ENSP00000286070:p.Lys381fs		178697166	Q6NYL0|Q8NFC9	Frame_Shift_Del	DEL	ENST00000286070.5	37	CCDS33335.1																																																																																				0.353	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945	
DNAH7	56171	hgsc.bcm.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				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						ATCGCTAATATTTTTTTTTAC	0.418																																																	0			2											103.0	95.0	97.0					2																	196788374		1906	4139	6045	196496619	SO:0001589	frameshift_variant	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.3770delA	2.37:g.196788374delT	ENSP00000311273:p.Asn1257fs		196496619	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	CCDS42794.1																																																																																				0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
CASP8	841	hgsc.bcm.edu	37	2	202139625	202139626	+	Frame_Shift_Ins	INS	-	-	G	rs577264458		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:202139625_202139626insG	ENST00000432109.2	+	7	798_799	c.609_610insG	c.(610-612)gggfs	p.G204fs	CASP8_ENST00000392258.3_Intron|CASP8_ENST00000264275.5_Frame_Shift_Ins_p.G221fs|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000358485.4_Frame_Shift_Ins_p.G263fs|CASP8_ENST00000323492.7_Frame_Shift_Ins_p.G189fs	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	204					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGAGTTGTGTGGGGTAATGAC	0.411										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0			2																																								201847871	SO:0001589	frameshift_variant	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.613dupG	2.37:g.202139629_202139629dupG	ENSP00000412523:p.Gly204fs		201847870	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Ins	INS	ENST00000432109.2	37	CCDS2342.1																																																																																				0.411	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	
CCDC108	255101	hgsc.bcm.edu	37	2	219903670	219903672	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AGG	AGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:219903670_219903672delAGG	ENST00000341552.5	-	3	182_184	c.99_101delCCT	c.(97-102)ctccta>cta	p.33_34LL>L	CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000441968.1_In_Frame_Del_p.33_34LL>L|CCDC108_ENST00000409865.3_Intron|CCDC108_ENST00000453220.1_In_Frame_Del_p.33_34LL>L|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000324264.6_5'UTR	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	33						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGCCTCTTAGGAGAAGAGGAA	0.458																																																	0			2																																								219611916	SO:0001651	inframe_deletion	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.99_101delCCT	2.37:g.219903670_219903672delAGG	ENSP00000340776:p.Leu34del		219611914	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	In_Frame_Del	DEL	ENST00000341552.5	37	CCDS2430.2																																																																																				0.458	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
NYAP2	57624	hgsc.bcm.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																																	0			2																																								226155316	SO:0001589	frameshift_variant	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs		226155315	A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENST00000452881.1	+	1	193_219	c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	c.(85-111)cagcagcctagccctgaatccacaccadel	p.QQPSPESTP47del	AC105344.2_ENST00000414876.1_lincRNA|SPATA3_ENST00000424440.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	47			Missing.							endometrium(2)|lung(1)	3						TTCCACCTCTCAGCAGCCTAGCCCTGAATCCACACCACAGCAGCCTA	0.564																																																	0			2								924,1842		222,480,681						-8.0	0.0		dbSNP_130	187	2754,2350		871,1012,669	no	coding	SPATA3	NM_139073.3		1093,1492,1350	A1A1,A1R,RR		46.0423,33.4056,46.7344				3678,4192				231569303	SO:0001651	inframe_deletion	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.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	2.37:g.231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENSP00000388895:p.Gln47_Pro55del		231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				0.564	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
NKTR	4820	hgsc.bcm.edu	37	3	42679036	42679036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:42679036delC	ENST00000232978.8	+	13	2028	c.1840delC	c.(1840-1842)cccfs	p.P616fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	616					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGTGACAGTCCCCCCCCTTC	0.423																																																	0			3											110.0	121.0	117.0					3																	42679036		2203	4300	6503	42654040	SO:0001589	frameshift_variant	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1840delC	3.37:g.42679036delC	ENSP00000232978:p.Pro616fs		42654040		Frame_Shift_Del	DEL	ENST00000232978.8	37	CCDS2702.1																																																																																				0.423	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385	
QRICH1	54870	hgsc.bcm.edu	37	3	49065922	49065922	+	IGR	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:49065922delG	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Frame_Shift_Del_p.P64fs	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							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)		GGAAACCAGTGGGGTCTTAAG	0.542																																																	0			3											72.0	72.0	72.0					3																	49065922		2203	4300	6503	49040926	SO:0001628	intergenic_variant	3615				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		3.37:g.49065922delG			49040926	Q4G0F7|Q7L621|Q8TEA5	Frame_Shift_Del	DEL	ENST00000395443.2	37	CCDS2787.1																																																																																				0.542	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
RBM5	10181	hgsc.bcm.edu	37	3	50155888	50155889	+	Stop_Codon_Del	DEL	GA	GA	-	rs112672304		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:50155888_50155889delGA	ENST00000347869.3	+	0	2622_2623				RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.*816fs?(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGATGgagtgagagagagaga	0.535																																																	1	Deletion - Frameshift(1)	breast(1)	3																																								50130893	SO:0001567	stop_retained_variant	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	Exception_encountered	3.37:g.50155898_50155899delGA			50130892	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Frame_Shift_Del	DEL	ENST00000347869.3	37	CCDS2810.1																																																																																				0.535	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778	
CCDC66	285331	hgsc.bcm.edu	37	3	56598018	56598018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:56598018delA	ENST00000394672.3	+	4	479	c.409delA	c.(409-411)aaafs	p.K138fs	CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000436465.2_Frame_Shift_Del_p.K138fs|CCDC66_ENST00000538560.1_Frame_Shift_Del_p.K138fs|CCDC66_ENST00000326595.7_Frame_Shift_Del_p.K104fs	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	138					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAGCCTCACAAAAAACACAT	0.388																																																	0			3											100.0	88.0	92.0					3																	56598018		2203	4300	6503	56573058	SO:0001589	frameshift_variant	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.409delA	3.37:g.56598018delA	ENSP00000378167:p.Lys138fs		56573058	B3KWL8|Q4VC34|Q8N949	Frame_Shift_Del	DEL	ENST00000394672.3	37	CCDS46852.1																																																																																				0.388	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506	
APPL1	26060	hgsc.bcm.edu	37	3	57276921	57276921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:57276921delA	ENST00000288266.3	+	7	600	c.453delA	c.(451-453)tcafs	p.S151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCGTTTATCAAAAAAAAGAG	0.299																																																	1	Deletion - Frameshift(1)	large_intestine(1)	3											125.0	119.0	121.0					3																	57276921		2202	4300	6502	57251961	SO:0001589	frameshift_variant	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.453delA	3.37:g.57276921delA	ENSP00000288266:p.Ser151fs		57251961	Q9P2B9	Frame_Shift_Del	DEL	ENST00000288266.3	37	CCDS2882.1																																																																																				0.299	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	
MAGI1	9223	hgsc.bcm.edu	37	3	65422910	65422912	+	In_Frame_Del	DEL	TCT	TCT	-	rs144417292		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	TCT	TCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:65422910_65422912delTCT	ENST00000497477.2	-	10	1280_1282	c.1281_1283delAGA	c.(1279-1284)gaagat>gat	p.E427del	MAGI1_ENST00000402939.2_In_Frame_Del_p.E427del|MAGI1_ENST00000330909.8_In_Frame_Del_p.E427del|MAGI1_ENST00000483466.1_In_Frame_Del_p.E427del|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	427					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGCTGAGTGATCTTCTGTCCATT	0.389																																																	0			3																																								65397952	SO:0001651	inframe_deletion	154043			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1281_1283delAGA	3.37:g.65422913_65422915delTCT	ENSP00000424369:p.Glu427del		65397950	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	In_Frame_Del	DEL	ENST00000497477.2	37																																																																																					0.389	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
ZNF717	100131827	hgsc.bcm.edu	37	3	75786315	75786323	+	In_Frame_Del	DEL	CTACATTCT	CTACATTCT	-	rs146447046|rs202196860		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CTACATTCT	CTACATTCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:75786315_75786323delCTACATTCT	ENST00000478296.1	-	4	2577_2585	c.2301_2309delAGAATGTAG	c.(2299-2310)aaagaatgtagg>aag	p.ECR768del	ZNF717_ENST00000422325.1_In_Frame_Del_p.ECR818del|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_In_Frame_Del_p.ECR811del|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000477374.1_Intron			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	
OR5H2	79310	hgsc.bcm.edu	37	3	98002008	98002008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:98002008delA	ENST00000355273.2	+	1	277	c.277delA	c.(277-279)aaafs	p.K93fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTCTTGGCCAAAAACAGGAT	0.373																																																	0			3											163.0	160.0	161.0					3																	98002008		2203	4300	6503	99484698	SO:0001589	frameshift_variant	79310				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.277delA	3.37:g.98002008delA	ENSP00000347418:p.Lys93fs		99484698	Q6IF87	Frame_Shift_Del	DEL	ENST00000355273.2	37	CCDS33801.1																																																																																				0.373	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		
DZIP3	9666	hgsc.bcm.edu	37	3	108324275	108324275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:108324275delT	ENST00000361582.3	+	2	252	c.22delT	c.(22-24)tttfs	p.F9fs	DZIP3_ENST00000463306.1_Frame_Shift_Del_p.F9fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	9					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ACCAGATGAATTTTTTGTGAG	0.443																																																	0			3											111.0	116.0	114.0					3																	108324275		2203	4300	6503	109806965	SO:0001589	frameshift_variant	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.22delT	3.37:g.108324275delT	ENSP00000355028:p.Phe9fs		109806965	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Frame_Shift_Del	DEL	ENST00000361582.3	37	CCDS2952.1																																																																																				0.443	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
UPK1B	7348	hgsc.bcm.edu	37	3	118917947	118917947	+	Frame_Shift_Del	DEL	G	G	-	rs368682621		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:118917947delG	ENST00000264234.3	+	7	841	c.692delG	c.(691-693)tggfs	p.W231fs	UPK1B_ENST00000497685.1_Frame_Shift_Del_p.W151fs|UPK1B_ENST00000460625.1_Frame_Shift_Del_p.W223fs	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	231					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CGACACGCCTGGGGGGTTGCC	0.483																																																	0			3											112.0	107.0	109.0					3																	118917947		2203	4300	6503	120400637	SO:0001589	frameshift_variant	7348			AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.692delG	3.37:g.118917947delG	ENSP00000264234:p.Trp231fs		120400637	O60753|Q9UIM2|Q9UNX6	Frame_Shift_Del	DEL	ENST00000264234.3	37	CCDS2985.1																																																																																				0.483	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2		
SLC35G2	80723	hgsc.bcm.edu	37	3	136573486	136573486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:136573486delA	ENST00000446465.2	+	2	812	c.184delA	c.(184-186)aaafs	p.K64fs	RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.K64fs|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GAGTGAAATGAAAAAAAAAGG	0.413																																																	0			3											88.0	99.0	95.0					3																	136573486		2203	4300	6503	138056176	SO:0001589	frameshift_variant	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.184delA	3.37:g.136573486delA	ENSP00000400839:p.Lys64fs		138056176		Frame_Shift_Del	DEL	ENST00000446465.2	37	CCDS3091.1																																																																																				0.413	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246	
EIF2A	83939	hgsc.bcm.edu	37	3	150299509	150299510	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:150299509_150299510insA	ENST00000460851.1	+	12	1711_1712	c.1602_1603insA	c.(1603-1605)aaafs	p.K535fs	EIF2A_ENST00000273435.5_Frame_Shift_Ins_p.K530fs|EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000406576.3_Frame_Shift_Ins_p.K474fs|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000383043.3_Frame_Shift_Ins_p.K321fs|EIF2A_ENST00000487799.1_Frame_Shift_Ins_p.K510fs			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	535					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGAGATAGACAAAAAAATCAA	0.406																																																	0			3																																								151782200	SO:0001589	frameshift_variant	83939			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1609dupA	3.37:g.150299516_150299516dupA	ENSP00000417229:p.Lys535fs		151782199	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Frame_Shift_Ins	INS	ENST00000460851.1	37	CCDS46935.1																																																																																				0.406	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025	
DHX36	170506	hgsc.bcm.edu	37	3	153998375	153998375	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:153998375delT	ENST00000496811.1	-	22	2640	c.2560delA	c.(2560-2562)agafs	p.R854fs	DHX36_ENST00000308361.6_Frame_Shift_Del_p.R825fs|DHX36_ENST00000329463.5_Frame_Shift_Del_p.R840fs|DHX36_ENST00000544526.1_Frame_Shift_Del_p.R840fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	854					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACATTTTTCTTTTTTTACCC	0.294																																																	0			3											73.0	77.0	75.0					3																	153998375		2201	4296	6497	155481069	SO:0001589	frameshift_variant	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2560delA	3.37:g.153998375delT	ENSP00000417078:p.Arg854fs		155481069	B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Del	DEL	ENST00000496811.1	37	CCDS3171.1																																																																																				0.294	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
TNIK	23043	hgsc.bcm.edu	37	3	170781745	170781745	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:170781745delA	ENST00000436636.2	-	33	4352	c.4008delT	c.(4006-4008)tttfs	p.F1336fs	TNIK_ENST00000475336.1_Frame_Shift_Del_p.F1244fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.F1288fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.F1307fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.F1328fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.F1273fs|TNIK_ENST00000464785.1_5'UTR|TNIK_ENST00000470834.1_Frame_Shift_Del_p.F1299fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.F1281fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.F1314fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.F1252fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1336					actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCACGGATGCAAAAAATACCT	0.403																																																	0			3											92.0	88.0	89.0					3																	170781745		1857	4099	5956	172264439	SO:0001589	frameshift_variant	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.4008delT	3.37:g.170781745delA	ENSP00000399511:p.Phe1336fs		172264439	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	ENST00000436636.2	37	CCDS46956.1																																																																																				0.403	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
MUC4	4585	hgsc.bcm.edu	37	3	195514998	195515045	+	In_Frame_Del	DEL	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	-	rs200518052|rs538504516|rs199975352|rs200763050|rs552771790|rs570974278|rs368837663|rs201206859|rs199883835|rs78683709|rs201451131|rs76196931	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENST00000463781.3	-	2	3865_3912	c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	c.(3406-3453)tctcttcctgtcaccgacacttcctcagtatccacaggtcacaccaccdel	p.SLPVTDTSSVSTGHTT1136del	MUC4_ENST00000475231.1_In_Frame_Del_p.SLPVTDTSSVSTGHTT1136del|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	603					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T1142S(3)|p.V1145A(2)|p.P1138L(1)|p.H1149H(1)|p.T1142T(1)|p.T1150A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGA	0.569																																																	9	Substitution - Missense(7)|Substitution - coding silent(2)	endometrium(4)|stomach(2)|skin(2)|kidney(1)	3							,,	1034,2304		279,476,914					,,	-1.1	0.0			8	2849,3303		990,869,1217	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	1269,1345,2131	A1A1,A1R,RR		46.3101,30.9766,40.9168	,,	,,		3883,5607				196999440	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	3.37:g.195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENSP00000417498:p.Ser1136_Thr1151del		196999393	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.569	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENST00000324803.4	+	1	3255_3283	c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	c.(295-324)cacgtgcccatgtggagtgcccgcctgctcfs	p.HVPMWSARLL99fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACACGTGCCCATGTGGAGTGCCCGCCTGCTCACGTGCCCA	0.655																																																	1	Substitution - Missense(1)	pancreas(1)	4																																								1378622	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	4.37:g.1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENSP00000323978:p.His99fs		1378594	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				0.655	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
PROM1	8842	hgsc.bcm.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																																	0			4											189.0	187.0	188.0					4																	15995680		1901	4120	6021	15604778	SO:0001589	frameshift_variant	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs		15604778	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	
GABRG1	2565	hgsc.bcm.edu	37	4	46060366	46060366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:46060366delT	ENST00000295452.4	-	7	951	c.784delA	c.(784-786)attfs	p.I262fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	262					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAAAAAAAATTGTCATGATA	0.289																																																	0			4											92.0	97.0	95.0					4																	46060366		2203	4300	6503	45755123	SO:0001589	frameshift_variant	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.784delA	4.37:g.46060366delT	ENSP00000295452:p.Ile262fs		45755123	Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	CCDS3470.1																																																																																				0.289	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
CLOCK	9575	hgsc.bcm.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																																	2	Deletion - Frameshift(2)	ovary(1)|lung(1)	4											88.0	93.0	92.0					4																	56336954		2201	4298	6499	56031711	SO:0001589	frameshift_variant	9575			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs		56031711	A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	ENST00000309964.4	37	CCDS3500.1																																																																																				0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
AFM	173	hgsc.bcm.edu	37	4	74347520	74347521	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:74347520_74347521insT	ENST00000226355.3	+	1	121_122	c.28_29insT	c.(28-30)attfs	p.I10fs		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	10					vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACAGGTTTTATTTTTTTCTTG	0.317																																																	0			4																																								74566385	SO:0001589	frameshift_variant	173			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.35dupT	4.37:g.74347527_74347527dupT	ENSP00000226355:p.Ile10fs		74566384	A8K3E1|Q32MR3|Q4W5C5	Frame_Shift_Ins	INS	ENST00000226355.3	37	CCDS3557.1																																																																																				0.317	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
PAQR3	152559	hgsc.bcm.edu	37	4	79851421	79851422	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:79851421_79851422insT	ENST00000512733.1	-	3	619_620	c.406_407insA	c.(406-408)acafs	p.T136fs	PAQR3_ENST00000380645.4_Frame_Shift_Ins_p.T136fs|PAQR3_ENST00000295462.3_Frame_Shift_Ins_p.H82fs	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	136					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TCTTCGACATGTTTTTTCTGAC	0.356																																																	0			4																																								80070446	SO:0001589	frameshift_variant	152559			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.407dupA	4.37:g.79851427_79851427dupT	ENSP00000421981:p.Thr136fs		80070445	A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Frame_Shift_Ins	INS	ENST00000512733.1	37	CCDS34020.1																																																																																				0.356	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453	
SEC31A	22872	hgsc.bcm.edu	37	4	83745800	83745800	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:83745800delT	ENST00000395310.2	-	25	3501	c.3319delA	c.(3319-3321)attfs	p.I1107fs	SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I1120fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1107	Interaction with PDCD6.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388																																																	0			4											147.0	145.0	145.0					4																	83745800		2203	4300	6503	83964824	SO:0001589	frameshift_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3319delA	4.37:g.83745800delT	ENSP00000378721:p.Ile1107fs		83964824	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	CCDS3596.1																																																																																				0.388	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
PKD2	5311	hgsc.bcm.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:88986559delA	ENST00000508588.1	+	6	801	c.406delA	c.(406-408)aaafs	p.K137fs	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000237596.2_Frame_Shift_Del_p.K719fs			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	389					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383																																																	0			4											102.0	109.0	106.0					4																	88986559		2203	4300	6503	89205583	SO:0001589	frameshift_variant	25865			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.406delA	4.37:g.88986559delA	ENSP00000427131:p.Lys137fs		89205583	Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Del	DEL	ENST00000508588.1	37																																																																																					0.383	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297	
LARP7	51574	hgsc.bcm.edu	37	4	113570732	113570732	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:113570732delA	ENST00000344442.5	+	9	1462	c.1184delA	c.(1183-1185)caafs	p.Q395fs	MIR302B_ENST00000362188.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000324052.6_Frame_Shift_Del_p.Q395fs|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000510655.1_RNA|LARP7_ENST00000509061.1_Frame_Shift_Del_p.Q402fs	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	395					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTAGCGCTACAAAAAGCTAGC	0.328																																																	0			4											45.0	43.0	43.0					4																	113570732		2202	4296	6498	113790181	SO:0001589	frameshift_variant	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1184delA	4.37:g.113570732delA	ENSP00000344950:p.Gln395fs		113790181	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Del	DEL	ENST00000344442.5	37	CCDS3701.2																																																																																				0.328	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648	
ANK2	287	hgsc.bcm.edu	37	4	114276086	114276087	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:114276086_114276087insCA	ENST00000357077.4	+	38	6365_6366	c.6312_6313insCA	c.(6313-6315)cacfs	p.H2105fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.H2072fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2105					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAAGAAAGCCACAGAGAGAG	0.475																																																	0			4																																								114495536	SO:0001589	frameshift_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6315_6316dupCA	4.37:g.114276089_114276090dupCA	ENSP00000349588:p.His2105fs		114495535	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Ins	INS	ENST00000357077.4	37	CCDS3702.1																																																																																				0.475	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
PABPC4L	132430	hgsc.bcm.edu	37	4	135122231	135122231	+	5'UTR	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:135122231delG	ENST00000421491.3	-	0	200				PABPC4L_ENST00000529122.2_Frame_Shift_Del_p.H40fs			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like								nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						CAATCCCTGTGGGGGGATACT	0.562																																																	0			4																																								135341681	SO:0001623	5_prime_UTR_variant	132430			AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.-57C>-	4.37:g.135122231delG			135341681		Frame_Shift_Del	DEL	ENST00000421491.3	37																																																																																					0.562	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364399.2	NM_001114734	
SETD7	80854	hgsc.bcm.edu	37	4	140432892	140432892	+	Frame_Shift_Del	DEL	G	G	-	rs368140697		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:140432892delG	ENST00000274031.3	-	8	1662	c.1026delC	c.(1024-1026)cccfs	p.P342fs	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	342					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CACTCTTCCCGGGGGGGCTGT	0.607																																																	0			4											63.0	65.0	64.0					4																	140432892		2203	4300	6503	140652342	SO:0001589	frameshift_variant	80854			AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.1026delC	4.37:g.140432892delG	ENSP00000274031:p.Pro342fs		140652342	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Frame_Shift_Del	DEL	ENST00000274031.3	37	CCDS3748.1																																																																																				0.607	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648	
FBXW7	55294	hgsc.bcm.edu	37	4	153249360	153249361	+	Splice_Site	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:153249360_153249361insT	ENST00000281708.4	-	9	2646_2647	c.1417_1418insA	c.(1417-1419)aga>aAga	p.R473fs	FBXW7_ENST00000603841.1_Splice_Site_p.R473fs|FBXW7_ENST00000603548.1_Splice_Site_p.R473fs|FBXW7_ENST00000263981.5_Splice_Site_p.R393fs|FBXW7_ENST00000393956.3_Splice_Site_p.R297fs|FBXW7_ENST00000296555.5_Splice_Site_p.R355fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	473					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R473fs*25(4)|p.R473fs*4(3)|p.R234fs*25(1)|p.R393fs*25(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTCCCTTACCTTTTTTCATGA	0.416			"""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"""	10	Deletion - Frameshift(6)|Insertion - Frameshift(3)|Unknown(1)	large_intestine(6)|NS(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|endometrium(1)	4																																								153468811	SO:0001630	splice_region_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.1418+1->A	4.37:g.153249366_153249366dupT			153468810	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	CCDS3777.1																																																																																				0.416	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		Frame_Shift_Ins
SNX25	83891	hgsc.bcm.edu	37	4	186272695	186272695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:186272695delA	ENST00000504273.1	+	14	2200	c.1906delA	c.(1906-1908)aaafs	p.K637fs	SNX25_ENST00000264694.8_Frame_Shift_Del_p.K637fs|SNX25_ENST00000512853.1_Intron			Q9H3E2	SNX25_HUMAN	sorting nexin 25	637					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CGTGCAGGGGAAAAAAAATTC	0.433																																																	0			4											142.0	136.0	138.0					4																	186272695		2203	4300	6503	186509689	SO:0001589	frameshift_variant	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1906delA	4.37:g.186272695delA	ENSP00000426255:p.Lys637fs		186509689	Q3ZT30|Q8N6K3	Frame_Shift_Del	DEL	ENST00000504273.1	37	CCDS34116.1																																																																																				0.433	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	
NIPBL	25836	hgsc.bcm.edu	37	5	37064899	37064899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:37064899delA	ENST00000282516.8	+	47	8819	c.8320delA	c.(8320-8322)aaafs	p.K2775fs		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2775					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CATTATTTACAAAAAAATTGC	0.463																																																	0			5											57.0	58.0	58.0					5																	37064899		2203	4300	6503	37100656	SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8320delA	5.37:g.37064899delA	ENSP00000282516:p.Lys2775fs		37100656	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	CCDS3920.1																																																																																				0.463	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
FYB	2533	hgsc.bcm.edu	37	5	39202038	39202038	+	Frame_Shift_Del	DEL	G	G	-	rs374928648		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:39202038delG	ENST00000351578.6	-	2	1215	c.1025delC	c.(1024-1026)ccgfs	p.P342fs	FYB_ENST00000515010.1_Frame_Shift_Del_p.P342fs|FYB_ENST00000540520.1_Frame_Shift_Del_p.P352fs|FYB_ENST00000512982.1_Frame_Shift_Del_p.P342fs|FYB_ENST00000505428.1_Frame_Shift_Del_p.P342fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	342					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P342L(3)|p.P352L(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTCTGTTTCGGGGTGGCTGA	0.532																																																	4	Substitution - Missense(4)	lung(4)	5											138.0	141.0	140.0					5																	39202038		1926	4121	6047	39237795	SO:0001589	frameshift_variant	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1025delC	5.37:g.39202038delG	ENSP00000316460:p.Pro342fs		39237795	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Del	DEL	ENST00000351578.6	37	CCDS47200.1																																																																																				0.532	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
MSH3	4437	hgsc.bcm.edu	37	5	79970915	79970916	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AA	AA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:79970915_79970916delAA	ENST00000265081.6	+	7	1221_1222	c.1141_1142delAA	c.(1141-1143)aaafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGGC	0.347								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0			5																																								80006672	SO:0001589	frameshift_variant	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1141_1142delAA	5.37:g.79970921_79970922delAA	ENSP00000265081:p.Lys383fs		80006671	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	ENST00000265081.6	37	CCDS34195.1																																																																																				0.347	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
KIAA0825	285600	hgsc.bcm.edu	37	5	93788720	93788720	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:93788720delA	ENST00000513200.3	-	12	2373	c.2301delT	c.(2299-2301)tttfs	p.F767fs	KIAA0825_ENST00000312498.7_Frame_Shift_Del_p.F767fs|KIAA0825_ENST00000427991.2_Frame_Shift_Del_p.F767fs	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	767										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ATGGTTGCTTAAAAAATGATT	0.343																																																	0			5											56.0	52.0	53.0					5																	93788720		692	1590	2282	93814476	SO:0001589	frameshift_variant	285600			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.2301delT	5.37:g.93788720delA	ENSP00000424618:p.Phe767fs		93814476	O94914|Q6ZNN2	Frame_Shift_Del	DEL	ENST00000513200.3	37																																																																																					0.343	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665	
SEMA6A	57556	hgsc.bcm.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604																																																	0			5																																								115810664	SO:0001589	frameshift_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2638dupC	5.37:g.115782770_115782770dupG	ENSP00000345512:p.Lys880fs		115810663	Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	CCDS47256.1																																																																																				0.604	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
ANKHD1	54882	hgsc.bcm.edu	37	5	139907857	139907857	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:139907857delA	ENST00000360839.2	+	29	5480	c.5326delA	c.(5326-5328)aaafs	p.K1776fs	SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1776fs|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1776fs|ANKHD1_ENST00000544120.1_Frame_Shift_Del_p.K159fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1776						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGATTCCTAAAAATCATAT	0.403																																																	0			5											103.0	99.0	101.0					5																	139907857		2203	4300	6503	139888041	SO:0001589	frameshift_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5326delA	5.37:g.139907857delA	ENSP00000354085:p.Lys1776fs		139888041	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	CCDS4225.1																																																																																				0.403	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
WDR55	54853	hgsc.bcm.edu	37	5	140049101	140049102	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:140049101_140049102insA	ENST00000358337.5	+	7	1251_1252	c.1014_1015insA	c.(1015-1017)aaafs	p.K339fs	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	339					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.K341fs*8(1)		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)			ACCGTCGGCGCAAAAAAAAGGG	0.589																																																	1	Deletion - Frameshift(1)	large_intestine(1)	5								6,4258		0,6,2126						1.0	1.0			45	11,8243		0,11,4116	no	frameshift	WDR55	NM_017706.4		0,17,6242	A1A1,A1R,RR		0.1333,0.1407,0.1358				17,12501				140029286	SO:0001589	frameshift_variant	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.1022dupA	5.37:g.140049109_140049109dupA	ENSP00000351100:p.Lys339fs		140029285	Q9NXK4	Frame_Shift_Ins	INS	ENST00000358337.5	37	CCDS4235.1																																																																																				0.589	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706	
RBM27	54439	hgsc.bcm.edu	37	5	145647319	145647320	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:145647319_145647320insA	ENST00000265271.5	+	15	2605_2606	c.2439_2440insA	c.(2440-2442)aaafs	p.K814fs	RBM27_ENST00000506502.1_Frame_Shift_Ins_p.K759fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	814					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K816fs*5(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAGTGCTTAAAAAAAAACA	0.351																																																	1	Deletion - Frameshift(1)	ovary(1)	5																																								145627513	SO:0001589	frameshift_variant	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2448dupA	5.37:g.145647328_145647328dupA	ENSP00000265271:p.Lys814fs		145627512	Q8IYW9	Frame_Shift_Ins	INS	ENST00000265271.5	37	CCDS43378.1																																																																																				0.351	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
TCERG1	10915	hgsc.bcm.edu	37	5	145887465	145887465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:145887465delA	ENST00000296702.5	+	20	2978	c.2940delA	c.(2938-2940)gtafs	p.V980fs	TCERG1_ENST00000394421.2_Frame_Shift_Del_p.V959fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	980	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAAGAAGTAAAAAAAATCA	0.338																																																	0			5											89.0	84.0	86.0					5																	145887465		2203	4299	6502	145867658	SO:0001589	frameshift_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2940delA	5.37:g.145887465delA	ENSP00000296702:p.Val980fs		145867658	Q2NKN2|Q59EA1	Frame_Shift_Del	DEL	ENST00000296702.5	37	CCDS4282.1																																																																																				0.338	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
LARP1	23367	hgsc.bcm.edu	37	5	154173390	154173390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:154173390delC	ENST00000336314.4	+	6	692	c.668delC	c.(667-669)gccfs	p.A223fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	300					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGCCCGTGGCCCCCCCCACC	0.642																																																	1	Insertion - Frameshift(1)	large_intestine(1)	5											87.0	103.0	98.0					5																	154173390		2203	4300	6503	154153583	SO:0001589	frameshift_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.668delC	5.37:g.154173390delC	ENSP00000336721:p.Ala223fs		154153583	O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																				0.642	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
ADAM19	8728	hgsc.bcm.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804|rs199716249	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:156915296_156915297insG	ENST00000517905.1	-	21	2570_2571	c.2526_2527insC	c.(2524-2529)cccgcafs	p.A843fs	ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.A845fs|ADAM19_ENST00000257527.4_Frame_Shift_Ins_p.A843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.A576fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564																																																	0			5																																								156847875	SO:0001589	frameshift_variant	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2527dupC	5.37:g.156915302_156915302dupG	ENSP00000428654:p.Ala843fs		156847874	Q9BZL5|Q9UHP2	Frame_Shift_Ins	INS	ENST00000517905.1	37																																																																																					0.564	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	
PHYKPL	85007	hgsc.bcm.edu	37	5	177633743	177633745	+	IGR	DEL	AGA	AGA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AGA	AGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:177633743_177633745delAGA	ENST00000308158.5	-	0	2038				HNRNPAB_ENST00000514633.1_In_Frame_Del_p.K131del|PHYKPL_ENST00000481811.1_5'Flank|HNRNPAB_ENST00000506339.1_In_Frame_Del_p.K131del|HNRNPAB_ENST00000515193.1_In_Frame_Del_p.K131del|HNRNPAB_ENST00000506259.1_In_Frame_Del_p.K131del|HNRNPAB_ENST00000358344.3_In_Frame_Del_p.K131del|HNRNPAB_ENST00000355836.5_In_Frame_Del_p.K131del|HNRNPAB_ENST00000504898.1_In_Frame_Del_p.K131del	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)	GTCCTAGACCAGAAGGAGCACAG	0.522																																																	0			5																																								177566351	SO:0001628	intergenic_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		5.37:g.177633743_177633745delAGA			177566349	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	In_Frame_Del	DEL	ENST00000308158.5	37	CCDS4434.1																																																																																				0.522	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921	
GRM6	2916	hgsc.bcm.edu	37	5	178418554	178418555	+	Frame_Shift_Ins	INS	-	-	C	rs17078894|rs281865186	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:178418554_178418555insC	ENST00000517717.1	-	4	765_766	c.727_728insG	c.(727-729)gtcfs	p.V243fs	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Frame_Shift_Ins_p.V243fs			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	243					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCAATACAGACCCCCCCTGGG	0.624																																																	0			5	GRCh37	CI054463	GRM6	I				0,4262		0,0,2131				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.3	1.0		dbSNP_129	140	2,8252		0,2,4125	no	frameshift	GRM6	NM_000843.3		0,2,6256	A1A1,A1R,RR		0.0242,0.0,0.016				2,12514				178351161	SO:0001589	frameshift_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.728dupG	5.37:g.178418561_178418561dupC	ENSP00000430767:p.Val243fs		178351160		Frame_Shift_Ins	INS	ENST00000517717.1	37	CCDS4442.1																																																																																				0.624	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
ZFP62	643836	hgsc.bcm.edu	37	5	180277048	180277049	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CA	CA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:180277048_180277049delCA	ENST00000502412.1	-	2	1503_1504	c.1446_1447delTG	c.(1444-1449)tgtgggfs	p.CG482fs	ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000359141.6_Frame_Shift_Del_p.CG422fs|ZFP62_ENST00000512132.1_Frame_Shift_Del_p.CG449fs	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGCTTTCCCACACACATCAC	0.431																																																	0			5																																								180209655	SO:0001589	frameshift_variant	643836			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.1446_1447delTG	5.37:g.180277054_180277055delCA	ENSP00000423820:p.Cys482fs		180209654	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Frame_Shift_Del	DEL	ENST00000502412.1	37	CCDS54955.1																																																																																				0.431	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368386.2	NM_152283	
ATXN1	6310	hgsc.bcm.edu	37	6	16327163	16327163	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:16327163delG	ENST00000244769.4	-	8	2315	c.1379delC	c.(1378-1380)cctfs	p.P460fs	ATXN1_ENST00000436367.1_Frame_Shift_Del_p.P460fs	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	460					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCGATGACAGGGGGTTGAGT	0.657																																																	0			6											90.0	97.0	95.0					6																	16327163		2203	4300	6503	16435142	SO:0001589	frameshift_variant	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1379delC	6.37:g.16327163delG	ENSP00000244769:p.Pro460fs		16435142	Q17S02|Q9UJG2|Q9Y4J1	Frame_Shift_Del	DEL	ENST00000244769.4	37	CCDS34342.1																																																																																				0.657	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
FAM135A	57579	hgsc.bcm.edu	37	6	71235776	71235776	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:71235776delA	ENST00000418814.2	+	15	3603	c.2989delA	c.(2989-2991)aaafs	p.K998fs	FAM135A_ENST00000370479.3_Frame_Shift_Del_p.K785fs|FAM135A_ENST00000505868.1_Frame_Shift_Del_p.K998fs|FAM135A_ENST00000457062.2_Frame_Shift_Del_p.K785fs|FAM135A_ENST00000505769.1_Frame_Shift_Del_p.K578fs|FAM135A_ENST00000361499.3_Frame_Shift_Del_p.K802fs	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	998										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAGAACTATGAAAAAAAATAG	0.333																																																	0			6											37.0	38.0	38.0					6																	71235776		2201	4298	6499	71292497	SO:0001589	frameshift_variant	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2989delA	6.37:g.71235776delA	ENSP00000410768:p.Lys998fs		71292497	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Frame_Shift_Del	DEL	ENST00000418814.2	37	CCDS55028.1																																																																																				0.333	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819	
RIMS1	22999	hgsc.bcm.edu	37	6	72596775	72596775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:72596775delC	ENST00000521978.1	+	1	49	c.49delC	c.(49-51)cccfs	p.P18fs	RIMS1_ENST00000520567.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000517960.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000264839.7_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000522291.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000518273.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000491071.2_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000348717.5_Frame_Shift_Del_p.P18fs	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	18					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.M19fs*7(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CACGGTGCCTCCCCCCATGCA	0.637																																																	1	Deletion - Frameshift(1)	large_intestine(1)	6											28.0	34.0	32.0					6																	72596775		2033	4171	6204	72653496	SO:0001589	frameshift_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.49delC	6.37:g.72596775delC	ENSP00000428417:p.Pro18fs		72653496	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Del	DEL	ENST00000521978.1	37	CCDS47449.1																																																																																				0.637	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
ZNF292	23036	hgsc.bcm.edu	37	6	87967280	87967280	+	Frame_Shift_Del	DEL	G	G	-	rs571636248		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:87967280delG	ENST00000369577.3	+	8	3976	c.3933delG	c.(3931-3933)aagfs	p.K1311fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.K1306fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1311						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTTCTAAAGGGGGGTAATG	0.373																																																	0			6											28.0	27.0	28.0					6																	87967280		1846	4091	5937	88023999	SO:0001589	frameshift_variant	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3933delG	6.37:g.87967280delG	ENSP00000358590:p.Lys1311fs		88023999	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	CCDS47457.1																																																																																				0.373	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
MDN1	23195	hgsc.bcm.edu	37	6	90432675	90432675	+	Splice_Site	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:90432675delT	ENST00000369393.3	-	40	6081	c.5966delA	c.(5965-5967)aag>ag	p.K1989fs	MDN1_ENST00000428876.1_Splice_Site_p.K1989fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1989					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAACTCACCTTTTTTTTGTC	0.403																																																	0			6											124.0	137.0	133.0					6																	90432675		2203	4300	6503	90489396	SO:0001630	splice_region_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5967+1A>-	6.37:g.90432675delT			90489396	O15019|Q5T794	Frame_Shift_Del	DEL	ENST00000369393.3	37	CCDS5024.1																																																																																				0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Frame_Shift_Del
SEC63	11231	hgsc.bcm.edu	37	6	108214755	108214755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:108214755delT	ENST00000369002.4	-	16	1784	c.1605delA	c.(1603-1605)aaafs	p.K535fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	535	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.K535fs*28(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAGGTGTAGGTTTTTTTTTTA	0.343																																																	1	Deletion - Frameshift(1)	ovary(1)	6											115.0	119.0	117.0					6																	108214755		2202	4300	6502	108321448	SO:0001589	frameshift_variant	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1605delA	6.37:g.108214755delT	ENSP00000357998:p.Lys535fs		108321448	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Frame_Shift_Del	DEL	ENST00000369002.4	37	CCDS5061.1																																																																																				0.343	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214	
REV3L	5980	hgsc.bcm.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:111693903_111693904insG	ENST00000358835.3	-	14	6108_6109	c.5654_5655insC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000368802.3_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.P1807fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.P1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)																																									0			6																																								111800597	SO:0001589	frameshift_variant	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5655dupC	6.37:g.111693910_111693910dupG	ENSP00000351697:p.Pro1885fs		111800596	O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	CCDS5091.2																																																																																				0.431	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
ENPP3	5169	hgsc.bcm.edu	37	6	132006591	132006591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:132006591delC	ENST00000414305.1	+	14	1536	c.1208delC	c.(1207-1209)gccfs	p.A403fs	ENPP3_ENST00000358229.5_Frame_Shift_Del_p.A403fs|ENPP3_ENST00000357639.3_Frame_Shift_Del_p.A403fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GAAGGGCCTGCCCCCCGCATC	0.363																																																	0			6											133.0	151.0	145.0					6																	132006591		2203	4300	6503	132048284	SO:0001589	frameshift_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1208delC	6.37:g.132006591delC	ENSP00000406261:p.Ala403fs		132048284	Q5JTL3	Frame_Shift_Del	DEL	ENST00000414305.1	37	CCDS5148.1																																																																																				0.363	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2		
OR2A4	79541	hgsc.bcm.edu	37	6	132022010	132022010	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:132022010delA	ENST00000315453.2	-	1	625	c.532delT	c.(532-534)tgtfs	p.C178fs	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	178					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		AAGATTTCACAAAAAAAGTGA	0.458																																																	0			6											4.0	6.0	6.0					6																	132022010		1296	3636	4932	132063703	SO:0001589	frameshift_variant	79541			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"""GPCR / Class A : Olfactory receptors"""	14729	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 10"""	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.532delT	6.37:g.132022010delA	ENSP00000319546:p.Cys178fs		132063703	Q0VAR3|Q6IF18|Q9NQN0	Frame_Shift_Del	DEL	ENST00000315453.2	37	CCDS5149.1																																																																																				0.458	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908	
AHI1	54806	hgsc.bcm.edu	37	6	135784283	135784284	+	Frame_Shift_Ins	INS	-	-	T	rs202061323		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:135784283_135784284insT	ENST00000367800.4	-	6	1126_1127	c.910_911insA	c.(910-912)acafs	p.T304fs	AHI1_ENST00000457866.2_Frame_Shift_Ins_p.T304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.T304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307																																																	0			6	GRCh37	CI061497	AHI1	I																																				135825977	SO:0001589	frameshift_variant	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.911dupA	6.37:g.135784291_135784291dupT	ENSP00000356774:p.Thr304fs		135825976	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Frame_Shift_Ins	INS	ENST00000367800.4	37	CCDS47483.1																																																																																				0.307	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
AKAP12	9590	hgsc.bcm.edu	37	6	151671330	151671330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:151671330delA	ENST00000253332.1	+	3	1993	c.1804delA	c.(1804-1806)aaafs	p.K603fs	AKAP12_ENST00000354675.6_Frame_Shift_Del_p.K505fs|AKAP12_ENST00000359755.5_Frame_Shift_Del_p.K498fs|AKAP12_ENST00000402676.2_Frame_Shift_Del_p.K603fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	603					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CGATGGAGAGAAAAAAAGAGA	0.517																																					Melanoma(141;1616 1805 10049 24534 51979)												0			6											51.0	51.0	51.0					6																	151671330		2203	4300	6503	151713023	SO:0001589	frameshift_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1804delA	6.37:g.151671330delA	ENSP00000253332:p.Lys603fs		151713023	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Del	DEL	ENST00000253332.1	37	CCDS5229.1																																																																																				0.517	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
PHF14	9678	hgsc.bcm.edu	37	7	11030370	11030370	+	Frame_Shift_Del	DEL	A	A	-	rs188488010		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:11030370delA	ENST00000403050.3	+	4	1393	c.941delA	c.(940-942)caafs	p.Q314fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.Q29fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	314					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGGAGCTCTCAAAAAATGGAC	0.323																																																	0			7											112.0	98.0	102.0					7																	11030370		1839	4094	5933	10996895	SO:0001589	frameshift_variant	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.941delA	7.37:g.11030370delA	ENSP00000385795:p.Gln314fs		10996895	A7MCZ3|B4DI82	Frame_Shift_Del	DEL	ENST00000403050.3	37	CCDS47542.1																																																																																				0.323	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660	
ITGB8	3696	hgsc.bcm.edu	37	7	20371449	20371450	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:20371449_20371450insT	ENST00000222573.4	+	1	704_705	c.20_21insT	c.(19-24)gcttttfs	p.AF7fs	ITGB8_ENST00000537992.1_Intron|CTA-293F17.1_ENST00000605357.1_RNA|CTA-293F17.1_ENST00000603156.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	7					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCGGCCCTGGCTTTTTTTACCG	0.668																																																	0			7																																								20337975	SO:0001589	frameshift_variant	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.27dupT	7.37:g.20371456_20371456dupT	ENSP00000222573:p.Ala7fs		20337974	A4D133|B4DHD4	Frame_Shift_Ins	INS	ENST00000222573.4	37	CCDS5370.1																																																																																				0.668	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
RAPGEF5	9771	hgsc.bcm.edu	37	7	22197474	22197474	+	Splice_Site	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:22197474delT	ENST00000401957.2	-	5	894	c.647delA	c.(646-648)aag>ag	p.K216fs	RAPGEF5_ENST00000344041.6_Splice_Site_p.K366fs			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	216					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTGCTTACCTTTTTTTGTGG	0.398																																																	0			7											118.0	116.0	117.0					7																	22197474		1871	4095	5966	22163999	SO:0001630	splice_region_variant	9771			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.648+1A>-	7.37:g.22197474delT			22163999	A4D140|Q8IXU5	Frame_Shift_Del	DEL	ENST00000401957.2	37																																																																																					0.398	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294	Frame_Shift_Del
ANLN	54443	hgsc.bcm.edu	37	7	36489339	36489340	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:36489339_36489340insT	ENST00000265748.2	+	23	3365_3366	c.3144_3145insT	c.(3145-3147)tttfs	p.F1049fs	ANLN_ENST00000396068.2_Frame_Shift_Ins_p.F1012fs	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1049	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CCAACAGAGAATTTTGTGCAAG	0.391																																																	0			7																																								36455865	SO:0001589	frameshift_variant	54443			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.3148dupT	7.37:g.36489343_36489343dupT	ENSP00000265748:p.Phe1049fs		36455864	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Frame_Shift_Ins	INS	ENST00000265748.2	37	CCDS5447.1																																																																																				0.391	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
NME8	51314	hgsc.bcm.edu	37	7	37901718	37901718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:37901718delT	ENST00000199447.4	+	7	731	c.359delT	c.(358-360)attfs	p.I120fs	NME8_ENST00000440017.1_Frame_Shift_Del_p.I120fs|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	120					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GAGAGAAAAATTGCAGCAGGT	0.348																																																	0			7											55.0	59.0	57.0					7																	37901718		2203	4300	6503	37868243	SO:0001589	frameshift_variant	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.359delT	7.37:g.37901718delT	ENSP00000199447:p.Ile120fs		37868243	Q9NZH1	Frame_Shift_Del	DEL	ENST00000199447.4	37	CCDS5452.1																																																																																				0.348	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
URGCP	55665	hgsc.bcm.edu	37	7	43917500	43917500	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:43917500delG	ENST00000453200.1	-	6	2055	c.1562delC	c.(1561-1563)cctfs	p.P521fs	URGCP_ENST00000336086.6_Frame_Shift_Del_p.P478fs|URGCP_ENST00000223341.7_Frame_Shift_Del_p.P478fs|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Frame_Shift_Del_p.P512fs|URGCP_ENST00000447717.3_Frame_Shift_Del_p.P478fs|URGCP_ENST00000443736.1_Frame_Shift_Del_p.P478fs			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	521					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGCTTCTCAGGGGGGTCCAC	0.642																																																	0			7											52.0	56.0	55.0					7																	43917500		1972	4162	6134	43884025	SO:0001589	frameshift_variant	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1562delC	7.37:g.43917500delG	ENSP00000396918:p.Pro521fs		43884025	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Del	DEL	ENST00000453200.1	37	CCDS47578.1																																																																																				0.642	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
DTX2	113878	hgsc.bcm.edu	37	7	76129798	76129798	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:76129798delA	ENST00000324432.5	+	8	1701	c.1191delA	c.(1189-1191)atafs	p.I397fs	DTX2_ENST00000446600.1_Frame_Shift_Del_p.I306fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.I350fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.I397fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.I350fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.I397fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	397					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCAGGTCATAAAAAACTACA	0.527																																																	0			7											3.0	4.0	4.0					7																	76129798		1495	3503	4998	75967734	SO:0001589	frameshift_variant	113878				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1191delA	7.37:g.76129798delA	ENSP00000322885:p.Ile397fs		75967734	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	CCDS5587.1																																																																																				0.527	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2		
ZKSCAN5	23660	hgsc.bcm.edu	37	7	99103706	99103706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:99103706delC	ENST00000394170.2	+	2	290	c.39delC	c.(37-39)gacfs	p.D13fs	ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.D13fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.D13fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGACTTAGACCCCCCAGCTG	0.483																																																	0			7											85.0	88.0	87.0					7																	99103706		2203	4300	6503	98941642	SO:0001589	frameshift_variant	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.39delC	7.37:g.99103706delC	ENSP00000377725:p.Asp13fs		98941642	A4D280|D6W5S9	Frame_Shift_Del	DEL	ENST00000394170.2	37	CCDS5667.1																																																																																				0.483	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569	
ZAN	7455	hgsc.bcm.edu	37	7	100363155	100363155	+	RNA	DEL	A	A	-	rs201491474		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:100363155delA	ENST00000348028.3	+	0	4613				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGTGCCTCCACCCTGCAGGC	0.622																																																	0			7											28.0	31.0	30.0					7																	100363155		2081	4211	6292	100201091			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100363155delA			100201091	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37																																																																																					0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
AP1S1	1174	hgsc.bcm.edu	37	7	100802405	100802405	+	Frame_Shift_Del	DEL	G	G	-	rs571529719		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:100802405delG	ENST00000337619.5	+	4	475	c.357delG	c.(355-357)atgfs	p.M119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					AGTTTTTGATGGGGGGGGATG	0.562																																																	0			7											63.0	66.0	65.0					7																	100802405		2008	4168	6176	100589125	SO:0001589	frameshift_variant	1174			AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.357delG	7.37:g.100802405delG	ENSP00000336666:p.Met119fs		100589125	B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Del	DEL	ENST00000337619.5	37	CCDS47669.1																																																																																				0.562	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283	
CUX1	1523	hgsc.bcm.edu	37	7	101839974	101839974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:101839974delC	ENST00000292535.7	+	15	1321	c.1283delC	c.(1282-1284)gccfs	p.A428fs	CUX1_ENST00000550008.2_Frame_Shift_Del_p.A428fs|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000292538.4_Intron|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Frame_Shift_Del_p.A439fs|CUX1_ENST00000549414.2_Frame_Shift_Del_p.A428fs	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	428					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						TCTTTGCCGGCCCCCCCTCCT	0.567																																																	0			7											38.0	49.0	45.0					7																	101839974		2200	4299	6499	101626694	SO:0001589	frameshift_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.1283delC	7.37:g.101839974delC	ENSP00000292535:p.Ala428fs		101626694	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Frame_Shift_Del	DEL	ENST00000292535.7	37	CCDS5721.1																																																																																				0.567	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
TBXAS1	6916	hgsc.bcm.edu	37	7	139719863	139719863	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:139719863delA	ENST00000336425.5	+	17	1955	c.1566delA	c.(1564-1566)ccafs	p.P522fs	TBXAS1_ENST00000458722.1_Frame_Shift_Del_p.P568fs|TBXAS1_ENST00000263552.6_Frame_Shift_Del_p.P523fs|TBXAS1_ENST00000416849.2_Frame_Shift_Del_p.P569fs|TBXAS1_ENST00000411653.1_3'UTR|TBXAS1_ENST00000414508.2_3'UTR|TBXAS1_ENST00000448866.1_Frame_Shift_Del_p.P522fs|TBXAS1_ENST00000436047.2_Frame_Shift_Del_p.P523fs|TBXAS1_ENST00000425687.1_Frame_Shift_Del_p.P455fs			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	522					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCCTAGGTCCAAAAAATGGTG	0.438																																																	0			7											87.0	88.0	88.0					7																	139719863		2203	4300	6503	139366332	SO:0001589	frameshift_variant	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1566delA	7.37:g.139719863delA	ENSP00000338087:p.Pro522fs		139366332	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Frame_Shift_Del	DEL	ENST00000336425.5	37																																																																																					0.438	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1		
ATG9B	285973	hgsc.bcm.edu	37	7	150721218	150721218	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:150721218delG	ENST00000377974.2	-	1	368	c.293delC	c.(292-294)ccafs	p.P98fs	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Del_p.P98fs|ATG9B_ENST00000605938.1_Frame_Shift_Del_p.P98fs			Q674R7	ATG9B_HUMAN	autophagy related 9B	98	Pro-rich.				autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.T99fs*50(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCCTGTGTTGGGGGGGTGGC	0.647																																																	1	Insertion - Frameshift(1)	ovary(1)	7											16.0	20.0	19.0					7																	150721218		2006	4161	6167	150352151	SO:0001589	frameshift_variant	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.293delC	7.37:g.150721218delG	ENSP00000475005:p.Pro98fs		150352151	A1A5D3|Q6JRW5|Q8N8I8	Frame_Shift_Del	DEL	ENST00000377974.2	37																																																																																					0.647	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681	
ATG9B	285973	hgsc.bcm.edu	37	7	150721484	150721484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:150721484delC	ENST00000377974.2	-	1	102	c.27delG	c.(25-27)gggfs	p.G9fs	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Del_p.G9fs|ATG9B_ENST00000605938.1_Frame_Shift_Del_p.G9fs			Q674R7	ATG9B_HUMAN	autophagy related 9B	9					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTTCTTCTCCCCCCCCAGC	0.642																																																	0			7								28,31,2877		1,0,26,2,27,1412	3.0	4.0	4.0			3.1	0.2	7		4	45,83,6418		2,0,41,3,77,3150	no	codingComplex	ATG9B	NM_173681.5		3,0,67,5,104,4562	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9554,2.0095,1.9722			150721484	73,114,9295	1659	3688	5347	150352417	SO:0001589	frameshift_variant	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.27delG	7.37:g.150721484delC	ENSP00000475005:p.Gly9fs		150352417	A1A5D3|Q6JRW5|Q8N8I8	Frame_Shift_Del	DEL	ENST00000377974.2	37																																																																																					0.642	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681	
PAXIP1	22976	hgsc.bcm.edu	37	7	154782740	154782740	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:154782740delA	ENST00000404141.1	-	4	454	c.300delT	c.(298-300)tttfs	p.F100fs	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Frame_Shift_Del_p.F100fs			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	100	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAGTGATTCCAAAAAAAATCT	0.333																																																	0			7								16,3500		0,16,1742	47.0	45.0	45.0			5.3	1.0	7		46	34,7762		0,34,3864	no	frameshift	PAXIP1	NM_007349.3		0,50,5606	A1A1,A1R,RR		0.4361,0.4551,0.442			154782740	50,11262	1817	4069	5886	154413673	SO:0001589	frameshift_variant	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.300delT	7.37:g.154782740delA	ENSP00000384048:p.Phe100fs		154413673	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Frame_Shift_Del	DEL	ENST00000404141.1	37	CCDS47753.1																																																																																				0.333	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
TNKS	8658	hgsc.bcm.edu	37	8	9567544	9567544	+	Frame_Shift_Del	DEL	A	A	-	rs200458028		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:9567544delA	ENST00000310430.6	+	10	1684	c.1658delA	c.(1657-1659)gaafs	p.E553fs	TNKS_ENST00000518281.1_Frame_Shift_Del_p.E316fs|TNKS_ENST00000520408.1_Frame_Shift_Del_p.E553fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	553					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AATGTTAATGAAAAAAATAAA	0.338																																																	0			8											72.0	68.0	69.0					8																	9567544		2203	4300	6503	9604954	SO:0001589	frameshift_variant	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1658delA	8.37:g.9567544delA	ENSP00000311579:p.Glu553fs		9604954	O95272|Q4G0F2	Frame_Shift_Del	DEL	ENST00000310430.6	37	CCDS5974.1																																																																																				0.338	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	
MTUS1	57509	hgsc.bcm.edu	37	8	17581321	17581322	+	Frame_Shift_Ins	INS	-	-	T	rs369762682|rs535166254		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:17581321_17581322insT	ENST00000262102.6	-	4	2532_2533	c.2308_2309insA	c.(2308-2310)actfs	p.T770fs	MTUS1_ENST00000544260.1_5'Flank|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381861.3_5'Flank|MTUS1_ENST00000381869.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	770					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CGACTGTGCAGTTTTCAAGGAT	0.441																																																	0			8																																								17625602	SO:0001589	frameshift_variant	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2309dupA	8.37:g.17581325_17581325dupT	ENSP00000262102:p.Thr770fs		17625601	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Frame_Shift_Ins	INS	ENST00000262102.6	37	CCDS43717.1																																																																																				0.441	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
CCAR2	57805	hgsc.bcm.edu	37	8	22473324	22473324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:22473324delC	ENST00000308511.4	+	13	1756	c.1507delC	c.(1507-1509)cccfs	p.P504fs	RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Frame_Shift_Del_p.P179fs|CCAR2_ENST00000389279.3_Frame_Shift_Del_p.P504fs			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	504					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GGCCCCTCCACCCCCCCTAGA	0.572																																																	0			8											84.0	95.0	91.0					8																	22473324		2203	4300	6503	22529269	SO:0001589	frameshift_variant	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1507delC	8.37:g.22473324delC	ENSP00000310670:p.Pro504fs		22529269	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Frame_Shift_Del	DEL	ENST00000308511.4	37	CCDS34863.1																																																																																				0.572	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174	
ADAM7	8756	hgsc.bcm.edu	37	8	24350675	24350675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:24350675delT	ENST00000175238.6	+	16	1858	c.1775delT	c.(1774-1776)attfs	p.I592fs	ADAM7_ENST00000520720.1_Frame_Shift_Del_p.I364fs|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Frame_Shift_Del_p.I592fs	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	592	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGCAAAACTATTTTTTTATAC	0.413																																																	0			8											94.0	93.0	93.0					8																	24350675		2203	4299	6502	24406565	SO:0001589	frameshift_variant	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1775delT	8.37:g.24350675delT	ENSP00000175238:p.Ile592fs		24406565	A8K8X7|O75959|Q6PEJ6	Frame_Shift_Del	DEL	ENST00000175238.6	37	CCDS6045.1																																																																																				0.413	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
DOCK5	80005	hgsc.bcm.edu	37	8	25174578	25174580	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	GAA	GAA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:25174578_25174580delGAA	ENST00000276440.7	+	14	1418_1420	c.1374_1376delGAA	c.(1372-1377)gggaag>ggg	p.K461del		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	461	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTGACAAAGGGAAGAAGAAGACG	0.502																																					Pancreas(145;34 1887 3271 10937 30165)												0			8																																								25230497	SO:0001651	inframe_deletion	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1374_1376delGAA	8.37:g.25174584_25174586delGAA	ENSP00000276440:p.Lys461del		25230495	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	In_Frame_Del	DEL	ENST00000276440.7	37	CCDS6047.1																																																																																				0.502	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
CHRNA6	8973	hgsc.bcm.edu	37	8	42611740	42611741	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:42611740_42611741insA	ENST00000276410.2	-	5	956_957	c.601_602insT	c.(601-603)tggfs	p.W201fs	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Frame_Shift_Ins_p.W186fs	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	201					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	ACTGTTTTCCCAAAAATCATTC	0.347																																																	0			8																																								42730898	SO:0001589	frameshift_variant	8973			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.602dupT	8.37:g.42611745_42611745dupA	ENSP00000276410:p.Trp201fs		42730897	B2R8V4|B4DQH1	Frame_Shift_Ins	INS	ENST00000276410.2	37	CCDS6135.1																																																																																				0.347	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1		
ADHFE1	137872	hgsc.bcm.edu	37	8	67356834	67356834	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:67356834delA	ENST00000396623.3	+	5	235	c.204delA	c.(202-204)ctafs	p.L68fs	ADHFE1_ENST00000379385.4_Frame_Shift_Del_p.L68fs|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Frame_Shift_Del_p.L20fs	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	68					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGTAGGACCTAAAAAACATGG	0.408																																																	0			8											151.0	147.0	148.0					8																	67356834		2203	4300	6503	67519388	SO:0001589	frameshift_variant	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.204delA	8.37:g.67356834delA	ENSP00000379865:p.Leu68fs		67519388	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Frame_Shift_Del	DEL	ENST00000396623.3	37	CCDS6190.2																																																																																				0.408	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	
ZFHX4	79776	hgsc.bcm.edu	37	8	77763302	77763302	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:77763302delA	ENST00000521891.2	+	10	4593	c.4145delA	c.(4144-4146)caafs	p.Q1382fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.Q1356fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.Q1337fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.Q1337fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATGAACAGCAAAAAAGGCAA	0.403										HNSCC(33;0.089)																																							0			8											107.0	100.0	102.0					8																	77763302		1865	4111	5976	77925857	SO:0001589	frameshift_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4145delA	8.37:g.77763302delA	ENSP00000430497:p.Gln1382fs		77925857	G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	CCDS47878.2																																																																																				0.403	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
LRRCC1	85444	hgsc.bcm.edu	37	8	86057694	86057695	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:86057694_86057695insA	ENST00000360375.3	+	19	3196_3197	c.3047_3048insA	c.(3046-3051)gcaaaafs	p.AK1016fs	LRRCC1_ENST00000414626.2_Frame_Shift_Ins_p.AK996fs	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	1016					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACAATGGAAGCAAAAATTAAGC	0.297																																																	0			8																																								86244947	SO:0001589	frameshift_variant	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.3052dupA	8.37:g.86057699_86057699dupA	ENSP00000353538:p.Ala1016fs		86244946	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Frame_Shift_Ins	INS	ENST00000360375.3	37	CCDS43750.1																																																																																				0.297	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
GRHL2	79977	hgsc.bcm.edu	37	8	102505016	102505019	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AAGT	AAGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:102505016_102505019delAAGT	ENST00000251808.3	+	1	357_358	c.19_20delAAGT	c.(19-21)aag>g	p.K7fs	KB-1562D12.1_ENST00000520268.1_RNA|GRHL2_ENST00000395927.1_5'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	7	Transcription activation.				brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGAGTCGGACAAGTAAGTGGATCA	0.461																																																	0			8																																								102574195	SO:0001630	splice_region_variant	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.20+1AAGT>-	8.37:g.102505020_102505023delAAGT			102574192	A1L303|Q6NT03|Q9H8B8	In_Frame_Del	DEL	ENST00000251808.3	37	CCDS34931.1																																																																																				0.461	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	Frame_Shift_Del
LRP12	29967	hgsc.bcm.edu	37	8	105509439	105509440	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:105509439_105509440insT	ENST00000276654.5	-	5	1448_1449	c.1340_1341insA	c.(1339-1341)aacfs	p.N447fs	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Frame_Shift_Ins_p.N428fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	447	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAAAAGCAGTTTTTTTCATC	0.421																																																	0			8																																								105578616	SO:0001589	frameshift_variant	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1341dupA	8.37:g.105509446_105509446dupT	ENSP00000276654:p.Asn447fs		105578615	A8K137|B4DRQ2	Frame_Shift_Ins	INS	ENST00000276654.5	37	CCDS6303.1																																																																																				0.421	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
LRP12	29967	hgsc.bcm.edu	37	8	105511547	105511548	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:105511547_105511548insA	ENST00000276654.5	-	4	580_581	c.472_473insT	c.(472-474)tcafs	p.S158fs	LRP12_ENST00000424843.2_Frame_Shift_Ins_p.S139fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	158	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAACACACCTGAAAAATATGCC	0.356																																																	0			8																																								105580724	SO:0001589	frameshift_variant	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.473dupT	8.37:g.105511552_105511552dupA	ENSP00000276654:p.Ser158fs		105580723	A8K137|B4DRQ2	Frame_Shift_Ins	INS	ENST00000276654.5	37	CCDS6303.1																																																																																				0.356	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
KCNQ3	3786	hgsc.bcm.edu	37	8	133150233	133150233	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:133150233delT	ENST00000388996.4	-	12	2019	c.1599delA	c.(1597-1599)aaafs	p.K533fs	KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.K413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.K533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTCCTTGAATTTTTTTTTAT	0.453																																																	0			8											103.0	101.0	102.0					8																	133150233		2203	4300	6503	133219415	SO:0001589	frameshift_variant	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1599delA	8.37:g.133150233delT	ENSP00000373648:p.Lys533fs		133219415	A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Del	DEL	ENST00000388996.4	37	CCDS34943.1																																																																																				0.453	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
OPLAH	26873	hgsc.bcm.edu	37	8	145109542	145109542	+	Frame_Shift_Del	DEL	G	G	-	rs539582965	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:145109542delG	ENST00000426825.1	-	19	2689	c.2608delC	c.(2608-2610)cacfs	p.H870fs	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	870					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGTGGAGTGGGGGGGCATG	0.642																																																	0			8											41.0	48.0	46.0					8																	145109542		2102	4221	6323	145181530	SO:0001589	frameshift_variant	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2608delC	8.37:g.145109542delG	ENSP00000475943:p.His870fs		145181530	A5PKY8|Q75W65|Q9Y4Q0	Frame_Shift_Del	DEL	ENST00000426825.1	37																																																																																					0.642	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	
PLGRKT	55848	hgsc.bcm.edu	37	9	5361787	5361787	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:5361787delA	ENST00000223864.2	-	4	404	c.183delT	c.(181-183)tttfs	p.F61fs	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	61					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											CTGCAAGGCCAAAAAAAGTTC	0.383																																																	0			9											92.0	90.0	91.0					9																	5361787		2203	4300	6503	5351787	SO:0001589	frameshift_variant	55848			AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.183delT	9.37:g.5361787delA	ENSP00000223864:p.Phe61fs		5351787	B2R6W0|Q9NZ44	Frame_Shift_Del	DEL	ENST00000223864.2	37	CCDS6463.1																																																																																				0.383	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1	NM_018465	
CNTLN	54875	hgsc.bcm.edu	37	9	17135271	17135271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:17135271delG	ENST00000380647.3	+	1	292	c.208delG	c.(208-210)gggfs	p.G71fs	CNTLN_ENST00000262360.5_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000425824.1_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000380641.4_Frame_Shift_Del_p.G71fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	71					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCGAGGGCCTGGGGGGGCAGC	0.687																																																	0			9							,	17,15,3612		0,0,17,0,15,1790					,	-9.0	0.0			16	35,39,7786		2,0,31,1,37,3859	no	codingComplex,codingComplex	CNTLN	NM_017738.2,NM_001114395.1	,	2,0,48,1,52,5649	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9415,0.8782,0.9214	,	,		52,54,11398				17125271	SO:0001589	frameshift_variant	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.208delG	9.37:g.17135271delG	ENSP00000370021:p.Gly71fs		17125271	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Del	DEL	ENST00000380647.3	37	CCDS43789.1																																																																																				0.687	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
PIGO	84720	hgsc.bcm.edu	37	9	35091693	35091693	+	Frame_Shift_Del	DEL	G	G	-	rs148341577		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:35091693delG	ENST00000378617.3	-	7	2585	c.2191delC	c.(2191-2193)cgtfs	p.R731fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Del_p.R731fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	731					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.R731fs*17(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCCGGAGACGGGGGGGAGCC	0.662																																																	1	Deletion - Frameshift(1)	large_intestine(1)	9							,,	5,4057		0,5,2026	25.0	29.0	28.0		,,	5.4	1.0	9		28	12,7918		0,12,3953	no	intron,frameshift,intron	PIGO	NM_152850.3,NM_032634.3,NM_001201484.1	,,	0,17,5979	A1A1,A1R,RR		0.1513,0.1231,0.1418	,,	,,	35091693	17,11975	2145	4204	6349	35081693	SO:0001589	frameshift_variant	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2191delC	9.37:g.35091693delG	ENSP00000367880:p.Arg731fs		35081693	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Del	DEL	ENST00000378617.3	37	CCDS6575.1																																																																																				0.662	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	
RUSC2	9853	hgsc.bcm.edu	37	9	35547974	35547974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:35547974delC	ENST00000455600.1	+	2	2025	c.1456delC	c.(1456-1458)cccfs	p.P487fs		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	487						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAATACTTCACCCCCCAACCT	0.602																																																	0			9											68.0	74.0	72.0					9																	35547974		2203	4300	6503	35537974	SO:0001589	frameshift_variant	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1456delC	9.37:g.35547974delC	ENSP00000393922:p.Pro487fs		35537974	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Frame_Shift_Del	DEL	ENST00000455600.1	37	CCDS35008.1																																																																																				0.602	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
ZBTB5	9925	hgsc.bcm.edu	37	9	37442272	37442272	+	Frame_Shift_Del	DEL	C	C	-	rs369892279		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:37442272delC	ENST00000307750.4	-	2	465	c.277delG	c.(277-279)gagfs	p.E93fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	93	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACATTGCTCTCCCCCAGCATG	0.483																																																	0			9											174.0	129.0	144.0					9																	37442272		2203	4300	6503	37432272	SO:0001589	frameshift_variant	9925			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.277delG	9.37:g.37442272delC	ENSP00000307604:p.Glu93fs		37432272		Frame_Shift_Del	DEL	ENST00000307750.4	37	CCDS6610.1																																																																																				0.483	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872	
FOXD4L2	100036519	hgsc.bcm.edu	37	9	42719309	42719311	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	GCT	GCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:42719309_42719311delGCT	ENST00000377590.1	+	1	2076_2078	c.1244_1246delGCT	c.(1243-1248)cgctgc>cgc	p.C416del		NM_001099279.1	NP_001092749.1	Q6VB85	FX4L2_HUMAN	forkhead box D4-like 2	416					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CCTCGTCGGCGCTGCTGAGGTAT	0.64																																																	0			9																																								42709307	SO:0001651	inframe_deletion	100036519					9p12	2008-07-21			ENSG00000204828				24813	protein-coding gene	gene with protein product						12421752	Standard			Approved	OTTHUMG00000066752	uc004acn.3	Q6VB85	OTTHUMG00000066752	ENST00000377590.1:c.1244_1246delGCT	9.37:g.42719312_42719314delGCT	ENSP00000366814:p.Cys416del		42709305		In_Frame_Del	DEL	ENST00000377590.1	37	CCDS43817.1																																																																																				0.640	FOXD4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143077.1	NM_001099279	
C9orf41	138199	hgsc.bcm.edu	37	9	77631201	77631202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:77631201_77631202insT	ENST00000376834.3	-	3	724_725	c.572_573insA	c.(571-573)aatfs	p.N191fs	C9orf41_ENST00000376837.3_Frame_Shift_Ins_p.N191fs|RP11-197P3.5_ENST00000455336.2_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	191								p.N191K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CTTTTGGAAAATTTTTTAAAAT	0.342																																																	1	Substitution - Missense(1)	endometrium(1)	9																																								76821022	SO:0001589	frameshift_variant	138199			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.573dupA	9.37:g.77631207_77631207dupT	ENSP00000366030:p.Asn191fs		76821021	Q7Z383|Q8N7C5	Frame_Shift_Ins	INS	ENST00000376834.3	37	CCDS6649.1																																																																																				0.342	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420	
VPS13A	23230	hgsc.bcm.edu	37	9	79931126	79931128	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	TTA	TTA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:79931126_79931128delTTA	ENST00000360280.3	+	39	4927_4929	c.4667_4669delTTA	c.(4666-4671)gttatt>gtt	p.I1558del	VPS13A_ENST00000376636.3_In_Frame_Del_p.I1519del|VPS13A_ENST00000376634.4_In_Frame_Del_p.I1558del|VPS13A_ENST00000357409.5_In_Frame_Del_p.I1558del|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1558					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAATTAATGTTATTATTAAAAA	0.251																																																	0			9																																								79120948	SO:0001651	inframe_deletion	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4667_4669delTTA	9.37:g.79931132_79931134delTTA	ENSP00000353422:p.Ile1558del		79120946	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	In_Frame_Del	DEL	ENST00000360280.3	37	CCDS6655.1																																																																																				0.251	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
ZNF462	58499	hgsc.bcm.edu	37	9	109688688	109688688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:109688688delA	ENST00000277225.5	+	3	2784	c.2495delA	c.(2494-2496)gaafs	p.E832fs	ZNF462_ENST00000457913.1_Frame_Shift_Del_p.E832fs|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	832					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACAATAGTGAAAACACAGAC	0.423																																																	0			9											105.0	103.0	104.0					9																	109688688		2203	4300	6503	108728509	SO:0001589	frameshift_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2495delA	9.37:g.109688688delA	ENSP00000277225:p.Glu832fs		108728509	Q5T0T4|Q8N408	Frame_Shift_Del	DEL	ENST00000277225.5	37	CCDS35096.1																																																																																				0.423	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ANGPTL2	23452	hgsc.bcm.edu	37	9	129870930	129870930	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:129870930delA	ENST00000373425.3	-	2	698	c.81delT	c.(79-81)tttfs	p.F27fs	ANGPTL2_ENST00000373417.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	27					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CAGTGCCCTCAAAACCGTCCT	0.582																																																	0			9											63.0	54.0	57.0					9																	129870930		2203	4300	6503	128910751	SO:0001589	frameshift_variant	51129			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.81delT	9.37:g.129870930delA	ENSP00000362524:p.Phe27fs		128910751	Q5JT58|Q8NCH7	Frame_Shift_Del	DEL	ENST00000373425.3	37	CCDS6868.1																																																																																				0.582	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
SLC2A8	29988	hgsc.bcm.edu	37	9	130165010	130165011	+	Frame_Shift_Ins	INS	-	-	C	rs199808560		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:130165010_130165011insC	ENST00000373371.3	+	5	790_791	c.701_702insC	c.(700-705)gaccccfs	p.DP234fs	SLC2A8_ENST00000373360.3_Frame_Shift_Ins_p.DP234fs|SLC2A8_ENST00000373352.1_Intron	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	234					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GGCTGGGAAGACCCCCCCATCG	0.673																																																	0			9								5,4101		0,5,2048						4.0	1.0			12	9,7993		2,5,3994	no	frameshift	SLC2A8	NM_014580.3		2,10,6042	A1A1,A1R,RR		0.1125,0.1218,0.1156				14,12094				129204832	SO:0001589	frameshift_variant	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.708dupC	9.37:g.130165017_130165017dupC	ENSP00000362469:p.Asp234fs		129204831	Q8WUZ9|Q9NSC4	Frame_Shift_Ins	INS	ENST00000373371.3	37	CCDS6870.1																																																																																				0.673	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580	
RABL6	55684	hgsc.bcm.edu	37	9	139733732	139733732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:139733732delC	ENST00000311502.7	+	12	1788	c.1552delC	c.(1552-1554)cccfs	p.P519fs	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371663.4_Frame_Shift_Del_p.P520fs|RABL6_ENST00000371675.3_Frame_Shift_Del_p.P404fs|RABL6_ENST00000432842.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	519					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GACCGCAGCACCCCCCTGGCC	0.667																																																	0			9											22.0	30.0	27.0					9																	139733732		2077	4205	6282	138853553	SO:0001589	frameshift_variant	55684			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1552delC	9.37:g.139733732delC	ENSP00000311134:p.Pro519fs		138853553	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Frame_Shift_Del	DEL	ENST00000311502.7	37	CCDS48058.1																																																																																				0.667	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718	
PHYH	5264	hgsc.bcm.edu	37	10	13325835	13325835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:13325835delC	ENST00000263038.4	-	7	741	c.683delG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396920.3_Frame_Shift_Del_p.G211fs|PHYH_ENST00000396913.2_Frame_Shift_Del_p.G128fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTGTTAACTCCCCCCTAGAA	0.463																																																	0			10											229.0	238.0	235.0					10																	13325835		2203	4300	6503	13365841	SO:0001589	frameshift_variant	5264				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.683delG	10.37:g.13325835delC	ENSP00000263038:p.Gly228fs		13365841	A8MTS8|B1ALH5	Frame_Shift_Del	DEL	ENST00000263038.4	37	CCDS7097.1																																																																																				0.463	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2		
SVIL	6840	hgsc.bcm.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:29760116delC	ENST00000355867.4	-	31	6338	c.5586delG	c.(5584-5586)gggfs	p.G1862fs	SVIL_ENST00000460007.1_5'Flank|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Del_p.G776fs|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375398.2_Frame_Shift_Del_p.G1862fs|SVIL_ENST00000375400.3_Frame_Shift_Del_p.G1436fs	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1862					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCACCACCATCCCCCCCTGGA	0.527																																																	0			10											75.0	62.0	67.0					10																	29760116		2203	4300	6503	29800122	SO:0001589	frameshift_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5586delG	10.37:g.29760116delC	ENSP00000348128:p.Gly1862fs		29800122	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Del	DEL	ENST00000355867.4	37	CCDS7164.1																																																																																				0.527	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
CCDC7	79741	hgsc.bcm.edu	37	10	33018277	33018277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:33018277delA	ENST00000375030.2	+	13	1360	c.742delA	c.(742-744)aaafs	p.K250fs	C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs|C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs			Q9H943	CJ068_HUMAN		242										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTAGAAATCAAAAAAAAGGA	0.323																																																	0			10											49.0	52.0	51.0					10																	33018277		2200	4293	6493	33058283	SO:0001589	frameshift_variant	79741																														ENST00000375030.2:c.742delA	10.37:g.33018277delA	ENSP00000364170:p.Lys250fs		33058283	B0QZ71|Q08AN7|Q8N7T7	Frame_Shift_Del	DEL	ENST00000375030.2	37																																																																																					0.323	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2		
ITGB1	3688	hgsc.bcm.edu	37	10	33208969	33208969	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:33208969delT	ENST00000396033.2	-	11	1448	c.1313delA	c.(1312-1314)aagfs	p.K438fs	ITGB1_ENST00000374956.4_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000423113.1_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000302278.3_Frame_Shift_Del_p.K438fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	438					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GTCAGAATCCTTTTTTGGACA	0.338																																																	0			10											122.0	130.0	128.0					10																	33208969		2203	4300	6503	33248975	SO:0001589	frameshift_variant	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1313delA	10.37:g.33208969delT	ENSP00000379350:p.Lys438fs		33248975	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Frame_Shift_Del	DEL	ENST00000396033.2	37	CCDS7174.1																																																																																				0.338	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
GPRIN2	9721	hgsc.bcm.edu	37	10	46999591	46999592	+	In_Frame_Ins	INS	-	-	ATGAGGGAG	rs112620425	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	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	
ANK3	288	hgsc.bcm.edu	37	10	61865700	61865701	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:61865700_61865701insT	ENST00000280772.2	-	28	3481_3482	c.3290_3291insA	c.(3289-3291)aatfs	p.N1097fs	ANK3_ENST00000503366.1_Frame_Shift_Ins_p.N1098fs|ANK3_ENST00000373827.2_Frame_Shift_Ins_p.N1091fs|ANK3_ENST00000355288.2_Frame_Shift_Ins_p.N231fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1097	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAAATCTTCATTTTTGCTGTC	0.396																																																	0			10																																								61535707	SO:0001589	frameshift_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3291dupA	10.37:g.61865705_61865705dupT	ENSP00000280772:p.Asn1097fs		61535706	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	CCDS7258.1																																																																																				0.396	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
CCSER2	54462	hgsc.bcm.edu	37	10	86230175	86230176	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:86230175_86230176insA	ENST00000224756.8	+	8	2381_2382	c.2196_2197insA	c.(2197-2199)aaafs	p.K733fs	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000372088.2_Frame_Shift_Ins_p.K733fs|CCSER2_ENST00000543283.1_Frame_Shift_Ins_p.K160fs	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	733					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											ACGAAATAAAGAAAAAAGATGA	0.248																																																	0			10																																								86220156	SO:0001589	frameshift_variant	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2202dupA	10.37:g.86230181_86230181dupA	ENSP00000224756:p.Lys733fs		86220155	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Frame_Shift_Ins	INS	ENST00000224756.8	37	CCDS31235.1																																																																																				0.248	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
KIF20B	9585	hgsc.bcm.edu	37	10	91483748	91483748	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:91483748delA	ENST00000371728.3	+	14	1815	c.1750delA	c.(1750-1752)aaafs	p.K586fs	KIF20B_ENST00000394289.2_Frame_Shift_Del_p.K586fs|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Frame_Shift_Del_p.K586fs|KIF20B_ENST00000260753.4_Frame_Shift_Del_p.K586fs	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	586					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGAAGACTTGAAAAAAAAACT	0.294																																																	0			10								15,14,4143		0,0,15,3,8,2060	34.0	40.0	38.0			5.8	1.0	10		38	46,52,8118		0,0,46,12,28,4022	no	codingComplex	KIF20B	NM_016195.2		0,0,61,15,36,6082	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1928,0.6951,1.0252			91483748	61,66,12261	2165	4283	6448	91473728	SO:0001589	frameshift_variant	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1750delA	10.37:g.91483748delA	ENSP00000360793:p.Lys586fs		91473728	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Frame_Shift_Del	DEL	ENST00000371728.3	37																																																																																					0.294	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
FRA10AC1	118924	hgsc.bcm.edu	37	10	95445007	95445007	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:95445007delT	ENST00000359204.4	-	9	818	c.621delA	c.(619-621)aaafs	p.K207fs	FRA10AC1_ENST00000536233.1_Frame_Shift_Del_p.K207fs|FRA10AC1_ENST00000394100.2_Frame_Shift_Del_p.K207fs|FRA10AC1_ENST00000371430.2_Frame_Shift_Del_p.K207fs	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	207	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ACTTACTTAATTTAACAAGTG	0.264																																																	0			10											97.0	110.0	106.0					10																	95445007		2201	4295	6496	95434997	SO:0001589	frameshift_variant	118924			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.621delA	10.37:g.95445007delT	ENSP00000360488:p.Lys207fs		95434997	C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Frame_Shift_Del	DEL	ENST00000359204.4	37	CCDS7430.1																																																																																				0.264	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246	
NOC3L	64318	hgsc.bcm.edu	37	10	96106304	96106304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:96106304delT	ENST00000371361.3	-	11	1367	c.1267delA	c.(1267-1269)acafs	p.T423fs	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Frame_Shift_Del_p.T161fs|NOC3L_ENST00000371350.1_Frame_Shift_Del_p.T423fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	423					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CATAAAAATGTTTTTAACATC	0.244																																																	0			10											46.0	45.0	45.0					10																	96106304		2168	4237	6405	96096294	SO:0001589	frameshift_variant	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1267delA	10.37:g.96106304delT	ENSP00000360412:p.Thr423fs		96096294	Q9H5M6|Q9H9D8	Frame_Shift_Del	DEL	ENST00000371361.3	37	CCDS7433.1																																																																																				0.244	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
ZNF518A	9849	hgsc.bcm.edu	37	10	97916340	97916341	+	RNA	DEL	AA	AA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AA	AA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:97916340_97916341delAA	ENST00000534948.1	+	0	1118_1119							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CTATCAGTATAAAGACTGTAAG	0.337																																																	0			10																																								97906331			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916340_97916341delAA			97906330	A0PJI5|O15044|Q32MP4	Frame_Shift_Del	DEL	ENST00000534948.1	37																																																																																					0.337	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803	
HPS1	3257	hgsc.bcm.edu	37	10	100186987	100186987	+	Frame_Shift_Del	DEL	G	G	-	rs281865082		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:100186987delG	ENST00000325103.6	-	11	1205	c.972delC	c.(970-972)cccfs	p.P324fs	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Frame_Shift_Del_p.P324fs	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	324					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.M325fs*128(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGGCATCCATGGGGGGGGTGC	0.572									Hermansky-Pudlak syndrome																																								1	Insertion - Frameshift(1)	large_intestine(1)	10	GRCh37	CD982691	HPS1	D							28.0	26.0	27.0					10																	100186987		2079	3959	6038	100176977	SO:0001589	frameshift_variant	3257	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.972delC	10.37:g.100186987delG	ENSP00000326649:p.Pro324fs		100176977	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Frame_Shift_Del	DEL	ENST00000325103.6	37	CCDS7475.1																																																																																				0.572	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639	
ADD3	120	hgsc.bcm.edu	37	10	111893350	111893350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:111893350delA	ENST00000356080.4	+	15	2462	c.2095delA	c.(2095-2097)aaafs	p.K701fs	ADD3_ENST00000277900.8_Frame_Shift_Del_p.K669fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	701	Interaction with calmodulin. {ECO:0000255}.					cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAAAAGAACAAAAAAAAGGA	0.333																																																	0			10											51.0	59.0	56.0					10																	111893350		2198	4295	6493	111883340	SO:0001589	frameshift_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.2095delA	10.37:g.111893350delA	ENSP00000348381:p.Lys701fs		111883340	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Frame_Shift_Del	DEL	ENST00000356080.4	37	CCDS7561.1																																																																																				0.333	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903	
ECHS1	1892	hgsc.bcm.edu	37	10	135179533	135179534	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:135179533_135179534insT	ENST00000368547.3	-	6	1040_1041	c.685_686insA	c.(685-687)attfs	p.I229fs		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	229					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		ATTGCTGGCAATTTTTTCTGCA	0.47																																					GBM(132;1720 1771 5373 10277 21402)												0			10																																								135029524	SO:0001589	frameshift_variant	1892				CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.686dupA	10.37:g.135179539_135179539dupT	ENSP00000357535:p.Ile229fs		135029523	O00739|Q5VWY1|Q96H54	Frame_Shift_Ins	INS	ENST00000368547.3	37	CCDS7681.1																																																																																				0.470	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1		
RRP8	23378	hgsc.bcm.edu	37	11	6622647	6622648	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:6622647_6622648insG	ENST00000254605.6	-	3	765_766	c.648_649insC	c.(646-651)cccacafs	p.T217fs	RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000420936.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	217					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GTCTTCTCTGTGGGGGCCTCAG	0.614																																																	0			11																																								6579224	SO:0001589	frameshift_variant	23378			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.649dupC	11.37:g.6622652_6622652dupG	ENSP00000254605:p.Thr217fs		6579223	Q7KZ78|Q9BVM6	Frame_Shift_Ins	INS	ENST00000254605.6	37	CCDS31411.1																																																																																				0.614	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324	
MRGPRX4	117196	hgsc.bcm.edu	37	11	18195357	18195357	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:18195357delT	ENST00000314254.3	+	1	974	c.554delT	c.(553-555)attfs	p.I185fs	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCGTGGCTGATTTTTTTATGT	0.507																																																	0			11											180.0	173.0	176.0					11																	18195357		2199	4293	6492	18151933	SO:0001589	frameshift_variant	117196			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.554delT	11.37:g.18195357delT	ENSP00000314042:p.Ile185fs		18151933	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Frame_Shift_Del	DEL	ENST00000314254.3	37	CCDS7831.1																																																																																				0.507	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032	
KIF18A	81930	hgsc.bcm.edu	37	11	28119255	28119255	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:28119255delA	ENST00000263181.6	-	2	530	c.240delT	c.(238-240)tttfs	p.F80fs		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	80	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ACGTTTCATCAAAAACAGCAT	0.289																																																	0			11											58.0	57.0	57.0					11																	28119255		2201	4298	6499	28075831	SO:0001589	frameshift_variant	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.240delT	11.37:g.28119255delA	ENSP00000263181:p.Phe80fs		28075831	Q4VPE3|Q86VS5|Q9H0F3	Frame_Shift_Del	DEL	ENST00000263181.6	37	CCDS7867.1																																																																																				0.289	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
SLC3A2	6520	hgsc.bcm.edu	37	11	62649529	62649529	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:62649529delA	ENST00000377890.2	+	5	1060	c.892delA	c.(892-894)aaafs	p.K300fs	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs|SLC3A2_ENST00000377892.1_Frame_Shift_Del_p.K331fs|SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs|SLC3A2_ENST00000536981.1_5'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	300					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGGCTAAAAAAAAGAG	0.463																																																	1	Deletion - Frameshift(1)	ovary(1)	11											73.0	74.0	74.0					11																	62649529		2201	4298	6499	62406105	SO:0001589	frameshift_variant	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.892delA	11.37:g.62649529delA	ENSP00000367122:p.Lys300fs		62406105	Q13543	Frame_Shift_Del	DEL	ENST00000377890.2	37	CCDS8039.2																																																																																				0.463	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661	
RTN3	10313	hgsc.bcm.edu	37	11	63525656	63525656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:63525656delA	ENST00000377819.5	+	9	3236	c.3082delA	c.(3082-3084)aaafs	p.K1030fs	RTN3_ENST00000540798.1_Frame_Shift_Del_p.K918fs|C11orf95_ENST00000433688.1_lincRNA|RTN3_ENST00000341307.2_Frame_Shift_Del_p.Q212fs|RTN3_ENST00000339997.4_Frame_Shift_Del_p.K1011fs|RTN3_ENST00000354497.4_Frame_Shift_Del_p.P146fs|RTN3_ENST00000537981.1_Frame_Shift_Del_p.K234fs|RTN3_ENST00000356000.3_Frame_Shift_Del_p.K253fs	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	1030	Interaction with FADD.|Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGGAATCGCCAAAAAAAAGGC	0.333																																																	0			11											74.0	70.0	71.0					11																	63525656		2201	4298	6499	63282232	SO:0001589	frameshift_variant	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.3082delA	11.37:g.63525656delA	ENSP00000367050:p.Lys1030fs		63282232	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Frame_Shift_Del	DEL	ENST00000377819.5	37	CCDS58141.1																																																																																				0.333	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054	
NRXN2	9379	hgsc.bcm.edu	37	11	64457919	64457919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:64457919delC	ENST00000377551.1	-	4	1019	c.808delG	c.(808-810)gccfs	p.A270fs	NRXN2_ENST00000265459.6_Frame_Shift_Del_p.A270fs|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Frame_Shift_Del_p.A270fs			Q9P2S2	NRX2A_HUMAN	neurexin 2	270					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A270fs*27(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTCTCCCGGCCCCCCCCTCG	0.637																																																	1	Insertion - Frameshift(1)	central_nervous_system(1)	11											37.0	37.0	37.0					11																	64457919		2201	4297	6498	64214495	SO:0001589	frameshift_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.808delG	11.37:g.64457919delC	ENSP00000366774:p.Ala270fs		64214495	A7E2C1|Q9Y2D6	Frame_Shift_Del	DEL	ENST00000377551.1	37	CCDS8077.1																																																																																				0.637	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	
CDC42BPG	55561	hgsc.bcm.edu	37	11	64591974	64591974	+	Frame_Shift_Del	DEL	G	G	-	rs557823416		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:64591974delG	ENST00000342711.5	-	37	4626	c.4627delC	c.(4627-4629)ctafs	p.L1543fs		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TCAGGGGATAGGGGGAGGCTT	0.562																																																	0			11											51.0	55.0	54.0					11																	64591974		2201	4297	6498	64348550	SO:0001589	frameshift_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4627delC	11.37:g.64591974delG	ENSP00000345133:p.Leu1543fs		64348550		Frame_Shift_Del	DEL	ENST00000342711.5	37	CCDS31601.1																																																																																				0.562	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516	
CAPN1	823	hgsc.bcm.edu	37	11	64981481	64981481	+	IGR	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:64981481delC	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CGGCCGCTGTCCCCCCCCACC	0.692																																																	0			11								36,34,3558		4,0,28,0,34,1748	10.0	15.0	13.0			1.9	0.2	11		13	60,55,7653		0,0,60,4,47,3773	no	codingComplex	SLC22A20	NM_001004326.4		4,0,88,4,81,5521	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4804,1.9294,1.6234			64981481	96,89,11211	1934	4121	6055	64738057	SO:0001628	intergenic_variant	440044			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981481delC			64738057	Q2TTR0|Q6DHV4	Frame_Shift_Del	DEL	ENST00000527323.1	37	CCDS44644.1																																																																																				0.692	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1		
KAT5	10524	hgsc.bcm.edu	37	11	65481116	65481116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:65481116delC	ENST00000377046.3	+	6	766	c.494delC	c.(493-495)gccfs	p.A165fs	KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000352980.4_Frame_Shift_Del_p.A113fs|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Frame_Shift_Del_p.A146fs|KAT5_ENST00000341318.4_Frame_Shift_Del_p.A198fs	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	165					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGCGAGACAGCCCCGGCCTCG	0.537																																																	0			11											66.0	67.0	66.0					11																	65481116		2201	4297	6498	65237692	SO:0001589	frameshift_variant	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.494delC	11.37:g.65481116delC	ENSP00000366245:p.Ala165fs		65237692	B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Frame_Shift_Del	DEL	ENST00000377046.3	37	CCDS31610.1																																																																																				0.537	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388	
CCDC87	55231	hgsc.bcm.edu	37	11	66360164	66360164	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:66360164delT	ENST00000333861.3	-	1	390	c.323delA	c.(322-324)aacfs	p.N109fs	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	109					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTTCTGGTTGTTTTTGTGGCT	0.617											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			11											46.0	50.0	49.0					11																	66360164		2200	4295	6495	66116740	SO:0001589	frameshift_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.323delA	11.37:g.66360164delT	ENSP00000328487:p.Asn109fs	1091	66116740	Q8NE76	Frame_Shift_Del	DEL	ENST00000333861.3	37	CCDS8145.1																																																																																				0.617	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219	
INPPL1	3636	hgsc.bcm.edu	37	11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:71948748delC	ENST00000298229.2	+	26	3664	c.3460delC	c.(3460-3462)cccfs	p.P1155fs	INPPL1_ENST00000538751.1_Frame_Shift_Del_p.P913fs|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Frame_Shift_Del_p.P913fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1155					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGAGCTGCAGCCCCCCCGGGG	0.697																																																	0			11											10.0	12.0	12.0					11																	71948748		2120	4190	6310	71626396	SO:0001589	frameshift_variant	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3460delC	11.37:g.71948748delC	ENSP00000298229:p.Pro1155fs		71626396	B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	ENST00000298229.2	37	CCDS8213.1																																																																																				0.697	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	
POLD3	10714	hgsc.bcm.edu	37	11	74336609	74336609	+	Frame_Shift_Del	DEL	A	A	-	rs375954131		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:74336609delA	ENST00000263681.2	+	8	1019	c.890delA	c.(889-891)gaafs	p.E297fs	POLD3_ENST00000532497.1_Frame_Shift_Del_p.E191fs|POLD3_ENST00000527458.1_Frame_Shift_Del_p.E258fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	297					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CTGCAGAAGGAAAAAAAAAGG	0.458																																																	0			11											27.0	29.0	29.0					11																	74336609		2198	4291	6489	74014257	SO:0001589	frameshift_variant	10714			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.890delA	11.37:g.74336609delA	ENSP00000263681:p.Glu297fs		74014257	B7ZAI6|Q32MZ9|Q32N00	Frame_Shift_Del	DEL	ENST00000263681.2	37	CCDS8233.1																																																																																				0.458	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591	
CCDC67	159989	hgsc.bcm.edu	37	11	93104239	93104240	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:93104239_93104240insA	ENST00000298050.3	+	7	682_683	c.582_583insA	c.(583-585)aaafs	p.K195fs		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	195					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AACTAAATGGTAAAAAACAGTG	0.332																																																	0			11																																								92743888	SO:0001589	frameshift_variant	159989			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.588dupA	11.37:g.93104245_93104245dupA	ENSP00000298050:p.Lys195fs		92743887	Q8NEF1|Q96LL7	Frame_Shift_Ins	INS	ENST00000298050.3	37	CCDS44707.1																																																																																				0.332	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645	
C11orf57	55216	hgsc.bcm.edu	37	11	111953289	111953289	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:111953289delA	ENST00000280352.9	+	6	1108	c.472delA	c.(472-474)aaafs	p.K160fs	C11orf57_ENST00000420986.2_Frame_Shift_Del_p.K160fs|C11orf57_ENST00000532163.1_Frame_Shift_Del_p.K132fs|C11orf57_ENST00000393047.3_Frame_Shift_Del_p.K161fs|TIMM8B_ENST00000507614.1_5'Flank	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	160	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GAAATCCCACAAAAAAAAGCA	0.393																																																	0			11											74.0	80.0	78.0					11																	111953289		2201	4297	6498	111458499	SO:0001589	frameshift_variant	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.472delA	11.37:g.111953289delA	ENSP00000339076:p.Lys160fs		111458499	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Frame_Shift_Del	DEL	ENST00000280352.9	37	CCDS41715.1																																																																																				0.393	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195	
CD3G	917	hgsc.bcm.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	A	-	rs570768621|rs199676861	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118220583delA	ENST00000532917.1	+	3	273	c.205delA	c.(205-207)aaafs	p.K71fs	CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	71	Ig-like.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AACTGAAGATAAAAAAAAATG	0.403													AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion	3	0.000599042	0.0008	0.0014	5008	,	,		19811	0.0		0.001	False		,,,				2504	0.0																0			11	GRCh37	CM983819	CD3G	M							100.0	97.0	98.0					11																	118220583		2200	4296	6496	117725793	SO:0001589	frameshift_variant	445347			X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.205delA	11.37:g.118220583delA	ENSP00000431445:p.Lys71fs		117725793	Q2HIZ6	Frame_Shift_Del	DEL	ENST00000532917.1	37	CCDS8395.1																																																																																				0.403	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073	
KMT2A	4297	hgsc.bcm.edu	37	11	118344186	118344186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118344186delC	ENST00000389506.5	+	3	2312	c.2312delC	c.(2311-2313)accfs	p.T771fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T771fs|KMT2A_ENST00000534358.1_Frame_Shift_Del_p.T771fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	771					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)										TCACCTCTCACCCCCCCGTCT	0.453																																																	0			11											197.0	169.0	178.0					11																	118344186		2200	4296	6496	117849396	SO:0001589	frameshift_variant	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.2312delC	11.37:g.118344186delC	ENSP00000374157:p.Thr771fs		117849396	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	CCDS31686.1																																																																																				0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
BCL9L	283149	hgsc.bcm.edu	37	11	118770652	118770652	+	Frame_Shift_Del	DEL	G	G	-	rs139987150		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118770652delG	ENST00000334801.3	-	7	4344	c.3380delC	c.(3379-3381)ccafs	p.P1130fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1130	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGGTGGTGGTGGGGGGGGCAG	0.706																																																	0			11											35.0	36.0	36.0					11																	118770652		2199	4294	6493	118275862	SO:0001589	frameshift_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3380delC	11.37:g.118770652delG	ENSP00000335320:p.Pro1130fs		118275862	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	CCDS8403.1																																																																																				0.706	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
BCL9L	283149	hgsc.bcm.edu	37	11	118773098	118773098	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118773098delG	ENST00000334801.3	-	6	2318	c.1354delC	c.(1354-1356)cagfs	p.Q453fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	453	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.Q452fs*11(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTGGCTGCTGGGGGGGAGGG	0.682																																																	2	Deletion - Frameshift(2)	large_intestine(2)	11											13.0	17.0	16.0					11																	118773098		1652	3527	5179	118278308	SO:0001589	frameshift_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1354delC	11.37:g.118773098delG	ENSP00000335320:p.Gln453fs		118278308	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	CCDS8403.1																																																																																				0.682	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
C1QTNF5	114902	hgsc.bcm.edu	37	11	119210190	119210190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:119210190delC	ENST00000528368.1	-	3	814	c.583delG	c.(583-585)gccfs	p.A195fs	RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000525657.1_5'UTR|C1QTNF5_ENST00000445041.2_Frame_Shift_Del_p.A195fs|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	195	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTCACCATGGCCCCCCCCGAG	0.587																																																	0			11							,	38,8,4218		0,0,38,2,4,2088	82.0	75.0	77.0		,	4.4	1.0	11		78	16,14,8224		0,0,16,5,4,4102	no	utr-3,codingComplex	MFRP,C1QTNF5	NM_031433.2,NM_015645.3	,	0,0,54,7,8,6190	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,1.0788,0.6071	,	,	119210190	54,22,12442	2199	4295	6494	118715400	SO:0001589	frameshift_variant	114902			AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 5"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 3"""	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.583delG	11.37:g.119210190delC	ENSP00000431140:p.Ala195fs		118715400	A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Frame_Shift_Del	DEL	ENST00000528368.1	37	CCDS8420.1																																																																																				0.587	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388354.1	NM_015645	
OR10G9	219870	hgsc.bcm.edu	37	11	123894346	123894347	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:123894346_123894347insT	ENST00000375024.1	+	1	627_628	c.627_628insT	c.(628-630)tttfs	p.F210fs		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTCGGGCTGCTTTCTCCTGAT	0.554																																																	0			11																																								123399557	SO:0001589	frameshift_variant	219870			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.630dupT	11.37:g.123894349_123894349dupT	ENSP00000364164:p.Phe210fs		123399556		Frame_Shift_Ins	INS	ENST00000375024.1	37	CCDS31703.1																																																																																				0.554	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953	
SRPR	6734	hgsc.bcm.edu	37	11	126137087	126137087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:126137087delT	ENST00000332118.6	-	4	663	c.509delA	c.(508-510)aagfs	p.K170fs	FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	170					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K170fs*33(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTGGCCCCCTTTTTTTTGCT	0.438																																																	2	Deletion - Frameshift(2)	ovary(2)	11											347.0	340.0	342.0					11																	126137087		2201	4299	6500	125642297	SO:0001589	frameshift_variant	6734			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.509delA	11.37:g.126137087delT	ENSP00000328023:p.Lys170fs		125642297	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Del	DEL	ENST00000332118.6	37	CCDS31717.1																																																																																				0.438	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139	
CD69	969	hgsc.bcm.edu	37	12	9906143	9906144	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:9906143_9906144insT	ENST00000228434.3	-	5	613_614	c.533_534insA	c.(532-534)aacfs	p.N178fs		NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	178	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						TGACCTCTGTGTTTTTCAGAAA	0.317																																																	0			12																																								9797411	SO:0001589	frameshift_variant	969			Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.534dupA	12.37:g.9906148_9906148dupT	ENSP00000228434:p.Asn178fs		9797410		Frame_Shift_Ins	INS	ENST00000228434.3	37	CCDS8604.1																																																																																				0.317	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1		
TAS2R10	50839	hgsc.bcm.edu	37	12	10978281	10978282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:10978281_10978282insA	ENST00000240619.2	-	1	675_676	c.587_588insT	c.(586-588)ttafs	p.L196fs		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	196					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATACA	0.347																																																	0			12																																								10869549	SO:0001589	frameshift_variant	50839			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.588dupT	12.37:g.10978288_10978288dupA	ENSP00000240619:p.Leu196fs		10869548	Q3MIM9|Q6NTD9	Frame_Shift_Ins	INS	ENST00000240619.2	37	CCDS8634.1																																																																																				0.347	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1		
SLCO1B7	338821	hgsc.bcm.edu	37	12	21175856	21175856	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:21175856delA	ENST00000421593.2	+	4	413	c.413delA	c.(412-414)gaafs	p.E138fs	LST3_ENST00000381541.3_Frame_Shift_Del_p.E185fs|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Frame_Shift_Del_p.E185fs|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGCATAGGGGAAACCCCCATA	0.373																																																	0			12											134.0	133.0	133.0					12																	21175856		2203	4300	6503	21067123	SO:0001589	frameshift_variant	338821			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.413delA	12.37:g.21175856delA	ENSP00000394168:p.Glu138fs		21067123	Q71QF0	Frame_Shift_Del	DEL	ENST00000421593.2	37	CCDS44843.1																																																																																				0.373	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
RECQL	5965	hgsc.bcm.edu	37	12	21644547	21644547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:21644547delT	ENST00000444129.2	-	3	588	c.120delA	c.(118-120)aaafs	p.K40fs	RECQL_ENST00000421138.2_Frame_Shift_Del_p.K40fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	40					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V41fs*2(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGTCAGGACTTTTTTTTTCT	0.383								Other identified genes with known or suspected DNA repair function																																									1	Deletion - Frameshift(1)	large_intestine(1)	12											54.0	52.0	53.0					12																	21644547		2203	4300	6503	21535814	SO:0001589	frameshift_variant	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.120delA	12.37:g.21644547delT	ENSP00000416739:p.Lys40fs		21535814	A8K6G2	Frame_Shift_Del	DEL	ENST00000444129.2	37	CCDS31756.1																																																																																				0.383	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907	
TM7SF3	51768	hgsc.bcm.edu	37	12	27149701	27149701	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:27149701delA	ENST00000343028.4	-	4	717	c.492delT	c.(490-492)tttfs	p.F164fs	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	164						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TTGCTGGGGCAAACTTGATAG	0.418																																																	0			12											80.0	75.0	77.0					12																	27149701		2203	4300	6503	27040968	SO:0001589	frameshift_variant	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.492delT	12.37:g.27149701delA	ENSP00000342322:p.Phe164fs		27040968	B3KMZ3|Q9NUS4	Frame_Shift_Del	DEL	ENST00000343028.4	37	CCDS8710.1																																																																																				0.418	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551	
KRT83	3889	hgsc.bcm.edu	37	12	52714899	52714899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:52714899delC	ENST00000293670.3	-	1	283	c.221delG	c.(220-222)ggcfs	p.G74fs		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	74	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCGCACACGCCCCCGGAGCG	0.706																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)												0			12											51.0	56.0	55.0					12																	52714899		2203	4300	6503	51001166	SO:0001589	frameshift_variant	3889			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.221delG	12.37:g.52714899delC	ENSP00000293670:p.Gly74fs		51001166	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Frame_Shift_Del	DEL	ENST00000293670.3	37	CCDS8823.1																																																																																				0.706	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282	
MAP3K12	7786	hgsc.bcm.edu	37	12	53877706	53877708	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CCT	CCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:53877706_53877708delCCT	ENST00000267079.2	-	9	1471_1473	c.1246_1248delAGG	c.(1246-1248)aggdel	p.R416del	MAP3K12_ENST00000547035.1_In_Frame_Del_p.R449del|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_In_Frame_Del_p.R449del	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	416					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGAGCTCCTCCCTCCTCCTCATC	0.542																																																	0			12																																								52163975	SO:0001651	inframe_deletion	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1246_1248delAGG	12.37:g.53877712_53877714delCCT	ENSP00000267079:p.Arg416del		52163973	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	In_Frame_Del	DEL	ENST00000267079.2	37	CCDS8860.1																																																																																				0.542	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	
OR6C75	390323	hgsc.bcm.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393																																																	1	Deletion - Frameshift(1)	large_intestine(1)	12											154.0	133.0	140.0					12																	55759486		2203	4300	6503	54045753	SO:0001589	frameshift_variant	390323				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.592delT	12.37:g.55759486delT	ENSP00000368987:p.Phe199fs		54045753		Frame_Shift_Del	DEL	ENST00000343399.3	37	CCDS31820.1																																																																																				0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
MYO1A	4640	hgsc.bcm.edu	37	12	57422573	57422573	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:57422573delT	ENST00000442789.2	-	29	3385	c.3098delA	c.(3097-3099)aagfs	p.K1033fs	MYO1A_ENST00000300119.3_Frame_Shift_Del_p.K1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Del_p.K871fs|TAC3_ENST00000415231.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGACTCCCCTTTTTTTTGTA	0.557																																																	1	Unknown(1)	skin(1)	12											230.0	188.0	202.0					12																	57422573		2203	4300	6503	55708840	SO:0001589	frameshift_variant	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3098delA	12.37:g.57422573delT	ENSP00000393392:p.Lys1033fs		55708840	Q9UQD7	Frame_Shift_Del	DEL	ENST00000442789.2	37	CCDS8929.1																																																																																				0.557	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
GLI1	2735	hgsc.bcm.edu	37	12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-	rs368789621		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:57860075delG	ENST00000228682.2	+	8	906	c.815delG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Del_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Del_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTGCCACTGGGGGGGCTGC	0.597																																					Pancreas(157;841 1936 10503 41495 50368)												0			12											128.0	124.0	126.0					12																	57860075		2203	4300	6503	56146342	SO:0001589	frameshift_variant	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.815delG	12.37:g.57860075delG	ENSP00000228682:p.Trp272fs		56146342	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Del	DEL	ENST00000228682.2	37	CCDS8940.1																																																																																				0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
APAF1	317	hgsc.bcm.edu	37	12	99071207	99071207	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:99071207delA	ENST00000551964.1	+	13	2534	c.1798delA	c.(1798-1800)aaafs	p.K601fs	APAF1_ENST00000547045.1_Frame_Shift_Del_p.K601fs|APAF1_ENST00000550527.1_Frame_Shift_Del_p.K590fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K590fs|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Frame_Shift_Del_p.K601fs|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Frame_Shift_Del_p.K601fs|APAF1_ENST00000357310.1_Frame_Shift_Del_p.K601fs	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	601					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.N602fs*23(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATTTAGAAACAAAAAAAACAT	0.348																																																	1	Deletion - Frameshift(1)	large_intestine(1)	12											59.0	53.0	55.0					12																	99071207		2203	4300	6503	97595338	SO:0001589	frameshift_variant	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1798delA	12.37:g.99071207delA	ENSP00000448165:p.Lys601fs		97595338	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Frame_Shift_Del	DEL	ENST00000551964.1	37	CCDS9069.1																																																																																				0.348	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
SELPLG	6404	hgsc.bcm.edu	37	12	109017651	109017680	+	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	rs200527674|rs540144714|rs368721402|rs63748999|rs372173288|rs201851784|rs377406736|rs200694582|rs200732108|rs199985195|rs558357966	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:109017651_109017680delGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	ENST00000550948.1	-	2	628_657	c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	c.(403-435)caaccagtgcccacggaggcacagaccactcca>cca	p.QPVPTEAQTT135del	SELPLG_ENST00000388962.3_Splice_Site_p.NQCPR131del|SELPLG_ENST00000228463.6_In_Frame_Del_p.QPVPTEAQTT151del			Q14242	SELPL_HUMAN	selectin P ligand	135	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505206}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.Q135P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGCCAGTGGAGTGGTCTGTGCCTCCGTGGGCACTGGTTGAGTGGTCTG	0.617														558	0.111422	0.0817	0.0879	5008	,	,		27757	0.13		0.0835	False		,,,				2504	0.1779																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12							,	500,3762		33,434,1664					,	-2.0	0.0		dbSNP_129	146	1398,6854		132,1134,2860	no	coding,coding	SELPLG	NM_003006.4,NM_001206609.1	,	165,1568,4524	A1A1,A1R,RR		16.9413,11.7316,15.167	,	,		1898,10616				107541809	SO:0001651	inframe_deletion	6404				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	12.37:g.109017651_109017680delGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	ENSP00000447752:p.Gln135_Thr144del		107541780	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Frame_Shift_Del	DEL	ENST00000550948.1	37	CCDS31895.2																																																																																				0.617	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1		
TCHP	84260	hgsc.bcm.edu	37	12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:110344435delA	ENST00000312777.5	+	5	729	c.515delA	c.(514-516)gaafs	p.E172fs	TCHP_ENST00000405876.4_Frame_Shift_Del_p.E172fs	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CAGAAAGAAGAAAAAAAACAG	0.478																																																	0			12											63.0	63.0	63.0					12																	110344435		2203	4300	6503	108828818	SO:0001589	frameshift_variant	84260			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.515delA	12.37:g.110344435delA	ENSP00000324404:p.Glu172fs		108828818		Frame_Shift_Del	DEL	ENST00000312777.5	37	CCDS9137.1																																																																																				0.478	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	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	
SETD1B	23067	hgsc.bcm.edu	37	12	122242658	122242658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:122242658delC	ENST00000604567.1	+	2	83	c.15delC	c.(13-15)cacfs	p.H5fs	SETD1B_ENST00000267197.5_Frame_Shift_Del_p.H5fs|RHOF_ENST00000545544.1_5'Flank|SETD1B_ENST00000542440.1_Frame_Shift_Del_p.H5fs|RP11-347I19.8_ENST00000609067.1_lincRNA			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	5					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H8fs*27(2)		NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						AGAACAGTCACCCCCCCCACC	0.632																																																	2	Deletion - Frameshift(2)	large_intestine(2)	12											37.0	44.0	42.0					12																	122242658		692	1591	2283	120727041	SO:0001589	frameshift_variant	23067			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.15delC	12.37:g.122242658delC	ENSP00000474253:p.His5fs		120727041	F6MFW1	Frame_Shift_Del	DEL	ENST00000604567.1	37																																																																																					0.632	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000468264.1	XM_037523	
ABCB9	23457	hgsc.bcm.edu	37	12	123424719	123424719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:123424719delC	ENST00000542678.1	-	9	4520	c.1682delG	c.(1681-1683)ggcfs	p.G561fs	ABCB9_ENST00000346530.5_Frame_Shift_Del_p.G518fs|ABCB9_ENST00000280560.8_Frame_Shift_Del_p.G561fs|ABCB9_ENST00000540285.1_Frame_Shift_Del_p.G498fs|ABCB9_ENST00000344275.7_Frame_Shift_Del_p.G561fs|ABCB9_ENST00000442028.2_Frame_Shift_Del_p.G561fs|ABCB9_ENST00000392439.3_Frame_Shift_Del_p.G561fs|ABCB9_ENST00000442833.2_Frame_Shift_Del_p.G561fs|ABCB9_ENST00000541983.1_5'UTR			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	561	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CAGCACCCGGCCCCCCTCCAG	0.657																																					Ovarian(49;786 1333 9175 38236)												0			12											26.0	27.0	27.0					12																	123424719		2203	4299	6502	121990672	SO:0001589	frameshift_variant	23457			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1682delG	12.37:g.123424719delC	ENSP00000440288:p.Gly561fs		121990672	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Frame_Shift_Del	DEL	ENST00000542678.1	37	CCDS9241.1																																																																																				0.657	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624	
IFT88	8100	hgsc.bcm.edu	37	13	21170297	21170297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:21170297delA	ENST00000319980.6	+	10	761	c.434delA	c.(433-435)gaafs	p.E145fs	IFT88_ENST00000351808.5_Frame_Shift_Del_p.E136fs|IFT88_ENST00000382778.4_Frame_Shift_Del_p.E145fs|IFT88_ENST00000537103.1_Frame_Shift_Del_p.E117fs	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	145					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGCCCAGAGGAAAAAATAAAG	0.259																																																	0			13											67.0	70.0	69.0					13																	21170297		2203	4295	6498	20068297	SO:0001589	frameshift_variant	8100			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.434delA	13.37:g.21170297delA	ENSP00000323580:p.Glu145fs		20068297	A2A491|B4DUS2|Q5SZJ6|Q8N719	Frame_Shift_Del	DEL	ENST00000319980.6	37	CCDS31944.1																																																																																				0.259	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531	
RNF6	6049	hgsc.bcm.edu	37	13	26788240	26788241	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:26788240_26788241insA	ENST00000381588.4	-	5	2530_2531	c.1778_1779insT	c.(1777-1779)ttafs	p.L593fs	RNF6_ENST00000399762.2_Frame_Shift_Ins_p.L237fs|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Frame_Shift_Ins_p.L593fs|RNF6_ENST00000346166.3_Frame_Shift_Ins_p.L593fs	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	593					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTTCATTTAGTAAAAAAAAGTG	0.406																																																	0			13																																								25686241	SO:0001589	frameshift_variant	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1779dupT	13.37:g.26788248_26788248dupA	ENSP00000371000:p.Leu593fs		25686240	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Frame_Shift_Ins	INS	ENST00000381588.4	37	CCDS9316.1																																																																																				0.406	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977	
BRCA2	675	hgsc.bcm.edu	37	13	32913559	32913559	+	Frame_Shift_Del	DEL	A	A	-	rs80359479|rs80359481		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:32913559delA	ENST00000380152.3	+	11	5300	c.5067delA	c.(5065-5067)gcafs	p.A1689fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.A1689fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1689	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TACTTGAAGCAAAAAAATGGC	0.313			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			13								17,4187		1,15,2086	36.0	39.0	38.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		3.9	1.0	13	dbSNP_132	38	14,8208		1,12,4098	no	frameshift	BRCA2	NM_000059.3		2,27,6184	A1A1,A1R,RR		0.1703,0.4044,0.2495			32913559	31,12395	2181	4286	6467	31811559	SO:0001589	frameshift_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5067delA	13.37:g.32913559delA	ENSP00000369497:p.Ala1689fs		31811559	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	CCDS9344.1																																																																																				0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
KL	9365	hgsc.bcm.edu	37	13	33635594	33635594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:33635594delA	ENST00000380099.3	+	4	2386	c.2378delA	c.(2377-2379)gaafs	p.E793fs	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	793	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACTGAAGATGAAAAAAAGCTA	0.393																																																	0			13											64.0	65.0	65.0					13																	33635594		2203	4300	6503	32533594	SO:0001589	frameshift_variant	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2378delA	13.37:g.33635594delA	ENSP00000369442:p.Glu793fs		32533594	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Frame_Shift_Del	DEL	ENST00000380099.3	37	CCDS9347.1																																																																																				0.393	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		
MRPS31	10240	hgsc.bcm.edu	37	13	41341161	41341161	+	Frame_Shift_Del	DEL	T	T	-	rs556043646		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:41341161delT	ENST00000323563.6	-	2	197	c.161delA	c.(160-162)aatfs	p.N55fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	55						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TTGGATGTTATTTTTTGTCCT	0.323																																																	0			13											51.0	49.0	50.0					13																	41341161		2202	4298	6500	40239161	SO:0001589	frameshift_variant	10240			Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.161delA	13.37:g.41341161delT	ENSP00000315397:p.Asn55fs		40239161	B2RCS3|Q5VYC8|Q8WTV8	Frame_Shift_Del	DEL	ENST00000323563.6	37	CCDS9372.1																																																																																				0.323	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2		
COG3	83548	hgsc.bcm.edu	37	13	46085968	46085969	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:46085968_46085969delAG	ENST00000349995.5	+	16	1900_1901	c.1788_1789delAG	c.(1786-1791)tcagagfs	p.E597fs	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	597					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTGGAGCGTCAGAGTCTATCAG	0.406																																					Ovarian(150;1048 1859 18083 21577 42700)												0			13																																								44983970	SO:0001589	frameshift_variant	83548			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1788_1789delAG	13.37:g.46085970_46085971delAG	ENSP00000258654:p.Glu597fs		44983969	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Frame_Shift_Del	DEL	ENST00000349995.5	37	CCDS9398.1																																																																																				0.406	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2		
ERICH6B	220081	hgsc.bcm.edu	37	13	46170720	46170737	+	In_Frame_Del	DEL	CCAGATACTCTTCCTCCT	CCAGATACTCTTCCTCCT	-	rs373081063|rs117004691|rs28548352|rs142875900|rs28460344|rs45625342|rs375947127	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CCAGATACTCTTCCTCCT	CCAGATACTCTTCCTCCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:46170720_46170737delCCAGATACTCTTCCTCCT	ENST00000298738.2	-	3	568_585	c.404_421delAGGAGGAAGAGTATCTGG	c.(403-423)gaggaggaagagtatctgggg>ggg	p.EEEEYL135del		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		135	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						CCTTCCTTCCCCAGATActcttcctcctccagatgctc	0.486														1379	0.275359	0.1362	0.4308	5008	,	,		23489	0.1607		0.493	False		,,,				2504	0.2474																0			13								414,2088		68,278,905						-4.5	0.0		dbSNP_134	119	2412,2596		704,1004,796	no	coding	FAM194B	NM_182542.2		772,1282,1701	A1A1,A1R,RR		48.1629,16.5468,37.6298				2826,4684				45068738	SO:0001651	inframe_deletion	0																														ENST00000298738.2:c.404_421delAGGAGGAAGAGTATCTGG	13.37:g.46170720_46170737delCCAGATACTCTTCCTCCT	ENSP00000298738:p.Glu135_Leu140del		45068721	Q96MB5	In_Frame_Del	DEL	ENST00000298738.2	37	CCDS45045.1																																																																																				0.486	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044781.3		
CKAP2	26586	hgsc.bcm.edu	37	13	53049034	53049034	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:53049034delA	ENST00000378037.5	+	9	1900	c.1810delA	c.(1810-1812)aaafs	p.K606fs	CKAP2_ENST00000490903.1_Frame_Shift_Del_p.K557fs|CKAP2_ENST00000258607.5_Frame_Shift_Del_p.K605fs	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.K605fs*14(2)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TTTCAGTGTGAAAAAAAAGGT	0.318																																																	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	13											38.0	38.0	38.0					13																	53049034		2203	4300	6503	51947035	SO:0001589	frameshift_variant	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1810delA	13.37:g.53049034delA	ENSP00000367276:p.Lys606fs		51947035		Frame_Shift_Del	DEL	ENST00000378037.5	37	CCDS41893.1																																																																																				0.318	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2		
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG|RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783																0			14																																								52689231	SO:0001652	inframe_insertion	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup		52689230	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	ENST00000323669.5	37	CCDS53895.1																																																																																				0.703	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
AKAP5	9495	hgsc.bcm.edu	37	14	64935520	64935520	+	Frame_Shift_Del	DEL	A	A	-	rs559697318		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:64935520delA	ENST00000394718.4	+	2	786	c.408delA	c.(406-408)ccafs	p.P136fs	AKAP5_ENST00000320636.5_Frame_Shift_Del_p.P136fs|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	136	Essential to the intracellular anchoring function. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CAAGAGGGCCAAAAAGGAGTA	0.383																																																	0			14											99.0	111.0	107.0					14																	64935520		2203	4300	6503	64005273	SO:0001589	frameshift_variant	9495			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.408delA	14.37:g.64935520delA	ENSP00000378207:p.Pro136fs		64005273	A2RRB8	Frame_Shift_Del	DEL	ENST00000394718.4	37	CCDS9764.1																																																																																				0.383	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3		
ELMSAN1	91748	hgsc.bcm.edu	37	14	74196464	74196464	+	Frame_Shift_Del	DEL	G	G	-	rs537089743		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:74196464delG	ENST00000286523.5	-	4	2756	c.1974delC	c.(1972-1974)cccfs	p.P658fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P658fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGCTGAGGATGGGGGGCGGCG	0.627																																																	0			14											69.0	63.0	65.0					14																	74196464		2203	4300	6503	73266217	SO:0001589	frameshift_variant	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1974delC	14.37:g.74196464delG	ENSP00000286523:p.Pro658fs		73266217	Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	ENST00000286523.5	37	CCDS9819.1																																																																																				0.627	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278	
POTEB2	100287399	hgsc.bcm.edu	37	15	21066721	21066721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:21066721delT	ENST00000454856.4	-	2	540	c.508delA	c.(508-510)aggfs	p.R170fs		NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	170																	AGAGCTGTCCTTTTTTTGTTG	0.378																																																	0			15											0.0	1.0	1.0					15																	21066721		0	1	1	19331300	SO:0001589	frameshift_variant	339010				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.508delA	15.37:g.21066721delT	ENSP00000456953:p.Arg170fs		19331300		Frame_Shift_Del	DEL	ENST00000454856.4	37	CCDS59248.1																																																																																				0.378	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
NIPA2	81614	hgsc.bcm.edu	37	15	23021239	23021239	+	Frame_Shift_Del	DEL	T	T	-	rs532440024|rs145147241		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:23021239delT	ENST00000337451.3	-	4	710	c.98delA	c.(97-99)aagfs	p.K33fs	NIPA2_ENST00000398014.2_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000398013.3_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000359727.4_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000539711.2_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000559571.1_5'Flank	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	33						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AAGGAGGCCCTTTTTTTTCAA	0.448																																																	0			15											131.0	133.0	133.0					15																	23021239		2203	4300	6503	20572680	SO:0001589	frameshift_variant	81614			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.98delA	15.37:g.23021239delT	ENSP00000337618:p.Lys33fs		20572680	F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Del	DEL	ENST00000337451.3	37	CCDS10010.1																																																																																				0.448	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922	
FMN1	342184	hgsc.bcm.edu	37	15	33261041	33261041	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:33261041delG	ENST00000559047.1	-	5	2860	c.2861delC	c.(2860-2862)ccafs	p.P957fs	FMN1_ENST00000334528.9_Frame_Shift_Del_p.P734fs|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Frame_Shift_Del_p.P859fs			Q68DA7	FMN1_HUMAN	formin 1	957	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGGGGGAGGTGGGGGTGCAAG	0.612																																																	0			15											41.0	42.0	42.0					15																	33261041		1790	4039	5829	31048333	SO:0001589	frameshift_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2861delC	15.37:g.33261041delG	ENSP00000454047:p.Pro957fs		31048333	Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Del	DEL	ENST00000559047.1	37																																																																																					0.612	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
MGA	23269	hgsc.bcm.edu	37	15	42046641	42046642	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	TG	TG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:42046641_42046642delTG	ENST00000570161.1	+	17	7015_7016	c.7015_7016delTG	c.(7015-7017)tgtfs	p.C2339fs	MGA_ENST00000545763.1_Frame_Shift_Del_p.C2130fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.C2300fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.C2130fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.C2339fs			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)	TCAGAATAACTGTGTAGAATAC	0.381																																																	0			15																																								39833934	SO:0001589	frameshift_variant	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.7015_7016delTG	15.37:g.42046643_42046644delTG	ENSP00000457035:p.Cys2339fs		39833933	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	CCDS55959.1																																																																																				0.381	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
CAPN3	825	hgsc.bcm.edu	37	15	42701572	42701574	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AGG	AGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:42701572_42701574delAGG	ENST00000397163.3	+	17	2205_2207	c.1986_1988delAGG	c.(1984-1989)gcagga>gca	p.G663del	CAPN3_ENST00000357568.3_In_Frame_Del_p.G657del|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000569136.1_5'UTR|CAPN3_ENST00000397204.4_5'UTR|CAPN3_ENST00000337571.4_5'UTR|CAPN3_ENST00000356316.3_In_Frame_Del_p.G570del|CAPN3_ENST00000349748.3_In_Frame_Del_p.G571del|CAPN3_ENST00000561817.1_5'UTR|CAPN3_ENST00000318023.7_In_Frame_Del_p.G657del|CAPN3_ENST00000397200.4_In_Frame_Del_p.G151del	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	663	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGCAGATAGCAGGAGATGTGAGT	0.478																																																	0			15																																								40488866	SO:0001651	inframe_deletion	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1986_1988delAGG	15.37:g.42701572_42701574delAGG	ENSP00000380349:p.Gly663del		40488864	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	In_Frame_Del	DEL	ENST00000397163.3	37	CCDS45245.1																																																																																				0.478	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1		
DMXL2	23312	hgsc.bcm.edu	37	15	51857323	51857323	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:51857323delA	ENST00000251076.5	-	4	613	c.326delT	c.(325-327)ttgfs	p.L109fs	DMXL2_ENST00000543779.2_Frame_Shift_Del_p.L109fs|DMXL2_ENST00000449909.3_Frame_Shift_Del_p.L109fs|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	109						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CACAGAACTCAAAAAAAACTG	0.269																																																	0			15											31.0	31.0	31.0					15																	51857323		2195	4292	6487	49644615	SO:0001589	frameshift_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.326delT	15.37:g.51857323delA	ENSP00000251076:p.Leu109fs		49644615	B2RTR3|B7ZMH3|F5GWF1|O94938	Frame_Shift_Del	DEL	ENST00000251076.5	37	CCDS10141.1																																																																																				0.269	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
SLTM	79811	hgsc.bcm.edu	37	15	59186310	59186310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:59186310delT	ENST00000380516.2	-	11	1547	c.1460delA	c.(1459-1461)aatfs	p.N487fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.N56fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	487					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATCACTCGTATTTTTTTTATC	0.299																																																	0			15											108.0	100.0	103.0					15																	59186310		2190	4290	6480	56973602	SO:0001589	frameshift_variant	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1460delA	15.37:g.59186310delT	ENSP00000369887:p.Asn487fs		56973602	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	CCDS10168.2																																																																																				0.299	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	
ICE2	79664	hgsc.bcm.edu	37	15	60768348	60768349	+	De_novo_Start_OutOfFrame	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:60768348_60768349insT	ENST00000439632.1	-	0	293_294				NARG2_ENST00000561114.1_Frame_Shift_Ins_p.N20fs|NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000261520.4_Frame_Shift_Ins_p.N20fs	NM_001018089.1	NP_001018099.1														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCTTAAGGCCATTTTTGGGGGA	0.317																																																	0			15																																								58555641			79664																														ENST00000439632.1:c.-193->A	15.37:g.60768353_60768353dupT			58555640		Frame_Shift_Ins	INS	ENST00000439632.1	37																																																																																					0.317	NARG2-201	KNOWN	basic	protein_coding	protein_coding			
MESDC2	23184	hgsc.bcm.edu	37	15	81271633	81271633	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:81271633delT	ENST00000261758.4	-	3	718	c.632delA	c.(631-633)aagfs	p.K212fs	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	212					mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.K211fs*6(1)		cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TCCTTCCTTCTTTTTTTTGCC	0.493																																																	1	Deletion - Frameshift(1)	ovary(1)	15											75.0	78.0	77.0					15																	81271633		2203	4300	6503	79058688	SO:0001589	frameshift_variant	23184			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.632delA	15.37:g.81271633delT	ENSP00000261758:p.Lys212fs		79058688	B4DW84|D3DW96|Q969U1	Frame_Shift_Del	DEL	ENST00000261758.4	37	CCDS32308.1																																																																																				0.493	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154	
BNC1	646	hgsc.bcm.edu	37	15	83935798	83935798	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:83935798delG	ENST00000345382.2	-	3	310	c.225delC	c.(223-225)cccfs	p.P75fs	BNC1_ENST00000569704.1_Frame_Shift_Del_p.P68fs|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	75					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTGGATACATGGGGGGGATCC	0.423																																																	0			15											51.0	50.0	51.0					15																	83935798		2203	4300	6503	81726802	SO:0001589	frameshift_variant	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.225delC	15.37:g.83935798delG	ENSP00000307041:p.Pro75fs		81726802	Q15840	Frame_Shift_Del	DEL	ENST00000345382.2	37	CCDS10324.1																																																																																				0.423	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
IQGAP1	8826	hgsc.bcm.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:91019925delA	ENST00000268182.5	+	24	2939	c.2815delA	c.(2815-2817)aaafs	p.K940fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	940					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363																																																	0			15											105.0	121.0	116.0					15																	91019925		2198	4298	6496	88820929	SO:0001589	frameshift_variant	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2815delA	15.37:g.91019925delA	ENSP00000268182:p.Lys940fs		88820929	A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	CCDS10362.1																																																																																				0.363	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
GLIS2	84662	hgsc.bcm.edu	37	16	4384871	4384871	+	Frame_Shift_Del	DEL	G	G	-	rs147175353	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:4384871delG	ENST00000262366.3	+	5	1236	c.415delG	c.(415-417)gggfs	p.G140fs	GLIS2_ENST00000433375.1_Frame_Shift_Del_p.G140fs|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	140	Interaction with CTNND1. {ECO:0000250}.				cell differentiation (GO:0030154)|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)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.G139R(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTCGGCTCCGGGGGGGCCCT	0.657																																																	1	Substitution - Missense(1)	prostate(1)	16											45.0	55.0	51.0					16																	4384871		2197	4299	6496	4324872	SO:0001589	frameshift_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.415delG	16.37:g.4384871delG	ENSP00000262366:p.Gly140fs		4324872	B3KX84	Frame_Shift_Del	DEL	ENST00000262366.3	37	CCDS10511.1																																																																																				0.657	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575	
CRYM	1428	hgsc.bcm.edu	37	16	21289437	21289437	+	Frame_Shift_Del	DEL	C	C	-	rs571066423		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:21289437delC	ENST00000219599.3	-	3	401	c.136delG	c.(136-138)gtgfs	p.V46fs	CRYM_ENST00000574787.1_5'Flank|CRYM_ENST00000415987.2_Frame_Shift_Del_p.V4fs|CRYM_ENST00000543948.1_Frame_Shift_Del_p.V46fs|CRYM_ENST00000396023.2_Frame_Shift_Del_p.V46fs	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	46					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		ACGGTGCGCACGGGCTGCATG	0.662											OREG0023670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			16											25.0	22.0	23.0					16																	21289437		2105	4133	6238	21196938	SO:0001589	frameshift_variant	1428				CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.136delG	16.37:g.21289437delC	ENSP00000219599:p.Val46fs	747	21196938	D5MNX0|Q5HYB7	Frame_Shift_Del	DEL	ENST00000219599.3	37	CCDS10597.1																																																																																				0.662	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1		
RBBP6	5930	hgsc.bcm.edu	37	16	24582954	24582954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:24582954delA	ENST00000319715.4	+	18	4999	c.4567delA	c.(4567-4569)aaafs	p.K1524fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.K684fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.K1490fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1524	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGATTTGCCTAAAAAAGGAAC	0.368																																																	0			16											37.0	37.0	37.0					16																	24582954		2197	4297	6494	24490455	SO:0001589	frameshift_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4567delA	16.37:g.24582954delA	ENSP00000317872:p.Lys1524fs		24490455	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	CCDS10621.1																																																																																				0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
IL21R	50615	hgsc.bcm.edu	37	16	27455913	27455913	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:27455913delC	ENST00000337929.3	+	6	1031	c.558delC	c.(556-558)ctcfs	p.L186fs	IL21R_ENST00000564089.1_Frame_Shift_Del_p.L186fs|IL21R_ENST00000395754.4_Frame_Shift_Del_p.L186fs|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Frame_Shift_Del_p.L186fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	186	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCTCCCTCCTCCCCCTGGAGT	0.592			T	BCL6	NHL																																			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16											86.0	78.0	80.0					16																	27455913		2197	4300	6497	27363414	SO:0001589	frameshift_variant	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.558delC	16.37:g.27455913delC	ENSP00000338010:p.Leu186fs		27363414	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Frame_Shift_Del	DEL	ENST00000337929.3	37	CCDS10630.1																																																																																				0.592	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
ASPHD1	253982	hgsc.bcm.edu	37	16	29912629	29912629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:29912629delG	ENST00000308748.5	+	1	589	c.337delG	c.(337-339)gggfs	p.G114fs	SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank|SEZ6L2_ENST00000308713.5_5'Flank|ASPHD1_ENST00000483405.1_Intron|SEZ6L2_ENST00000350527.3_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	114	Gly-rich.				peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GAGCCGAGCTGGGGGTGTTCG	0.682																																																	0			16											32.0	39.0	37.0					16																	29912629		2129	4227	6356	29820130	SO:0001589	frameshift_variant	253982			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.337delG	16.37:g.29912629delG	ENSP00000311447:p.Gly114fs		29820130	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Frame_Shift_Del	DEL	ENST00000308748.5	37	CCDS10660.1																																																																																				0.682	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718	
INO80E	283899	hgsc.bcm.edu	37	16	30016653	30016653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:30016653delC	ENST00000563197.1	+	7	1642	c.625delC	c.(625-627)cccfs	p.P211fs	INO80E_ENST00000567705.1_Frame_Shift_Del_p.P194fs|INO80E_ENST00000304516.7_Frame_Shift_Del_p.P172fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	211	Pro-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.T212fs*3(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CCCTAAGATGCCCCCCCCCAC	0.672																																																	1	Deletion - Frameshift(1)	large_intestine(1)	16								76,238,3860		1,0,74,7,224,1781	15.0	13.0	13.0			4.9	1.0	16		13	126,491,7513		2,2,120,10,469,3462	no	codingComplex	INO80E	NM_173618.1		3,2,194,17,693,5243	A1A1,A1A2,A1R,A2A2,A2R,RR		7.5892,7.5228,7.5666			30016653	202,729,11373	2173	4255	6428	29924154	SO:0001589	frameshift_variant	283899			AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.625delC	16.37:g.30016653delC	ENSP00000457016:p.Pro211fs		29924154	Q6Y2K3	Frame_Shift_Del	DEL	ENST00000563197.1	37	CCDS10665.1																																																																																				0.672	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618	
CCDC79	283847	hgsc.bcm.edu	37	16	66824895	66824897	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AAT	AAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:66824895_66824897delAAT	ENST00000558713.2	-	3	129_131	c.57_59delATT	c.(55-60)ttattg>ttg	p.19_20LL>L	CCDC79_ENST00000415744.1_In_Frame_Del_p.19_20LL>L|CCDC79_ENST00000432602.1_In_Frame_Del_p.19_20LL>L|CCDC79_ENST00000433154.1_In_Frame_Del_p.19_20LL>L|CCDC79_ENST00000561333.1_5'UTR|CCDC79_ENST00000433574.1_In_Frame_Del_p.19_20LL>L			Q8NA31	TERB1_HUMAN	coiled-coil domain containing 79	19					meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						TAGACACTCCAATAATAAGTTCA	0.281																																																	0			16																																								65382398	SO:0001651	inframe_deletion	283847			AK093213		16q22.1	2012-10-03			ENSG00000249961	ENSG00000249961			26675	protein-coding gene	gene with protein product							Standard	NM_001136505		Approved	FLJ35894	uc010viv.2	Q8NA31	OTTHUMG00000133562	ENST00000558713.2:c.57_59delATT	16.37:g.66824898_66824900delAAT	ENSP00000462883:p.Leu20del		65382396	A0AUW1	In_Frame_Del	DEL	ENST00000558713.2	37																																																																																					0.281	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000418864.2		
OSGIN1	29948	hgsc.bcm.edu	37	16	83999526	83999526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:83999526delG	ENST00000343939.2	+	7	1980	c.1597delG	c.(1597-1599)gggfs	p.G533fs	OSGIN1_ENST00000361711.3_Frame_Shift_Del_p.G450fs|OSGIN1_ENST00000393306.1_Frame_Shift_Del_p.G450fs|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	533					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GCCGCTGGCCGGGGACAACTT	0.657																																																	0			16											20.0	20.0	20.0					16																	83999526		2195	4292	6487	82557027	SO:0001589	frameshift_variant	29948			AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1597delG	16.37:g.83999526delG	ENSP00000343376:p.Gly533fs		82557027	Q52M33|Q86UQ1|Q96S88|Q9BZ70	Frame_Shift_Del	DEL	ENST00000343939.2	37																																																																																					0.657	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370	
KLHL36	79786	hgsc.bcm.edu	37	16	84695234	84695235	+	Frame_Shift_Ins	INS	-	-	G	rs373757262		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:84695234_84695235insG	ENST00000564996.1	+	5	1487_1488	c.1346_1347insG	c.(1345-1350)tcggggfs	p.SG449fs	KLHL36_ENST00000258157.5_Frame_Shift_Ins_p.SG386fs	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	449					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTGTACATCTCGGGGGGCCACG	0.639																																																	0			16																																								83252736	SO:0001589	frameshift_variant	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1352dupG	16.37:g.84695240_84695240dupG	ENSP00000456743:p.Ser449fs		83252735	Q8N5G6|Q9H9U6	Frame_Shift_Ins	INS	ENST00000564996.1	37	CCDS10948.1																																																																																				0.639	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2		
GSE1	23199	hgsc.bcm.edu	37	16	85682290	85682290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:85682290delC	ENST00000253458.7	+	3	535	c.359delC	c.(358-360)accfs	p.T120fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	120								p.V123fs*2(1)									GTGCCCAGCACCCCCCCCGTG	0.687																																																	1	Deletion - Frameshift(1)	ovary(1)	16											64.0	64.0	64.0					16																	85682290		2197	4300	6497	84239791	SO:0001589	frameshift_variant	23199			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.359delC	16.37:g.85682290delC	ENSP00000253458:p.Thr120fs		84239791	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	CCDS10952.1																																																																																				0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615	
FOXL1	2300	hgsc.bcm.edu	37	16	86613231	86613231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:86613231delC	ENST00000320241.3	+	1	1117	c.902delC	c.(901-903)tccfs	p.S303fs		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	303					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTGGCCGCCTCCTCCAGCCTC	0.672																																					NSCLC(163;308 2020 10889 11476 18208)												0			16											21.0	25.0	24.0					16																	86613231		2198	4300	6498	85170732	SO:0001589	frameshift_variant	2300			AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.902delC	16.37:g.86613231delC	ENSP00000326272:p.Ser303fs		85170732	Q17RR1|Q9H242	Frame_Shift_Del	DEL	ENST00000320241.3	37	CCDS10959.1																																																																																				0.672	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250	
ZCCHC14	23174	hgsc.bcm.edu	37	16	87445899	87445899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:87445899delG	ENST00000268616.4	-	12	2234	c.2017delC	c.(2017-2019)cggfs	p.R673fs		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	673							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.R673R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGAGCAGTCCGGGGGTTTATT	0.512																																																	1	Substitution - coding silent(1)	lung(1)	16											77.0	94.0	88.0					16																	87445899		2197	4290	6487	86003400	SO:0001589	frameshift_variant	23174			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2017delC	16.37:g.87445899delG	ENSP00000268616:p.Arg673fs		86003400	D3DUN1|O60324|Q3MJD8|Q9UFP0	Frame_Shift_Del	DEL	ENST00000268616.4	37	CCDS10961.1																																																																																				0.512	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
VPS9D1	9605	hgsc.bcm.edu	37	16	89775777	89775777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:89775777delG	ENST00000389386.3	-	12	1579	c.1455delC	c.(1453-1455)cccfs	p.P485fs	VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Frame_Shift_Del_p.P415fs|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	485	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CAATGGCGGTGGGGGGTGCAT	0.692																																																	0			16											27.0	33.0	31.0					16																	89775777		1992	4142	6134	88303278	SO:0001589	frameshift_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.1455delC	16.37:g.89775777delG	ENSP00000374037:p.Pro485fs		88303278		Frame_Shift_Del	DEL	ENST00000389386.3	37	CCDS42220.1																																																																																				0.692	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913	
EFNB3	1949	hgsc.bcm.edu	37	17	7612856	7612856	+	Frame_Shift_Del	DEL	C	C	-	rs532773147	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:7612856delC	ENST00000226091.2	+	5	1382	c.985delC	c.(985-987)cccfs	p.P330fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	330					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GCAGGATGGGCCCCCCCAGAG	0.577																																																	0			17											51.0	48.0	49.0					17																	7612856		2203	4297	6500	7553581	SO:0001589	frameshift_variant	1949			U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.985delC	17.37:g.7612856delC	ENSP00000226091:p.Pro330fs		7553581	B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Del	DEL	ENST00000226091.2	37	CCDS11120.1																																																																																				0.577	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406	
ALOX12B	242	hgsc.bcm.edu	37	17	7979578	7979579	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:7979578_7979579insG	ENST00000319144.4	-	11	1706_1707	c.1446_1447insC	c.(1444-1449)cccaatfs	p.N483fs	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	483	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACAAAGTCATTGGGGAGGTAGA	0.589										Multiple Myeloma(8;0.094)																																							0			17																																								7920304	SO:0001589	frameshift_variant	242			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1447dupC	17.37:g.7979582_7979582dupG	ENSP00000315167:p.Asn483fs		7920303		Frame_Shift_Ins	INS	ENST00000319144.4	37	CCDS11129.1																																																																																				0.589	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		
ALOX12B	242	hgsc.bcm.edu	37	17	7982767	7982767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:7982767delG	ENST00000319144.4	-	8	1278	c.1018delC	c.(1018-1020)ctcfs	p.L340fs	AC129492.6_ENST00000399413.3_5'Flank|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	340	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGCAGGCAGAGGGGGGCGCAG	0.667										Multiple Myeloma(8;0.094)																																							0			17											21.0	19.0	19.0					17																	7982767		2125	4158	6283	7923492	SO:0001589	frameshift_variant	242			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1018delC	17.37:g.7982767delG	ENSP00000315167:p.Leu340fs		7923492		Frame_Shift_Del	DEL	ENST00000319144.4	37	CCDS11129.1																																																																																				0.667	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		
C17orf51	339263	hgsc.bcm.edu	37	17	21454584	21454584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:21454584delG	ENST00000391411.5	-	1	359	c.102delC	c.(100-102)cccfs	p.P34fs	C17orf51_ENST00000412778.3_Frame_Shift_Del_p.P34fs|C17orf51_ENST00000535846.1_Intron|RP11-822E23.8_ENST00000426261.2_RNA	NM_001113434.3	NP_001106905.1	A8MQB3	CQ051_HUMAN	chromosome 17 open reading frame 51	34										endometrium(1)	1						CCCGCGAAGAGGGGGTGAAAC	0.657																																																	0			17											18.0	24.0	22.0					17																	21454584		691	1591	2282	21395177	SO:0001589	frameshift_variant	339263			BC010612	CCDS45629.1	17p11.2	2012-10-11			ENSG00000212719	ENSG00000212719			27904	protein-coding gene	gene with protein product							Standard	XM_005256621		Approved	FLJ12977, FLJ31874, FLJ33618	uc002gyw.4	A8MQB3	OTTHUMG00000132832	ENST00000391411.5:c.102delC	17.37:g.21454584delG	ENSP00000384286:p.Pro34fs		21395177	B2RN29|B5MCL4	Frame_Shift_Del	DEL	ENST00000391411.5	37	CCDS45629.1																																																																																				0.657	C17orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256298.3	NM_001113434	
FAM222B	55731	hgsc.bcm.edu	37	17	27086258	27086258	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:27086258delG	ENST00000341217.5	-	3	934	c.719delC	c.(718-720)ccgfs	p.P240fs	FAM222B_ENST00000581407.1_Frame_Shift_Del_p.P240fs|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Frame_Shift_Del_p.P240fs	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	240																	GGTCACATTCGGGGGGGCATC	0.617																																																	0			17											25.0	27.0	26.0					17																	27086258		2105	4218	6323	24110385	SO:0001589	frameshift_variant	55731			AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.719delC	17.37:g.27086258delG	ENSP00000343115:p.Pro240fs		24110385	Q9H6F3|Q9NVJ4|Q9NXN6	Frame_Shift_Del	DEL	ENST00000341217.5	37	CCDS45637.1																																																																																				0.617	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182	
SMARCE1	6605	hgsc.bcm.edu	37	17	38787845	38787846	+	Splice_Site	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:38787845_38787846insT	ENST00000348513.6	-	9	1594_1595	c.814_815insA	c.(814-816)agg>aAgg	p.R272fs	SMARCE1_ENST00000578044.1_Splice_Site_p.R202fs|SMARCE1_ENST00000377808.4_Splice_Site_p.R237fs|SMARCE1_ENST00000544009.1_Splice_Site_p.R202fs|SMARCE1_ENST00000400122.3_Splice_Site_p.R202fs|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Splice_Site_p.R237fs|SMARCE1_ENST00000431889.2_Splice_Site_p.R254fs	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	272					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				AACAGATACCCTTTTAAGTTCA	0.312																																																	0			17																																								36041372	SO:0001630	splice_region_variant	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.816+1->A	17.37:g.38787849_38787849dupT			36041371	B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Frame_Shift_Ins	INS	ENST00000348513.6	37	CCDS11370.1																																																																																				0.312	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079	Frame_Shift_Ins
COIL	8161	hgsc.bcm.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																																	0			17											141.0	132.0	135.0					17																	55028016		2203	4300	6503	52383015	SO:0001589	frameshift_variant	8161			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs		52383015	B2R931	Frame_Shift_Del	DEL	ENST00000240316.4	37	CCDS11592.1																																																																																				0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1		
PRR11	55771	hgsc.bcm.edu	37	17	57247170	57247171	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:57247170_57247171insA	ENST00000262293.4	+	2	369_370	c.57_58insA	c.(58-60)aaafs	p.K20fs		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	20						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E23fs*9(3)|p.E23fs*46(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAAGATTATTCAAAAAAAAAGA	0.361																																																	4	Deletion - Frameshift(3)|Insertion - Frameshift(1)	large_intestine(2)|ovary(1)|lung(1)	17																																								54601953	SO:0001589	frameshift_variant	55771				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.66dupA	17.37:g.57247179_57247179dupA	ENSP00000262293:p.Lys20fs		54601952	Q9NUZ7|Q9NXE9	Frame_Shift_Ins	INS	ENST00000262293.4	37	CCDS11614.1																																																																																				0.361	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304	
CCDC47	57003	hgsc.bcm.edu	37	17	61829359	61829359	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:61829359delT	ENST00000225726.5	-	12	1694	c.1312delA	c.(1312-1314)agafs	p.R438fs	CCDC47_ENST00000403162.3_Frame_Shift_Del_p.R438fs|RP11-51F16.8_ENST00000580553.1_Frame_Shift_Del_p.K33fs|CCDC47_ENST00000582252.1_Frame_Shift_Del_p.R438fs	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	438					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TTCTCTGCTCTTTTTTTCTCC	0.458																																																	0			17											141.0	138.0	139.0					17																	61829359		2203	4300	6503	59183091	SO:0001589	frameshift_variant	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1312delA	17.37:g.61829359delT	ENSP00000225726:p.Arg438fs		59183091	B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Frame_Shift_Del	DEL	ENST00000225726.5	37	CCDS11643.1																																																																																				0.458	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198	
HEXDC	284004	hgsc.bcm.edu	37	17	80400298	80400298	+	3'UTR	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:80400298delG	ENST00000327949.9	+	0	1510				HEXDC_ENST00000577944.1_Frame_Shift_Del_p.L502fs|HEXDC_ENST00000337014.6_Frame_Shift_Del_p.G531fs			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing						carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGGAGGCTGGGGGGGCTCT	0.692																																																	0			17											27.0	32.0	31.0					17																	80400298		1871	4081	5952	77993587	SO:0001624	3_prime_UTR_variant	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.*38G>-	17.37:g.80400298delG			77993587	B7UUP6|Q8IYN4|Q8TE81	Frame_Shift_Del	DEL	ENST00000327949.9	37																																																																																					0.692	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620	
SMAD7	4092	hgsc.bcm.edu	37	18	46474795	46474795	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:46474795delG	ENST00000262158.2	-	2	912	c.626delC	c.(625-627)cctfs	p.P210fs	SMAD7_ENST00000591805.1_5'UTR|SMAD7_ENST00000589634.1_Frame_Shift_Del_p.P210fs	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	210	Important for interaction with SMURF2.|Poly-Pro.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GGAGTAAGGAGGGGGGGGAGA	0.388																																																	0			18											37.0	44.0	42.0					18																	46474795		2202	4299	6501	44728793	SO:0001589	frameshift_variant	4092			AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.626delC	18.37:g.46474795delG	ENSP00000262158:p.Pro210fs		44728793	B7Z773|K7EQ10|O14740|Q6DK23	Frame_Shift_Del	DEL	ENST00000262158.2	37	CCDS11936.1																																																																																				0.388	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904	
ALPK2	115701	hgsc.bcm.edu	37	18	56246440	56246440	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:56246440delT	ENST00000361673.3	-	4	1781	c.1568delA	c.(1567-1569)aagfs	p.K523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCATAAGTCCTTTCCCCCCAC	0.522											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			18											227.0	226.0	226.0					18																	56246440		2203	4300	6503	54397420	SO:0001589	frameshift_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1568delA	18.37:g.56246440delT	ENSP00000354991:p.Lys523fs	1014	54397420	Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Del	DEL	ENST00000361673.3	37	CCDS11966.2																																																																																				0.522	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
LMAN1	3998	hgsc.bcm.edu	37	18	57013194	57013194	+	Frame_Shift_Del	DEL	T	T	-	rs553350987		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:57013194delT	ENST00000251047.5	-	8	1629	c.912delA	c.(910-912)aaafs	p.K304fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	304					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGAATTCCTCTTTTTTTTTAT	0.453																																																	0			18											138.0	139.0	139.0					18																	57013194		2203	4300	6503	55164174	SO:0001589	frameshift_variant	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.912delA	18.37:g.57013194delT	ENSP00000251047:p.Lys304fs		55164174	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Del	DEL	ENST00000251047.5	37	CCDS11974.1																																																																																				0.453	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	
SERPINB10	5273	hgsc.bcm.edu	37	18	61584739	61584739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:61584739delA	ENST00000238508.3	+	3	277	c.218delA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	73					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTGAAAGTGAAAAAAAAAGG	0.284																																																	1	Deletion - Frameshift(1)	large_intestine(1)	18								39,129,4010		1,0,37,2,125,1924	26.0	26.0	26.0			5.3	1.0	18		27	67,232,7845		0,0,67,0,232,3773	no	codingComplex	SERPINB10	NM_005024.1		1,0,104,2,357,5697	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6714,4.0211,3.79			61584739	106,361,11855	2173	4255	6428	59735719	SO:0001589	frameshift_variant	5273			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.218delA	18.37:g.61584739delA	ENSP00000238508:p.Glu73fs		59735719	Q4VAX4|Q4VAX7	Frame_Shift_Del	DEL	ENST00000238508.3	37	CCDS11990.1																																																																																				0.284	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
RNF126	55658	hgsc.bcm.edu	37	19	648262	648263	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:648262_648263insG	ENST00000292363.5	-	9	956_957	c.801_802insC	c.(799-804)cccgtcfs	p.V268fs		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TTTCGGCAGACGGGGCAGCTGT	0.693																																																	0			19																																								599263	SO:0001589	frameshift_variant	55658			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.802dupC	19.37:g.648266_648266dupG	ENSP00000292363:p.Val268fs		599262		Frame_Shift_Ins	INS	ENST00000292363.5	37	CCDS12039.1																																																																																				0.693	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876	
SAFB2	9667	hgsc.bcm.edu	37	19	5587282	5587282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:5587282delG	ENST00000252542.4	-	21	3098	c.2834delC	c.(2833-2835)ccgfs	p.P945fs		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	945	Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P945fs*>9(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		gtgggggtacggggggggatg	0.657																																					Ovarian(127;888 1728 23957 44128 52668)												1	Deletion - Frameshift(1)	large_intestine(1)	19											21.0	21.0	21.0					19																	5587282		2201	4300	6501	5538282	SO:0001589	frameshift_variant	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2834delC	19.37:g.5587282delG	ENSP00000252542:p.Pro945fs		5538282	B4DKG3|Q8TB13	Frame_Shift_Del	DEL	ENST00000252542.4	37	CCDS32879.1																																																																																				0.657	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649	
PNPLA6	10908	hgsc.bcm.edu	37	19	7607647	7607648	+	Splice_Site	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:7607647_7607648insC	ENST00000221249.6	+	15	1677_1678	c.1246_1247insC	c.(1246-1248)acc>aCcc	p.T416fs	PNPLA6_ENST00000545201.2_Splice_Site_p.T416fs|PNPLA6_ENST00000450331.3_Splice_Site_p.T416fs|PNPLA6_ENST00000600737.1_Splice_Site_p.T455fs|PNPLA6_ENST00000414982.3_Splice_Site_p.T464fs	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	455					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCCCACTCAGACCCCCACTCAG	0.673																																																	0			19																																								7513648	SO:0001630	splice_region_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1246-1->C	19.37:g.7607652_7607652dupC			7513647	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Frame_Shift_Ins	INS	ENST00000221249.6	37	CCDS32891.1																																																																																				0.673	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	Frame_Shift_Ins
LRRC8E	80131	hgsc.bcm.edu	37	19	7964957	7964957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:7964957delT	ENST00000306708.6	+	3	1651	c.1550delT	c.(1549-1551)cttfs	p.L517fs	AC010336.1_ENST00000539278.1_Frame_Shift_Del_p.S104fs|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	517					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CTGGAGGGGCTTTTCCCCCAG	0.657																																																	0			19											23.0	21.0	21.0					19																	7964957		2201	4300	6501	7870957	SO:0001589	frameshift_variant	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1550delT	19.37:g.7964957delT	ENSP00000306524:p.Leu517fs		7870957	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Frame_Shift_Del	DEL	ENST00000306708.6	37	CCDS12189.1																																																																																				0.657	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061	
OR7E24	26648	hgsc.bcm.edu	37	19	9362217	9362217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:9362217delT	ENST00000456448.1	+	1	612	c.498delT	c.(496-498)tctfs	p.S166fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCTTGTTGTCTTTTTTTATTA	0.443																																																	0			19											121.0	135.0	130.0					19																	9362217		2149	4259	6408	9223217	SO:0001589	frameshift_variant	26648			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.498delT	19.37:g.9362217delT	ENSP00000387523:p.Ser166fs		9223217	B9EJD9|Q9UPJ1	Frame_Shift_Del	DEL	ENST00000456448.1	37	CCDS45955.1																																																																																				0.443	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1		
ICAM5	7087	hgsc.bcm.edu	37	19	10402955	10402955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:10402955delG	ENST00000221980.4	+	4	981	c.918delG	c.(916-918)ctgfs	p.L306fs		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	306	Ig-like C2-type 3.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ACGTCACCCTGGGGGGCGAAA	0.647																																																	0			19											26.0	21.0	23.0					19																	10402955		2202	4300	6502	10263955	SO:0001589	frameshift_variant	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.918delG	19.37:g.10402955delG	ENSP00000221980:p.Leu306fs		10263955	Q9Y6F3	Frame_Shift_Del	DEL	ENST00000221980.4	37	CCDS12233.1																																																																																				0.647	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259	
DOCK6	57572	hgsc.bcm.edu	37	19	11324971	11324971	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:11324971delG	ENST00000294618.7	-	34	4329	c.4318delC	c.(4318-4320)cagfs	p.Q1440fs	DOCK6_ENST00000319867.7_Frame_Shift_Del_p.Q779fs|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1440					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGGGCCCTCTGGGTGGCCAGG	0.572																																																	0			19											30.0	32.0	31.0					19																	11324971		1998	4159	6157	11185971	SO:0001589	frameshift_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4318delC	19.37:g.11324971delG	ENSP00000294618:p.Gln1440fs		11185971	A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	CCDS45975.1																																																																																				0.572	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812	
JUNB	3726	hgsc.bcm.edu	37	19	12902958	12902958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:12902958delG	ENST00000302754.4	+	1	649	c.373delG	c.(373-375)gggfs	p.G127fs		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	127					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						AGGGGGCGCAGGGGGCGGCGT	0.662																																																	0			19											8.0	9.0	9.0					19																	12902958		2109	4183	6292	12763958	SO:0001589	frameshift_variant	10535			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.373delG	19.37:g.12902958delG	ENSP00000303315:p.Gly127fs		12763958	Q96GH3	Frame_Shift_Del	DEL	ENST00000302754.4	37	CCDS12280.1																																																																																				0.662	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229	
CACNA1A	773	hgsc.bcm.edu	37	19	13414640	13414640	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:13414640delC	ENST00000360228.5	-	16	2044	c.2045delG	c.(2044-2046)ggcfs	p.G682fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.G683fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	683					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCCTGCACGCCCCCCTGAGA	0.557																																																	0			19											172.0	177.0	175.0					19																	13414640		2025	4179	6204	13275640	SO:0001589	frameshift_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2045delG	19.37:g.13414640delC	ENSP00000353362:p.Gly682fs		13275640	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Del	DEL	ENST00000360228.5	37	CCDS45998.1																																																																																				0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
MAST3	23031	hgsc.bcm.edu	37	19	18245760	18245760	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:18245760delC	ENST00000262811.6	+	16	1751	c.1751delC	c.(1750-1752)accfs	p.T584fs		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	584	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTTGGAGATACCCCCGAGGAA	0.627																																																	0			19											109.0	114.0	112.0					19																	18245760		2061	4207	6268	18106760	SO:0001589	frameshift_variant	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1751delC	19.37:g.18245760delC	ENSP00000262811:p.Thr584fs		18106760	Q7LDZ8|Q9UPI0	Frame_Shift_Del	DEL	ENST00000262811.6	37	CCDS46014.1																																																																																				0.627	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150	
KMT2B	9757	hgsc.bcm.edu	37	19	36221688	36221688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:36221688delG	ENST00000222270.7	+	26	5357	c.5357delG	c.(5356-5358)tggfs	p.W1786fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.W1786fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1786					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TATCGGCCATGGGGGCCGAGG	0.617																																																	0			19											41.0	48.0	46.0					19																	36221688		2052	4188	6240	40913528	SO:0001589	frameshift_variant	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5357delG	19.37:g.36221688delG	ENSP00000222270:p.Trp1786fs		40913528	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	CCDS46055.1																																																																																				0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
ZNF382	84911	hgsc.bcm.edu	37	19	37118175	37118176	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:37118175_37118176insG	ENST00000292928.2	+	5	1489_1490	c.1376_1377insG	c.(1375-1380)acggggfs	p.TG459fs	CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Frame_Shift_Ins_p.TG458fs|ZNF382_ENST00000423582.1_Frame_Shift_Ins_p.TG410fs|ZNF382_ENST00000439428.1_Frame_Shift_Ins_p.TG458fs	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	459	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T459T(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAATTCACACGGGGGAAAAAC	0.441																																																	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	19																																								41810016	SO:0001589	frameshift_variant	84911			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1381dupG	19.37:g.37118180_37118180dupG	ENSP00000292928:p.Thr459fs		41810015	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Frame_Shift_Ins	INS	ENST00000292928.2	37	CCDS33004.1																																																																																				0.441	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
SIPA1L3	23094	hgsc.bcm.edu	37	19	38609985	38609985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:38609985delC	ENST00000222345.6	+	9	2840	c.2331delC	c.(2329-2331)ggcfs	p.G777fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	777	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCTTTCGGCCCCCCCATCC	0.537																																																	0			19											66.0	74.0	71.0					19																	38609985		2203	4300	6503	43301825	SO:0001589	frameshift_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2331delC	19.37:g.38609985delC	ENSP00000222345:p.Gly777fs		43301825	Q2TV87	Frame_Shift_Del	DEL	ENST00000222345.6	37	CCDS33007.1																																																																																				0.537	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
HNRNPL	3191	hgsc.bcm.edu	37	19	39334512	39334512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:39334512delC	ENST00000221419.5	-	6	1216	c.850delG	c.(850-852)gacfs	p.D284fs	AC008982.2_ENST00000600473.1_RNA|HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.D151fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	284					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTTGTGTAGTCCCAAGTATCC	0.483																																																	0			19											172.0	142.0	152.0					19																	39334512		2203	4300	6503	44026352	SO:0001589	frameshift_variant	3191			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.850delG	19.37:g.39334512delC	ENSP00000221419:p.Asp284fs		44026352	A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Del	DEL	ENST00000221419.5	37	CCDS33015.1																																																																																				0.483	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		
PPP5C	5536	hgsc.bcm.edu	37	19	46850393	46850393	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:46850393delC	ENST00000012443.4	+	1	143	c.40delC	c.(40-42)cccfs	p.P15fs	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	15					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)	p.R16fs*7(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GTGTGCTGAGCCCCCCCGGGA	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Insertion - Frameshift(1)	ovary(1)	19											25.0	23.0	24.0					19																	46850393		2197	4298	6495	51542233	SO:0001589	frameshift_variant	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.40delC	19.37:g.46850393delC	ENSP00000012443:p.Pro15fs	942	51542233	Q16722|Q53XV2	Frame_Shift_Del	DEL	ENST00000012443.4	37	CCDS12684.1																																																																																				0.687	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247	
FUT2	2524	hgsc.bcm.edu	37	19	49206855	49206855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:49206855delG	ENST00000425340.2	+	2	759	c.642delG	c.(640-642)aagfs	p.K214fs	FUT2_ENST00000391876.4_Frame_Shift_Del_p.K214fs	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	214					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AAGTGTGGAAGGGGGTGGTGG	0.627																																																	0			19											67.0	70.0	69.0					19																	49206855		2203	4300	6503	53898667	SO:0001589	frameshift_variant	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.642delG	19.37:g.49206855delG	ENSP00000387498:p.Lys214fs		53898667	Q0VAG5|Q14338|Q5D0G2	Frame_Shift_Del	DEL	ENST00000425340.2	37	CCDS33069.1																																																																																				0.627	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511	
BAX	581	hgsc.bcm.edu	37	19	49458971	49458971	+	Frame_Shift_Del	DEL	G	G	-	rs141306106|rs398122842|rs398122841		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:49458971delG	ENST00000345358.7	+	3	166	c.114delG	c.(112-114)atgfs	p.M38fs	BAX_ENST00000391871.3_Frame_Shift_Del_p.W21fs|BAX_ENST00000415969.2_Frame_Shift_Del_p.M38fs|BAX_ENST00000293288.8_Frame_Shift_Del_p.M38fs|BAX_ENST00000354470.3_Intron|BAX_ENST00000539787.1_Frame_Shift_Del_p.M38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		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;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CAGGGCGAATGGGGGGGGAGG	0.592																																																	1	Deletion - Frameshift(1)	lung(1)	19											59.0	57.0	57.0					19																	49458971		2203	4300	6503	54150783	SO:0001589	frameshift_variant	581				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.114delG	19.37:g.49458971delG	ENSP00000263262:p.Met38fs		54150783	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Del	DEL	ENST00000345358.7	37	CCDS12742.1																																																																																				0.592	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763	
PRR12	57479	hgsc.bcm.edu	37	19	50098979	50098979	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:50098979delG	ENST00000418929.2	+	4	1399	c.1387delG	c.(1387-1389)gggfs	p.G464fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGGGTTTGGAGGGGGGCAGGC	0.701																																																	0			19											15.0	17.0	16.0					19																	50098979		1732	3926	5658	54790791	SO:0001589	frameshift_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1387delG	19.37:g.50098979delG	ENSP00000394510:p.Gly464fs		54790791	E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	CCDS46143.1																																																																																				0.701	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
SSC5D	284297	hgsc.bcm.edu	37	19	56001764	56001764	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:56001764delC	ENST00000389623.6	+	5	598	c.575delC	c.(574-576)gccfs	p.A192fs	SSC5D_ENST00000587166.1_Frame_Shift_Del_p.A192fs	NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	192					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						ACGACAGGAGCCCCCCGCCAA	0.711																																																	0			19											16.0	29.0	25.0					19																	56001764		692	1587	2279	60693576	SO:0001589	frameshift_variant	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.575delC	19.37:g.56001764delC	ENSP00000374274:p.Ala192fs		60693576	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Frame_Shift_Del	DEL	ENST00000389623.6	37	CCDS46196.1																																																																																				0.711	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
SSC5D	284297	hgsc.bcm.edu	37	19	56006054	56006054	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:56006054delC	ENST00000389623.6	+	8	1314	c.1291delC	c.(1291-1293)cccfs	p.P432fs	SSC5D_ENST00000587166.1_Frame_Shift_Del_p.P432fs	NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	432					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						TGCCTCCAGGCCCCCGTCCAC	0.677																																																	0			19											31.0	49.0	44.0					19																	56006054		692	1590	2282	60697866	SO:0001589	frameshift_variant	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.1291delC	19.37:g.56006054delC	ENSP00000374274:p.Pro432fs		60697866	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Frame_Shift_Del	DEL	ENST00000389623.6	37	CCDS46196.1																																																																																				0.677	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
DEFB126	81623	hgsc.bcm.edu	37	20	126311	126312	+	Frame_Shift_Del	DEL	CC	CC	-	rs376364807|rs11467417|rs386393058		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:126311_126312delCC	ENST00000382398.3	+	2	574_575	c.314_315delCC	c.(313-315)accfs	p.T105fs	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	105					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATGGCTCCTACCCCCGTTTCTC	0.455																																																	0			20								2386,1878		678,1030,424						-4.7	0.0		dbSNP_120	113	4702,3552		1341,2020,766	no	frameshift	DEFB126	NM_030931.2		2019,3050,1190	A1A1,A1R,RR		43.0337,44.0432,43.3775				7088,5430				74312	SO:0001589	frameshift_variant	81623				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.314_315delCC	20.37:g.126313_126314delCC	ENSP00000371835:p.Thr105fs		74311	Q562G3|Q9H1M5	Frame_Shift_Del	DEL	ENST00000382398.3	37	CCDS12990.1																																																																																				0.455	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931	
SOGA1	140710	hgsc.bcm.edu	37	20	35422784	35422784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:35422784delG	ENST00000357779.3	-	14	3313	c.2987delC	c.(2986-2988)ccafs	p.P996fs	SOGA1_ENST00000237536.4_Frame_Shift_Del_p.P1234fs|SOGA1_ENST00000456801.2_Frame_Shift_Del_p.P837fs|SOGA1_ENST00000279034.6_Frame_Shift_Del_p.P996fs			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	996					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTGCCTCCCTGGGGGGTCCTG	0.657																																																	0			20											17.0	19.0	18.0					20																	35422784		1939	4128	6067	34856198	SO:0001589	frameshift_variant	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2987delC	20.37:g.35422784delG	ENSP00000350424:p.Pro996fs		34856198	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Frame_Shift_Del	DEL	ENST00000357779.3	37																																																																																					0.657	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	
RALGAPB	57148	hgsc.bcm.edu	37	20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:37146233delC	ENST00000262879.6	+	8	1420	c.1136delC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.T157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Del_p.T379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCAGTACCACCCCCCCACAT	0.448																																																	1	Insertion - Frameshift(1)	lung(1)	20											134.0	123.0	126.0					20																	37146233		2203	4300	6503	36579647	SO:0001589	frameshift_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1136delC	20.37:g.37146233delC	ENSP00000262879:p.Thr379fs		36579647	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	ENST00000262879.6	37	CCDS13305.1																																																																																				0.448	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
PIGT	51604	hgsc.bcm.edu	37	20	44054454	44054454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:44054454delC	ENST00000279036.6	+	12	1805	c.1725delC	c.(1723-1725)gtcfs	p.V575fs	PIGT_ENST00000535404.1_Frame_Shift_Del_p.V420fs|PIGT_ENST00000545755.1_Frame_Shift_Del_p.V313fs|PIGT_ENST00000543458.2_Frame_Shift_Del_p.V519fs|PIGT_ENST00000341555.5_Frame_Shift_Del_p.V381fs|PIGT_ENST00000279035.9_Frame_Shift_Del_p.V473fs|PIGT_ENST00000372689.5_Frame_Shift_Del_p.V508fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	575					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCCGAGGTGTCCCCCCACTCT	0.627																																																	0			20											22.0	25.0	24.0					20																	44054454		2203	4300	6503	43487868	SO:0001589	frameshift_variant	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1725delC	20.37:g.44054454delC	ENSP00000279036:p.Val575fs		43487868	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Frame_Shift_Del	DEL	ENST00000279036.6	37	CCDS13353.1																																																																																				0.627	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937	
ZNF217	7764	hgsc.bcm.edu	37	20	52188288	52188288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:52188288delT	ENST00000371471.2	-	5	3567	c.3142delA	c.(3142-3144)actfs	p.T1048fs	ZNF217_ENST00000302342.3_Frame_Shift_Del_p.T1048fs|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	1048					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTGAATCAAGTTTTTTTGTCA	0.413																																																	0			20											179.0	166.0	170.0					20																	52188288		2202	4298	6500	51621695	SO:0001589	frameshift_variant	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.3142delA	20.37:g.52188288delT	ENSP00000360526:p.Thr1048fs		51621695	E1P5Y6|Q14DB8	Frame_Shift_Del	DEL	ENST00000371471.2	37	CCDS13443.1																																																																																				0.413	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
DIDO1	11083	hgsc.bcm.edu	37	20	61513713	61513713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:61513713delT	ENST00000266070.4	-	16	3920	c.3595delA	c.(3595-3597)atcfs	p.I1199fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.I1199fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1199					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGACGTTTGATTTTTTGGCAG	0.428																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0			20											90.0	97.0	94.0					20																	61513713		2203	4300	6503	60984158	SO:0001589	frameshift_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3595delA	20.37:g.61513713delT	ENSP00000266070:p.Ile1199fs		60984158	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	ENST00000266070.4	37	CCDS33506.1																																																																																				0.428	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
SCAF4	57466	hgsc.bcm.edu	37	21	33074655	33074655	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:33074655delT	ENST00000286835.7	-	5	741	c.359delA	c.(358-360)aatfs	p.N120fs	SCAF4_ENST00000399804.1_Frame_Shift_Del_p.N120fs|SCAF4_ENST00000434667.3_Frame_Shift_Del_p.N105fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	120	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAACACTCCATTTTTTTGCCA	0.353																																																	0			21											103.0	93.0	97.0					21																	33074655		2203	4300	6503	31996526	SO:0001589	frameshift_variant	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.359delA	21.37:g.33074655delT	ENSP00000286835:p.Asn120fs		31996526	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Frame_Shift_Del	DEL	ENST00000286835.7	37	CCDS33537.1																																																																																				0.353	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
SON	6651	hgsc.bcm.edu	37	21	34945711	34945713	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AAG	AAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:34945711_34945713delAAG	ENST00000356577.4	+	9	7458_7460	c.6983_6985delAAG	c.(6982-6987)aaagaa>aaa	p.E2329del	SON_ENST00000381692.2_In_Frame_Del_p.E357del|SON_ENST00000470533.1_3'UTR|SON_ENST00000290239.6_3'UTR	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2329	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGAAAAAACAAAGAAGGCAATAA	0.399																																																	0			21																																								33867583	SO:0001651	inframe_deletion	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6983_6985delAAG	21.37:g.34945714_34945716delAAG	ENSP00000348984:p.Glu2329del		33867581	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	In_Frame_Del	DEL	ENST00000356577.4	37	CCDS13629.1																																																																																				0.399	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
BACE2	25825	hgsc.bcm.edu	37	21	42540489	42540489	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:42540489delC	ENST00000330333.6	+	1	762	c.299delC	c.(298-300)accfs	p.T100fs	BACE2_ENST00000347667.5_Frame_Shift_Del_p.T100fs|MIR3197_ENST00000582241.1_RNA|BACE2_ENST00000328735.6_Frame_Shift_Del_p.T100fs	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	100					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTGATCGGGACCCCCCCGCAG	0.701																																																	0			21							,,	16,3952		1,14,1969	7.0	8.0	8.0		,,	2.8	0.8	21		8	52,7696		0,52,3822	no	frameshift,frameshift,frameshift	BACE2	NM_138992.1,NM_138991.1,NM_012105.3	,,	1,66,5791	A1A1,A1R,RR		0.6711,0.4032,0.5804	,,	,,	42540489	68,11648	2131	4151	6282	41462359	SO:0001589	frameshift_variant	25825			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.299delC	21.37:g.42540489delC	ENSP00000332979:p.Thr100fs		41462359	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Frame_Shift_Del	DEL	ENST00000330333.6	37	CCDS13668.1																																																																																				0.701	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1		
MICAL3	57553	hgsc.bcm.edu	37	22	18300932	18300932	+	Frame_Shift_Del	DEL	G	G	-	rs373213687		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:18300932delG	ENST00000441493.2	-	26	4847	c.4495delC	c.(4495-4497)cggfs	p.R1499fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1499	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCAGGCTCCCGGGGGGGCCGC	0.677																																																	0			22											14.0	14.0	14.0					22																	18300932		1874	4059	5933	16680932	SO:0001589	frameshift_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4495delC	22.37:g.18300932delG	ENSP00000416015:p.Arg1499fs		16680932	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	ENST00000441493.2	37	CCDS46659.1																																																																																				0.677	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		
ZDHHC8	29801	hgsc.bcm.edu	37	22	20130522	20130522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:20130522delC	ENST00000334554.7	+	10	1510	c.1369delC	c.(1369-1371)cccfs	p.P458fs	ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P366fs|ZDHHC8_ENST00000405930.3_Frame_Shift_Del_p.P458fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	458					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGAGGGGGGGCCCCCCACGCC	0.687																																																	0			22											15.0	18.0	17.0					22																	20130522		2172	4259	6431	18510522	SO:0001589	frameshift_variant	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1369delC	22.37:g.20130522delC	ENSP00000334490:p.Pro458fs		18510522	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Frame_Shift_Del	DEL	ENST00000334554.7	37	CCDS13776.1																																																																																				0.687	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373	
NEFH	4744	hgsc.bcm.edu	37	22	29885567	29885568	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs147489453|rs559153194|rs75808076|rs59279731		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:29885567_29885568insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1971_1972	c.1938_1939insAAGTCCCCTGAGAAGGCC	c.(1939-1941)aag>AAGTCCCCTGAGAAGGCCaag	p.647_647K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	653	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTGA	0.569																																																	0			22								2816,1448		937,942,253						-5.3	0.0		dbSNP_134	77	5046,3206		1537,1972,617	no	coding	NEFH	NM_021076.3		2474,2914,870	A1A1,A1R,RR		38.8512,33.9587,37.1844				7862,4654				28215568	SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1939_1956dupAAGTCCCCTGAGAAGGCC	22.37:g.29885567_29885568insAAGTCCCCTGAGAAGGCC	Exception_encountered		28215567	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
SMTN	6525	hgsc.bcm.edu	37	22	31485922	31485922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:31485922delC	ENST00000347557.2	+	7	927	c.709delC	c.(709-711)cccfs	p.P238fs	SMTN_ENST00000358743.1_Frame_Shift_Del_p.P238fs|SMTN_ENST00000333137.7_Frame_Shift_Del_p.P238fs	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	238	Pro-rich.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCAGAGCCACCCCCCAGCCC	0.652																																																	0			22											30.0	30.0	30.0					22																	31485922		2197	4298	6495	29815922	SO:0001589	frameshift_variant	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.709delC	22.37:g.31485922delC	ENSP00000328635:p.Pro238fs		29815922	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Frame_Shift_Del	DEL	ENST00000347557.2	37	CCDS13886.1																																																																																				0.652	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270	
ATF4	468	hgsc.bcm.edu	37	22	39918398	39918398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:39918398delA	ENST00000337304.2	+	2	1729	c.847delA	c.(847-849)aaafs	p.K284fs	ATF4_ENST00000404241.2_Frame_Shift_Del_p.K284fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.K284fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	284	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.			K -> R (in Ref. 5; no nucleotide entry). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TAAGAAGCTGAAAAAAATGGA	0.498																																																	0			22											20.0	22.0	21.0					22																	39918398		2198	4279	6477	38248344	SO:0001589	frameshift_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.847delA	22.37:g.39918398delA	ENSP00000336790:p.Lys284fs		38248344	Q9UH31	Frame_Shift_Del	DEL	ENST00000337304.2	37	CCDS13996.1																																																																																				0.498	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675	
EP300	2033	hgsc.bcm.edu	37	22	41574679	41574679	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:41574679delC	ENST00000263253.7	+	31	8183	c.6964delC	c.(6964-6966)cccfs	p.P2323fs	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2323					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACAGTCCCAGCCCCCCCACTC	0.612			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22											87.0	91.0	90.0					22																	41574679		2203	4300	6503	39904625	SO:0001589	frameshift_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6964delC	22.37:g.41574679delC	ENSP00000263253:p.Pro2323fs		39904625	B1AKC2	Frame_Shift_Del	DEL	ENST00000263253.7	37	CCDS14010.1																																																																																				0.612	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
PNPLA5	150379	hgsc.bcm.edu	37	22	44285694	44285694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:44285694delG	ENST00000597664.1	-	3	606	c.477delC	c.(475-477)cccfs	p.P159fs	PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000216177.4_Frame_Shift_Del_p.P159fs|PNPLA5_ENST00000593866.1_Intron			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	159	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.E160fs*47(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTCTGAACTCGGGGGGGATCA	0.572																																																	1	Insertion - Frameshift(1)	ovary(1)	22																																								42617027	SO:0001589	frameshift_variant	150379			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.477delC	22.37:g.44285694delG	ENSP00000471069:p.Pro159fs		42617027	B1AHL8|B3KPR1|Q6ZST0	Frame_Shift_Del	DEL	ENST00000597664.1	37																																																																																					0.572	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814	
PPP6R2	9701	hgsc.bcm.edu	37	22	50879410	50879410	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:50879410delC	ENST00000216061.5	+	23	2925	c.2555delC	c.(2554-2556)gccfs	p.A852fs	PPP6R2_ENST00000359139.3_Frame_Shift_Del_p.A819fs|PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.A818fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.A819fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	852						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GGCCGGGAGGCCCCCCCGCTG	0.721																																																	0			22											16.0	19.0	18.0					22																	50879410		2198	4294	6492	49226276	SO:0001589	frameshift_variant	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2555delC	22.37:g.50879410delC	ENSP00000216061:p.Ala852fs		49226276	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Del	DEL	ENST00000216061.5	37																																																																																					0.721	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678	
DMD	1756	hgsc.bcm.edu	37	X	32361293	32361293	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:32361293delT	ENST00000357033.4	-	40	5903	c.5697delA	c.(5695-5697)aaafs	p.K1899fs	DMD_ENST00000378677.2_Frame_Shift_Del_p.K1895fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1899	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGCTGGCTAATTTTTTTTCAA	0.358																																																	0			X	GRCh37	CD050845	DMD	D							101.0	93.0	96.0					X																	32361293		2202	4300	6502	32271214	SO:0001589	frameshift_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5697delA	X.37:g.32361293delT	ENSP00000354923:p.Lys1899fs		32271214	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	ENST00000357033.4	37	CCDS14233.1																																																																																				0.358	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
MAGED4	728239	hgsc.bcm.edu	37	X	51930908	51930909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:51930908_51930909insC	ENST00000375626.3	+	4	1270_1271	c.1215_1216insC	c.(1216-1218)cccfs	p.P406fs	SNORA11D_ENST00000408548.1_RNA|MAGED4_ENST00000479281.1_3'UTR|MAGED4_ENST00000416960.1_Frame_Shift_Ins_p.P406fs	NM_001098800.1	NP_001092270.1	Q96JG8	MAGD4_HUMAN	melanoma antigen family D, 4	406												Ovarian(276;0.236)					TACTGTGCCTGCCCCCCCGCAA	0.653																																																	0			X																																								51947649	SO:0001589	frameshift_variant	728239			AF320908	CCDS48116.1, CCDS65261.1	Xp11	2009-06-03			ENSG00000154545	ENSG00000154545			23793	protein-coding gene	gene with protein product		300702				11406556	Standard	NM_001272061		Approved	MAGE1, MGC3210, KIAA1859, MAGE-E1	uc004dpr.4	Q96JG8	OTTHUMG00000042235	ENST00000375626.3:c.1222dupC	X.37:g.51930915_51930915dupC	ENSP00000364777:p.Pro406fs		51947648	A8K093|Q5HYN6|Q8WXW4|Q9BQ84|Q9BVH1|Q9BYH3|Q9BYH4|Q9H217	Frame_Shift_Ins	INS	ENST00000375626.3	37	CCDS48116.1																																																																																				0.653	MAGED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100439.1	NM_001098800	
IL2RG	3561	hgsc.bcm.edu	37	X	70327614	70327614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:70327614delG	ENST00000374202.2	-	8	1173	c.1082delC	c.(1081-1083)ccafs	p.P361fs	CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000374188.3_Frame_Shift_Del_p.P90fs|IL2RG_ENST00000456850.2_Frame_Shift_Del_p.P171fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGTGTAACATGGGGGGGCCCA	0.582									Severe Combined Immunodeficiency, X-linked																																								0			X											34.0	34.0	34.0					X																	70327614		2203	4293	6496	70244339	SO:0001589	frameshift_variant	3561	Familial Cancer Database	Agammaglobulinemia, Swiss Type	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1082delC	X.37:g.70327614delG	ENSP00000363318:p.Pro361fs		70244339	Q5FC12	Frame_Shift_Del	DEL	ENST00000374202.2	37	CCDS14406.1																																																																																				0.582	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2		
KLHL4	56062	hgsc.bcm.edu	37	X	86877231	86877231	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:86877231delA	ENST00000373119.4	+	5	1090	c.945delA	c.(943-945)atafs	p.I315fs	KLHL4_ENST00000373114.4_Frame_Shift_Del_p.I315fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	315						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTGAGGTAATAAAAAACCAAG	0.333																																																	0			X											65.0	57.0	60.0					X																	86877231		2203	4300	6503	86763887	SO:0001589	frameshift_variant	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.945delA	X.37:g.86877231delA	ENSP00000362211:p.Ile315fs		86763887	B2RTW2|Q9Y3J5	Frame_Shift_Del	DEL	ENST00000373119.4	37	CCDS14457.1																																																																																				0.333	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
PCDH19	57526	hgsc.bcm.edu	37	X	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)ccgfs	p.P364fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607																																																	1	Deletion - Frameshift(1)	large_intestine(1)	X											43.0	47.0	46.0					X																	99662505		2188	4265	6453	99549161	SO:0001589	frameshift_variant	57575			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1091delC	X.37:g.99662505delG	ENSP00000362125:p.Pro364fs		99549161	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	ENST00000373034.4	37	CCDS55462.1																																																																																				0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
TENM1	10178	hgsc.bcm.edu	37	X	123870951	123870951	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:123870951delG	ENST00000371130.3	-	4	695	c.632delC	c.(631-633)cctfs	p.P211fs	TENM1_ENST00000422452.2_Frame_Shift_Del_p.P211fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	211	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTCCGCTGCAGGGGGTGGCTT	0.622																																																	0			X											75.0	75.0	75.0					X																	123870951		2203	4300	6503	123698632	SO:0001589	frameshift_variant	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.632delC	X.37:g.123870951delG	ENSP00000360171:p.Pro211fs		123698632	B2RTR5|Q5JZ17	Frame_Shift_Del	DEL	ENST00000371130.3	37	CCDS14609.1																																																																																				0.622	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
BCORL1	63035	hgsc.bcm.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:129190011delC	ENST00000218147.7	+	13	5233	c.5036delC	c.(5035-5037)tccfs	p.S1679fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.S1549fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.S1679fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.S1753fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1679					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACGACAGATCCCCCCCAGGC	0.602																																																	0			X																																								129017692	SO:0001589	frameshift_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5036delC	X.37:g.129190011delC	ENSP00000218147:p.Ser1679fs		129017692	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	CCDS14616.1																																																																																				0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
SLITRK2	84631	hgsc.bcm.edu	37	X	144904118	144904118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:144904118delC	ENST00000370490.1	+	1	4430	c.175delC	c.(175-177)cccfs	p.P60fs	SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.P60fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.P60fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.P60fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.P60fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	60					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTCCAGCCCCCCCAGTA	0.428																																																	0			X											94.0	84.0	87.0					X																	144904118		2203	4300	6503	144711810	SO:0001589	frameshift_variant	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.175delC	X.37:g.144904118delC	ENSP00000359521:p.Pro60fs		144711810	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Del	DEL	ENST00000370490.1	37	CCDS14680.1																																																																																				0.428	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
CDY2B	203611	hgsc.bcm.edu	37	Y	19990849	19990850	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrY:19990849_19990850insT	ENST00000382867.3	-	1	1250_1251	c.923_924insA	c.(922-924)aatfs	p.N308fs	CDY2B_ENST00000544303.1_Frame_Shift_Ins_p.N308fs	NM_001001722.1	NP_001001722.1	Q9Y6F7	CDY2_HUMAN	chromodomain protein, Y-linked, 2B	308					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)										TATTCAGTGCATTTTTTTCTGT	0.416																																																	0			Y																																								18500244	SO:0001589	frameshift_variant	203611			BC069087	CCDS35473.1	Yq11.222	2010-05-12			ENSG00000129873	ENSG00000129873			23921	protein-coding gene	gene with protein product						9381176, 10192397	Standard	NM_001001722		Approved	CDY		Q9Y6F7	OTTHUMG00000041652	ENST00000382867.3:c.924dupA	Y.37:g.19990856_19990856dupT	ENSP00000372319:p.Asn308fs		18500243	A8K868	Frame_Shift_Ins	INS	ENST00000382867.3	37	CCDS35473.1																																																																																				0.416	CDY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099653.1	NM_001001722	
CDY2A	9426	hgsc.bcm.edu	37	Y	20138910	20138911	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrY:20138910_20138911insA	ENST00000250838.4	+	1	1244_1245	c.916_917insA	c.(916-918)gaafs	p.E306fs	CDY2A_ENST00000426790.1_Frame_Shift_Ins_p.E306fs	NM_004825.2	NP_004816.1	Q9Y6F7	CDY2_HUMAN	chromodomain protein, Y-linked, 2A	306					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)			breast(1)	1						TAGATCGACAGAAAAAAATGCA	0.421																																																	0			Y																																								18648305	SO:0001589	frameshift_variant	203611			AF080598	CCDS14789.1	Yq11.222	2010-05-12	2005-12-16	2005-12-16	ENSG00000182415	ENSG00000182415			1810	protein-coding gene	gene with protein product		400018	"""chromodomain protein, Y chromosome, 2"", ""chromodomain protein, Y-linked, 2"""	CDY2		10192397	Standard	NM_004825		Approved		uc004ftl.1	Q9Y6F7	OTTHUMG00000041657	ENST00000250838.4:c.923dupA	Y.37:g.20138917_20138917dupA	ENSP00000250838:p.Glu306fs		18648304	A8K868	Frame_Shift_Ins	INS	ENST00000250838.4	37	CCDS14789.1																																																																																				0.421	CDY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099658.1	NM_004825	
NADK	65220	hgsc.bcm.edu	37	1	1688567	1688568	+	Intron	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:1688567_1688568insC	ENST00000341426.5	-	4	615				NADK_ENST00000378625.1_Frame_Shift_Ins_p.A253fs|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000344463.4_Frame_Shift_Ins_p.A253fs|NADK_ENST00000492768.1_Intron	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GTGGATGGAGGCCCCCCCAACT	0.663																																																	0			1																																								1678428	SO:0001627	intron_variant	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.393+51->G	1.37:g.1688574_1688574dupC			1678427	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Frame_Shift_Ins	INS	ENST00000341426.5	37	CCDS30565.1																																																																																				0.663	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018	
RPL22	6146	hgsc.bcm.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																			Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)	1											62.0	55.0	57.0					1																	6257785		2203	4300	6503	6180372	SO:0001589	frameshift_variant	6146			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs		6180372	B2R495|Q6IBD1	Frame_Shift_Del	DEL	ENST00000234875.4	37	CCDS58.1																																																																																				0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983	
TCEB3	6924	hgsc.bcm.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:24078404delA	ENST00000418390.2	+	4	1658	c.1387delA	c.(1387-1389)aaafs	p.K464fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.K438fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	464					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.N439fs*19(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TAAAGGACTTAAAAAAAATGA	0.413											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Deletion - Frameshift(1)	large_intestine(1)	1											70.0	83.0	79.0					1																	24078404		2195	4299	6494	23950991	SO:0001589	frameshift_variant	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1387delA	1.37:g.24078404delA	ENSP00000395574:p.Lys464fs	768	23950991	B2R7Q8|Q8IXH1	Frame_Shift_Del	DEL	ENST00000418390.2	37	CCDS239.2																																																																																				0.413	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198	
WDTC1	23038	hgsc.bcm.edu	37	1	27621107	27621108	+	Frame_Shift_Ins	INS	-	-	G	rs145339479		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:27621107_27621108insG	ENST00000319394.3	+	9	1395_1396	c.860_861insG	c.(859-864)atggggfs	p.MG287fs	WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.MG287fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	287					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.54																																																	0			1								21,4245		0,21,2112						5.7	1.0			69	14,8240		0,14,4113	no	frameshift	WDTC1	NM_015023.3		0,35,6225	A1A1,A1R,RR		0.1696,0.4923,0.2796				35,12485				27493695	SO:0001589	frameshift_variant	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.868dupG	1.37:g.27621115_27621115dupG	ENSP00000317971:p.Met287fs		27493694	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Frame_Shift_Ins	INS	ENST00000319394.3	37																																																																																					0.540	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023	
KHDRBS1	10657	hgsc.bcm.edu	37	1	32503459	32503459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:32503459delG	ENST00000327300.7	+	6	1096	c.929delG	c.(928-930)cggfs	p.R310fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.R271fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGACCACCTCGGGGGGCTTTG	0.502																																					Ovarian(173;401 1982 12359 31110 42403)												0			1											90.0	100.0	97.0					1																	32503459		2203	4300	6503	32276046	SO:0001589	frameshift_variant	10657			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.929delG	1.37:g.32503459delG	ENSP00000313829:p.Arg310fs		32276046		Frame_Shift_Del	DEL	ENST00000327300.7	37	CCDS350.1																																																																																				0.502	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559	
KIAA0319L	79932	hgsc.bcm.edu	37	1	35972480	35972480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:35972480delT	ENST00000325722.3	-	3	633	c.399delA	c.(397-399)aaafs	p.K133fs		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	133						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGTTTGGAATTTTTTTAAAA	0.512																																																	0			1											72.0	81.0	78.0					1																	35972480		2203	4300	6503	35745067	SO:0001589	frameshift_variant	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.399delA	1.37:g.35972480delT	ENSP00000318406:p.Lys133fs		35745067	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Frame_Shift_Del	DEL	ENST00000325722.3	37	CCDS390.1																																																																																				0.512	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874	
NRD1	4898	hgsc.bcm.edu	37	1	52344009	52344009	+	Frame_Shift_Del	DEL	C	C	-	rs143307071	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:52344009delC	ENST00000354831.7	-	1	468	c.279delG	c.(277-279)gggfs	p.G93fs	NRD1_ENST00000539524.1_5'Flank|NRD1_ENST00000352171.7_Frame_Shift_Del_p.G93fs|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	93					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TACTGAGAGACCCCCTCCGTC	0.612																																																	0			1											70.0	72.0	72.0					1																	52344009		2203	4300	6503	52116597	SO:0001589	frameshift_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.279delG	1.37:g.52344009delC	ENSP00000346890:p.Gly93fs		52116597	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	CCDS559.1																																																																																				0.612	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
JAK1	3716	hgsc.bcm.edu	37	1	65306997	65306997	+	Frame_Shift_Del	DEL	T	T	-	rs202179869		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:65306997delT	ENST00000342505.4	-	19	2828	c.2580delA	c.(2578-2580)aaafs	p.K860fs	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	860					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAGTTGCTGGTTTTTTTTCTG	0.468			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0			1											93.0	93.0	93.0					1																	65306997		1870	4100	5970	65079585	SO:0001589	frameshift_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2580delA	1.37:g.65306997delT	ENSP00000343204:p.Lys860fs		65079585	Q59GQ2|Q9UD26	Frame_Shift_Del	DEL	ENST00000342505.4	37	CCDS41346.1																																																																																				0.468	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
JAK1	3716	hgsc.bcm.edu	37	1	65325833	65325833	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:65325833delG	ENST00000342505.4	-	9	1537	c.1289delC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GACGATCAACGGGGGGGCCAC	0.542			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0			1											95.0	99.0	98.0					1																	65325833		2012	4160	6172	65098421	SO:0001589	frameshift_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1289delC	1.37:g.65325833delG	ENSP00000343204:p.Pro430fs		65098421	Q59GQ2|Q9UD26	Frame_Shift_Del	DEL	ENST00000342505.4	37	CCDS41346.1																																																																																				0.542	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
LEPR	3953	hgsc.bcm.edu	37	1	66102459	66102460	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:66102459_66102460insAG	ENST00000349533.6	+	20	3444_3445	c.3259_3260insAG	c.(3259-3261)aagfs	p.K1087fs	LEPR_ENST00000406510.3_Frame_Shift_Ins_p.K154fs	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTCAATCAAAAAGAGAGAGAGT	0.421																																																	0			1																																								65875048	SO:0001589	frameshift_variant	54741			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3268_3269dupAG	1.37:g.66102468_66102469dupAG	ENSP00000330393:p.Lys1087fs		65875047	Q6FHL5	Frame_Shift_Ins	INS	ENST00000349533.6	37	CCDS631.1																																																																																				0.421	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
RPE65	6121	hgsc.bcm.edu	37	1	68903931	68903931	+	Frame_Shift_Del	DEL	T	T	-	rs281865520		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:68903931delT	ENST00000262340.5	-	10	1120	c.1067delA	c.(1066-1068)aatfs	p.N356fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	356					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTTTCTGGCATTTTTTTTCAC	0.348																																																	0			1	GRCh37	CD972436	RPE65	D							98.0	100.0	99.0					1																	68903931		2203	4300	6503	68676519	SO:0001589	frameshift_variant	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1067delA	1.37:g.68903931delT	ENSP00000262340:p.Asn356fs		68676519	A8K1L0|Q5T9U3	Frame_Shift_Del	DEL	ENST00000262340.5	37	CCDS643.1																																																																																				0.348	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
TYW3	127253	hgsc.bcm.edu	37	1	75218076	75218076	+	Frame_Shift_Del	DEL	A	A	-	rs200408383		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:75218076delA	ENST00000370867.3	+	5	616	c.527delA	c.(526-528)caafs	p.Q176fs	TYW3_ENST00000479111.1_Frame_Shift_Del_p.Q56fs|TYW3_ENST00000457880.2_Frame_Shift_Del_p.Q143fs|TYW3_ENST00000421739.2_Frame_Shift_Del_p.Q92fs	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	176					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GTGGCAAATCAAAAAATGGAG	0.348																																																	0			1											82.0	88.0	86.0					1																	75218076		2203	4300	6503	74990664	SO:0001589	frameshift_variant	127253			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.527delA	1.37:g.75218076delA	ENSP00000359904:p.Gln176fs		74990664	B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Frame_Shift_Del	DEL	ENST00000370867.3	37	CCDS666.1																																																																																				0.348	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467	
ODF2L	57489	hgsc.bcm.edu	37	1	86826142	86826142	+	Frame_Shift_Del	DEL	T	T	-	rs372782838		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:86826142delT	ENST00000359242.3	-	12	1502	c.1221delA	c.(1219-1221)aaafs	p.K407fs	ODF2L_ENST00000394731.1_Frame_Shift_Del_p.K247fs|ODF2L_ENST00000294678.2_Frame_Shift_Del_p.K378fs|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000370566.3_Frame_Shift_Del_p.K378fs|ODF2L_ENST00000370567.1_Frame_Shift_Del_p.K378fs|ODF2L_ENST00000317336.7_Frame_Shift_Del_p.K407fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	407						centrosome (GO:0005813)		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GGGTTTTCTGTTTTTTTTCTA	0.289																																																	2	Deletion - Frameshift(2)	lung(2)	1											87.0	92.0	90.0					1																	86826142		2202	4293	6495	86598730	SO:0001589	frameshift_variant	57489				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1221delA	1.37:g.86826142delT	ENSP00000359600:p.Lys407fs		86598730	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Frame_Shift_Del	DEL	ENST00000359242.3	37	CCDS41354.2																																																																																				0.289	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
EPHX4	253152	hgsc.bcm.edu	37	1	92511122	92511122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:92511122delG	ENST00000370383.4	+	4	607	c.509delG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GGCCATGACTGGGGGGGCATG	0.388																																					GBM(140;473 1857 5172 22066 49719)												0			1											213.0	184.0	194.0					1																	92511122		2203	4300	6503	92283710	SO:0001589	frameshift_variant	253152			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.509delG	1.37:g.92511122delG	ENSP00000359410:p.Trp170fs		92283710	Q8NCC6	Frame_Shift_Del	DEL	ENST00000370383.4	37	CCDS736.1																																																																																				0.388	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567	
CEPT1	10390	hgsc.bcm.edu	37	1	111703836	111703836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:111703836delT	ENST00000545121.1	+	4	755	c.547delT	c.(547-549)tttfs	p.F184fs	CEPT1_ENST00000357172.4_Frame_Shift_Del_p.F184fs	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	184					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.C185fs*26(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TGATTGGATGTTTTTTTGTTG	0.383																																																	1	Deletion - Frameshift(1)	large_intestine(1)	1											234.0	234.0	234.0					1																	111703836		2203	4300	6503	111505359	SO:0001589	frameshift_variant	10390			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.547delT	1.37:g.111703836delT	ENSP00000441980:p.Phe184fs		111505359	Q69YJ9|Q9P0Y8	Frame_Shift_Del	DEL	ENST00000545121.1	37	CCDS830.1																																																																																				0.383	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090	
PHTF1	10745	hgsc.bcm.edu	37	1	114248545	114248546	+	Frame_Shift_Ins	INS	-	-	A	rs201254988		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:114248545_114248546insA	ENST00000369604.1	-	13	2120_2121	c.1637_1638insT	c.(1636-1638)ttcfs	p.F546fs	PHTF1_ENST00000369600.1_Frame_Shift_Ins_p.F493fs|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000393357.2_Frame_Shift_Ins_p.F546fs|PHTF1_ENST00000357783.2_Frame_Shift_Ins_p.F546fs|PHTF1_ENST00000369596.2_Frame_Shift_Ins_p.F493fs|PHTF1_ENST00000369598.1_Frame_Shift_Ins_p.F501fs			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	546					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACATCATGAAAAAAAACAT	0.327																																																	0			1																																								114050069	SO:0001589	frameshift_variant	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1638dupT	1.37:g.114248553_114248553dupA	ENSP00000358617:p.Phe546fs		114050068	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Frame_Shift_Ins	INS	ENST00000369604.1	37	CCDS861.1																																																																																				0.327	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608	
NGF	4803	hgsc.bcm.edu	37	1	115828721	115828722	+	Frame_Shift_Del	DEL	CA	CA	-	rs142696332		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CA	CA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:115828721_115828722delCA	ENST00000369512.2	-	3	863_864	c.695_696delTG	c.(694-696)gtgfs	p.V232fs	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	232					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCTGAGCACACACACACA	0.579																																																	0			1																																								115630245	SO:0001589	frameshift_variant	4803				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.695_696delTG	1.37:g.115828731_115828732delCA	ENSP00000358525:p.Val232fs		115630244	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Frame_Shift_Del	DEL	ENST00000369512.2	37	CCDS882.1																																																																																				0.579	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506	
HIST2H2AB	317772	hgsc.bcm.edu	37	1	149859099	149859100	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CT	CT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:149859099_149859100delCT	ENST00000331128.3	-	1	366_367	c.367_368delAG	c.(367-369)agtfs	p.S123fs	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	123						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGGCTTGTGACTCTCCGTTTTC	0.505																																																	0			1																																								148125724	SO:0001589	frameshift_variant	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.367_368delAG	1.37:g.149859101_149859102delCT	ENSP00000332790:p.Ser123fs		148125723		Frame_Shift_Del	DEL	ENST00000331128.3	37	CCDS938.1																																																																																				0.505	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065	
MTMR11	10903	hgsc.bcm.edu	37	1	149908497	149908498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:149908497_149908498insG	ENST00000439741.2	-	1	293_294	c.43_44insC	c.(43-45)cagfs	p.Q15fs	MTMR11_ENST00000369140.3_5'Flank|MTMR11_ENST00000361405.6_Frame_Shift_Ins_p.Q15fs|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	15							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ctcctccttctGGGGGGCAATG	0.579																																																	0			1																																								148175122	SO:0001589	frameshift_variant	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.44dupC	1.37:g.149908503_149908503dupG	ENSP00000391668:p.Gln15fs		148175121	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Frame_Shift_Ins	INS	ENST00000439741.2	37	CCDS53360.1																																																																																				0.579	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873	
INSRR	3645	hgsc.bcm.edu	37	1	156815041	156815041	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:156815041delC	ENST00000368195.3	-	12	2660	c.2264delG	c.(2263-2265)ggcfs	p.G755fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	755					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGAGCTGTTGCCCCCCAGCCG	0.687																																																	0			1											17.0	19.0	18.0					1																	156815041		2200	4295	6495	155081665	SO:0001589	frameshift_variant	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2264delG	1.37:g.156815041delC	ENSP00000357178:p.Gly755fs		155081665	O60724|Q5VZS3	Frame_Shift_Del	DEL	ENST00000368195.3	37	CCDS1160.1																																																																																				0.687	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
OR6P1	128366	hgsc.bcm.edu	37	1	158533298	158533299	+	Frame_Shift_Ins	INS	-	-	AA	rs201077183		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:158533298_158533299insAA	ENST00000334632.1	-	1	95_96	c.96_97insTT	c.(94-99)tttgcafs	p.A33fs		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|lung(1)	6						AGGTAAATTGCAAAAAAAAGGA	0.47																																																	0			1																																								156799923	SO:0001589	frameshift_variant	128366			BK004193	CCDS53391.1	1q23.1	2012-08-09			ENSG00000186440	ENSG00000186440		"""GPCR / Class A : Olfactory receptors"""	15036	protein-coding gene	gene with protein product							Standard	NM_001160325		Approved		uc010pim.2	Q8NGX9	OTTHUMG00000019633	ENST00000334632.1:c.95_96dupTT	1.37:g.158533305_158533306dupAA	ENSP00000334721:p.Ala33fs		156799922	Q6IFR9	Frame_Shift_Ins	INS	ENST00000334632.1	37	CCDS53391.1																																																																																				0.470	OR6P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051848.1		
OR10Z1	128368	hgsc.bcm.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(259-261)gggfs	p.G87fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	87						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554																																																	0			1																																								156843111	SO:0001589	frameshift_variant	128368			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.265dupG	1.37:g.158576493_158576493dupG	ENSP00000354707:p.Gly87fs		156843110	Q5VYL0|Q6IFR7	Frame_Shift_Ins	INS	ENST00000361284.1	37	CCDS30901.1																																																																																				0.554	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
OR10Z1	128368	hgsc.bcm.edu	37	1	158576757	158576757	+	Frame_Shift_Del	DEL	T	T	-	rs201551156		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:158576757delT	ENST00000361284.1	+	1	529	c.529delT	c.(529-531)tttfs	p.F178fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	178						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AATCCAGCACTTTTTTTGTGA	0.493																																																	0			1								1,4261		0,1,2130	114.0	103.0	107.0			3.5	1.0	1		107	0,8252		0,0,4126	no	frameshift	OR10Z1	NM_001004478.1		0,1,6256	A1A1,A1R,RR		0.0,0.0235,0.0080			158576757	1,12513	2203	4300	6503	156843381	SO:0001589	frameshift_variant	128368			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.529delT	1.37:g.158576757delT	ENSP00000354707:p.Phe178fs		156843381	Q5VYL0|Q6IFR7	Frame_Shift_Del	DEL	ENST00000361284.1	37	CCDS30901.1																																																																																				0.493	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
LGR6	59352	hgsc.bcm.edu	37	1	202287206	202287206	+	Frame_Shift_Del	DEL	T	T	-	rs788795|rs113146160	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:202287206delT	ENST00000367278.3	+	18	1864	c.1775delT	c.(1774-1776)gtcfs	p.V592fs	LGR6_ENST00000255432.7_Frame_Shift_Del_p.V540fs|LGR6_ENST00000439764.2_Frame_Shift_Del_p.V453fs	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	592			V -> A (in dbSNP:rs788795). {ECO:0000269|PubMed:12975309, ECO:0000269|Ref.5}.		G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCGGGCCTGTCCCCCTGCCC	0.622																																																	0			1											87.0	75.0	79.0					1																	202287206		2203	4300	6503	200553829	SO:0001589	frameshift_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1775delT	1.37:g.202287206delT	ENSP00000356247:p.Val592fs		200553829	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Frame_Shift_Del	DEL	ENST00000367278.3	37	CCDS30971.1																																																																																				0.622	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	
KLHL12	59349	hgsc.bcm.edu	37	1	202880212	202880212	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:202880212delG	ENST00000367261.3	-	5	905	c.687delC	c.(685-687)cccfs	p.P229fs	KLHL12_ENST00000435533.3_Frame_Shift_Del_p.P267fs|KLHL12_ENST00000367259.1_5'Flank	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	229	BACK.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGATATACCTGGGGGTTAGTA	0.453																																																	0			1											153.0	149.0	150.0					1																	202880212		2203	4300	6503	201146835	SO:0001589	frameshift_variant	59349			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.687delC	1.37:g.202880212delG	ENSP00000356230:p.Pro229fs		201146835	A6NEN8|B7Z7B8|Q9HBX5	Frame_Shift_Del	DEL	ENST00000367261.3	37	CCDS1429.1																																																																																				0.453	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633	
PIK3C2B	5287	hgsc.bcm.edu	37	1	204419065	204419065	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:204419065delG	ENST00000367187.3	-	14	2703	c.2147delC	c.(2146-2148)ccafs	p.P717fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.P717fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	717	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCTCCCCGGTGGGGGGATGGG	0.617																																																	0			1											25.0	28.0	27.0					1																	204419065		2203	4300	6503	202685688	SO:0001589	frameshift_variant	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2147delC	1.37:g.204419065delG	ENSP00000356155:p.Pro717fs		202685688	O95666|Q5SW99	Frame_Shift_Del	DEL	ENST00000367187.3	37	CCDS1446.1																																																																																				0.617	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
PROX1	5629	hgsc.bcm.edu	37	1	214178556	214178556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:214178556delT	ENST00000366958.4	+	3	2382	c.1774delT	c.(1774-1776)tttfs	p.F593fs	PROX1_ENST00000261454.4_Frame_Shift_Del_p.F593fs|PROX1_ENST00000498508.2_Frame_Shift_Del_p.F593fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.F593fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	593					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAAGCTCATGTTTTTTTATAC	0.383																																																	0			1											120.0	120.0	120.0					1																	214178556		2203	4300	6503	212245179	SO:0001589	frameshift_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1774delT	1.37:g.214178556delT	ENSP00000355925:p.Phe593fs		212245179	A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Del	DEL	ENST00000366958.4	37	CCDS31021.1																																																																																				0.383	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763	
PCNXL2	80003	hgsc.bcm.edu	37	1	233344392	233344393	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:233344392_233344393insA	ENST00000258229.9	-	13	2968_2969	c.2734_2735insT	c.(2734-2736)tgtfs	p.C912fs	PCNXL2_ENST00000430153.1_Frame_Shift_Ins_p.C211fs|PCNXL2_ENST00000488780.2_Frame_Shift_Ins_p.C45fs	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	912						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACACAGCACACAAAAATAGATT	0.406																																																	0			1																																								231411016	SO:0001589	frameshift_variant	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2735dupT	1.37:g.233344397_233344397dupA	ENSP00000258229:p.Cys912fs		231411015	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Frame_Shift_Ins	INS	ENST00000258229.9	37	CCDS44335.1																																																																																				0.406	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
ARID4B	51742	hgsc.bcm.edu	37	1	235345419	235345419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:235345419delT	ENST00000264183.3	-	20	3312	c.2815delA	c.(2815-2817)acgfs	p.T939fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.T853fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.T939fs|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	939					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTTCAGCGTTTTTTTAGGC	0.473																																																	0			1											62.0	66.0	65.0					1																	235345419		2203	4300	6503	233412042	SO:0001589	frameshift_variant	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2815delA	1.37:g.235345419delT	ENSP00000264183:p.Thr939fs		233412042	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	CCDS31061.1																																																																																				0.473	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	
CEP170	9859	hgsc.bcm.edu	37	1	243388560	243388560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr1:243388560delA	ENST00000366542.1	-	2	74	c.23delT	c.(22-24)ttgfs	p.L8fs	CEP170_ENST00000366544.1_Frame_Shift_Del_p.L8fs|CEP170_ENST00000366543.1_Frame_Shift_Del_p.L8fs|AC092782.1_ENST00000596590.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	8						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ACTGCTCACCAAAAACCAGGA	0.428																																																	0			1											54.0	55.0	55.0					1																	243388560		1937	4149	6086	241455183	SO:0001589	frameshift_variant	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.23delT	1.37:g.243388560delA	ENSP00000355500:p.Leu8fs		241455183	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Frame_Shift_Del	DEL	ENST00000366542.1	37	CCDS44339.1																																																																																				0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
TPO	7173	hgsc.bcm.edu	37	2	1507747	1507748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:1507747_1507748insC	ENST00000345913.4	+	14	2505_2506	c.2414_2415insC	c.(2413-2418)caccccfs	p.HP805fs	TPO_ENST00000337415.3_Frame_Shift_Ins_p.HP805fs|TPO_ENST00000382201.3_Frame_Shift_Ins_p.HP748fs|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Frame_Shift_Ins_p.HP805fs|TPO_ENST00000346956.3_Intron|TPO_ENST00000349624.3_Frame_Shift_Ins_p.HP632fs|TPO_ENST00000382198.1_Frame_Shift_Ins_p.HP632fs	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	805	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.H805L(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACGGTGCCCACCCCCCCTGCC	0.644																																																	1	Substitution - Missense(1)	ovary(1)	2																																								1486755	SO:0001589	frameshift_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2421dupC	2.37:g.1507754_1507754dupC	ENSP00000318820:p.His805fs		1486754	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Frame_Shift_Ins	INS	ENST00000345913.4	37	CCDS1643.1																																																																																				0.644	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
SMC6	79677	hgsc.bcm.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343																																																	0			2											82.0	78.0	80.0					2																	17898126		2203	4297	6500	17761607	SO:0001589	frameshift_variant	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1228delA	2.37:g.17898126delT	ENSP00000404092:p.Ile410fs		17761607	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	37	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624	
ATRAID	51374	hgsc.bcm.edu	37	2	27440847	27440848	+	IGR	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:27440847_27440848insC	ENST00000606999.1	+	0	956				CAD_ENST00000403525.1_Frame_Shift_Ins_p.IP62fs|CAD_ENST00000264705.4_Frame_Shift_Ins_p.IP62fs	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											AACTATGGCATCCCCCCAGATG	0.495																																																	0			2																																								27294352	SO:0001628	intergenic_variant	1677			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405		2.37:g.27440853_27440853dupC			27294351	A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Frame_Shift_Ins	INS	ENST00000606999.1	37																																																																																					0.495	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085	
ZFP36L2	678	hgsc.bcm.edu	37	2	43452581	43452582	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:43452581_43452582insC	ENST00000282388.3	-	2	654_655	c.361_362insG	c.(361-363)gacfs	p.D121fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	121					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				AAACGAGCGGTCCCGGAATTTG	0.688																																																	0			2																																								43306086	SO:0001589	frameshift_variant	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.362dupG	2.37:g.43452584_43452584dupC	ENSP00000282388:p.Asp121fs		43306085	Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	CCDS1811.1																																																																																				0.688	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887	
VRK2	7444	hgsc.bcm.edu	37	2	58373509	58373509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:58373509delA	ENST00000435505.2	+	15	1827	c.1082delA	c.(1081-1083)gaafs	p.E361fs	VRK2_ENST00000440705.2_Frame_Shift_Del_p.E338fs|VRK2_ENST00000412104.2_Frame_Shift_Del_p.E361fs|VRK2_ENST00000340157.4_Frame_Shift_Del_p.E361fs|VRK2_ENST00000417641.2_Frame_Shift_Del_p.E361fs			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	361					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AGGTTAATCGAAAAAAAAGTC	0.383																																																	0			2											142.0	148.0	146.0					2																	58373509		2203	4300	6503	58227013	SO:0001589	frameshift_variant	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1082delA	2.37:g.58373509delA	ENSP00000408002:p.Glu361fs		58227013	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Frame_Shift_Del	DEL	ENST00000435505.2	37	CCDS1859.1																																																																																				0.383	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296	
FBXO48	554251	hgsc.bcm.edu	37	2	68691402	68691403	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:68691402_68691403insT	ENST00000377957.3	-	4	813_814	c.406_407insA	c.(406-408)atcfs	p.I136fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	136										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TGGGTACATGATTTTTTCTGGT	0.401																																																	0			2																																								68544907	SO:0001589	frameshift_variant	554251			BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.407dupA	2.37:g.68691408_68691408dupT	ENSP00000367193:p.Ile136fs		68544906		Frame_Shift_Ins	INS	ENST00000377957.3	37	CCDS33213.1																																																																																				0.401	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680	
WBP1	23559	hgsc.bcm.edu	37	2	74687410	74687410	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:74687410delC	ENST00000233615.2	+	4	686	c.412delC	c.(412-414)cccfs	p.P140fs	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Frame_Shift_Del_p.P174fs|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000409737.1_Frame_Shift_Del_p.P137fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	140							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						AGGCACACCACCCCCCCCTTA	0.582																																																	0			2								36,3,4227		0,0,36,1,1,2095	76.0	84.0	81.0			-8.0	0.5	2		82	22,2,8230		0,0,22,0,2,4103	no	codingComplex	WBP1	NM_012477.3		0,0,58,1,3,6198	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.9142,0.5032			74687410	58,5,12457	2203	4300	6503	74540918	SO:0001589	frameshift_variant	23559			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.412delC	2.37:g.74687410delC	ENSP00000233615:p.Pro140fs		74540918	B2RE02|O95637	Frame_Shift_Del	DEL	ENST00000233615.2	37	CCDS1943.1																																																																																				0.582	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477	
DQX1	165545	hgsc.bcm.edu	37	2	74755993	74755993	+	5'Flank	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:74755993delC	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|AUP1_ENST00000377526.3_Frame_Shift_Del_p.E137fs|HTRA2_ENST00000258080.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCCACCAACTCCCCCCGCCCA	0.577																																																	0			2											44.0	46.0	45.0					2																	74755993		1884	4111	5995	74609501	SO:0001631	upstream_gene_variant	550			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74755993delC	Exception_encountered		74609501	Q6B017|Q8NAM8	Frame_Shift_Del	DEL	ENST00000404568.3	37	CCDS1949.2																																																																																				0.577	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
MRPS5	64969	hgsc.bcm.edu	37	2	95753233	95753233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:95753233delG	ENST00000272418.2	-	12	1370	c.1162delC	c.(1162-1164)cggfs	p.R388fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	388					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AAGGGCCCCCGGGGGGACGCA	0.557																																																	0			2											74.0	69.0	71.0					2																	95753233		2203	4300	6503	95116960	SO:0001589	frameshift_variant	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1162delC	2.37:g.95753233delG	ENSP00000272418:p.Arg388fs		95116960	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Frame_Shift_Del	DEL	ENST00000272418.2	37	CCDS2010.1																																																																																				0.557	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902	
FAHD2A	51011	hgsc.bcm.edu	37	2	96078466	96078466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:96078466delC	ENST00000233379.4	+	7	989	c.836delC	c.(835-837)accfs	p.T279fs	FAHD2A_ENST00000447036.1_Frame_Shift_Del_p.T279fs	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	279							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CTAACTGGGACCCCCCCAGGT	0.562																																																	0			2											43.0	43.0	43.0					2																	96078466		2203	4298	6501	95442193	SO:0001589	frameshift_variant	51011			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.836delC	2.37:g.96078466delC	ENSP00000233379:p.Thr279fs		95442193	Q9Y3B0	Frame_Shift_Del	DEL	ENST00000233379.4	37	CCDS2014.1																																																																																				0.562	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044	
KANSL3	55683	hgsc.bcm.edu	37	2	97274706	97274708	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CTT	CTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:97274706_97274708delCTT	ENST00000431828.1	-	13	1553_1555	c.1477_1479delAAG	c.(1477-1479)aagdel	p.K493del	KANSL3_ENST00000440133.1_In_Frame_Del_p.K287del|KANSL3_ENST00000441706.2_In_Frame_Del_p.K406del|KANSL3_ENST00000599854.1_In_Frame_Del_p.K406del|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	493					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CATCGCGGGGCTTCTTCTTCTTC	0.601																																																	0			2																																								96638435	SO:0001651	inframe_deletion	55683			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1477_1479delAAG	2.37:g.97274715_97274717delCTT	ENSP00000396749:p.Lys493del		96638433	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	In_Frame_Del	DEL	ENST00000431828.1	37	CCDS46361.1																																																																																				0.601	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	
GCC2	9648	hgsc.bcm.edu	37	2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:109087884delA	ENST00000309863.6	+	6	2813	c.2099delA	c.(2098-2100)gaafs	p.E700fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CTCAGTTCAGAAAAAAAACAG	0.308																																																	0			2											114.0	144.0	134.0					2																	109087884		2203	4297	6500	108454316	SO:0001589	frameshift_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2099delA	2.37:g.109087884delA	ENSP00000307939:p.Glu700fs		108454316	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	ENST00000309863.6	37	CCDS33268.1																																																																																				0.308	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
TMEM87B	84910	hgsc.bcm.edu	37	2	112839024	112839024	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:112839024delT	ENST00000283206.4	+	8	1136	c.767delT	c.(766-768)attfs	p.I256fs		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	256						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GCAGCTGTTATTTTTTTGGGA	0.343																																																	0			2											131.0	142.0	138.0					2																	112839024		2203	4300	6503	112555495	SO:0001589	frameshift_variant	84910			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.767delT	2.37:g.112839024delT	ENSP00000283206:p.Ile256fs		112555495	A8K2M9|Q1RLN2|Q53R54	Frame_Shift_Del	DEL	ENST00000283206.4	37	CCDS33275.1																																																																																				0.343	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824	
GPR17	2840	hgsc.bcm.edu	37	2	128409270	128409270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:128409270delC	ENST00000272644.3	+	3	1119	c.1045delC	c.(1045-1047)cccfs	p.P350fs	LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000544369.1_Frame_Shift_Del_p.P350fs|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000393018.3_Frame_Shift_Del_p.P350fs|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000486700.1_3'UTR	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	350					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CAAGGGCCCGCCCCCCAGCTT	0.617																																																	0			2											57.0	70.0	66.0					2																	128409270		2203	4299	6502	128125740	SO:0001589	frameshift_variant	2840				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.1045delC	2.37:g.128409270delC	ENSP00000272644:p.Pro350fs		128125740	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Frame_Shift_Del	DEL	ENST00000272644.3	37	CCDS2148.1																																																																																				0.617	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1		
POTEF	728378	hgsc.bcm.edu	37	2	130872806	130872806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:130872806delT	ENST00000409914.2	-	4	1016	c.617delA	c.(616-618)aagfs	p.K206fs	POTEF_ENST00000361163.4_Frame_Shift_Del_p.K206fs|POTEF_ENST00000357462.5_Frame_Shift_Del_p.K206fs|POTEF_ENST00000360967.5_Frame_Shift_Del_p.K206fs	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	206					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K206R(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCTGTCCTCTTTTTGTTGTC	0.403																																																	2	Substitution - Missense(2)	lung(2)	2											12.0	14.0	13.0					2																	130872806		1993	3901	5894	130589276	SO:0001589	frameshift_variant	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.617delA	2.37:g.130872806delT	ENSP00000386786:p.Lys206fs		130589276	A6NC34	Frame_Shift_Del	DEL	ENST00000409914.2	37	CCDS46409.1																																																																																				0.403	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
ACVR2A	92	hgsc.bcm.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:148683686delA	ENST00000241416.7	+	10	1939	c.1303delA	c.(1303-1305)aaafs	p.K437fs	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.K329fs|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.K437fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTTGTGCATAAAAAAAAGAG	0.368																																																	3	Deletion - Frameshift(3)	large_intestine(2)|ovary(1)	2											156.0	129.0	138.0					2																	148683686		2203	4299	6502	148400156	SO:0001589	frameshift_variant	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1303delA	2.37:g.148683686delA	ENSP00000241416:p.Lys437fs		148400156	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Del	DEL	ENST00000241416.7	37	CCDS33301.1																																																																																				0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
UPP2	151531	hgsc.bcm.edu	37	2	158980303	158980303	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:158980303delA	ENST00000005756.4	+	6	901	c.707delA	c.(706-708)gaafs	p.E236fs	UPP2_ENST00000605860.1_Frame_Shift_Del_p.E293fs|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Frame_Shift_Del_p.E293fs	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	236					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	TTTTCCAGAGAAAAAAAGTTA	0.468																																																	0			2											93.0	92.0	93.0					2																	158980303		2203	4300	6503	158688549	SO:0001589	frameshift_variant	151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.707delA	2.37:g.158980303delA	ENSP00000005756:p.Glu236fs		158688549	B3KV87	Frame_Shift_Del	DEL	ENST00000005756.4	37	CCDS2207.1																																																																																				0.468	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355	
FIGN	55137	hgsc.bcm.edu	37	2	164468132	164468132	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:164468132delT	ENST00000333129.3	-	3	524	c.210delA	c.(208-210)aaafs	p.K70fs	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	70					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCTCTGCATATTTTTTTAGTA	0.483																																																	0			2											140.0	133.0	135.0					2																	164468132		1908	4131	6039	164176378	SO:0001589	frameshift_variant	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.210delA	2.37:g.164468132delT	ENSP00000333836:p.Lys70fs		164176378	B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Del	DEL	ENST00000333129.3	37	CCDS2221.2																																																																																				0.483	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
KLHL41	10324	hgsc.bcm.edu	37	2	170374733	170374734	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:170374733_170374734insA	ENST00000284669.1	+	4	1487_1488	c.1410_1411insA	c.(1411-1413)aaafs	p.K471fs	KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Frame_Shift_Ins_p.K409fs|RP11-724O16.1_ENST00000513963.1_Frame_Shift_Ins_p.K409fs	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	471					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)											TCTTCAACCCCAAAAAAGGAGA	0.376																																																	0			2																																								170082980	SO:0001589	frameshift_variant	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.1416dupA	2.37:g.170374739_170374739dupA	ENSP00000284669:p.Lys471fs		170082979	Q53R42	Frame_Shift_Ins	INS	ENST00000284669.1	37	CCDS2234.1																																																																																				0.376	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063	
RBM45	129831	hgsc.bcm.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aaafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353																																																	3	Deletion - Frameshift(2)|Unknown(1)	large_intestine(2)|skin(1)	2								3,107,4156		0,0,3,40,27,2063	69.0	75.0	73.0			4.7	1.0	2		75	6,163,8085		0,0,6,55,53,4013	no	codingComplex	RBM45	NM_152945.2		0,0,9,95,80,6076	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0475,2.5785,2.2284			178988920	9,270,12241	2203	4300	6503	178697166	SO:0001589	frameshift_variant	129831			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1135delA	2.37:g.178988920delA	ENSP00000286070:p.Lys381fs		178697166	Q6NYL0|Q8NFC9	Frame_Shift_Del	DEL	ENST00000286070.5	37	CCDS33335.1																																																																																				0.353	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945	
DNAH7	56171	hgsc.bcm.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				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						ATCGCTAATATTTTTTTTTAC	0.418																																																	0			2											103.0	95.0	97.0					2																	196788374		1906	4139	6045	196496619	SO:0001589	frameshift_variant	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.3770delA	2.37:g.196788374delT	ENSP00000311273:p.Asn1257fs		196496619	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	CCDS42794.1																																																																																				0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
CASP8	841	hgsc.bcm.edu	37	2	202139625	202139626	+	Frame_Shift_Ins	INS	-	-	G	rs577264458		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:202139625_202139626insG	ENST00000432109.2	+	7	798_799	c.609_610insG	c.(610-612)gggfs	p.G204fs	CASP8_ENST00000392258.3_Intron|CASP8_ENST00000264275.5_Frame_Shift_Ins_p.G221fs|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000358485.4_Frame_Shift_Ins_p.G263fs|CASP8_ENST00000323492.7_Frame_Shift_Ins_p.G189fs	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	204					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGAGTTGTGTGGGGTAATGAC	0.411										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0			2																																								201847871	SO:0001589	frameshift_variant	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.613dupG	2.37:g.202139629_202139629dupG	ENSP00000412523:p.Gly204fs		201847870	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Ins	INS	ENST00000432109.2	37	CCDS2342.1																																																																																				0.411	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	
CCDC108	255101	hgsc.bcm.edu	37	2	219903670	219903672	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AGG	AGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:219903670_219903672delAGG	ENST00000341552.5	-	3	182_184	c.99_101delCCT	c.(97-102)ctccta>cta	p.33_34LL>L	CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000441968.1_In_Frame_Del_p.33_34LL>L|CCDC108_ENST00000409865.3_Intron|CCDC108_ENST00000453220.1_In_Frame_Del_p.33_34LL>L|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000324264.6_5'UTR	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	33						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGCCTCTTAGGAGAAGAGGAA	0.458																																																	0			2																																								219611916	SO:0001651	inframe_deletion	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.99_101delCCT	2.37:g.219903670_219903672delAGG	ENSP00000340776:p.Leu34del		219611914	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	In_Frame_Del	DEL	ENST00000341552.5	37	CCDS2430.2																																																																																				0.458	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
NYAP2	57624	hgsc.bcm.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																																	0			2																																								226155316	SO:0001589	frameshift_variant	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs		226155315	A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr2:231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENST00000452881.1	+	1	193_219	c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	c.(85-111)cagcagcctagccctgaatccacaccadel	p.QQPSPESTP47del	AC105344.2_ENST00000414876.1_lincRNA|SPATA3_ENST00000424440.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	47			Missing.							endometrium(2)|lung(1)	3						TTCCACCTCTCAGCAGCCTAGCCCTGAATCCACACCACAGCAGCCTA	0.564																																																	0			2								924,1842		222,480,681						-8.0	0.0		dbSNP_130	187	2754,2350		871,1012,669	no	coding	SPATA3	NM_139073.3		1093,1492,1350	A1A1,A1R,RR		46.0423,33.4056,46.7344				3678,4192				231569303	SO:0001651	inframe_deletion	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.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	2.37:g.231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENSP00000388895:p.Gln47_Pro55del		231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				0.564	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
ULK4	54986	hgsc.bcm.edu	37	3	41860985	41860985	+	Frame_Shift_Del	DEL	T	T	-	rs76318575		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:41860985delT	ENST00000301831.4	-	19	2240	c.1778delA	c.(1777-1779)aagfs	p.K593fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	593					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTAGGGTTCTTTTTTTTTTC	0.448																																																	1	Deletion - Frameshift(1)	ovary(1)	3											62.0	63.0	63.0					3																	41860985		1844	4089	5933	41835989	SO:0001589	frameshift_variant	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1778delA	3.37:g.41860985delT	ENSP00000301831:p.Lys593fs		41835989	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Del	DEL	ENST00000301831.4	37	CCDS43071.1																																																																																				0.448	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
NKTR	4820	hgsc.bcm.edu	37	3	42679036	42679036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:42679036delC	ENST00000232978.8	+	13	2028	c.1840delC	c.(1840-1842)cccfs	p.P616fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	616					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGTGACAGTCCCCCCCCTTC	0.423																																																	0			3											110.0	121.0	117.0					3																	42679036		2203	4300	6503	42654040	SO:0001589	frameshift_variant	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1840delC	3.37:g.42679036delC	ENSP00000232978:p.Pro616fs		42654040		Frame_Shift_Del	DEL	ENST00000232978.8	37	CCDS2702.1																																																																																				0.423	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385	
QRICH1	54870	hgsc.bcm.edu	37	3	49065922	49065922	+	IGR	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:49065922delG	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Frame_Shift_Del_p.P64fs	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							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)		GGAAACCAGTGGGGTCTTAAG	0.542																																																	0			3											72.0	72.0	72.0					3																	49065922		2203	4300	6503	49040926	SO:0001628	intergenic_variant	3615				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		3.37:g.49065922delG			49040926	Q4G0F7|Q7L621|Q8TEA5	Frame_Shift_Del	DEL	ENST00000395443.2	37	CCDS2787.1																																																																																				0.542	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
RBM5	10181	hgsc.bcm.edu	37	3	50155888	50155889	+	Stop_Codon_Del	DEL	GA	GA	-	rs112672304		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:50155888_50155889delGA	ENST00000347869.3	+	0	2622_2623				RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.*816fs?(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGATGgagtgagagagagaga	0.535																																																	1	Deletion - Frameshift(1)	breast(1)	3																																								50130893	SO:0001567	stop_retained_variant	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	Exception_encountered	3.37:g.50155898_50155899delGA			50130892	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Frame_Shift_Del	DEL	ENST00000347869.3	37	CCDS2810.1																																																																																				0.535	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778	
CCDC66	285331	hgsc.bcm.edu	37	3	56598018	56598018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:56598018delA	ENST00000394672.3	+	4	479	c.409delA	c.(409-411)aaafs	p.K138fs	CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000436465.2_Frame_Shift_Del_p.K138fs|CCDC66_ENST00000538560.1_Frame_Shift_Del_p.K138fs|CCDC66_ENST00000326595.7_Frame_Shift_Del_p.K104fs	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	138					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAGCCTCACAAAAAACACAT	0.388																																																	0			3											100.0	88.0	92.0					3																	56598018		2203	4300	6503	56573058	SO:0001589	frameshift_variant	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.409delA	3.37:g.56598018delA	ENSP00000378167:p.Lys138fs		56573058	B3KWL8|Q4VC34|Q8N949	Frame_Shift_Del	DEL	ENST00000394672.3	37	CCDS46852.1																																																																																				0.388	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506	
APPL1	26060	hgsc.bcm.edu	37	3	57276921	57276921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:57276921delA	ENST00000288266.3	+	7	600	c.453delA	c.(451-453)tcafs	p.S151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCGTTTATCAAAAAAAAGAG	0.299																																																	1	Deletion - Frameshift(1)	large_intestine(1)	3											125.0	119.0	121.0					3																	57276921		2202	4300	6502	57251961	SO:0001589	frameshift_variant	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.453delA	3.37:g.57276921delA	ENSP00000288266:p.Ser151fs		57251961	Q9P2B9	Frame_Shift_Del	DEL	ENST00000288266.3	37	CCDS2882.1																																																																																				0.299	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	
MAGI1	9223	hgsc.bcm.edu	37	3	65422910	65422912	+	In_Frame_Del	DEL	TCT	TCT	-	rs144417292		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	TCT	TCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:65422910_65422912delTCT	ENST00000497477.2	-	10	1280_1282	c.1281_1283delAGA	c.(1279-1284)gaagat>gat	p.E427del	MAGI1_ENST00000402939.2_In_Frame_Del_p.E427del|MAGI1_ENST00000330909.8_In_Frame_Del_p.E427del|MAGI1_ENST00000483466.1_In_Frame_Del_p.E427del|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	427					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGCTGAGTGATCTTCTGTCCATT	0.389																																																	0			3																																								65397952	SO:0001651	inframe_deletion	154043			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1281_1283delAGA	3.37:g.65422913_65422915delTCT	ENSP00000424369:p.Glu427del		65397950	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	In_Frame_Del	DEL	ENST00000497477.2	37																																																																																					0.389	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
ZNF717	100131827	hgsc.bcm.edu	37	3	75786315	75786323	+	In_Frame_Del	DEL	CTACATTCT	CTACATTCT	-	rs146447046|rs202196860		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CTACATTCT	CTACATTCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:75786315_75786323delCTACATTCT	ENST00000478296.1	-	4	2577_2585	c.2301_2309delAGAATGTAG	c.(2299-2310)aaagaatgtagg>aag	p.ECR768del	ZNF717_ENST00000422325.1_In_Frame_Del_p.ECR818del|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_In_Frame_Del_p.ECR811del|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000477374.1_Intron			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	
OR5H2	79310	hgsc.bcm.edu	37	3	98002008	98002008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:98002008delA	ENST00000355273.2	+	1	277	c.277delA	c.(277-279)aaafs	p.K93fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTCTTGGCCAAAAACAGGAT	0.373																																																	0			3											163.0	160.0	161.0					3																	98002008		2203	4300	6503	99484698	SO:0001589	frameshift_variant	79310				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.277delA	3.37:g.98002008delA	ENSP00000347418:p.Lys93fs		99484698	Q6IF87	Frame_Shift_Del	DEL	ENST00000355273.2	37	CCDS33801.1																																																																																				0.373	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		
UPK1B	7348	hgsc.bcm.edu	37	3	118917947	118917947	+	Frame_Shift_Del	DEL	G	G	-	rs368682621		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:118917947delG	ENST00000264234.3	+	7	841	c.692delG	c.(691-693)tggfs	p.W231fs	UPK1B_ENST00000497685.1_Frame_Shift_Del_p.W151fs|UPK1B_ENST00000460625.1_Frame_Shift_Del_p.W223fs	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	231					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CGACACGCCTGGGGGGTTGCC	0.483																																																	0			3											112.0	107.0	109.0					3																	118917947		2203	4300	6503	120400637	SO:0001589	frameshift_variant	7348			AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.692delG	3.37:g.118917947delG	ENSP00000264234:p.Trp231fs		120400637	O60753|Q9UIM2|Q9UNX6	Frame_Shift_Del	DEL	ENST00000264234.3	37	CCDS2985.1																																																																																				0.483	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2		
SLC35G2	80723	hgsc.bcm.edu	37	3	136573486	136573486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:136573486delA	ENST00000446465.2	+	2	812	c.184delA	c.(184-186)aaafs	p.K64fs	RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.K64fs|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GAGTGAAATGAAAAAAAAAGG	0.413																																																	0			3											88.0	99.0	95.0					3																	136573486		2203	4300	6503	138056176	SO:0001589	frameshift_variant	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.184delA	3.37:g.136573486delA	ENSP00000400839:p.Lys64fs		138056176		Frame_Shift_Del	DEL	ENST00000446465.2	37	CCDS3091.1																																																																																				0.413	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246	
EIF2A	83939	hgsc.bcm.edu	37	3	150299509	150299510	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:150299509_150299510insA	ENST00000460851.1	+	12	1711_1712	c.1602_1603insA	c.(1603-1605)aaafs	p.K535fs	EIF2A_ENST00000273435.5_Frame_Shift_Ins_p.K530fs|EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000406576.3_Frame_Shift_Ins_p.K474fs|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000383043.3_Frame_Shift_Ins_p.K321fs|EIF2A_ENST00000487799.1_Frame_Shift_Ins_p.K510fs			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	535					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGAGATAGACAAAAAAATCAA	0.406																																																	0			3																																								151782200	SO:0001589	frameshift_variant	83939			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1609dupA	3.37:g.150299516_150299516dupA	ENSP00000417229:p.Lys535fs		151782199	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Frame_Shift_Ins	INS	ENST00000460851.1	37	CCDS46935.1																																																																																				0.406	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025	
DHX36	170506	hgsc.bcm.edu	37	3	153998375	153998375	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:153998375delT	ENST00000496811.1	-	22	2640	c.2560delA	c.(2560-2562)agafs	p.R854fs	DHX36_ENST00000308361.6_Frame_Shift_Del_p.R825fs|DHX36_ENST00000329463.5_Frame_Shift_Del_p.R840fs|DHX36_ENST00000544526.1_Frame_Shift_Del_p.R840fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	854					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACATTTTTCTTTTTTTACCC	0.294																																																	0			3											73.0	77.0	75.0					3																	153998375		2201	4296	6497	155481069	SO:0001589	frameshift_variant	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2560delA	3.37:g.153998375delT	ENSP00000417078:p.Arg854fs		155481069	B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Del	DEL	ENST00000496811.1	37	CCDS3171.1																																																																																				0.294	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
TNIK	23043	hgsc.bcm.edu	37	3	170781745	170781745	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:170781745delA	ENST00000436636.2	-	33	4352	c.4008delT	c.(4006-4008)tttfs	p.F1336fs	TNIK_ENST00000475336.1_Frame_Shift_Del_p.F1244fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.F1288fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.F1307fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.F1328fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.F1273fs|TNIK_ENST00000464785.1_5'UTR|TNIK_ENST00000470834.1_Frame_Shift_Del_p.F1299fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.F1281fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.F1314fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.F1252fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1336					actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCACGGATGCAAAAAATACCT	0.403																																																	0			3											92.0	88.0	89.0					3																	170781745		1857	4099	5956	172264439	SO:0001589	frameshift_variant	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.4008delT	3.37:g.170781745delA	ENSP00000399511:p.Phe1336fs		172264439	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	ENST00000436636.2	37	CCDS46956.1																																																																																				0.403	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
MUC4	4585	hgsc.bcm.edu	37	3	195514998	195515045	+	In_Frame_Del	DEL	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	-	rs200518052|rs538504516|rs199975352|rs200763050|rs552771790|rs570974278|rs368837663|rs201206859|rs199883835|rs78683709|rs201451131|rs76196931	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr3:195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENST00000463781.3	-	2	3865_3912	c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	c.(3406-3453)tctcttcctgtcaccgacacttcctcagtatccacaggtcacaccaccdel	p.SLPVTDTSSVSTGHTT1136del	MUC4_ENST00000475231.1_In_Frame_Del_p.SLPVTDTSSVSTGHTT1136del|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	603					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T1142S(3)|p.V1145A(2)|p.P1138L(1)|p.H1149H(1)|p.T1142T(1)|p.T1150A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGA	0.569																																																	9	Substitution - Missense(7)|Substitution - coding silent(2)	endometrium(4)|stomach(2)|skin(2)|kidney(1)	3							,,	1034,2304		279,476,914					,,	-1.1	0.0			8	2849,3303		990,869,1217	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	1269,1345,2131	A1A1,A1R,RR		46.3101,30.9766,40.9168	,,	,,		3883,5607				196999440	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	3.37:g.195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENSP00000417498:p.Ser1136_Thr1151del		196999393	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.569	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENST00000324803.4	+	1	3255_3283	c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	c.(295-324)cacgtgcccatgtggagtgcccgcctgctcfs	p.HVPMWSARLL99fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACACGTGCCCATGTGGAGTGCCCGCCTGCTCACGTGCCCA	0.655																																																	1	Substitution - Missense(1)	pancreas(1)	4																																								1378622	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	4.37:g.1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENSP00000323978:p.His99fs		1378594	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				0.655	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
PROM1	8842	hgsc.bcm.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																																	0			4											189.0	187.0	188.0					4																	15995680		1901	4120	6021	15604778	SO:0001589	frameshift_variant	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs		15604778	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	
GABRG1	2565	hgsc.bcm.edu	37	4	46060366	46060366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:46060366delT	ENST00000295452.4	-	7	951	c.784delA	c.(784-786)attfs	p.I262fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	262					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAAAAAAAATTGTCATGATA	0.289																																																	0			4											92.0	97.0	95.0					4																	46060366		2203	4300	6503	45755123	SO:0001589	frameshift_variant	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.784delA	4.37:g.46060366delT	ENSP00000295452:p.Ile262fs		45755123	Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	CCDS3470.1																																																																																				0.289	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
CLOCK	9575	hgsc.bcm.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																																	2	Deletion - Frameshift(2)	ovary(1)|lung(1)	4											88.0	93.0	92.0					4																	56336954		2201	4298	6499	56031711	SO:0001589	frameshift_variant	9575			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs		56031711	A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	ENST00000309964.4	37	CCDS3500.1																																																																																				0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
AFM	173	hgsc.bcm.edu	37	4	74347520	74347521	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:74347520_74347521insT	ENST00000226355.3	+	1	121_122	c.28_29insT	c.(28-30)attfs	p.I10fs		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	10					vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACAGGTTTTATTTTTTTCTTG	0.317																																																	0			4																																								74566385	SO:0001589	frameshift_variant	173			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.35dupT	4.37:g.74347527_74347527dupT	ENSP00000226355:p.Ile10fs		74566384	A8K3E1|Q32MR3|Q4W5C5	Frame_Shift_Ins	INS	ENST00000226355.3	37	CCDS3557.1																																																																																				0.317	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
PAQR3	152559	hgsc.bcm.edu	37	4	79851421	79851422	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:79851421_79851422insT	ENST00000512733.1	-	3	619_620	c.406_407insA	c.(406-408)acafs	p.T136fs	PAQR3_ENST00000380645.4_Frame_Shift_Ins_p.T136fs|PAQR3_ENST00000295462.3_Frame_Shift_Ins_p.H82fs	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	136					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TCTTCGACATGTTTTTTCTGAC	0.356																																																	0			4																																								80070446	SO:0001589	frameshift_variant	152559			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.407dupA	4.37:g.79851427_79851427dupT	ENSP00000421981:p.Thr136fs		80070445	A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Frame_Shift_Ins	INS	ENST00000512733.1	37	CCDS34020.1																																																																																				0.356	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453	
SEC31A	22872	hgsc.bcm.edu	37	4	83745800	83745800	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:83745800delT	ENST00000395310.2	-	25	3501	c.3319delA	c.(3319-3321)attfs	p.I1107fs	SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I1120fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1107	Interaction with PDCD6.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388																																																	0			4											147.0	145.0	145.0					4																	83745800		2203	4300	6503	83964824	SO:0001589	frameshift_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3319delA	4.37:g.83745800delT	ENSP00000378721:p.Ile1107fs		83964824	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	CCDS3596.1																																																																																				0.388	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
PKD2	5311	hgsc.bcm.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:88986559delA	ENST00000508588.1	+	6	801	c.406delA	c.(406-408)aaafs	p.K137fs	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000237596.2_Frame_Shift_Del_p.K719fs			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	389					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383																																																	0			4											102.0	109.0	106.0					4																	88986559		2203	4300	6503	89205583	SO:0001589	frameshift_variant	25865			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.406delA	4.37:g.88986559delA	ENSP00000427131:p.Lys137fs		89205583	Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Del	DEL	ENST00000508588.1	37																																																																																					0.383	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297	
LARP7	51574	hgsc.bcm.edu	37	4	113570732	113570732	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:113570732delA	ENST00000344442.5	+	9	1462	c.1184delA	c.(1183-1185)caafs	p.Q395fs	MIR302B_ENST00000362188.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000324052.6_Frame_Shift_Del_p.Q395fs|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000510655.1_RNA|LARP7_ENST00000509061.1_Frame_Shift_Del_p.Q402fs	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	395					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTAGCGCTACAAAAAGCTAGC	0.328																																																	0			4											45.0	43.0	43.0					4																	113570732		2202	4296	6498	113790181	SO:0001589	frameshift_variant	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1184delA	4.37:g.113570732delA	ENSP00000344950:p.Gln395fs		113790181	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Del	DEL	ENST00000344442.5	37	CCDS3701.2																																																																																				0.328	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648	
ANK2	287	hgsc.bcm.edu	37	4	114276086	114276087	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:114276086_114276087insCA	ENST00000357077.4	+	38	6365_6366	c.6312_6313insCA	c.(6313-6315)cacfs	p.H2105fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.H2072fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2105					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAAGAAAGCCACAGAGAGAG	0.475																																																	0			4																																								114495536	SO:0001589	frameshift_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6315_6316dupCA	4.37:g.114276089_114276090dupCA	ENSP00000349588:p.His2105fs		114495535	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Ins	INS	ENST00000357077.4	37	CCDS3702.1																																																																																				0.475	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
PABPC4L	132430	hgsc.bcm.edu	37	4	135122231	135122231	+	5'UTR	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:135122231delG	ENST00000421491.3	-	0	200				PABPC4L_ENST00000529122.2_Frame_Shift_Del_p.H40fs			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like								nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						CAATCCCTGTGGGGGGATACT	0.562																																																	0			4																																								135341681	SO:0001623	5_prime_UTR_variant	132430			AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.-57C>-	4.37:g.135122231delG			135341681		Frame_Shift_Del	DEL	ENST00000421491.3	37																																																																																					0.562	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364399.2	NM_001114734	
SETD7	80854	hgsc.bcm.edu	37	4	140432892	140432892	+	Frame_Shift_Del	DEL	G	G	-	rs368140697		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:140432892delG	ENST00000274031.3	-	8	1662	c.1026delC	c.(1024-1026)cccfs	p.P342fs	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	342					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CACTCTTCCCGGGGGGGCTGT	0.607																																																	0			4											63.0	65.0	64.0					4																	140432892		2203	4300	6503	140652342	SO:0001589	frameshift_variant	80854			AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.1026delC	4.37:g.140432892delG	ENSP00000274031:p.Pro342fs		140652342	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Frame_Shift_Del	DEL	ENST00000274031.3	37	CCDS3748.1																																																																																				0.607	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648	
FBXW7	55294	hgsc.bcm.edu	37	4	153249360	153249361	+	Splice_Site	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:153249360_153249361insT	ENST00000281708.4	-	9	2646_2647	c.1417_1418insA	c.(1417-1419)aga>aAga	p.R473fs	FBXW7_ENST00000603841.1_Splice_Site_p.R473fs|FBXW7_ENST00000603548.1_Splice_Site_p.R473fs|FBXW7_ENST00000263981.5_Splice_Site_p.R393fs|FBXW7_ENST00000393956.3_Splice_Site_p.R297fs|FBXW7_ENST00000296555.5_Splice_Site_p.R355fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	473					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R473fs*25(4)|p.R473fs*4(3)|p.R234fs*25(1)|p.R393fs*25(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTCCCTTACCTTTTTTCATGA	0.416			"""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"""	10	Deletion - Frameshift(6)|Insertion - Frameshift(3)|Unknown(1)	large_intestine(6)|NS(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|endometrium(1)	4																																								153468811	SO:0001630	splice_region_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.1418+1->A	4.37:g.153249366_153249366dupT			153468810	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	CCDS3777.1																																																																																				0.416	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		Frame_Shift_Ins
SNX25	83891	hgsc.bcm.edu	37	4	186272695	186272695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr4:186272695delA	ENST00000504273.1	+	14	2200	c.1906delA	c.(1906-1908)aaafs	p.K637fs	SNX25_ENST00000264694.8_Frame_Shift_Del_p.K637fs|SNX25_ENST00000512853.1_Intron			Q9H3E2	SNX25_HUMAN	sorting nexin 25	637					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CGTGCAGGGGAAAAAAAATTC	0.433																																																	0			4											142.0	136.0	138.0					4																	186272695		2203	4300	6503	186509689	SO:0001589	frameshift_variant	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1906delA	4.37:g.186272695delA	ENSP00000426255:p.Lys637fs		186509689	Q3ZT30|Q8N6K3	Frame_Shift_Del	DEL	ENST00000504273.1	37	CCDS34116.1																																																																																				0.433	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	
NIPBL	25836	hgsc.bcm.edu	37	5	37064899	37064899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:37064899delA	ENST00000282516.8	+	47	8819	c.8320delA	c.(8320-8322)aaafs	p.K2775fs		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2775					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CATTATTTACAAAAAAATTGC	0.463																																																	0			5											57.0	58.0	58.0					5																	37064899		2203	4300	6503	37100656	SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8320delA	5.37:g.37064899delA	ENSP00000282516:p.Lys2775fs		37100656	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	CCDS3920.1																																																																																				0.463	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
FYB	2533	hgsc.bcm.edu	37	5	39202038	39202038	+	Frame_Shift_Del	DEL	G	G	-	rs374928648		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:39202038delG	ENST00000351578.6	-	2	1215	c.1025delC	c.(1024-1026)ccgfs	p.P342fs	FYB_ENST00000515010.1_Frame_Shift_Del_p.P342fs|FYB_ENST00000540520.1_Frame_Shift_Del_p.P352fs|FYB_ENST00000512982.1_Frame_Shift_Del_p.P342fs|FYB_ENST00000505428.1_Frame_Shift_Del_p.P342fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	342					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P342L(3)|p.P352L(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTCTGTTTCGGGGTGGCTGA	0.532																																																	4	Substitution - Missense(4)	lung(4)	5											138.0	141.0	140.0					5																	39202038		1926	4121	6047	39237795	SO:0001589	frameshift_variant	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1025delC	5.37:g.39202038delG	ENSP00000316460:p.Pro342fs		39237795	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Del	DEL	ENST00000351578.6	37	CCDS47200.1																																																																																				0.532	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
MSH3	4437	hgsc.bcm.edu	37	5	79970915	79970916	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AA	AA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:79970915_79970916delAA	ENST00000265081.6	+	7	1221_1222	c.1141_1142delAA	c.(1141-1143)aaafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGGC	0.347								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0			5																																								80006672	SO:0001589	frameshift_variant	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1141_1142delAA	5.37:g.79970921_79970922delAA	ENSP00000265081:p.Lys383fs		80006671	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	ENST00000265081.6	37	CCDS34195.1																																																																																				0.347	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
KIAA0825	285600	hgsc.bcm.edu	37	5	93788720	93788720	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:93788720delA	ENST00000513200.3	-	12	2373	c.2301delT	c.(2299-2301)tttfs	p.F767fs	KIAA0825_ENST00000312498.7_Frame_Shift_Del_p.F767fs|KIAA0825_ENST00000427991.2_Frame_Shift_Del_p.F767fs	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	767										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ATGGTTGCTTAAAAAATGATT	0.343																																																	0			5											56.0	52.0	53.0					5																	93788720		692	1590	2282	93814476	SO:0001589	frameshift_variant	285600			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.2301delT	5.37:g.93788720delA	ENSP00000424618:p.Phe767fs		93814476	O94914|Q6ZNN2	Frame_Shift_Del	DEL	ENST00000513200.3	37																																																																																					0.343	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665	
SEMA6A	57556	hgsc.bcm.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604																																																	0			5																																								115810664	SO:0001589	frameshift_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2638dupC	5.37:g.115782770_115782770dupG	ENSP00000345512:p.Lys880fs		115810663	Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	CCDS47256.1																																																																																				0.604	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
ANKHD1	54882	hgsc.bcm.edu	37	5	139907857	139907857	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:139907857delA	ENST00000360839.2	+	29	5480	c.5326delA	c.(5326-5328)aaafs	p.K1776fs	SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1776fs|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1776fs|ANKHD1_ENST00000544120.1_Frame_Shift_Del_p.K159fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1776						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGATTCCTAAAAATCATAT	0.403																																																	0			5											103.0	99.0	101.0					5																	139907857		2203	4300	6503	139888041	SO:0001589	frameshift_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5326delA	5.37:g.139907857delA	ENSP00000354085:p.Lys1776fs		139888041	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	CCDS4225.1																																																																																				0.403	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
WDR55	54853	hgsc.bcm.edu	37	5	140049101	140049102	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:140049101_140049102insA	ENST00000358337.5	+	7	1251_1252	c.1014_1015insA	c.(1015-1017)aaafs	p.K339fs	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	339					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.K341fs*8(1)		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)			ACCGTCGGCGCAAAAAAAAGGG	0.589																																																	1	Deletion - Frameshift(1)	large_intestine(1)	5								6,4258		0,6,2126						1.0	1.0			45	11,8243		0,11,4116	no	frameshift	WDR55	NM_017706.4		0,17,6242	A1A1,A1R,RR		0.1333,0.1407,0.1358				17,12501				140029286	SO:0001589	frameshift_variant	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.1022dupA	5.37:g.140049109_140049109dupA	ENSP00000351100:p.Lys339fs		140029285	Q9NXK4	Frame_Shift_Ins	INS	ENST00000358337.5	37	CCDS4235.1																																																																																				0.589	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706	
RBM27	54439	hgsc.bcm.edu	37	5	145647319	145647320	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:145647319_145647320insA	ENST00000265271.5	+	15	2605_2606	c.2439_2440insA	c.(2440-2442)aaafs	p.K814fs	RBM27_ENST00000506502.1_Frame_Shift_Ins_p.K759fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	814					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K816fs*5(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAGTGCTTAAAAAAAAACA	0.351																																																	1	Deletion - Frameshift(1)	ovary(1)	5																																								145627513	SO:0001589	frameshift_variant	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2448dupA	5.37:g.145647328_145647328dupA	ENSP00000265271:p.Lys814fs		145627512	Q8IYW9	Frame_Shift_Ins	INS	ENST00000265271.5	37	CCDS43378.1																																																																																				0.351	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
TCERG1	10915	hgsc.bcm.edu	37	5	145887465	145887465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:145887465delA	ENST00000296702.5	+	20	2978	c.2940delA	c.(2938-2940)gtafs	p.V980fs	TCERG1_ENST00000394421.2_Frame_Shift_Del_p.V959fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	980	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAAGAAGTAAAAAAAATCA	0.338																																																	0			5											89.0	84.0	86.0					5																	145887465		2203	4299	6502	145867658	SO:0001589	frameshift_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2940delA	5.37:g.145887465delA	ENSP00000296702:p.Val980fs		145867658	Q2NKN2|Q59EA1	Frame_Shift_Del	DEL	ENST00000296702.5	37	CCDS4282.1																																																																																				0.338	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
LARP1	23367	hgsc.bcm.edu	37	5	154173390	154173390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:154173390delC	ENST00000336314.4	+	6	692	c.668delC	c.(667-669)gccfs	p.A223fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	300					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGCCCGTGGCCCCCCCCACC	0.642																																																	1	Insertion - Frameshift(1)	large_intestine(1)	5											87.0	103.0	98.0					5																	154173390		2203	4300	6503	154153583	SO:0001589	frameshift_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.668delC	5.37:g.154173390delC	ENSP00000336721:p.Ala223fs		154153583	O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																				0.642	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
ADAM19	8728	hgsc.bcm.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804|rs199716249	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:156915296_156915297insG	ENST00000517905.1	-	21	2570_2571	c.2526_2527insC	c.(2524-2529)cccgcafs	p.A843fs	ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.A845fs|ADAM19_ENST00000257527.4_Frame_Shift_Ins_p.A843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.A576fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564																																																	0			5																																								156847875	SO:0001589	frameshift_variant	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2527dupC	5.37:g.156915302_156915302dupG	ENSP00000428654:p.Ala843fs		156847874	Q9BZL5|Q9UHP2	Frame_Shift_Ins	INS	ENST00000517905.1	37																																																																																					0.564	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	
PHYKPL	85007	hgsc.bcm.edu	37	5	177633743	177633745	+	IGR	DEL	AGA	AGA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AGA	AGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:177633743_177633745delAGA	ENST00000308158.5	-	0	2038				HNRNPAB_ENST00000514633.1_In_Frame_Del_p.K131del|PHYKPL_ENST00000481811.1_5'Flank|HNRNPAB_ENST00000506339.1_In_Frame_Del_p.K131del|HNRNPAB_ENST00000515193.1_In_Frame_Del_p.K131del|HNRNPAB_ENST00000506259.1_In_Frame_Del_p.K131del|HNRNPAB_ENST00000358344.3_In_Frame_Del_p.K131del|HNRNPAB_ENST00000355836.5_In_Frame_Del_p.K131del|HNRNPAB_ENST00000504898.1_In_Frame_Del_p.K131del	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)	GTCCTAGACCAGAAGGAGCACAG	0.522																																																	0			5																																								177566351	SO:0001628	intergenic_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		5.37:g.177633743_177633745delAGA			177566349	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	In_Frame_Del	DEL	ENST00000308158.5	37	CCDS4434.1																																																																																				0.522	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921	
GRM6	2916	hgsc.bcm.edu	37	5	178418554	178418555	+	Frame_Shift_Ins	INS	-	-	C	rs17078894|rs281865186	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:178418554_178418555insC	ENST00000517717.1	-	4	765_766	c.727_728insG	c.(727-729)gtcfs	p.V243fs	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Frame_Shift_Ins_p.V243fs			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	243					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCAATACAGACCCCCCCTGGG	0.624																																																	0			5	GRCh37	CI054463	GRM6	I				0,4262		0,0,2131				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.3	1.0		dbSNP_129	140	2,8252		0,2,4125	no	frameshift	GRM6	NM_000843.3		0,2,6256	A1A1,A1R,RR		0.0242,0.0,0.016				2,12514				178351161	SO:0001589	frameshift_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.728dupG	5.37:g.178418561_178418561dupC	ENSP00000430767:p.Val243fs		178351160		Frame_Shift_Ins	INS	ENST00000517717.1	37	CCDS4442.1																																																																																				0.624	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
ZFP62	643836	hgsc.bcm.edu	37	5	180277048	180277049	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CA	CA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr5:180277048_180277049delCA	ENST00000502412.1	-	2	1503_1504	c.1446_1447delTG	c.(1444-1449)tgtgggfs	p.CG482fs	ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000359141.6_Frame_Shift_Del_p.CG422fs|ZFP62_ENST00000512132.1_Frame_Shift_Del_p.CG449fs	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGCTTTCCCACACACATCAC	0.431																																																	0			5																																								180209655	SO:0001589	frameshift_variant	643836			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.1446_1447delTG	5.37:g.180277054_180277055delCA	ENSP00000423820:p.Cys482fs		180209654	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Frame_Shift_Del	DEL	ENST00000502412.1	37	CCDS54955.1																																																																																				0.431	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368386.2	NM_152283	
ATXN1	6310	hgsc.bcm.edu	37	6	16327163	16327163	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:16327163delG	ENST00000244769.4	-	8	2315	c.1379delC	c.(1378-1380)cctfs	p.P460fs	ATXN1_ENST00000436367.1_Frame_Shift_Del_p.P460fs	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	460					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCGATGACAGGGGGTTGAGT	0.657																																																	0			6											90.0	97.0	95.0					6																	16327163		2203	4300	6503	16435142	SO:0001589	frameshift_variant	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1379delC	6.37:g.16327163delG	ENSP00000244769:p.Pro460fs		16435142	Q17S02|Q9UJG2|Q9Y4J1	Frame_Shift_Del	DEL	ENST00000244769.4	37	CCDS34342.1																																																																																				0.657	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
ZNF311	282890	hgsc.bcm.edu	37	6	28963809	28963809	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:28963809delT	ENST00000377179.3	-	7	1482	c.970delA	c.(970-972)accfs	p.T324fs	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	324					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)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCACTGTGGGTTTTTTTATGT	0.507																																																	0			6											72.0	62.0	66.0					6																	28963809		1511	2709	4220	29071788	SO:0001589	frameshift_variant	282890			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.970delA	6.37:g.28963809delT	ENSP00000366384:p.Thr324fs		29071788	A2BFK5|B0S7Y4|Q92971	Frame_Shift_Del	DEL	ENST00000377179.3	37	CCDS34357.1																																																																																				0.507	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581	
DHX16	8449	hgsc.bcm.edu	37	6	30621048	30621048	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:30621048delT	ENST00000376442.3	-	20	3292	c.3097delA	c.(3097-3099)atafs	p.I1033fs	DHX16_ENST00000376437.5_Frame_Shift_Del_p.I552fs	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	1033					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.I1033fs*>10(1)		kidney(2)|ovary(2)	4						GTTTTGCCTATTTTTTTGGGC	0.418																																																	1	Insertion - Frameshift(1)	large_intestine(1)	6											144.0	126.0	133.0					6																	30621048		1511	2709	4220	30729027	SO:0001589	frameshift_variant	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.3097delA	6.37:g.30621048delT	ENSP00000365625:p.Ile1033fs		30729027	O60322|Q5JP45|Q969X7|Q96QC1	Frame_Shift_Del	DEL	ENST00000376442.3	37	CCDS4685.1																																																																																				0.418	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	
BTNL2	56244	hgsc.bcm.edu	37	6	32370970	32370970	+	Frame_Shift_Del	DEL	G	G	-	rs370253771|rs60740710	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:32370970delG	ENST00000374993.1	-	3	450	c.451delC	c.(451-453)cacfs	p.H151fs	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000454136.3_Frame_Shift_Del_p.H151fs|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	151	Ig-like V-type 2.					integral component of membrane (GO:0016021)		p.H151fs*96(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCCTCCATGTGGATGCTAGGG	0.602													GG|GG|G|deletion	672	0.134185	0.1369	0.1369	5008	,	,		18467	0.1984		0.0974	False		,,,				2504	0.1002																1	Deletion - Frameshift(1)	kidney(1)	6								408,3086		47,314,1386	22.0	22.0	22.0			3.5	0.9	6	dbSNP_129	24	520,6118		63,394,2862	yes	frameshift	BTNL2	NM_019602.1		110,708,4248	A1A1,A1R,RR		7.8337,11.6772,9.1591			32370970	928,9204	1502	2696	4198	32478948	SO:0001589	frameshift_variant	56244			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.451delC	6.37:g.32370970delG	ENSP00000364132:p.His151fs		32478948	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Frame_Shift_Del	DEL	ENST00000374993.1	37																																																																																					0.602	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602	
FAM135A	57579	hgsc.bcm.edu	37	6	71235776	71235776	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:71235776delA	ENST00000418814.2	+	15	3603	c.2989delA	c.(2989-2991)aaafs	p.K998fs	FAM135A_ENST00000370479.3_Frame_Shift_Del_p.K785fs|FAM135A_ENST00000505868.1_Frame_Shift_Del_p.K998fs|FAM135A_ENST00000457062.2_Frame_Shift_Del_p.K785fs|FAM135A_ENST00000505769.1_Frame_Shift_Del_p.K578fs|FAM135A_ENST00000361499.3_Frame_Shift_Del_p.K802fs	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	998										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAGAACTATGAAAAAAAATAG	0.333																																																	0			6											37.0	38.0	38.0					6																	71235776		2201	4298	6499	71292497	SO:0001589	frameshift_variant	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2989delA	6.37:g.71235776delA	ENSP00000410768:p.Lys998fs		71292497	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Frame_Shift_Del	DEL	ENST00000418814.2	37	CCDS55028.1																																																																																				0.333	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819	
RIMS1	22999	hgsc.bcm.edu	37	6	72596775	72596775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:72596775delC	ENST00000521978.1	+	1	49	c.49delC	c.(49-51)cccfs	p.P18fs	RIMS1_ENST00000520567.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000517960.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000264839.7_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000522291.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000518273.1_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000491071.2_Frame_Shift_Del_p.P18fs|RIMS1_ENST00000348717.5_Frame_Shift_Del_p.P18fs	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	18					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.M19fs*7(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CACGGTGCCTCCCCCCATGCA	0.637																																																	1	Deletion - Frameshift(1)	large_intestine(1)	6											28.0	34.0	32.0					6																	72596775		2033	4171	6204	72653496	SO:0001589	frameshift_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.49delC	6.37:g.72596775delC	ENSP00000428417:p.Pro18fs		72653496	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Del	DEL	ENST00000521978.1	37	CCDS47449.1																																																																																				0.637	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
ZNF292	23036	hgsc.bcm.edu	37	6	87967280	87967280	+	Frame_Shift_Del	DEL	G	G	-	rs571636248		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:87967280delG	ENST00000369577.3	+	8	3976	c.3933delG	c.(3931-3933)aagfs	p.K1311fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.K1306fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1311						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTTCTAAAGGGGGGTAATG	0.373																																																	0			6											28.0	27.0	28.0					6																	87967280		1846	4091	5937	88023999	SO:0001589	frameshift_variant	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3933delG	6.37:g.87967280delG	ENSP00000358590:p.Lys1311fs		88023999	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	CCDS47457.1																																																																																				0.373	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
MDN1	23195	hgsc.bcm.edu	37	6	90432675	90432675	+	Splice_Site	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:90432675delT	ENST00000369393.3	-	40	6081	c.5966delA	c.(5965-5967)aag>ag	p.K1989fs	MDN1_ENST00000428876.1_Splice_Site_p.K1989fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1989					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAACTCACCTTTTTTTTGTC	0.403																																																	0			6											124.0	137.0	133.0					6																	90432675		2203	4300	6503	90489396	SO:0001630	splice_region_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5967+1A>-	6.37:g.90432675delT			90489396	O15019|Q5T794	Frame_Shift_Del	DEL	ENST00000369393.3	37	CCDS5024.1																																																																																				0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Frame_Shift_Del
SEC63	11231	hgsc.bcm.edu	37	6	108214755	108214755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:108214755delT	ENST00000369002.4	-	16	1784	c.1605delA	c.(1603-1605)aaafs	p.K535fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	535	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.K535fs*28(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAGGTGTAGGTTTTTTTTTTA	0.343																																																	1	Deletion - Frameshift(1)	ovary(1)	6											115.0	119.0	117.0					6																	108214755		2202	4300	6502	108321448	SO:0001589	frameshift_variant	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1605delA	6.37:g.108214755delT	ENSP00000357998:p.Lys535fs		108321448	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Frame_Shift_Del	DEL	ENST00000369002.4	37	CCDS5061.1																																																																																				0.343	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214	
REV3L	5980	hgsc.bcm.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:111693903_111693904insG	ENST00000358835.3	-	14	6108_6109	c.5654_5655insC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000368802.3_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.P1807fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.P1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)																																									0			6																																								111800597	SO:0001589	frameshift_variant	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5655dupC	6.37:g.111693910_111693910dupG	ENSP00000351697:p.Pro1885fs		111800596	O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	CCDS5091.2																																																																																				0.431	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
ENPP3	5169	hgsc.bcm.edu	37	6	132006591	132006591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:132006591delC	ENST00000414305.1	+	14	1536	c.1208delC	c.(1207-1209)gccfs	p.A403fs	ENPP3_ENST00000358229.5_Frame_Shift_Del_p.A403fs|ENPP3_ENST00000357639.3_Frame_Shift_Del_p.A403fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GAAGGGCCTGCCCCCCGCATC	0.363																																																	0			6											133.0	151.0	145.0					6																	132006591		2203	4300	6503	132048284	SO:0001589	frameshift_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1208delC	6.37:g.132006591delC	ENSP00000406261:p.Ala403fs		132048284	Q5JTL3	Frame_Shift_Del	DEL	ENST00000414305.1	37	CCDS5148.1																																																																																				0.363	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2		
OR2A4	79541	hgsc.bcm.edu	37	6	132022010	132022010	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:132022010delA	ENST00000315453.2	-	1	625	c.532delT	c.(532-534)tgtfs	p.C178fs	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	178					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		AAGATTTCACAAAAAAAGTGA	0.458																																																	0			6											4.0	6.0	6.0					6																	132022010		1296	3636	4932	132063703	SO:0001589	frameshift_variant	79541			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"""GPCR / Class A : Olfactory receptors"""	14729	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 10"""	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.532delT	6.37:g.132022010delA	ENSP00000319546:p.Cys178fs		132063703	Q0VAR3|Q6IF18|Q9NQN0	Frame_Shift_Del	DEL	ENST00000315453.2	37	CCDS5149.1																																																																																				0.458	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908	
AHI1	54806	hgsc.bcm.edu	37	6	135784283	135784284	+	Frame_Shift_Ins	INS	-	-	T	rs202061323		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:135784283_135784284insT	ENST00000367800.4	-	6	1126_1127	c.910_911insA	c.(910-912)acafs	p.T304fs	AHI1_ENST00000457866.2_Frame_Shift_Ins_p.T304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.T304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307																																																	0			6	GRCh37	CI061497	AHI1	I																																				135825977	SO:0001589	frameshift_variant	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.911dupA	6.37:g.135784291_135784291dupT	ENSP00000356774:p.Thr304fs		135825976	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Frame_Shift_Ins	INS	ENST00000367800.4	37	CCDS47483.1																																																																																				0.307	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
AKAP12	9590	hgsc.bcm.edu	37	6	151671330	151671330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr6:151671330delA	ENST00000253332.1	+	3	1993	c.1804delA	c.(1804-1806)aaafs	p.K603fs	AKAP12_ENST00000354675.6_Frame_Shift_Del_p.K505fs|AKAP12_ENST00000359755.5_Frame_Shift_Del_p.K498fs|AKAP12_ENST00000402676.2_Frame_Shift_Del_p.K603fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	603					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CGATGGAGAGAAAAAAAGAGA	0.517																																					Melanoma(141;1616 1805 10049 24534 51979)												0			6											51.0	51.0	51.0					6																	151671330		2203	4300	6503	151713023	SO:0001589	frameshift_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1804delA	6.37:g.151671330delA	ENSP00000253332:p.Lys603fs		151713023	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Del	DEL	ENST00000253332.1	37	CCDS5229.1																																																																																				0.517	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
PHF14	9678	hgsc.bcm.edu	37	7	11030370	11030370	+	Frame_Shift_Del	DEL	A	A	-	rs188488010		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:11030370delA	ENST00000403050.3	+	4	1393	c.941delA	c.(940-942)caafs	p.Q314fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.Q29fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	314					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGGAGCTCTCAAAAAATGGAC	0.323																																																	0			7											112.0	98.0	102.0					7																	11030370		1839	4094	5933	10996895	SO:0001589	frameshift_variant	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.941delA	7.37:g.11030370delA	ENSP00000385795:p.Gln314fs		10996895	A7MCZ3|B4DI82	Frame_Shift_Del	DEL	ENST00000403050.3	37	CCDS47542.1																																																																																				0.323	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660	
ITGB8	3696	hgsc.bcm.edu	37	7	20371449	20371450	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:20371449_20371450insT	ENST00000222573.4	+	1	704_705	c.20_21insT	c.(19-24)gcttttfs	p.AF7fs	ITGB8_ENST00000537992.1_Intron|CTA-293F17.1_ENST00000605357.1_RNA|CTA-293F17.1_ENST00000603156.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	7					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCGGCCCTGGCTTTTTTTACCG	0.668																																																	0			7																																								20337975	SO:0001589	frameshift_variant	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.27dupT	7.37:g.20371456_20371456dupT	ENSP00000222573:p.Ala7fs		20337974	A4D133|B4DHD4	Frame_Shift_Ins	INS	ENST00000222573.4	37	CCDS5370.1																																																																																				0.668	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
RAPGEF5	9771	hgsc.bcm.edu	37	7	22197474	22197474	+	Splice_Site	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:22197474delT	ENST00000401957.2	-	5	894	c.647delA	c.(646-648)aag>ag	p.K216fs	RAPGEF5_ENST00000344041.6_Splice_Site_p.K366fs			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	216					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTGCTTACCTTTTTTTGTGG	0.398																																																	0			7											118.0	116.0	117.0					7																	22197474		1871	4095	5966	22163999	SO:0001630	splice_region_variant	9771			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.648+1A>-	7.37:g.22197474delT			22163999	A4D140|Q8IXU5	Frame_Shift_Del	DEL	ENST00000401957.2	37																																																																																					0.398	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294	Frame_Shift_Del
ANLN	54443	hgsc.bcm.edu	37	7	36489339	36489340	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:36489339_36489340insT	ENST00000265748.2	+	23	3365_3366	c.3144_3145insT	c.(3145-3147)tttfs	p.F1049fs	ANLN_ENST00000396068.2_Frame_Shift_Ins_p.F1012fs	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1049	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CCAACAGAGAATTTTGTGCAAG	0.391																																																	0			7																																								36455865	SO:0001589	frameshift_variant	54443			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.3148dupT	7.37:g.36489343_36489343dupT	ENSP00000265748:p.Phe1049fs		36455864	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Frame_Shift_Ins	INS	ENST00000265748.2	37	CCDS5447.1																																																																																				0.391	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
NME8	51314	hgsc.bcm.edu	37	7	37901718	37901718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:37901718delT	ENST00000199447.4	+	7	731	c.359delT	c.(358-360)attfs	p.I120fs	NME8_ENST00000440017.1_Frame_Shift_Del_p.I120fs|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	120					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GAGAGAAAAATTGCAGCAGGT	0.348																																																	0			7											55.0	59.0	57.0					7																	37901718		2203	4300	6503	37868243	SO:0001589	frameshift_variant	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.359delT	7.37:g.37901718delT	ENSP00000199447:p.Ile120fs		37868243	Q9NZH1	Frame_Shift_Del	DEL	ENST00000199447.4	37	CCDS5452.1																																																																																				0.348	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
URGCP	55665	hgsc.bcm.edu	37	7	43917500	43917500	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:43917500delG	ENST00000453200.1	-	6	2055	c.1562delC	c.(1561-1563)cctfs	p.P521fs	URGCP_ENST00000336086.6_Frame_Shift_Del_p.P478fs|URGCP_ENST00000223341.7_Frame_Shift_Del_p.P478fs|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Frame_Shift_Del_p.P512fs|URGCP_ENST00000447717.3_Frame_Shift_Del_p.P478fs|URGCP_ENST00000443736.1_Frame_Shift_Del_p.P478fs			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	521					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGCTTCTCAGGGGGGTCCAC	0.642																																																	0			7											52.0	56.0	55.0					7																	43917500		1972	4162	6134	43884025	SO:0001589	frameshift_variant	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1562delC	7.37:g.43917500delG	ENSP00000396918:p.Pro521fs		43884025	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Del	DEL	ENST00000453200.1	37	CCDS47578.1																																																																																				0.642	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
DTX2	113878	hgsc.bcm.edu	37	7	76129798	76129798	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:76129798delA	ENST00000324432.5	+	8	1701	c.1191delA	c.(1189-1191)atafs	p.I397fs	DTX2_ENST00000446600.1_Frame_Shift_Del_p.I306fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.I350fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.I397fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.I350fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.I397fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	397					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCAGGTCATAAAAAACTACA	0.527																																																	0			7											3.0	4.0	4.0					7																	76129798		1495	3503	4998	75967734	SO:0001589	frameshift_variant	113878				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1191delA	7.37:g.76129798delA	ENSP00000322885:p.Ile397fs		75967734	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	CCDS5587.1																																																																																				0.527	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2		
ZKSCAN5	23660	hgsc.bcm.edu	37	7	99103706	99103706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:99103706delC	ENST00000394170.2	+	2	290	c.39delC	c.(37-39)gacfs	p.D13fs	ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.D13fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.D13fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGACTTAGACCCCCCAGCTG	0.483																																																	0			7											85.0	88.0	87.0					7																	99103706		2203	4300	6503	98941642	SO:0001589	frameshift_variant	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.39delC	7.37:g.99103706delC	ENSP00000377725:p.Asp13fs		98941642	A4D280|D6W5S9	Frame_Shift_Del	DEL	ENST00000394170.2	37	CCDS5667.1																																																																																				0.483	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569	
ZAN	7455	hgsc.bcm.edu	37	7	100363155	100363155	+	RNA	DEL	A	A	-	rs201491474		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:100363155delA	ENST00000348028.3	+	0	4613				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGTGCCTCCACCCTGCAGGC	0.622																																																	0			7											28.0	31.0	30.0					7																	100363155		2081	4211	6292	100201091			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100363155delA			100201091	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37																																																																																					0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
AP1S1	1174	hgsc.bcm.edu	37	7	100802405	100802405	+	Frame_Shift_Del	DEL	G	G	-	rs571529719		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:100802405delG	ENST00000337619.5	+	4	475	c.357delG	c.(355-357)atgfs	p.M119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					AGTTTTTGATGGGGGGGGATG	0.562																																																	0			7											63.0	66.0	65.0					7																	100802405		2008	4168	6176	100589125	SO:0001589	frameshift_variant	1174			AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.357delG	7.37:g.100802405delG	ENSP00000336666:p.Met119fs		100589125	B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Del	DEL	ENST00000337619.5	37	CCDS47669.1																																																																																				0.562	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283	
CUX1	1523	hgsc.bcm.edu	37	7	101839974	101839974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:101839974delC	ENST00000292535.7	+	15	1321	c.1283delC	c.(1282-1284)gccfs	p.A428fs	CUX1_ENST00000550008.2_Frame_Shift_Del_p.A428fs|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000292538.4_Intron|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Frame_Shift_Del_p.A439fs|CUX1_ENST00000549414.2_Frame_Shift_Del_p.A428fs	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	428					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						TCTTTGCCGGCCCCCCCTCCT	0.567																																																	0			7											38.0	49.0	45.0					7																	101839974		2200	4299	6499	101626694	SO:0001589	frameshift_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.1283delC	7.37:g.101839974delC	ENSP00000292535:p.Ala428fs		101626694	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Frame_Shift_Del	DEL	ENST00000292535.7	37	CCDS5721.1																																																																																				0.567	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
TBXAS1	6916	hgsc.bcm.edu	37	7	139719863	139719863	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:139719863delA	ENST00000336425.5	+	17	1955	c.1566delA	c.(1564-1566)ccafs	p.P522fs	TBXAS1_ENST00000458722.1_Frame_Shift_Del_p.P568fs|TBXAS1_ENST00000263552.6_Frame_Shift_Del_p.P523fs|TBXAS1_ENST00000416849.2_Frame_Shift_Del_p.P569fs|TBXAS1_ENST00000411653.1_3'UTR|TBXAS1_ENST00000414508.2_3'UTR|TBXAS1_ENST00000448866.1_Frame_Shift_Del_p.P522fs|TBXAS1_ENST00000436047.2_Frame_Shift_Del_p.P523fs|TBXAS1_ENST00000425687.1_Frame_Shift_Del_p.P455fs			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	522					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCCTAGGTCCAAAAAATGGTG	0.438																																																	0			7											87.0	88.0	88.0					7																	139719863		2203	4300	6503	139366332	SO:0001589	frameshift_variant	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1566delA	7.37:g.139719863delA	ENSP00000338087:p.Pro522fs		139366332	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Frame_Shift_Del	DEL	ENST00000336425.5	37																																																																																					0.438	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1		
ATG9B	285973	hgsc.bcm.edu	37	7	150721218	150721218	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:150721218delG	ENST00000377974.2	-	1	368	c.293delC	c.(292-294)ccafs	p.P98fs	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Del_p.P98fs|ATG9B_ENST00000605938.1_Frame_Shift_Del_p.P98fs			Q674R7	ATG9B_HUMAN	autophagy related 9B	98	Pro-rich.				autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.T99fs*50(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCCTGTGTTGGGGGGGTGGC	0.647																																																	1	Insertion - Frameshift(1)	ovary(1)	7											16.0	20.0	19.0					7																	150721218		2006	4161	6167	150352151	SO:0001589	frameshift_variant	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.293delC	7.37:g.150721218delG	ENSP00000475005:p.Pro98fs		150352151	A1A5D3|Q6JRW5|Q8N8I8	Frame_Shift_Del	DEL	ENST00000377974.2	37																																																																																					0.647	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681	
ATG9B	285973	hgsc.bcm.edu	37	7	150721484	150721484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:150721484delC	ENST00000377974.2	-	1	102	c.27delG	c.(25-27)gggfs	p.G9fs	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Del_p.G9fs|ATG9B_ENST00000605938.1_Frame_Shift_Del_p.G9fs			Q674R7	ATG9B_HUMAN	autophagy related 9B	9					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTTCTTCTCCCCCCCCAGC	0.642																																																	0			7								28,31,2877		1,0,26,2,27,1412	3.0	4.0	4.0			3.1	0.2	7		4	45,83,6418		2,0,41,3,77,3150	no	codingComplex	ATG9B	NM_173681.5		3,0,67,5,104,4562	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9554,2.0095,1.9722			150721484	73,114,9295	1659	3688	5347	150352417	SO:0001589	frameshift_variant	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.27delG	7.37:g.150721484delC	ENSP00000475005:p.Gly9fs		150352417	A1A5D3|Q6JRW5|Q8N8I8	Frame_Shift_Del	DEL	ENST00000377974.2	37																																																																																					0.642	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681	
PAXIP1	22976	hgsc.bcm.edu	37	7	154782740	154782740	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr7:154782740delA	ENST00000404141.1	-	4	454	c.300delT	c.(298-300)tttfs	p.F100fs	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Frame_Shift_Del_p.F100fs			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	100	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAGTGATTCCAAAAAAAATCT	0.333																																																	0			7								16,3500		0,16,1742	47.0	45.0	45.0			5.3	1.0	7		46	34,7762		0,34,3864	no	frameshift	PAXIP1	NM_007349.3		0,50,5606	A1A1,A1R,RR		0.4361,0.4551,0.442			154782740	50,11262	1817	4069	5886	154413673	SO:0001589	frameshift_variant	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.300delT	7.37:g.154782740delA	ENSP00000384048:p.Phe100fs		154413673	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Frame_Shift_Del	DEL	ENST00000404141.1	37	CCDS47753.1																																																																																				0.333	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
TNKS	8658	hgsc.bcm.edu	37	8	9567544	9567544	+	Frame_Shift_Del	DEL	A	A	-	rs200458028		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:9567544delA	ENST00000310430.6	+	10	1684	c.1658delA	c.(1657-1659)gaafs	p.E553fs	TNKS_ENST00000518281.1_Frame_Shift_Del_p.E316fs|TNKS_ENST00000520408.1_Frame_Shift_Del_p.E553fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	553					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AATGTTAATGAAAAAAATAAA	0.338																																																	0			8											72.0	68.0	69.0					8																	9567544		2203	4300	6503	9604954	SO:0001589	frameshift_variant	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1658delA	8.37:g.9567544delA	ENSP00000311579:p.Glu553fs		9604954	O95272|Q4G0F2	Frame_Shift_Del	DEL	ENST00000310430.6	37	CCDS5974.1																																																																																				0.338	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	
MTUS1	57509	hgsc.bcm.edu	37	8	17581321	17581322	+	Frame_Shift_Ins	INS	-	-	T	rs369762682|rs535166254		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:17581321_17581322insT	ENST00000262102.6	-	4	2532_2533	c.2308_2309insA	c.(2308-2310)actfs	p.T770fs	MTUS1_ENST00000544260.1_5'Flank|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381861.3_5'Flank|MTUS1_ENST00000381869.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	770					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CGACTGTGCAGTTTTCAAGGAT	0.441																																																	0			8																																								17625602	SO:0001589	frameshift_variant	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2309dupA	8.37:g.17581325_17581325dupT	ENSP00000262102:p.Thr770fs		17625601	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Frame_Shift_Ins	INS	ENST00000262102.6	37	CCDS43717.1																																																																																				0.441	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
CCAR2	57805	hgsc.bcm.edu	37	8	22473324	22473324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:22473324delC	ENST00000308511.4	+	13	1756	c.1507delC	c.(1507-1509)cccfs	p.P504fs	RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Frame_Shift_Del_p.P179fs|CCAR2_ENST00000389279.3_Frame_Shift_Del_p.P504fs			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	504					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GGCCCCTCCACCCCCCCTAGA	0.572																																																	0			8											84.0	95.0	91.0					8																	22473324		2203	4300	6503	22529269	SO:0001589	frameshift_variant	57805			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1507delC	8.37:g.22473324delC	ENSP00000310670:p.Pro504fs		22529269	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Frame_Shift_Del	DEL	ENST00000308511.4	37	CCDS34863.1																																																																																				0.572	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174	
ADAM7	8756	hgsc.bcm.edu	37	8	24350675	24350675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:24350675delT	ENST00000175238.6	+	16	1858	c.1775delT	c.(1774-1776)attfs	p.I592fs	ADAM7_ENST00000520720.1_Frame_Shift_Del_p.I364fs|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Frame_Shift_Del_p.I592fs	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	592	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGCAAAACTATTTTTTTATAC	0.413																																																	0			8											94.0	93.0	93.0					8																	24350675		2203	4299	6502	24406565	SO:0001589	frameshift_variant	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1775delT	8.37:g.24350675delT	ENSP00000175238:p.Ile592fs		24406565	A8K8X7|O75959|Q6PEJ6	Frame_Shift_Del	DEL	ENST00000175238.6	37	CCDS6045.1																																																																																				0.413	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
DOCK5	80005	hgsc.bcm.edu	37	8	25174578	25174580	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	GAA	GAA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:25174578_25174580delGAA	ENST00000276440.7	+	14	1418_1420	c.1374_1376delGAA	c.(1372-1377)gggaag>ggg	p.K461del		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	461	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTGACAAAGGGAAGAAGAAGACG	0.502																																					Pancreas(145;34 1887 3271 10937 30165)												0			8																																								25230497	SO:0001651	inframe_deletion	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1374_1376delGAA	8.37:g.25174584_25174586delGAA	ENSP00000276440:p.Lys461del		25230495	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	In_Frame_Del	DEL	ENST00000276440.7	37	CCDS6047.1																																																																																				0.502	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
CHRNA6	8973	hgsc.bcm.edu	37	8	42611740	42611741	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:42611740_42611741insA	ENST00000276410.2	-	5	956_957	c.601_602insT	c.(601-603)tggfs	p.W201fs	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Frame_Shift_Ins_p.W186fs	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	201					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	ACTGTTTTCCCAAAAATCATTC	0.347																																																	0			8																																								42730898	SO:0001589	frameshift_variant	8973			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.602dupT	8.37:g.42611745_42611745dupA	ENSP00000276410:p.Trp201fs		42730897	B2R8V4|B4DQH1	Frame_Shift_Ins	INS	ENST00000276410.2	37	CCDS6135.1																																																																																				0.347	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1		
ADHFE1	137872	hgsc.bcm.edu	37	8	67356834	67356834	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:67356834delA	ENST00000396623.3	+	5	235	c.204delA	c.(202-204)ctafs	p.L68fs	ADHFE1_ENST00000379385.4_Frame_Shift_Del_p.L68fs|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Frame_Shift_Del_p.L20fs	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	68					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGTAGGACCTAAAAAACATGG	0.408																																																	0			8											151.0	147.0	148.0					8																	67356834		2203	4300	6503	67519388	SO:0001589	frameshift_variant	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.204delA	8.37:g.67356834delA	ENSP00000379865:p.Leu68fs		67519388	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Frame_Shift_Del	DEL	ENST00000396623.3	37	CCDS6190.2																																																																																				0.408	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	
ZFHX4	79776	hgsc.bcm.edu	37	8	77763302	77763302	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:77763302delA	ENST00000521891.2	+	10	4593	c.4145delA	c.(4144-4146)caafs	p.Q1382fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.Q1356fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.Q1337fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.Q1337fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATGAACAGCAAAAAAGGCAA	0.403										HNSCC(33;0.089)																																							0			8											107.0	100.0	102.0					8																	77763302		1865	4111	5976	77925857	SO:0001589	frameshift_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4145delA	8.37:g.77763302delA	ENSP00000430497:p.Gln1382fs		77925857	G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	CCDS47878.2																																																																																				0.403	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
LRRCC1	85444	hgsc.bcm.edu	37	8	86057694	86057695	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:86057694_86057695insA	ENST00000360375.3	+	19	3196_3197	c.3047_3048insA	c.(3046-3051)gcaaaafs	p.AK1016fs	LRRCC1_ENST00000414626.2_Frame_Shift_Ins_p.AK996fs	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	1016					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACAATGGAAGCAAAAATTAAGC	0.297																																																	0			8																																								86244947	SO:0001589	frameshift_variant	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.3052dupA	8.37:g.86057699_86057699dupA	ENSP00000353538:p.Ala1016fs		86244946	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Frame_Shift_Ins	INS	ENST00000360375.3	37	CCDS43750.1																																																																																				0.297	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
LRP12	29967	hgsc.bcm.edu	37	8	105509439	105509440	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:105509439_105509440insT	ENST00000276654.5	-	5	1448_1449	c.1340_1341insA	c.(1339-1341)aacfs	p.N447fs	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Frame_Shift_Ins_p.N428fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	447	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAAAAGCAGTTTTTTTCATC	0.421																																																	0			8																																								105578616	SO:0001589	frameshift_variant	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1341dupA	8.37:g.105509446_105509446dupT	ENSP00000276654:p.Asn447fs		105578615	A8K137|B4DRQ2	Frame_Shift_Ins	INS	ENST00000276654.5	37	CCDS6303.1																																																																																				0.421	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
LRP12	29967	hgsc.bcm.edu	37	8	105511547	105511548	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:105511547_105511548insA	ENST00000276654.5	-	4	580_581	c.472_473insT	c.(472-474)tcafs	p.S158fs	LRP12_ENST00000424843.2_Frame_Shift_Ins_p.S139fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	158	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAACACACCTGAAAAATATGCC	0.356																																																	0			8																																								105580724	SO:0001589	frameshift_variant	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.473dupT	8.37:g.105511552_105511552dupA	ENSP00000276654:p.Ser158fs		105580723	A8K137|B4DRQ2	Frame_Shift_Ins	INS	ENST00000276654.5	37	CCDS6303.1																																																																																				0.356	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
KCNQ3	3786	hgsc.bcm.edu	37	8	133150233	133150233	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:133150233delT	ENST00000388996.4	-	12	2019	c.1599delA	c.(1597-1599)aaafs	p.K533fs	KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.K413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.K533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTCCTTGAATTTTTTTTTAT	0.453																																																	0			8											103.0	101.0	102.0					8																	133150233		2203	4300	6503	133219415	SO:0001589	frameshift_variant	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1599delA	8.37:g.133150233delT	ENSP00000373648:p.Lys533fs		133219415	A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Del	DEL	ENST00000388996.4	37	CCDS34943.1																																																																																				0.453	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
OPLAH	26873	hgsc.bcm.edu	37	8	145109542	145109542	+	Frame_Shift_Del	DEL	G	G	-	rs539582965	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr8:145109542delG	ENST00000426825.1	-	19	2689	c.2608delC	c.(2608-2610)cacfs	p.H870fs	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	870					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGTGGAGTGGGGGGGCATG	0.642																																																	0			8											41.0	48.0	46.0					8																	145109542		2102	4221	6323	145181530	SO:0001589	frameshift_variant	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2608delC	8.37:g.145109542delG	ENSP00000475943:p.His870fs		145181530	A5PKY8|Q75W65|Q9Y4Q0	Frame_Shift_Del	DEL	ENST00000426825.1	37																																																																																					0.642	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	
PLGRKT	55848	hgsc.bcm.edu	37	9	5361787	5361787	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:5361787delA	ENST00000223864.2	-	4	404	c.183delT	c.(181-183)tttfs	p.F61fs	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	61					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											CTGCAAGGCCAAAAAAAGTTC	0.383																																																	0			9											92.0	90.0	91.0					9																	5361787		2203	4300	6503	5351787	SO:0001589	frameshift_variant	55848			AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.183delT	9.37:g.5361787delA	ENSP00000223864:p.Phe61fs		5351787	B2R6W0|Q9NZ44	Frame_Shift_Del	DEL	ENST00000223864.2	37	CCDS6463.1																																																																																				0.383	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1	NM_018465	
CNTLN	54875	hgsc.bcm.edu	37	9	17135271	17135271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:17135271delG	ENST00000380647.3	+	1	292	c.208delG	c.(208-210)gggfs	p.G71fs	CNTLN_ENST00000262360.5_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000425824.1_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000380641.4_Frame_Shift_Del_p.G71fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	71					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCGAGGGCCTGGGGGGGCAGC	0.687																																																	0			9							,	17,15,3612		0,0,17,0,15,1790					,	-9.0	0.0			16	35,39,7786		2,0,31,1,37,3859	no	codingComplex,codingComplex	CNTLN	NM_017738.2,NM_001114395.1	,	2,0,48,1,52,5649	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9415,0.8782,0.9214	,	,		52,54,11398				17125271	SO:0001589	frameshift_variant	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.208delG	9.37:g.17135271delG	ENSP00000370021:p.Gly71fs		17125271	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Del	DEL	ENST00000380647.3	37	CCDS43789.1																																																																																				0.687	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
PIGO	84720	hgsc.bcm.edu	37	9	35091693	35091693	+	Frame_Shift_Del	DEL	G	G	-	rs148341577		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:35091693delG	ENST00000378617.3	-	7	2585	c.2191delC	c.(2191-2193)cgtfs	p.R731fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Del_p.R731fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	731					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.R731fs*17(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCCGGAGACGGGGGGGAGCC	0.662																																																	1	Deletion - Frameshift(1)	large_intestine(1)	9							,,	5,4057		0,5,2026	25.0	29.0	28.0		,,	5.4	1.0	9		28	12,7918		0,12,3953	no	intron,frameshift,intron	PIGO	NM_152850.3,NM_032634.3,NM_001201484.1	,,	0,17,5979	A1A1,A1R,RR		0.1513,0.1231,0.1418	,,	,,	35091693	17,11975	2145	4204	6349	35081693	SO:0001589	frameshift_variant	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2191delC	9.37:g.35091693delG	ENSP00000367880:p.Arg731fs		35081693	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Del	DEL	ENST00000378617.3	37	CCDS6575.1																																																																																				0.662	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	
RUSC2	9853	hgsc.bcm.edu	37	9	35547974	35547974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:35547974delC	ENST00000455600.1	+	2	2025	c.1456delC	c.(1456-1458)cccfs	p.P487fs		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	487						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAATACTTCACCCCCCAACCT	0.602																																																	0			9											68.0	74.0	72.0					9																	35547974		2203	4300	6503	35537974	SO:0001589	frameshift_variant	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1456delC	9.37:g.35547974delC	ENSP00000393922:p.Pro487fs		35537974	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Frame_Shift_Del	DEL	ENST00000455600.1	37	CCDS35008.1																																																																																				0.602	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
ZBTB5	9925	hgsc.bcm.edu	37	9	37442272	37442272	+	Frame_Shift_Del	DEL	C	C	-	rs369892279		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:37442272delC	ENST00000307750.4	-	2	465	c.277delG	c.(277-279)gagfs	p.E93fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	93	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACATTGCTCTCCCCCAGCATG	0.483																																																	0			9											174.0	129.0	144.0					9																	37442272		2203	4300	6503	37432272	SO:0001589	frameshift_variant	9925			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.277delG	9.37:g.37442272delC	ENSP00000307604:p.Glu93fs		37432272		Frame_Shift_Del	DEL	ENST00000307750.4	37	CCDS6610.1																																																																																				0.483	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872	
FOXD4L2	100036519	hgsc.bcm.edu	37	9	42719309	42719311	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	GCT	GCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:42719309_42719311delGCT	ENST00000377590.1	+	1	2076_2078	c.1244_1246delGCT	c.(1243-1248)cgctgc>cgc	p.C416del		NM_001099279.1	NP_001092749.1	Q6VB85	FX4L2_HUMAN	forkhead box D4-like 2	416					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CCTCGTCGGCGCTGCTGAGGTAT	0.64																																																	0			9																																								42709307	SO:0001651	inframe_deletion	100036519					9p12	2008-07-21			ENSG00000204828				24813	protein-coding gene	gene with protein product						12421752	Standard			Approved	OTTHUMG00000066752	uc004acn.3	Q6VB85	OTTHUMG00000066752	ENST00000377590.1:c.1244_1246delGCT	9.37:g.42719312_42719314delGCT	ENSP00000366814:p.Cys416del		42709305		In_Frame_Del	DEL	ENST00000377590.1	37	CCDS43817.1																																																																																				0.640	FOXD4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143077.1	NM_001099279	
C9orf41	138199	hgsc.bcm.edu	37	9	77631201	77631202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:77631201_77631202insT	ENST00000376834.3	-	3	724_725	c.572_573insA	c.(571-573)aatfs	p.N191fs	C9orf41_ENST00000376837.3_Frame_Shift_Ins_p.N191fs|RP11-197P3.5_ENST00000455336.2_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	191								p.N191K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CTTTTGGAAAATTTTTTAAAAT	0.342																																																	1	Substitution - Missense(1)	endometrium(1)	9																																								76821022	SO:0001589	frameshift_variant	138199			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.573dupA	9.37:g.77631207_77631207dupT	ENSP00000366030:p.Asn191fs		76821021	Q7Z383|Q8N7C5	Frame_Shift_Ins	INS	ENST00000376834.3	37	CCDS6649.1																																																																																				0.342	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420	
VPS13A	23230	hgsc.bcm.edu	37	9	79931126	79931128	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	TTA	TTA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:79931126_79931128delTTA	ENST00000360280.3	+	39	4927_4929	c.4667_4669delTTA	c.(4666-4671)gttatt>gtt	p.I1558del	VPS13A_ENST00000376636.3_In_Frame_Del_p.I1519del|VPS13A_ENST00000376634.4_In_Frame_Del_p.I1558del|VPS13A_ENST00000357409.5_In_Frame_Del_p.I1558del|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1558					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAATTAATGTTATTATTAAAAA	0.251																																																	0			9																																								79120948	SO:0001651	inframe_deletion	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4667_4669delTTA	9.37:g.79931132_79931134delTTA	ENSP00000353422:p.Ile1558del		79120946	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	In_Frame_Del	DEL	ENST00000360280.3	37	CCDS6655.1																																																																																				0.251	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
ZNF462	58499	hgsc.bcm.edu	37	9	109688688	109688688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:109688688delA	ENST00000277225.5	+	3	2784	c.2495delA	c.(2494-2496)gaafs	p.E832fs	ZNF462_ENST00000457913.1_Frame_Shift_Del_p.E832fs|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	832					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACAATAGTGAAAACACAGAC	0.423																																																	0			9											105.0	103.0	104.0					9																	109688688		2203	4300	6503	108728509	SO:0001589	frameshift_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2495delA	9.37:g.109688688delA	ENSP00000277225:p.Glu832fs		108728509	Q5T0T4|Q8N408	Frame_Shift_Del	DEL	ENST00000277225.5	37	CCDS35096.1																																																																																				0.423	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ANGPTL2	23452	hgsc.bcm.edu	37	9	129870930	129870930	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:129870930delA	ENST00000373425.3	-	2	698	c.81delT	c.(79-81)tttfs	p.F27fs	ANGPTL2_ENST00000373417.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	27					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CAGTGCCCTCAAAACCGTCCT	0.582																																																	0			9											63.0	54.0	57.0					9																	129870930		2203	4300	6503	128910751	SO:0001589	frameshift_variant	51129			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.81delT	9.37:g.129870930delA	ENSP00000362524:p.Phe27fs		128910751	Q5JT58|Q8NCH7	Frame_Shift_Del	DEL	ENST00000373425.3	37	CCDS6868.1																																																																																				0.582	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
SLC2A8	29988	hgsc.bcm.edu	37	9	130165010	130165011	+	Frame_Shift_Ins	INS	-	-	C	rs199808560		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:130165010_130165011insC	ENST00000373371.3	+	5	790_791	c.701_702insC	c.(700-705)gaccccfs	p.DP234fs	SLC2A8_ENST00000373360.3_Frame_Shift_Ins_p.DP234fs|SLC2A8_ENST00000373352.1_Intron	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	234					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GGCTGGGAAGACCCCCCCATCG	0.673																																																	0			9								5,4101		0,5,2048						4.0	1.0			12	9,7993		2,5,3994	no	frameshift	SLC2A8	NM_014580.3		2,10,6042	A1A1,A1R,RR		0.1125,0.1218,0.1156				14,12094				129204832	SO:0001589	frameshift_variant	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.708dupC	9.37:g.130165017_130165017dupC	ENSP00000362469:p.Asp234fs		129204831	Q8WUZ9|Q9NSC4	Frame_Shift_Ins	INS	ENST00000373371.3	37	CCDS6870.1																																																																																				0.673	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580	
RABL6	55684	hgsc.bcm.edu	37	9	139733732	139733732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr9:139733732delC	ENST00000311502.7	+	12	1788	c.1552delC	c.(1552-1554)cccfs	p.P519fs	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371663.4_Frame_Shift_Del_p.P520fs|RABL6_ENST00000371675.3_Frame_Shift_Del_p.P404fs|RABL6_ENST00000432842.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	519					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GACCGCAGCACCCCCCTGGCC	0.667																																																	0			9											22.0	30.0	27.0					9																	139733732		2077	4205	6282	138853553	SO:0001589	frameshift_variant	55684			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1552delC	9.37:g.139733732delC	ENSP00000311134:p.Pro519fs		138853553	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Frame_Shift_Del	DEL	ENST00000311502.7	37	CCDS48058.1																																																																																				0.667	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718	
PHYH	5264	hgsc.bcm.edu	37	10	13325835	13325835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:13325835delC	ENST00000263038.4	-	7	741	c.683delG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396920.3_Frame_Shift_Del_p.G211fs|PHYH_ENST00000396913.2_Frame_Shift_Del_p.G128fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTGTTAACTCCCCCCTAGAA	0.463																																																	0			10											229.0	238.0	235.0					10																	13325835		2203	4300	6503	13365841	SO:0001589	frameshift_variant	5264				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.683delG	10.37:g.13325835delC	ENSP00000263038:p.Gly228fs		13365841	A8MTS8|B1ALH5	Frame_Shift_Del	DEL	ENST00000263038.4	37	CCDS7097.1																																																																																				0.463	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2		
SVIL	6840	hgsc.bcm.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:29760116delC	ENST00000355867.4	-	31	6338	c.5586delG	c.(5584-5586)gggfs	p.G1862fs	SVIL_ENST00000460007.1_5'Flank|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Del_p.G776fs|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375398.2_Frame_Shift_Del_p.G1862fs|SVIL_ENST00000375400.3_Frame_Shift_Del_p.G1436fs	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1862					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCACCACCATCCCCCCCTGGA	0.527																																																	0			10											75.0	62.0	67.0					10																	29760116		2203	4300	6503	29800122	SO:0001589	frameshift_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5586delG	10.37:g.29760116delC	ENSP00000348128:p.Gly1862fs		29800122	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Del	DEL	ENST00000355867.4	37	CCDS7164.1																																																																																				0.527	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
CCDC7	79741	hgsc.bcm.edu	37	10	33018277	33018277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:33018277delA	ENST00000375030.2	+	13	1360	c.742delA	c.(742-744)aaafs	p.K250fs	C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs|C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs			Q9H943	CJ068_HUMAN		242										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTAGAAATCAAAAAAAAGGA	0.323																																																	0			10											49.0	52.0	51.0					10																	33018277		2200	4293	6493	33058283	SO:0001589	frameshift_variant	79741																														ENST00000375030.2:c.742delA	10.37:g.33018277delA	ENSP00000364170:p.Lys250fs		33058283	B0QZ71|Q08AN7|Q8N7T7	Frame_Shift_Del	DEL	ENST00000375030.2	37																																																																																					0.323	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2		
ITGB1	3688	hgsc.bcm.edu	37	10	33208969	33208969	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:33208969delT	ENST00000396033.2	-	11	1448	c.1313delA	c.(1312-1314)aagfs	p.K438fs	ITGB1_ENST00000374956.4_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000423113.1_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000302278.3_Frame_Shift_Del_p.K438fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	438					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GTCAGAATCCTTTTTTGGACA	0.338																																																	0			10											122.0	130.0	128.0					10																	33208969		2203	4300	6503	33248975	SO:0001589	frameshift_variant	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1313delA	10.37:g.33208969delT	ENSP00000379350:p.Lys438fs		33248975	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Frame_Shift_Del	DEL	ENST00000396033.2	37	CCDS7174.1																																																																																				0.338	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
GPRIN2	9721	hgsc.bcm.edu	37	10	46999591	46999592	+	In_Frame_Ins	INS	-	-	ATGAGGGAG	rs112620425	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	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	
ANK3	288	hgsc.bcm.edu	37	10	61865700	61865701	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:61865700_61865701insT	ENST00000280772.2	-	28	3481_3482	c.3290_3291insA	c.(3289-3291)aatfs	p.N1097fs	ANK3_ENST00000503366.1_Frame_Shift_Ins_p.N1098fs|ANK3_ENST00000373827.2_Frame_Shift_Ins_p.N1091fs|ANK3_ENST00000355288.2_Frame_Shift_Ins_p.N231fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1097	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAAATCTTCATTTTTGCTGTC	0.396																																																	0			10																																								61535707	SO:0001589	frameshift_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3291dupA	10.37:g.61865705_61865705dupT	ENSP00000280772:p.Asn1097fs		61535706	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	CCDS7258.1																																																																																				0.396	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
CCSER2	54462	hgsc.bcm.edu	37	10	86230175	86230176	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:86230175_86230176insA	ENST00000224756.8	+	8	2381_2382	c.2196_2197insA	c.(2197-2199)aaafs	p.K733fs	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000372088.2_Frame_Shift_Ins_p.K733fs|CCSER2_ENST00000543283.1_Frame_Shift_Ins_p.K160fs	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	733					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											ACGAAATAAAGAAAAAAGATGA	0.248																																																	0			10																																								86220156	SO:0001589	frameshift_variant	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2202dupA	10.37:g.86230181_86230181dupA	ENSP00000224756:p.Lys733fs		86220155	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Frame_Shift_Ins	INS	ENST00000224756.8	37	CCDS31235.1																																																																																				0.248	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
KIF20B	9585	hgsc.bcm.edu	37	10	91483748	91483748	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:91483748delA	ENST00000371728.3	+	14	1815	c.1750delA	c.(1750-1752)aaafs	p.K586fs	KIF20B_ENST00000394289.2_Frame_Shift_Del_p.K586fs|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Frame_Shift_Del_p.K586fs|KIF20B_ENST00000260753.4_Frame_Shift_Del_p.K586fs	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	586					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGAAGACTTGAAAAAAAAACT	0.294																																																	0			10								15,14,4143		0,0,15,3,8,2060	34.0	40.0	38.0			5.8	1.0	10		38	46,52,8118		0,0,46,12,28,4022	no	codingComplex	KIF20B	NM_016195.2		0,0,61,15,36,6082	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1928,0.6951,1.0252			91483748	61,66,12261	2165	4283	6448	91473728	SO:0001589	frameshift_variant	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1750delA	10.37:g.91483748delA	ENSP00000360793:p.Lys586fs		91473728	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Frame_Shift_Del	DEL	ENST00000371728.3	37																																																																																					0.294	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
FRA10AC1	118924	hgsc.bcm.edu	37	10	95445007	95445007	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:95445007delT	ENST00000359204.4	-	9	818	c.621delA	c.(619-621)aaafs	p.K207fs	FRA10AC1_ENST00000536233.1_Frame_Shift_Del_p.K207fs|FRA10AC1_ENST00000394100.2_Frame_Shift_Del_p.K207fs|FRA10AC1_ENST00000371430.2_Frame_Shift_Del_p.K207fs	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	207	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ACTTACTTAATTTAACAAGTG	0.264																																																	0			10											97.0	110.0	106.0					10																	95445007		2201	4295	6496	95434997	SO:0001589	frameshift_variant	118924			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.621delA	10.37:g.95445007delT	ENSP00000360488:p.Lys207fs		95434997	C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Frame_Shift_Del	DEL	ENST00000359204.4	37	CCDS7430.1																																																																																				0.264	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246	
NOC3L	64318	hgsc.bcm.edu	37	10	96106304	96106304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:96106304delT	ENST00000371361.3	-	11	1367	c.1267delA	c.(1267-1269)acafs	p.T423fs	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Frame_Shift_Del_p.T161fs|NOC3L_ENST00000371350.1_Frame_Shift_Del_p.T423fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	423					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CATAAAAATGTTTTTAACATC	0.244																																																	0			10											46.0	45.0	45.0					10																	96106304		2168	4237	6405	96096294	SO:0001589	frameshift_variant	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1267delA	10.37:g.96106304delT	ENSP00000360412:p.Thr423fs		96096294	Q9H5M6|Q9H9D8	Frame_Shift_Del	DEL	ENST00000371361.3	37	CCDS7433.1																																																																																				0.244	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
ZNF518A	9849	hgsc.bcm.edu	37	10	97916340	97916341	+	RNA	DEL	AA	AA	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AA	AA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:97916340_97916341delAA	ENST00000534948.1	+	0	1118_1119							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CTATCAGTATAAAGACTGTAAG	0.337																																																	0			10																																								97906331			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916340_97916341delAA			97906330	A0PJI5|O15044|Q32MP4	Frame_Shift_Del	DEL	ENST00000534948.1	37																																																																																					0.337	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803	
ADD3	120	hgsc.bcm.edu	37	10	111893350	111893350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:111893350delA	ENST00000356080.4	+	15	2462	c.2095delA	c.(2095-2097)aaafs	p.K701fs	ADD3_ENST00000277900.8_Frame_Shift_Del_p.K669fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	701	Interaction with calmodulin. {ECO:0000255}.					cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAAAAGAACAAAAAAAAGGA	0.333																																																	0			10											51.0	59.0	56.0					10																	111893350		2198	4295	6493	111883340	SO:0001589	frameshift_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.2095delA	10.37:g.111893350delA	ENSP00000348381:p.Lys701fs		111883340	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Frame_Shift_Del	DEL	ENST00000356080.4	37	CCDS7561.1																																																																																				0.333	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903	
ECHS1	1892	hgsc.bcm.edu	37	10	135179533	135179534	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr10:135179533_135179534insT	ENST00000368547.3	-	6	1040_1041	c.685_686insA	c.(685-687)attfs	p.I229fs		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	229					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		ATTGCTGGCAATTTTTTCTGCA	0.47																																					GBM(132;1720 1771 5373 10277 21402)												0			10																																								135029524	SO:0001589	frameshift_variant	1892				CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.686dupA	10.37:g.135179539_135179539dupT	ENSP00000357535:p.Ile229fs		135029523	O00739|Q5VWY1|Q96H54	Frame_Shift_Ins	INS	ENST00000368547.3	37	CCDS7681.1																																																																																				0.470	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1		
RRP8	23378	hgsc.bcm.edu	37	11	6622647	6622648	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:6622647_6622648insG	ENST00000254605.6	-	3	765_766	c.648_649insC	c.(646-651)cccacafs	p.T217fs	RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000420936.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	217					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GTCTTCTCTGTGGGGGCCTCAG	0.614																																																	0			11																																								6579224	SO:0001589	frameshift_variant	23378			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.649dupC	11.37:g.6622652_6622652dupG	ENSP00000254605:p.Thr217fs		6579223	Q7KZ78|Q9BVM6	Frame_Shift_Ins	INS	ENST00000254605.6	37	CCDS31411.1																																																																																				0.614	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324	
MRGPRX4	117196	hgsc.bcm.edu	37	11	18195357	18195357	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:18195357delT	ENST00000314254.3	+	1	974	c.554delT	c.(553-555)attfs	p.I185fs	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCGTGGCTGATTTTTTTATGT	0.507																																																	0			11											180.0	173.0	176.0					11																	18195357		2199	4293	6492	18151933	SO:0001589	frameshift_variant	117196			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.554delT	11.37:g.18195357delT	ENSP00000314042:p.Ile185fs		18151933	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Frame_Shift_Del	DEL	ENST00000314254.3	37	CCDS7831.1																																																																																				0.507	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032	
KIF18A	81930	hgsc.bcm.edu	37	11	28119255	28119255	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:28119255delA	ENST00000263181.6	-	2	530	c.240delT	c.(238-240)tttfs	p.F80fs		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	80	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ACGTTTCATCAAAAACAGCAT	0.289																																																	0			11											58.0	57.0	57.0					11																	28119255		2201	4298	6499	28075831	SO:0001589	frameshift_variant	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.240delT	11.37:g.28119255delA	ENSP00000263181:p.Phe80fs		28075831	Q4VPE3|Q86VS5|Q9H0F3	Frame_Shift_Del	DEL	ENST00000263181.6	37	CCDS7867.1																																																																																				0.289	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
SLC3A2	6520	hgsc.bcm.edu	37	11	62649529	62649529	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:62649529delA	ENST00000377890.2	+	5	1060	c.892delA	c.(892-894)aaafs	p.K300fs	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs|SLC3A2_ENST00000377892.1_Frame_Shift_Del_p.K331fs|SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs|SLC3A2_ENST00000536981.1_5'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	300					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGGCTAAAAAAAAGAG	0.463																																																	1	Deletion - Frameshift(1)	ovary(1)	11											73.0	74.0	74.0					11																	62649529		2201	4298	6499	62406105	SO:0001589	frameshift_variant	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.892delA	11.37:g.62649529delA	ENSP00000367122:p.Lys300fs		62406105	Q13543	Frame_Shift_Del	DEL	ENST00000377890.2	37	CCDS8039.2																																																																																				0.463	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661	
RTN3	10313	hgsc.bcm.edu	37	11	63525656	63525656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:63525656delA	ENST00000377819.5	+	9	3236	c.3082delA	c.(3082-3084)aaafs	p.K1030fs	RTN3_ENST00000540798.1_Frame_Shift_Del_p.K918fs|C11orf95_ENST00000433688.1_lincRNA|RTN3_ENST00000341307.2_Frame_Shift_Del_p.Q212fs|RTN3_ENST00000339997.4_Frame_Shift_Del_p.K1011fs|RTN3_ENST00000354497.4_Frame_Shift_Del_p.P146fs|RTN3_ENST00000537981.1_Frame_Shift_Del_p.K234fs|RTN3_ENST00000356000.3_Frame_Shift_Del_p.K253fs	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	1030	Interaction with FADD.|Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGGAATCGCCAAAAAAAAGGC	0.333																																																	0			11											74.0	70.0	71.0					11																	63525656		2201	4298	6499	63282232	SO:0001589	frameshift_variant	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.3082delA	11.37:g.63525656delA	ENSP00000367050:p.Lys1030fs		63282232	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Frame_Shift_Del	DEL	ENST00000377819.5	37	CCDS58141.1																																																																																				0.333	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054	
NRXN2	9379	hgsc.bcm.edu	37	11	64457919	64457919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:64457919delC	ENST00000377551.1	-	4	1019	c.808delG	c.(808-810)gccfs	p.A270fs	NRXN2_ENST00000265459.6_Frame_Shift_Del_p.A270fs|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Frame_Shift_Del_p.A270fs			Q9P2S2	NRX2A_HUMAN	neurexin 2	270					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A270fs*27(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTCTCCCGGCCCCCCCCTCG	0.637																																																	1	Insertion - Frameshift(1)	central_nervous_system(1)	11											37.0	37.0	37.0					11																	64457919		2201	4297	6498	64214495	SO:0001589	frameshift_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.808delG	11.37:g.64457919delC	ENSP00000366774:p.Ala270fs		64214495	A7E2C1|Q9Y2D6	Frame_Shift_Del	DEL	ENST00000377551.1	37	CCDS8077.1																																																																																				0.637	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	
CAPN1	823	hgsc.bcm.edu	37	11	64981481	64981481	+	IGR	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:64981481delC	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CGGCCGCTGTCCCCCCCCACC	0.692																																																	0			11								36,34,3558		4,0,28,0,34,1748	10.0	15.0	13.0			1.9	0.2	11		13	60,55,7653		0,0,60,4,47,3773	no	codingComplex	SLC22A20	NM_001004326.4		4,0,88,4,81,5521	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4804,1.9294,1.6234			64981481	96,89,11211	1934	4121	6055	64738057	SO:0001628	intergenic_variant	440044			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981481delC			64738057	Q2TTR0|Q6DHV4	Frame_Shift_Del	DEL	ENST00000527323.1	37	CCDS44644.1																																																																																				0.692	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1		
CCDC87	55231	hgsc.bcm.edu	37	11	66360164	66360164	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:66360164delT	ENST00000333861.3	-	1	390	c.323delA	c.(322-324)aacfs	p.N109fs	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	109					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTTCTGGTTGTTTTTGTGGCT	0.617											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			11											46.0	50.0	49.0					11																	66360164		2200	4295	6495	66116740	SO:0001589	frameshift_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.323delA	11.37:g.66360164delT	ENSP00000328487:p.Asn109fs	1091	66116740	Q8NE76	Frame_Shift_Del	DEL	ENST00000333861.3	37	CCDS8145.1																																																																																				0.617	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219	
INPPL1	3636	hgsc.bcm.edu	37	11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:71948748delC	ENST00000298229.2	+	26	3664	c.3460delC	c.(3460-3462)cccfs	p.P1155fs	INPPL1_ENST00000538751.1_Frame_Shift_Del_p.P913fs|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Frame_Shift_Del_p.P913fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1155					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGAGCTGCAGCCCCCCCGGGG	0.697																																																	0			11											10.0	12.0	12.0					11																	71948748		2120	4190	6310	71626396	SO:0001589	frameshift_variant	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3460delC	11.37:g.71948748delC	ENSP00000298229:p.Pro1155fs		71626396	B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	ENST00000298229.2	37	CCDS8213.1																																																																																				0.697	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	
POLD3	10714	hgsc.bcm.edu	37	11	74336609	74336609	+	Frame_Shift_Del	DEL	A	A	-	rs375954131		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:74336609delA	ENST00000263681.2	+	8	1019	c.890delA	c.(889-891)gaafs	p.E297fs	POLD3_ENST00000532497.1_Frame_Shift_Del_p.E191fs|POLD3_ENST00000527458.1_Frame_Shift_Del_p.E258fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	297					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CTGCAGAAGGAAAAAAAAAGG	0.458																																																	0			11											27.0	29.0	29.0					11																	74336609		2198	4291	6489	74014257	SO:0001589	frameshift_variant	10714			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.890delA	11.37:g.74336609delA	ENSP00000263681:p.Glu297fs		74014257	B7ZAI6|Q32MZ9|Q32N00	Frame_Shift_Del	DEL	ENST00000263681.2	37	CCDS8233.1																																																																																				0.458	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591	
CCDC67	159989	hgsc.bcm.edu	37	11	93104239	93104240	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:93104239_93104240insA	ENST00000298050.3	+	7	682_683	c.582_583insA	c.(583-585)aaafs	p.K195fs		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	195					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AACTAAATGGTAAAAAACAGTG	0.332																																																	0			11																																								92743888	SO:0001589	frameshift_variant	159989			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.588dupA	11.37:g.93104245_93104245dupA	ENSP00000298050:p.Lys195fs		92743887	Q8NEF1|Q96LL7	Frame_Shift_Ins	INS	ENST00000298050.3	37	CCDS44707.1																																																																																				0.332	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645	
C11orf57	55216	hgsc.bcm.edu	37	11	111953289	111953289	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:111953289delA	ENST00000280352.9	+	6	1108	c.472delA	c.(472-474)aaafs	p.K160fs	C11orf57_ENST00000420986.2_Frame_Shift_Del_p.K160fs|C11orf57_ENST00000532163.1_Frame_Shift_Del_p.K132fs|C11orf57_ENST00000393047.3_Frame_Shift_Del_p.K161fs|TIMM8B_ENST00000507614.1_5'Flank	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	160	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GAAATCCCACAAAAAAAAGCA	0.393																																																	0			11											74.0	80.0	78.0					11																	111953289		2201	4297	6498	111458499	SO:0001589	frameshift_variant	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.472delA	11.37:g.111953289delA	ENSP00000339076:p.Lys160fs		111458499	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Frame_Shift_Del	DEL	ENST00000280352.9	37	CCDS41715.1																																																																																				0.393	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195	
CD3G	917	hgsc.bcm.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	A	-	rs570768621|rs199676861	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118220583delA	ENST00000532917.1	+	3	273	c.205delA	c.(205-207)aaafs	p.K71fs	CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	71	Ig-like.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AACTGAAGATAAAAAAAAATG	0.403													AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion	3	0.000599042	0.0008	0.0014	5008	,	,		19811	0.0		0.001	False		,,,				2504	0.0																0			11	GRCh37	CM983819	CD3G	M							100.0	97.0	98.0					11																	118220583		2200	4296	6496	117725793	SO:0001589	frameshift_variant	445347			X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.205delA	11.37:g.118220583delA	ENSP00000431445:p.Lys71fs		117725793	Q2HIZ6	Frame_Shift_Del	DEL	ENST00000532917.1	37	CCDS8395.1																																																																																				0.403	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073	
KMT2A	4297	hgsc.bcm.edu	37	11	118344186	118344186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118344186delC	ENST00000389506.5	+	3	2312	c.2312delC	c.(2311-2313)accfs	p.T771fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T771fs|KMT2A_ENST00000534358.1_Frame_Shift_Del_p.T771fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	771					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)										TCACCTCTCACCCCCCCGTCT	0.453																																																	0			11											197.0	169.0	178.0					11																	118344186		2200	4296	6496	117849396	SO:0001589	frameshift_variant	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.2312delC	11.37:g.118344186delC	ENSP00000374157:p.Thr771fs		117849396	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	CCDS31686.1																																																																																				0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
BCL9L	283149	hgsc.bcm.edu	37	11	118770652	118770652	+	Frame_Shift_Del	DEL	G	G	-	rs139987150		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118770652delG	ENST00000334801.3	-	7	4344	c.3380delC	c.(3379-3381)ccafs	p.P1130fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1130	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGGTGGTGGTGGGGGGGGCAG	0.706																																																	0			11											35.0	36.0	36.0					11																	118770652		2199	4294	6493	118275862	SO:0001589	frameshift_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3380delC	11.37:g.118770652delG	ENSP00000335320:p.Pro1130fs		118275862	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	CCDS8403.1																																																																																				0.706	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
BCL9L	283149	hgsc.bcm.edu	37	11	118773098	118773098	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:118773098delG	ENST00000334801.3	-	6	2318	c.1354delC	c.(1354-1356)cagfs	p.Q453fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	453	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.Q452fs*11(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTGGCTGCTGGGGGGGAGGG	0.682																																																	2	Deletion - Frameshift(2)	large_intestine(2)	11											13.0	17.0	16.0					11																	118773098		1652	3527	5179	118278308	SO:0001589	frameshift_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1354delC	11.37:g.118773098delG	ENSP00000335320:p.Gln453fs		118278308	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	CCDS8403.1																																																																																				0.682	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
C1QTNF5	114902	hgsc.bcm.edu	37	11	119210190	119210190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:119210190delC	ENST00000528368.1	-	3	814	c.583delG	c.(583-585)gccfs	p.A195fs	RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000525657.1_5'UTR|C1QTNF5_ENST00000445041.2_Frame_Shift_Del_p.A195fs|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	195	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTCACCATGGCCCCCCCCGAG	0.587																																																	0			11							,	38,8,4218		0,0,38,2,4,2088	82.0	75.0	77.0		,	4.4	1.0	11		78	16,14,8224		0,0,16,5,4,4102	no	utr-3,codingComplex	MFRP,C1QTNF5	NM_031433.2,NM_015645.3	,	0,0,54,7,8,6190	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,1.0788,0.6071	,	,	119210190	54,22,12442	2199	4295	6494	118715400	SO:0001589	frameshift_variant	114902			AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 5"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 3"""	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.583delG	11.37:g.119210190delC	ENSP00000431140:p.Ala195fs		118715400	A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Frame_Shift_Del	DEL	ENST00000528368.1	37	CCDS8420.1																																																																																				0.587	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388354.1	NM_015645	
OR10G9	219870	hgsc.bcm.edu	37	11	123894346	123894347	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:123894346_123894347insT	ENST00000375024.1	+	1	627_628	c.627_628insT	c.(628-630)tttfs	p.F210fs		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTCGGGCTGCTTTCTCCTGAT	0.554																																																	0			11																																								123399557	SO:0001589	frameshift_variant	219870			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.630dupT	11.37:g.123894349_123894349dupT	ENSP00000364164:p.Phe210fs		123399556		Frame_Shift_Ins	INS	ENST00000375024.1	37	CCDS31703.1																																																																																				0.554	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953	
SRPR	6734	hgsc.bcm.edu	37	11	126137087	126137087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr11:126137087delT	ENST00000332118.6	-	4	663	c.509delA	c.(508-510)aagfs	p.K170fs	FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	170					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K170fs*33(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTGGCCCCCTTTTTTTTGCT	0.438																																																	2	Deletion - Frameshift(2)	ovary(2)	11											347.0	340.0	342.0					11																	126137087		2201	4299	6500	125642297	SO:0001589	frameshift_variant	6734			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.509delA	11.37:g.126137087delT	ENSP00000328023:p.Lys170fs		125642297	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Del	DEL	ENST00000332118.6	37	CCDS31717.1																																																																																				0.438	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139	
CD69	969	hgsc.bcm.edu	37	12	9906143	9906144	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:9906143_9906144insT	ENST00000228434.3	-	5	613_614	c.533_534insA	c.(532-534)aacfs	p.N178fs		NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	178	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						TGACCTCTGTGTTTTTCAGAAA	0.317																																																	0			12																																								9797411	SO:0001589	frameshift_variant	969			Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.534dupA	12.37:g.9906148_9906148dupT	ENSP00000228434:p.Asn178fs		9797410		Frame_Shift_Ins	INS	ENST00000228434.3	37	CCDS8604.1																																																																																				0.317	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1		
TAS2R10	50839	hgsc.bcm.edu	37	12	10978281	10978282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:10978281_10978282insA	ENST00000240619.2	-	1	675_676	c.587_588insT	c.(586-588)ttafs	p.L196fs		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	196					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATACA	0.347																																																	0			12																																								10869549	SO:0001589	frameshift_variant	50839			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.588dupT	12.37:g.10978288_10978288dupA	ENSP00000240619:p.Leu196fs		10869548	Q3MIM9|Q6NTD9	Frame_Shift_Ins	INS	ENST00000240619.2	37	CCDS8634.1																																																																																				0.347	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1		
SLCO1B7	338821	hgsc.bcm.edu	37	12	21175856	21175856	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:21175856delA	ENST00000421593.2	+	4	413	c.413delA	c.(412-414)gaafs	p.E138fs	LST3_ENST00000381541.3_Frame_Shift_Del_p.E185fs|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Frame_Shift_Del_p.E185fs|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGCATAGGGGAAACCCCCATA	0.373																																																	0			12											134.0	133.0	133.0					12																	21175856		2203	4300	6503	21067123	SO:0001589	frameshift_variant	338821			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.413delA	12.37:g.21175856delA	ENSP00000394168:p.Glu138fs		21067123	Q71QF0	Frame_Shift_Del	DEL	ENST00000421593.2	37	CCDS44843.1																																																																																				0.373	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
RECQL	5965	hgsc.bcm.edu	37	12	21644547	21644547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:21644547delT	ENST00000444129.2	-	3	588	c.120delA	c.(118-120)aaafs	p.K40fs	RECQL_ENST00000421138.2_Frame_Shift_Del_p.K40fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	40					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V41fs*2(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGTCAGGACTTTTTTTTTCT	0.383								Other identified genes with known or suspected DNA repair function																																									1	Deletion - Frameshift(1)	large_intestine(1)	12											54.0	52.0	53.0					12																	21644547		2203	4300	6503	21535814	SO:0001589	frameshift_variant	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.120delA	12.37:g.21644547delT	ENSP00000416739:p.Lys40fs		21535814	A8K6G2	Frame_Shift_Del	DEL	ENST00000444129.2	37	CCDS31756.1																																																																																				0.383	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907	
TM7SF3	51768	hgsc.bcm.edu	37	12	27149701	27149701	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:27149701delA	ENST00000343028.4	-	4	717	c.492delT	c.(490-492)tttfs	p.F164fs	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	164						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TTGCTGGGGCAAACTTGATAG	0.418																																																	0			12											80.0	75.0	77.0					12																	27149701		2203	4300	6503	27040968	SO:0001589	frameshift_variant	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.492delT	12.37:g.27149701delA	ENSP00000342322:p.Phe164fs		27040968	B3KMZ3|Q9NUS4	Frame_Shift_Del	DEL	ENST00000343028.4	37	CCDS8710.1																																																																																				0.418	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551	
KRT83	3889	hgsc.bcm.edu	37	12	52714899	52714899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:52714899delC	ENST00000293670.3	-	1	283	c.221delG	c.(220-222)ggcfs	p.G74fs		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	74	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCGCACACGCCCCCGGAGCG	0.706																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)												0			12											51.0	56.0	55.0					12																	52714899		2203	4300	6503	51001166	SO:0001589	frameshift_variant	3889			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.221delG	12.37:g.52714899delC	ENSP00000293670:p.Gly74fs		51001166	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Frame_Shift_Del	DEL	ENST00000293670.3	37	CCDS8823.1																																																																																				0.706	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282	
MAP3K12	7786	hgsc.bcm.edu	37	12	53877706	53877708	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CCT	CCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:53877706_53877708delCCT	ENST00000267079.2	-	9	1471_1473	c.1246_1248delAGG	c.(1246-1248)aggdel	p.R416del	MAP3K12_ENST00000547035.1_In_Frame_Del_p.R449del|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_In_Frame_Del_p.R449del	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	416					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGAGCTCCTCCCTCCTCCTCATC	0.542																																																	0			12																																								52163975	SO:0001651	inframe_deletion	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1246_1248delAGG	12.37:g.53877712_53877714delCCT	ENSP00000267079:p.Arg416del		52163973	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	In_Frame_Del	DEL	ENST00000267079.2	37	CCDS8860.1																																																																																				0.542	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	
OR6C75	390323	hgsc.bcm.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393																																																	1	Deletion - Frameshift(1)	large_intestine(1)	12											154.0	133.0	140.0					12																	55759486		2203	4300	6503	54045753	SO:0001589	frameshift_variant	390323				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.592delT	12.37:g.55759486delT	ENSP00000368987:p.Phe199fs		54045753		Frame_Shift_Del	DEL	ENST00000343399.3	37	CCDS31820.1																																																																																				0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
MYO1A	4640	hgsc.bcm.edu	37	12	57422573	57422573	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:57422573delT	ENST00000442789.2	-	29	3385	c.3098delA	c.(3097-3099)aagfs	p.K1033fs	MYO1A_ENST00000300119.3_Frame_Shift_Del_p.K1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Del_p.K871fs|TAC3_ENST00000415231.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGACTCCCCTTTTTTTTGTA	0.557																																																	1	Unknown(1)	skin(1)	12											230.0	188.0	202.0					12																	57422573		2203	4300	6503	55708840	SO:0001589	frameshift_variant	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3098delA	12.37:g.57422573delT	ENSP00000393392:p.Lys1033fs		55708840	Q9UQD7	Frame_Shift_Del	DEL	ENST00000442789.2	37	CCDS8929.1																																																																																				0.557	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
GLI1	2735	hgsc.bcm.edu	37	12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-	rs368789621		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:57860075delG	ENST00000228682.2	+	8	906	c.815delG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Del_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Del_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTGCCACTGGGGGGGCTGC	0.597																																					Pancreas(157;841 1936 10503 41495 50368)												0			12											128.0	124.0	126.0					12																	57860075		2203	4300	6503	56146342	SO:0001589	frameshift_variant	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.815delG	12.37:g.57860075delG	ENSP00000228682:p.Trp272fs		56146342	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Del	DEL	ENST00000228682.2	37	CCDS8940.1																																																																																				0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
APAF1	317	hgsc.bcm.edu	37	12	99071207	99071207	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:99071207delA	ENST00000551964.1	+	13	2534	c.1798delA	c.(1798-1800)aaafs	p.K601fs	APAF1_ENST00000547045.1_Frame_Shift_Del_p.K601fs|APAF1_ENST00000550527.1_Frame_Shift_Del_p.K590fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K590fs|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Frame_Shift_Del_p.K601fs|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Frame_Shift_Del_p.K601fs|APAF1_ENST00000357310.1_Frame_Shift_Del_p.K601fs	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	601					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.N602fs*23(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATTTAGAAACAAAAAAAACAT	0.348																																																	1	Deletion - Frameshift(1)	large_intestine(1)	12											59.0	53.0	55.0					12																	99071207		2203	4300	6503	97595338	SO:0001589	frameshift_variant	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1798delA	12.37:g.99071207delA	ENSP00000448165:p.Lys601fs		97595338	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Frame_Shift_Del	DEL	ENST00000551964.1	37	CCDS9069.1																																																																																				0.348	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
SELPLG	6404	hgsc.bcm.edu	37	12	109017651	109017680	+	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	rs200527674|rs540144714|rs368721402|rs63748999|rs372173288|rs201851784|rs377406736|rs200694582|rs200732108|rs199985195|rs558357966	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:109017651_109017680delGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	ENST00000550948.1	-	2	628_657	c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	c.(403-435)caaccagtgcccacggaggcacagaccactcca>cca	p.QPVPTEAQTT135del	SELPLG_ENST00000388962.3_Splice_Site_p.NQCPR131del|SELPLG_ENST00000228463.6_In_Frame_Del_p.QPVPTEAQTT151del			Q14242	SELPL_HUMAN	selectin P ligand	135	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505206}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.Q135P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGCCAGTGGAGTGGTCTGTGCCTCCGTGGGCACTGGTTGAGTGGTCTG	0.617														558	0.111422	0.0817	0.0879	5008	,	,		27757	0.13		0.0835	False		,,,				2504	0.1779																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12							,	500,3762		33,434,1664					,	-2.0	0.0		dbSNP_129	146	1398,6854		132,1134,2860	no	coding,coding	SELPLG	NM_003006.4,NM_001206609.1	,	165,1568,4524	A1A1,A1R,RR		16.9413,11.7316,15.167	,	,		1898,10616				107541809	SO:0001651	inframe_deletion	6404				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	12.37:g.109017651_109017680delGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	ENSP00000447752:p.Gln135_Thr144del		107541780	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Frame_Shift_Del	DEL	ENST00000550948.1	37	CCDS31895.2																																																																																				0.617	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1		
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	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	
SETD1B	23067	hgsc.bcm.edu	37	12	122242658	122242658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:122242658delC	ENST00000604567.1	+	2	83	c.15delC	c.(13-15)cacfs	p.H5fs	SETD1B_ENST00000267197.5_Frame_Shift_Del_p.H5fs|RHOF_ENST00000545544.1_5'Flank|SETD1B_ENST00000542440.1_Frame_Shift_Del_p.H5fs|RP11-347I19.8_ENST00000609067.1_lincRNA			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	5					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H8fs*27(2)		NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						AGAACAGTCACCCCCCCCACC	0.632																																																	2	Deletion - Frameshift(2)	large_intestine(2)	12											37.0	44.0	42.0					12																	122242658		692	1591	2283	120727041	SO:0001589	frameshift_variant	23067			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.15delC	12.37:g.122242658delC	ENSP00000474253:p.His5fs		120727041	F6MFW1	Frame_Shift_Del	DEL	ENST00000604567.1	37																																																																																					0.632	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000468264.1	XM_037523	
ABCB9	23457	hgsc.bcm.edu	37	12	123424719	123424719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr12:123424719delC	ENST00000542678.1	-	9	4520	c.1682delG	c.(1681-1683)ggcfs	p.G561fs	ABCB9_ENST00000346530.5_Frame_Shift_Del_p.G518fs|ABCB9_ENST00000280560.8_Frame_Shift_Del_p.G561fs|ABCB9_ENST00000540285.1_Frame_Shift_Del_p.G498fs|ABCB9_ENST00000344275.7_Frame_Shift_Del_p.G561fs|ABCB9_ENST00000442028.2_Frame_Shift_Del_p.G561fs|ABCB9_ENST00000392439.3_Frame_Shift_Del_p.G561fs|ABCB9_ENST00000442833.2_Frame_Shift_Del_p.G561fs|ABCB9_ENST00000541983.1_5'UTR			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	561	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CAGCACCCGGCCCCCCTCCAG	0.657																																					Ovarian(49;786 1333 9175 38236)												0			12											26.0	27.0	27.0					12																	123424719		2203	4299	6502	121990672	SO:0001589	frameshift_variant	23457			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1682delG	12.37:g.123424719delC	ENSP00000440288:p.Gly561fs		121990672	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Frame_Shift_Del	DEL	ENST00000542678.1	37	CCDS9241.1																																																																																				0.657	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624	
IFT88	8100	hgsc.bcm.edu	37	13	21170297	21170297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:21170297delA	ENST00000319980.6	+	10	761	c.434delA	c.(433-435)gaafs	p.E145fs	IFT88_ENST00000351808.5_Frame_Shift_Del_p.E136fs|IFT88_ENST00000382778.4_Frame_Shift_Del_p.E145fs|IFT88_ENST00000537103.1_Frame_Shift_Del_p.E117fs	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	145					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGCCCAGAGGAAAAAATAAAG	0.259																																																	0			13											67.0	70.0	69.0					13																	21170297		2203	4295	6498	20068297	SO:0001589	frameshift_variant	8100			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.434delA	13.37:g.21170297delA	ENSP00000323580:p.Glu145fs		20068297	A2A491|B4DUS2|Q5SZJ6|Q8N719	Frame_Shift_Del	DEL	ENST00000319980.6	37	CCDS31944.1																																																																																				0.259	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531	
RNF6	6049	hgsc.bcm.edu	37	13	26788240	26788241	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:26788240_26788241insA	ENST00000381588.4	-	5	2530_2531	c.1778_1779insT	c.(1777-1779)ttafs	p.L593fs	RNF6_ENST00000399762.2_Frame_Shift_Ins_p.L237fs|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Frame_Shift_Ins_p.L593fs|RNF6_ENST00000346166.3_Frame_Shift_Ins_p.L593fs	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	593					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTTCATTTAGTAAAAAAAAGTG	0.406																																																	0			13																																								25686241	SO:0001589	frameshift_variant	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1779dupT	13.37:g.26788248_26788248dupA	ENSP00000371000:p.Leu593fs		25686240	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Frame_Shift_Ins	INS	ENST00000381588.4	37	CCDS9316.1																																																																																				0.406	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977	
BRCA2	675	hgsc.bcm.edu	37	13	32913559	32913559	+	Frame_Shift_Del	DEL	A	A	-	rs80359479|rs80359481		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:32913559delA	ENST00000380152.3	+	11	5300	c.5067delA	c.(5065-5067)gcafs	p.A1689fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.A1689fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1689	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TACTTGAAGCAAAAAAATGGC	0.313			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			13								17,4187		1,15,2086	36.0	39.0	38.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		3.9	1.0	13	dbSNP_132	38	14,8208		1,12,4098	no	frameshift	BRCA2	NM_000059.3		2,27,6184	A1A1,A1R,RR		0.1703,0.4044,0.2495			32913559	31,12395	2181	4286	6467	31811559	SO:0001589	frameshift_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5067delA	13.37:g.32913559delA	ENSP00000369497:p.Ala1689fs		31811559	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	CCDS9344.1																																																																																				0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
KL	9365	hgsc.bcm.edu	37	13	33635594	33635594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:33635594delA	ENST00000380099.3	+	4	2386	c.2378delA	c.(2377-2379)gaafs	p.E793fs	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	793	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACTGAAGATGAAAAAAAGCTA	0.393																																																	0			13											64.0	65.0	65.0					13																	33635594		2203	4300	6503	32533594	SO:0001589	frameshift_variant	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2378delA	13.37:g.33635594delA	ENSP00000369442:p.Glu793fs		32533594	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Frame_Shift_Del	DEL	ENST00000380099.3	37	CCDS9347.1																																																																																				0.393	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		
MRPS31	10240	hgsc.bcm.edu	37	13	41341161	41341161	+	Frame_Shift_Del	DEL	T	T	-	rs556043646		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:41341161delT	ENST00000323563.6	-	2	197	c.161delA	c.(160-162)aatfs	p.N55fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	55						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TTGGATGTTATTTTTTGTCCT	0.323																																																	0			13											51.0	49.0	50.0					13																	41341161		2202	4298	6500	40239161	SO:0001589	frameshift_variant	10240			Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.161delA	13.37:g.41341161delT	ENSP00000315397:p.Asn55fs		40239161	B2RCS3|Q5VYC8|Q8WTV8	Frame_Shift_Del	DEL	ENST00000323563.6	37	CCDS9372.1																																																																																				0.323	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2		
COG3	83548	hgsc.bcm.edu	37	13	46085968	46085969	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:46085968_46085969delAG	ENST00000349995.5	+	16	1900_1901	c.1788_1789delAG	c.(1786-1791)tcagagfs	p.E597fs	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	597					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTGGAGCGTCAGAGTCTATCAG	0.406																																					Ovarian(150;1048 1859 18083 21577 42700)												0			13																																								44983970	SO:0001589	frameshift_variant	83548			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1788_1789delAG	13.37:g.46085970_46085971delAG	ENSP00000258654:p.Glu597fs		44983969	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Frame_Shift_Del	DEL	ENST00000349995.5	37	CCDS9398.1																																																																																				0.406	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2		
ERICH6B	220081	hgsc.bcm.edu	37	13	46170720	46170737	+	In_Frame_Del	DEL	CCAGATACTCTTCCTCCT	CCAGATACTCTTCCTCCT	-	rs373081063|rs117004691|rs28548352|rs142875900|rs28460344|rs45625342|rs375947127	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CCAGATACTCTTCCTCCT	CCAGATACTCTTCCTCCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:46170720_46170737delCCAGATACTCTTCCTCCT	ENST00000298738.2	-	3	568_585	c.404_421delAGGAGGAAGAGTATCTGG	c.(403-423)gaggaggaagagtatctgggg>ggg	p.EEEEYL135del		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		135	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						CCTTCCTTCCCCAGATActcttcctcctccagatgctc	0.486														1379	0.275359	0.1362	0.4308	5008	,	,		23489	0.1607		0.493	False		,,,				2504	0.2474																0			13								414,2088		68,278,905						-4.5	0.0		dbSNP_134	119	2412,2596		704,1004,796	no	coding	FAM194B	NM_182542.2		772,1282,1701	A1A1,A1R,RR		48.1629,16.5468,37.6298				2826,4684				45068738	SO:0001651	inframe_deletion	0																														ENST00000298738.2:c.404_421delAGGAGGAAGAGTATCTGG	13.37:g.46170720_46170737delCCAGATACTCTTCCTCCT	ENSP00000298738:p.Glu135_Leu140del		45068721	Q96MB5	In_Frame_Del	DEL	ENST00000298738.2	37	CCDS45045.1																																																																																				0.486	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044781.3		
CKAP2	26586	hgsc.bcm.edu	37	13	53049034	53049034	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr13:53049034delA	ENST00000378037.5	+	9	1900	c.1810delA	c.(1810-1812)aaafs	p.K606fs	CKAP2_ENST00000490903.1_Frame_Shift_Del_p.K557fs|CKAP2_ENST00000258607.5_Frame_Shift_Del_p.K605fs	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.K605fs*14(2)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TTTCAGTGTGAAAAAAAAGGT	0.318																																																	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	13											38.0	38.0	38.0					13																	53049034		2203	4300	6503	51947035	SO:0001589	frameshift_variant	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1810delA	13.37:g.53049034delA	ENSP00000367276:p.Lys606fs		51947035		Frame_Shift_Del	DEL	ENST00000378037.5	37	CCDS41893.1																																																																																				0.318	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2		
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG|RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783																0			14																																								52689231	SO:0001652	inframe_insertion	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup		52689230	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	ENST00000323669.5	37	CCDS53895.1																																																																																				0.703	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
AKAP5	9495	hgsc.bcm.edu	37	14	64935520	64935520	+	Frame_Shift_Del	DEL	A	A	-	rs559697318		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:64935520delA	ENST00000394718.4	+	2	786	c.408delA	c.(406-408)ccafs	p.P136fs	AKAP5_ENST00000320636.5_Frame_Shift_Del_p.P136fs|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	136	Essential to the intracellular anchoring function. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CAAGAGGGCCAAAAAGGAGTA	0.383																																																	0			14											99.0	111.0	107.0					14																	64935520		2203	4300	6503	64005273	SO:0001589	frameshift_variant	9495			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.408delA	14.37:g.64935520delA	ENSP00000378207:p.Pro136fs		64005273	A2RRB8	Frame_Shift_Del	DEL	ENST00000394718.4	37	CCDS9764.1																																																																																				0.383	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3		
ELMSAN1	91748	hgsc.bcm.edu	37	14	74196464	74196464	+	Frame_Shift_Del	DEL	G	G	-	rs537089743		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr14:74196464delG	ENST00000286523.5	-	4	2756	c.1974delC	c.(1972-1974)cccfs	p.P658fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P658fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGCTGAGGATGGGGGGCGGCG	0.627																																																	0			14											69.0	63.0	65.0					14																	74196464		2203	4300	6503	73266217	SO:0001589	frameshift_variant	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1974delC	14.37:g.74196464delG	ENSP00000286523:p.Pro658fs		73266217	Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	ENST00000286523.5	37	CCDS9819.1																																																																																				0.627	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278	
POTEB2	100287399	hgsc.bcm.edu	37	15	21066721	21066721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:21066721delT	ENST00000454856.4	-	2	540	c.508delA	c.(508-510)aggfs	p.R170fs		NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	170																	AGAGCTGTCCTTTTTTTGTTG	0.378																																																	0			15											0.0	1.0	1.0					15																	21066721		0	1	1	19331300	SO:0001589	frameshift_variant	339010				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.508delA	15.37:g.21066721delT	ENSP00000456953:p.Arg170fs		19331300		Frame_Shift_Del	DEL	ENST00000454856.4	37	CCDS59248.1																																																																																				0.378	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
NIPA2	81614	hgsc.bcm.edu	37	15	23021239	23021239	+	Frame_Shift_Del	DEL	T	T	-	rs532440024|rs145147241		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:23021239delT	ENST00000337451.3	-	4	710	c.98delA	c.(97-99)aagfs	p.K33fs	NIPA2_ENST00000398014.2_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000398013.3_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000359727.4_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000539711.2_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000559571.1_5'Flank	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	33						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AAGGAGGCCCTTTTTTTTCAA	0.448																																																	0			15											131.0	133.0	133.0					15																	23021239		2203	4300	6503	20572680	SO:0001589	frameshift_variant	81614			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.98delA	15.37:g.23021239delT	ENSP00000337618:p.Lys33fs		20572680	F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Del	DEL	ENST00000337451.3	37	CCDS10010.1																																																																																				0.448	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922	
FMN1	342184	hgsc.bcm.edu	37	15	33261041	33261041	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:33261041delG	ENST00000559047.1	-	5	2860	c.2861delC	c.(2860-2862)ccafs	p.P957fs	FMN1_ENST00000334528.9_Frame_Shift_Del_p.P734fs|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Frame_Shift_Del_p.P859fs			Q68DA7	FMN1_HUMAN	formin 1	957	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGGGGGAGGTGGGGGTGCAAG	0.612																																																	0			15											41.0	42.0	42.0					15																	33261041		1790	4039	5829	31048333	SO:0001589	frameshift_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2861delC	15.37:g.33261041delG	ENSP00000454047:p.Pro957fs		31048333	Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Del	DEL	ENST00000559047.1	37																																																																																					0.612	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
MGA	23269	hgsc.bcm.edu	37	15	42046641	42046642	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	TG	TG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:42046641_42046642delTG	ENST00000570161.1	+	17	7015_7016	c.7015_7016delTG	c.(7015-7017)tgtfs	p.C2339fs	MGA_ENST00000545763.1_Frame_Shift_Del_p.C2130fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.C2300fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.C2130fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.C2339fs			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)	TCAGAATAACTGTGTAGAATAC	0.381																																																	0			15																																								39833934	SO:0001589	frameshift_variant	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.7015_7016delTG	15.37:g.42046643_42046644delTG	ENSP00000457035:p.Cys2339fs		39833933	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	CCDS55959.1																																																																																				0.381	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
DMXL2	23312	hgsc.bcm.edu	37	15	51857323	51857323	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:51857323delA	ENST00000251076.5	-	4	613	c.326delT	c.(325-327)ttgfs	p.L109fs	DMXL2_ENST00000543779.2_Frame_Shift_Del_p.L109fs|DMXL2_ENST00000449909.3_Frame_Shift_Del_p.L109fs|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	109						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CACAGAACTCAAAAAAAACTG	0.269																																																	0			15											31.0	31.0	31.0					15																	51857323		2195	4292	6487	49644615	SO:0001589	frameshift_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.326delT	15.37:g.51857323delA	ENSP00000251076:p.Leu109fs		49644615	B2RTR3|B7ZMH3|F5GWF1|O94938	Frame_Shift_Del	DEL	ENST00000251076.5	37	CCDS10141.1																																																																																				0.269	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
SLTM	79811	hgsc.bcm.edu	37	15	59186310	59186310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:59186310delT	ENST00000380516.2	-	11	1547	c.1460delA	c.(1459-1461)aatfs	p.N487fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.N56fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	487					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATCACTCGTATTTTTTTTATC	0.299																																																	0			15											108.0	100.0	103.0					15																	59186310		2190	4290	6480	56973602	SO:0001589	frameshift_variant	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1460delA	15.37:g.59186310delT	ENSP00000369887:p.Asn487fs		56973602	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	CCDS10168.2																																																																																				0.299	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	
ICE2	79664	hgsc.bcm.edu	37	15	60768348	60768349	+	De_novo_Start_OutOfFrame	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:60768348_60768349insT	ENST00000439632.1	-	0	293_294				NARG2_ENST00000561114.1_Frame_Shift_Ins_p.N20fs|NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000261520.4_Frame_Shift_Ins_p.N20fs	NM_001018089.1	NP_001018099.1														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCTTAAGGCCATTTTTGGGGGA	0.317																																																	0			15																																								58555641			79664																														ENST00000439632.1:c.-193->A	15.37:g.60768353_60768353dupT			58555640		Frame_Shift_Ins	INS	ENST00000439632.1	37																																																																																					0.317	NARG2-201	KNOWN	basic	protein_coding	protein_coding			
MESDC2	23184	hgsc.bcm.edu	37	15	81271633	81271633	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:81271633delT	ENST00000261758.4	-	3	718	c.632delA	c.(631-633)aagfs	p.K212fs	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	212					mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.K211fs*6(1)		cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TCCTTCCTTCTTTTTTTTGCC	0.493																																																	1	Deletion - Frameshift(1)	ovary(1)	15											75.0	78.0	77.0					15																	81271633		2203	4300	6503	79058688	SO:0001589	frameshift_variant	23184			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.632delA	15.37:g.81271633delT	ENSP00000261758:p.Lys212fs		79058688	B4DW84|D3DW96|Q969U1	Frame_Shift_Del	DEL	ENST00000261758.4	37	CCDS32308.1																																																																																				0.493	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154	
BNC1	646	hgsc.bcm.edu	37	15	83935798	83935798	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:83935798delG	ENST00000345382.2	-	3	310	c.225delC	c.(223-225)cccfs	p.P75fs	BNC1_ENST00000569704.1_Frame_Shift_Del_p.P68fs|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	75					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTGGATACATGGGGGGGATCC	0.423																																																	0			15											51.0	50.0	51.0					15																	83935798		2203	4300	6503	81726802	SO:0001589	frameshift_variant	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.225delC	15.37:g.83935798delG	ENSP00000307041:p.Pro75fs		81726802	Q15840	Frame_Shift_Del	DEL	ENST00000345382.2	37	CCDS10324.1																																																																																				0.423	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
IQGAP1	8826	hgsc.bcm.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr15:91019925delA	ENST00000268182.5	+	24	2939	c.2815delA	c.(2815-2817)aaafs	p.K940fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	940					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363																																																	0			15											105.0	121.0	116.0					15																	91019925		2198	4298	6496	88820929	SO:0001589	frameshift_variant	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2815delA	15.37:g.91019925delA	ENSP00000268182:p.Lys940fs		88820929	A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	CCDS10362.1																																																																																				0.363	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
GLIS2	84662	hgsc.bcm.edu	37	16	4384871	4384871	+	Frame_Shift_Del	DEL	G	G	-	rs147175353	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:4384871delG	ENST00000262366.3	+	5	1236	c.415delG	c.(415-417)gggfs	p.G140fs	GLIS2_ENST00000433375.1_Frame_Shift_Del_p.G140fs|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	140	Interaction with CTNND1. {ECO:0000250}.				cell differentiation (GO:0030154)|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)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.G139R(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTCGGCTCCGGGGGGGCCCT	0.657																																																	1	Substitution - Missense(1)	prostate(1)	16											45.0	55.0	51.0					16																	4384871		2197	4299	6496	4324872	SO:0001589	frameshift_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.415delG	16.37:g.4384871delG	ENSP00000262366:p.Gly140fs		4324872	B3KX84	Frame_Shift_Del	DEL	ENST00000262366.3	37	CCDS10511.1																																																																																				0.657	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575	
CRYM	1428	hgsc.bcm.edu	37	16	21289437	21289437	+	Frame_Shift_Del	DEL	C	C	-	rs571066423		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:21289437delC	ENST00000219599.3	-	3	401	c.136delG	c.(136-138)gtgfs	p.V46fs	CRYM_ENST00000574787.1_5'Flank|CRYM_ENST00000415987.2_Frame_Shift_Del_p.V4fs|CRYM_ENST00000543948.1_Frame_Shift_Del_p.V46fs|CRYM_ENST00000396023.2_Frame_Shift_Del_p.V46fs	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	46					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		ACGGTGCGCACGGGCTGCATG	0.662											OREG0023670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			16											25.0	22.0	23.0					16																	21289437		2105	4133	6238	21196938	SO:0001589	frameshift_variant	1428				CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.136delG	16.37:g.21289437delC	ENSP00000219599:p.Val46fs	747	21196938	D5MNX0|Q5HYB7	Frame_Shift_Del	DEL	ENST00000219599.3	37	CCDS10597.1																																																																																				0.662	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1		
RBBP6	5930	hgsc.bcm.edu	37	16	24582954	24582954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:24582954delA	ENST00000319715.4	+	18	4999	c.4567delA	c.(4567-4569)aaafs	p.K1524fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.K684fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.K1490fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1524	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGATTTGCCTAAAAAAGGAAC	0.368																																																	0			16											37.0	37.0	37.0					16																	24582954		2197	4297	6494	24490455	SO:0001589	frameshift_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4567delA	16.37:g.24582954delA	ENSP00000317872:p.Lys1524fs		24490455	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	CCDS10621.1																																																																																				0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
IL21R	50615	hgsc.bcm.edu	37	16	27455913	27455913	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:27455913delC	ENST00000337929.3	+	6	1031	c.558delC	c.(556-558)ctcfs	p.L186fs	IL21R_ENST00000564089.1_Frame_Shift_Del_p.L186fs|IL21R_ENST00000395754.4_Frame_Shift_Del_p.L186fs|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Frame_Shift_Del_p.L186fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	186	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCTCCCTCCTCCCCCTGGAGT	0.592			T	BCL6	NHL																																			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16											86.0	78.0	80.0					16																	27455913		2197	4300	6497	27363414	SO:0001589	frameshift_variant	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.558delC	16.37:g.27455913delC	ENSP00000338010:p.Leu186fs		27363414	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Frame_Shift_Del	DEL	ENST00000337929.3	37	CCDS10630.1																																																																																				0.592	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
ASPHD1	253982	hgsc.bcm.edu	37	16	29912629	29912629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:29912629delG	ENST00000308748.5	+	1	589	c.337delG	c.(337-339)gggfs	p.G114fs	SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank|SEZ6L2_ENST00000308713.5_5'Flank|ASPHD1_ENST00000483405.1_Intron|SEZ6L2_ENST00000350527.3_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	114	Gly-rich.				peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GAGCCGAGCTGGGGGTGTTCG	0.682																																																	0			16											32.0	39.0	37.0					16																	29912629		2129	4227	6356	29820130	SO:0001589	frameshift_variant	253982			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.337delG	16.37:g.29912629delG	ENSP00000311447:p.Gly114fs		29820130	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Frame_Shift_Del	DEL	ENST00000308748.5	37	CCDS10660.1																																																																																				0.682	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718	
INO80E	283899	hgsc.bcm.edu	37	16	30016653	30016653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:30016653delC	ENST00000563197.1	+	7	1642	c.625delC	c.(625-627)cccfs	p.P211fs	INO80E_ENST00000567705.1_Frame_Shift_Del_p.P194fs|INO80E_ENST00000304516.7_Frame_Shift_Del_p.P172fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	211	Pro-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.T212fs*3(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CCCTAAGATGCCCCCCCCCAC	0.672																																																	1	Deletion - Frameshift(1)	large_intestine(1)	16								76,238,3860		1,0,74,7,224,1781	15.0	13.0	13.0			4.9	1.0	16		13	126,491,7513		2,2,120,10,469,3462	no	codingComplex	INO80E	NM_173618.1		3,2,194,17,693,5243	A1A1,A1A2,A1R,A2A2,A2R,RR		7.5892,7.5228,7.5666			30016653	202,729,11373	2173	4255	6428	29924154	SO:0001589	frameshift_variant	283899			AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.625delC	16.37:g.30016653delC	ENSP00000457016:p.Pro211fs		29924154	Q6Y2K3	Frame_Shift_Del	DEL	ENST00000563197.1	37	CCDS10665.1																																																																																				0.672	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618	
CCDC79	283847	hgsc.bcm.edu	37	16	66824895	66824897	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AAT	AAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:66824895_66824897delAAT	ENST00000558713.2	-	3	129_131	c.57_59delATT	c.(55-60)ttattg>ttg	p.19_20LL>L	CCDC79_ENST00000415744.1_In_Frame_Del_p.19_20LL>L|CCDC79_ENST00000432602.1_In_Frame_Del_p.19_20LL>L|CCDC79_ENST00000433154.1_In_Frame_Del_p.19_20LL>L|CCDC79_ENST00000561333.1_5'UTR|CCDC79_ENST00000433574.1_In_Frame_Del_p.19_20LL>L			Q8NA31	TERB1_HUMAN	coiled-coil domain containing 79	19					meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						TAGACACTCCAATAATAAGTTCA	0.281																																																	0			16																																								65382398	SO:0001651	inframe_deletion	283847			AK093213		16q22.1	2012-10-03			ENSG00000249961	ENSG00000249961			26675	protein-coding gene	gene with protein product							Standard	NM_001136505		Approved	FLJ35894	uc010viv.2	Q8NA31	OTTHUMG00000133562	ENST00000558713.2:c.57_59delATT	16.37:g.66824898_66824900delAAT	ENSP00000462883:p.Leu20del		65382396	A0AUW1	In_Frame_Del	DEL	ENST00000558713.2	37																																																																																					0.281	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000418864.2		
OSGIN1	29948	hgsc.bcm.edu	37	16	83999526	83999526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:83999526delG	ENST00000343939.2	+	7	1980	c.1597delG	c.(1597-1599)gggfs	p.G533fs	OSGIN1_ENST00000361711.3_Frame_Shift_Del_p.G450fs|OSGIN1_ENST00000393306.1_Frame_Shift_Del_p.G450fs|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	533					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GCCGCTGGCCGGGGACAACTT	0.657																																																	0			16											20.0	20.0	20.0					16																	83999526		2195	4292	6487	82557027	SO:0001589	frameshift_variant	29948			AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1597delG	16.37:g.83999526delG	ENSP00000343376:p.Gly533fs		82557027	Q52M33|Q86UQ1|Q96S88|Q9BZ70	Frame_Shift_Del	DEL	ENST00000343939.2	37																																																																																					0.657	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370	
KLHL36	79786	hgsc.bcm.edu	37	16	84695234	84695235	+	Frame_Shift_Ins	INS	-	-	G	rs373757262		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:84695234_84695235insG	ENST00000564996.1	+	5	1487_1488	c.1346_1347insG	c.(1345-1350)tcggggfs	p.SG449fs	KLHL36_ENST00000258157.5_Frame_Shift_Ins_p.SG386fs	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	449					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTGTACATCTCGGGGGGCCACG	0.639																																																	0			16																																								83252736	SO:0001589	frameshift_variant	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1352dupG	16.37:g.84695240_84695240dupG	ENSP00000456743:p.Ser449fs		83252735	Q8N5G6|Q9H9U6	Frame_Shift_Ins	INS	ENST00000564996.1	37	CCDS10948.1																																																																																				0.639	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2		
GSE1	23199	hgsc.bcm.edu	37	16	85682290	85682290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:85682290delC	ENST00000253458.7	+	3	535	c.359delC	c.(358-360)accfs	p.T120fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	120								p.V123fs*2(1)									GTGCCCAGCACCCCCCCCGTG	0.687																																																	1	Deletion - Frameshift(1)	ovary(1)	16											64.0	64.0	64.0					16																	85682290		2197	4300	6497	84239791	SO:0001589	frameshift_variant	23199			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.359delC	16.37:g.85682290delC	ENSP00000253458:p.Thr120fs		84239791	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	CCDS10952.1																																																																																				0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615	
FOXL1	2300	hgsc.bcm.edu	37	16	86613231	86613231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:86613231delC	ENST00000320241.3	+	1	1117	c.902delC	c.(901-903)tccfs	p.S303fs		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	303					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTGGCCGCCTCCTCCAGCCTC	0.672																																					NSCLC(163;308 2020 10889 11476 18208)												0			16											21.0	25.0	24.0					16																	86613231		2198	4300	6498	85170732	SO:0001589	frameshift_variant	2300			AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.902delC	16.37:g.86613231delC	ENSP00000326272:p.Ser303fs		85170732	Q17RR1|Q9H242	Frame_Shift_Del	DEL	ENST00000320241.3	37	CCDS10959.1																																																																																				0.672	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250	
ZCCHC14	23174	hgsc.bcm.edu	37	16	87445899	87445899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:87445899delG	ENST00000268616.4	-	12	2234	c.2017delC	c.(2017-2019)cggfs	p.R673fs		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	673							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.R673R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGAGCAGTCCGGGGGTTTATT	0.512																																																	1	Substitution - coding silent(1)	lung(1)	16											77.0	94.0	88.0					16																	87445899		2197	4290	6487	86003400	SO:0001589	frameshift_variant	23174			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2017delC	16.37:g.87445899delG	ENSP00000268616:p.Arg673fs		86003400	D3DUN1|O60324|Q3MJD8|Q9UFP0	Frame_Shift_Del	DEL	ENST00000268616.4	37	CCDS10961.1																																																																																				0.512	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
VPS9D1	9605	hgsc.bcm.edu	37	16	89775777	89775777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr16:89775777delG	ENST00000389386.3	-	12	1579	c.1455delC	c.(1453-1455)cccfs	p.P485fs	VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Frame_Shift_Del_p.P415fs|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	485	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CAATGGCGGTGGGGGGTGCAT	0.692																																																	0			16											27.0	33.0	31.0					16																	89775777		1992	4142	6134	88303278	SO:0001589	frameshift_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.1455delC	16.37:g.89775777delG	ENSP00000374037:p.Pro485fs		88303278		Frame_Shift_Del	DEL	ENST00000389386.3	37	CCDS42220.1																																																																																				0.692	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913	
EFNB3	1949	hgsc.bcm.edu	37	17	7612856	7612856	+	Frame_Shift_Del	DEL	C	C	-	rs532773147	byFrequency	TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:7612856delC	ENST00000226091.2	+	5	1382	c.985delC	c.(985-987)cccfs	p.P330fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	330					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GCAGGATGGGCCCCCCCAGAG	0.577																																																	0			17											51.0	48.0	49.0					17																	7612856		2203	4297	6500	7553581	SO:0001589	frameshift_variant	1949			U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.985delC	17.37:g.7612856delC	ENSP00000226091:p.Pro330fs		7553581	B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Del	DEL	ENST00000226091.2	37	CCDS11120.1																																																																																				0.577	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406	
ALOX12B	242	hgsc.bcm.edu	37	17	7979578	7979579	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:7979578_7979579insG	ENST00000319144.4	-	11	1706_1707	c.1446_1447insC	c.(1444-1449)cccaatfs	p.N483fs	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	483	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACAAAGTCATTGGGGAGGTAGA	0.589										Multiple Myeloma(8;0.094)																																							0			17																																								7920304	SO:0001589	frameshift_variant	242			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1447dupC	17.37:g.7979582_7979582dupG	ENSP00000315167:p.Asn483fs		7920303		Frame_Shift_Ins	INS	ENST00000319144.4	37	CCDS11129.1																																																																																				0.589	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		
ALOX12B	242	hgsc.bcm.edu	37	17	7982767	7982767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:7982767delG	ENST00000319144.4	-	8	1278	c.1018delC	c.(1018-1020)ctcfs	p.L340fs	AC129492.6_ENST00000399413.3_5'Flank|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	340	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGCAGGCAGAGGGGGGCGCAG	0.667										Multiple Myeloma(8;0.094)																																							0			17											21.0	19.0	19.0					17																	7982767		2125	4158	6283	7923492	SO:0001589	frameshift_variant	242			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1018delC	17.37:g.7982767delG	ENSP00000315167:p.Leu340fs		7923492		Frame_Shift_Del	DEL	ENST00000319144.4	37	CCDS11129.1																																																																																				0.667	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		
C17orf51	339263	hgsc.bcm.edu	37	17	21454584	21454584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:21454584delG	ENST00000391411.5	-	1	359	c.102delC	c.(100-102)cccfs	p.P34fs	C17orf51_ENST00000412778.3_Frame_Shift_Del_p.P34fs|C17orf51_ENST00000535846.1_Intron|RP11-822E23.8_ENST00000426261.2_RNA	NM_001113434.3	NP_001106905.1	A8MQB3	CQ051_HUMAN	chromosome 17 open reading frame 51	34										endometrium(1)	1						CCCGCGAAGAGGGGGTGAAAC	0.657																																																	0			17											18.0	24.0	22.0					17																	21454584		691	1591	2282	21395177	SO:0001589	frameshift_variant	339263			BC010612	CCDS45629.1	17p11.2	2012-10-11			ENSG00000212719	ENSG00000212719			27904	protein-coding gene	gene with protein product							Standard	XM_005256621		Approved	FLJ12977, FLJ31874, FLJ33618	uc002gyw.4	A8MQB3	OTTHUMG00000132832	ENST00000391411.5:c.102delC	17.37:g.21454584delG	ENSP00000384286:p.Pro34fs		21395177	B2RN29|B5MCL4	Frame_Shift_Del	DEL	ENST00000391411.5	37	CCDS45629.1																																																																																				0.657	C17orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256298.3	NM_001113434	
FAM222B	55731	hgsc.bcm.edu	37	17	27086258	27086258	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:27086258delG	ENST00000341217.5	-	3	934	c.719delC	c.(718-720)ccgfs	p.P240fs	FAM222B_ENST00000581407.1_Frame_Shift_Del_p.P240fs|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Frame_Shift_Del_p.P240fs	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	240																	GGTCACATTCGGGGGGGCATC	0.617																																																	0			17											25.0	27.0	26.0					17																	27086258		2105	4218	6323	24110385	SO:0001589	frameshift_variant	55731			AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.719delC	17.37:g.27086258delG	ENSP00000343115:p.Pro240fs		24110385	Q9H6F3|Q9NVJ4|Q9NXN6	Frame_Shift_Del	DEL	ENST00000341217.5	37	CCDS45637.1																																																																																				0.617	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182	
SMARCE1	6605	hgsc.bcm.edu	37	17	38787845	38787846	+	Splice_Site	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:38787845_38787846insT	ENST00000348513.6	-	9	1594_1595	c.814_815insA	c.(814-816)agg>aAgg	p.R272fs	SMARCE1_ENST00000578044.1_Splice_Site_p.R202fs|SMARCE1_ENST00000377808.4_Splice_Site_p.R237fs|SMARCE1_ENST00000544009.1_Splice_Site_p.R202fs|SMARCE1_ENST00000400122.3_Splice_Site_p.R202fs|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Splice_Site_p.R237fs|SMARCE1_ENST00000431889.2_Splice_Site_p.R254fs	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	272					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				AACAGATACCCTTTTAAGTTCA	0.312																																																	0			17																																								36041372	SO:0001630	splice_region_variant	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.816+1->A	17.37:g.38787849_38787849dupT			36041371	B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Frame_Shift_Ins	INS	ENST00000348513.6	37	CCDS11370.1																																																																																				0.312	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079	Frame_Shift_Ins
COIL	8161	hgsc.bcm.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																																	0			17											141.0	132.0	135.0					17																	55028016		2203	4300	6503	52383015	SO:0001589	frameshift_variant	8161			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs		52383015	B2R931	Frame_Shift_Del	DEL	ENST00000240316.4	37	CCDS11592.1																																																																																				0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1		
PRR11	55771	hgsc.bcm.edu	37	17	57247170	57247171	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:57247170_57247171insA	ENST00000262293.4	+	2	369_370	c.57_58insA	c.(58-60)aaafs	p.K20fs		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	20						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E23fs*9(3)|p.E23fs*46(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAAGATTATTCAAAAAAAAAGA	0.361																																																	4	Deletion - Frameshift(3)|Insertion - Frameshift(1)	large_intestine(2)|ovary(1)|lung(1)	17																																								54601953	SO:0001589	frameshift_variant	55771				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.66dupA	17.37:g.57247179_57247179dupA	ENSP00000262293:p.Lys20fs		54601952	Q9NUZ7|Q9NXE9	Frame_Shift_Ins	INS	ENST00000262293.4	37	CCDS11614.1																																																																																				0.361	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304	
CCDC47	57003	hgsc.bcm.edu	37	17	61829359	61829359	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:61829359delT	ENST00000225726.5	-	12	1694	c.1312delA	c.(1312-1314)agafs	p.R438fs	CCDC47_ENST00000403162.3_Frame_Shift_Del_p.R438fs|RP11-51F16.8_ENST00000580553.1_Frame_Shift_Del_p.K33fs|CCDC47_ENST00000582252.1_Frame_Shift_Del_p.R438fs	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	438					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TTCTCTGCTCTTTTTTTCTCC	0.458																																																	0			17											141.0	138.0	139.0					17																	61829359		2203	4300	6503	59183091	SO:0001589	frameshift_variant	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1312delA	17.37:g.61829359delT	ENSP00000225726:p.Arg438fs		59183091	B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Frame_Shift_Del	DEL	ENST00000225726.5	37	CCDS11643.1																																																																																				0.458	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198	
HEXDC	284004	hgsc.bcm.edu	37	17	80400298	80400298	+	3'UTR	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr17:80400298delG	ENST00000327949.9	+	0	1510				HEXDC_ENST00000577944.1_Frame_Shift_Del_p.L502fs|HEXDC_ENST00000337014.6_Frame_Shift_Del_p.G531fs			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing						carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGGAGGCTGGGGGGGCTCT	0.692																																																	0			17											27.0	32.0	31.0					17																	80400298		1871	4081	5952	77993587	SO:0001624	3_prime_UTR_variant	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.*38G>-	17.37:g.80400298delG			77993587	B7UUP6|Q8IYN4|Q8TE81	Frame_Shift_Del	DEL	ENST00000327949.9	37																																																																																					0.692	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620	
ALPK2	115701	hgsc.bcm.edu	37	18	56246440	56246440	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:56246440delT	ENST00000361673.3	-	4	1781	c.1568delA	c.(1567-1569)aagfs	p.K523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCATAAGTCCTTTCCCCCCAC	0.522											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			18											227.0	226.0	226.0					18																	56246440		2203	4300	6503	54397420	SO:0001589	frameshift_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1568delA	18.37:g.56246440delT	ENSP00000354991:p.Lys523fs	1014	54397420	Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Del	DEL	ENST00000361673.3	37	CCDS11966.2																																																																																				0.522	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
LMAN1	3998	hgsc.bcm.edu	37	18	57013194	57013194	+	Frame_Shift_Del	DEL	T	T	-	rs553350987		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr18:57013194delT	ENST00000251047.5	-	8	1629	c.912delA	c.(910-912)aaafs	p.K304fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	304					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGAATTCCTCTTTTTTTTTAT	0.453																																																	0			18											138.0	139.0	139.0					18																	57013194		2203	4300	6503	55164174	SO:0001589	frameshift_variant	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.912delA	18.37:g.57013194delT	ENSP00000251047:p.Lys304fs		55164174	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Del	DEL	ENST00000251047.5	37	CCDS11974.1																																																																																				0.453	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	
RNF126	55658	hgsc.bcm.edu	37	19	648262	648263	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:648262_648263insG	ENST00000292363.5	-	9	956_957	c.801_802insC	c.(799-804)cccgtcfs	p.V268fs		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TTTCGGCAGACGGGGCAGCTGT	0.693																																																	0			19																																								599263	SO:0001589	frameshift_variant	55658			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.802dupC	19.37:g.648266_648266dupG	ENSP00000292363:p.Val268fs		599262		Frame_Shift_Ins	INS	ENST00000292363.5	37	CCDS12039.1																																																																																				0.693	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876	
SAFB2	9667	hgsc.bcm.edu	37	19	5587282	5587282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:5587282delG	ENST00000252542.4	-	21	3098	c.2834delC	c.(2833-2835)ccgfs	p.P945fs		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	945	Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P945fs*>9(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		gtgggggtacggggggggatg	0.657																																					Ovarian(127;888 1728 23957 44128 52668)												1	Deletion - Frameshift(1)	large_intestine(1)	19											21.0	21.0	21.0					19																	5587282		2201	4300	6501	5538282	SO:0001589	frameshift_variant	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2834delC	19.37:g.5587282delG	ENSP00000252542:p.Pro945fs		5538282	B4DKG3|Q8TB13	Frame_Shift_Del	DEL	ENST00000252542.4	37	CCDS32879.1																																																																																				0.657	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649	
PNPLA6	10908	hgsc.bcm.edu	37	19	7607647	7607648	+	Splice_Site	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:7607647_7607648insC	ENST00000221249.6	+	15	1677_1678	c.1246_1247insC	c.(1246-1248)acc>aCcc	p.T416fs	PNPLA6_ENST00000545201.2_Splice_Site_p.T416fs|PNPLA6_ENST00000450331.3_Splice_Site_p.T416fs|PNPLA6_ENST00000600737.1_Splice_Site_p.T455fs|PNPLA6_ENST00000414982.3_Splice_Site_p.T464fs	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	455					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCCCACTCAGACCCCCACTCAG	0.673																																																	0			19																																								7513648	SO:0001630	splice_region_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1246-1->C	19.37:g.7607652_7607652dupC			7513647	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Frame_Shift_Ins	INS	ENST00000221249.6	37	CCDS32891.1																																																																																				0.673	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	Frame_Shift_Ins
LRRC8E	80131	hgsc.bcm.edu	37	19	7964957	7964957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:7964957delT	ENST00000306708.6	+	3	1651	c.1550delT	c.(1549-1551)cttfs	p.L517fs	AC010336.1_ENST00000539278.1_Frame_Shift_Del_p.S104fs|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	517					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CTGGAGGGGCTTTTCCCCCAG	0.657																																																	0			19											23.0	21.0	21.0					19																	7964957		2201	4300	6501	7870957	SO:0001589	frameshift_variant	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1550delT	19.37:g.7964957delT	ENSP00000306524:p.Leu517fs		7870957	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Frame_Shift_Del	DEL	ENST00000306708.6	37	CCDS12189.1																																																																																				0.657	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061	
OR7E24	26648	hgsc.bcm.edu	37	19	9362217	9362217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:9362217delT	ENST00000456448.1	+	1	612	c.498delT	c.(496-498)tctfs	p.S166fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCTTGTTGTCTTTTTTTATTA	0.443																																																	0			19											121.0	135.0	130.0					19																	9362217		2149	4259	6408	9223217	SO:0001589	frameshift_variant	26648			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.498delT	19.37:g.9362217delT	ENSP00000387523:p.Ser166fs		9223217	B9EJD9|Q9UPJ1	Frame_Shift_Del	DEL	ENST00000456448.1	37	CCDS45955.1																																																																																				0.443	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1		
ICAM5	7087	hgsc.bcm.edu	37	19	10402955	10402955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:10402955delG	ENST00000221980.4	+	4	981	c.918delG	c.(916-918)ctgfs	p.L306fs		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	306	Ig-like C2-type 3.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ACGTCACCCTGGGGGGCGAAA	0.647																																																	0			19											26.0	21.0	23.0					19																	10402955		2202	4300	6502	10263955	SO:0001589	frameshift_variant	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.918delG	19.37:g.10402955delG	ENSP00000221980:p.Leu306fs		10263955	Q9Y6F3	Frame_Shift_Del	DEL	ENST00000221980.4	37	CCDS12233.1																																																																																				0.647	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259	
DOCK6	57572	hgsc.bcm.edu	37	19	11324971	11324971	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:11324971delG	ENST00000294618.7	-	34	4329	c.4318delC	c.(4318-4320)cagfs	p.Q1440fs	DOCK6_ENST00000319867.7_Frame_Shift_Del_p.Q779fs|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1440					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGGGCCCTCTGGGTGGCCAGG	0.572																																																	0			19											30.0	32.0	31.0					19																	11324971		1998	4159	6157	11185971	SO:0001589	frameshift_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4318delC	19.37:g.11324971delG	ENSP00000294618:p.Gln1440fs		11185971	A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	CCDS45975.1																																																																																				0.572	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812	
JUNB	3726	hgsc.bcm.edu	37	19	12902958	12902958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:12902958delG	ENST00000302754.4	+	1	649	c.373delG	c.(373-375)gggfs	p.G127fs		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	127					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						AGGGGGCGCAGGGGGCGGCGT	0.662																																																	0			19											8.0	9.0	9.0					19																	12902958		2109	4183	6292	12763958	SO:0001589	frameshift_variant	10535			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.373delG	19.37:g.12902958delG	ENSP00000303315:p.Gly127fs		12763958	Q96GH3	Frame_Shift_Del	DEL	ENST00000302754.4	37	CCDS12280.1																																																																																				0.662	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229	
CACNA1A	773	hgsc.bcm.edu	37	19	13414640	13414640	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:13414640delC	ENST00000360228.5	-	16	2044	c.2045delG	c.(2044-2046)ggcfs	p.G682fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.G683fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	683					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCCTGCACGCCCCCCTGAGA	0.557																																																	0			19											172.0	177.0	175.0					19																	13414640		2025	4179	6204	13275640	SO:0001589	frameshift_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2045delG	19.37:g.13414640delC	ENSP00000353362:p.Gly682fs		13275640	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Del	DEL	ENST00000360228.5	37	CCDS45998.1																																																																																				0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
MAST3	23031	hgsc.bcm.edu	37	19	18245760	18245760	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:18245760delC	ENST00000262811.6	+	16	1751	c.1751delC	c.(1750-1752)accfs	p.T584fs		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	584	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTTGGAGATACCCCCGAGGAA	0.627																																																	0			19											109.0	114.0	112.0					19																	18245760		2061	4207	6268	18106760	SO:0001589	frameshift_variant	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1751delC	19.37:g.18245760delC	ENSP00000262811:p.Thr584fs		18106760	Q7LDZ8|Q9UPI0	Frame_Shift_Del	DEL	ENST00000262811.6	37	CCDS46014.1																																																																																				0.627	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150	
KMT2B	9757	hgsc.bcm.edu	37	19	36221688	36221688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:36221688delG	ENST00000222270.7	+	26	5357	c.5357delG	c.(5356-5358)tggfs	p.W1786fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.W1786fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1786					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TATCGGCCATGGGGGCCGAGG	0.617																																																	0			19											41.0	48.0	46.0					19																	36221688		2052	4188	6240	40913528	SO:0001589	frameshift_variant	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5357delG	19.37:g.36221688delG	ENSP00000222270:p.Trp1786fs		40913528	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	CCDS46055.1																																																																																				0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
ZNF382	84911	hgsc.bcm.edu	37	19	37118175	37118176	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:37118175_37118176insG	ENST00000292928.2	+	5	1489_1490	c.1376_1377insG	c.(1375-1380)acggggfs	p.TG459fs	CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Frame_Shift_Ins_p.TG458fs|ZNF382_ENST00000423582.1_Frame_Shift_Ins_p.TG410fs|ZNF382_ENST00000439428.1_Frame_Shift_Ins_p.TG458fs	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	459	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T459T(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAATTCACACGGGGGAAAAAC	0.441																																																	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	19																																								41810016	SO:0001589	frameshift_variant	84911			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1381dupG	19.37:g.37118180_37118180dupG	ENSP00000292928:p.Thr459fs		41810015	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Frame_Shift_Ins	INS	ENST00000292928.2	37	CCDS33004.1																																																																																				0.441	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
SIPA1L3	23094	hgsc.bcm.edu	37	19	38609985	38609985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:38609985delC	ENST00000222345.6	+	9	2840	c.2331delC	c.(2329-2331)ggcfs	p.G777fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	777	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCTTTCGGCCCCCCCATCC	0.537																																																	0			19											66.0	74.0	71.0					19																	38609985		2203	4300	6503	43301825	SO:0001589	frameshift_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2331delC	19.37:g.38609985delC	ENSP00000222345:p.Gly777fs		43301825	Q2TV87	Frame_Shift_Del	DEL	ENST00000222345.6	37	CCDS33007.1																																																																																				0.537	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
HNRNPL	3191	hgsc.bcm.edu	37	19	39334512	39334512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:39334512delC	ENST00000221419.5	-	6	1216	c.850delG	c.(850-852)gacfs	p.D284fs	AC008982.2_ENST00000600473.1_RNA|HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.D151fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	284					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTTGTGTAGTCCCAAGTATCC	0.483																																																	0			19											172.0	142.0	152.0					19																	39334512		2203	4300	6503	44026352	SO:0001589	frameshift_variant	3191			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.850delG	19.37:g.39334512delC	ENSP00000221419:p.Asp284fs		44026352	A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Del	DEL	ENST00000221419.5	37	CCDS33015.1																																																																																				0.483	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		
PPP5C	5536	hgsc.bcm.edu	37	19	46850393	46850393	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:46850393delC	ENST00000012443.4	+	1	143	c.40delC	c.(40-42)cccfs	p.P15fs	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	15					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)	p.R16fs*7(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GTGTGCTGAGCCCCCCCGGGA	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Insertion - Frameshift(1)	ovary(1)	19											25.0	23.0	24.0					19																	46850393		2197	4298	6495	51542233	SO:0001589	frameshift_variant	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.40delC	19.37:g.46850393delC	ENSP00000012443:p.Pro15fs	942	51542233	Q16722|Q53XV2	Frame_Shift_Del	DEL	ENST00000012443.4	37	CCDS12684.1																																																																																				0.687	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247	
FUT2	2524	hgsc.bcm.edu	37	19	49206855	49206855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:49206855delG	ENST00000425340.2	+	2	759	c.642delG	c.(640-642)aagfs	p.K214fs	FUT2_ENST00000391876.4_Frame_Shift_Del_p.K214fs	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	214					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AAGTGTGGAAGGGGGTGGTGG	0.627																																																	0			19											67.0	70.0	69.0					19																	49206855		2203	4300	6503	53898667	SO:0001589	frameshift_variant	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.642delG	19.37:g.49206855delG	ENSP00000387498:p.Lys214fs		53898667	Q0VAG5|Q14338|Q5D0G2	Frame_Shift_Del	DEL	ENST00000425340.2	37	CCDS33069.1																																																																																				0.627	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511	
BAX	581	hgsc.bcm.edu	37	19	49458971	49458971	+	Frame_Shift_Del	DEL	G	G	-	rs141306106|rs398122842|rs398122841		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:49458971delG	ENST00000345358.7	+	3	166	c.114delG	c.(112-114)atgfs	p.M38fs	BAX_ENST00000391871.3_Frame_Shift_Del_p.W21fs|BAX_ENST00000415969.2_Frame_Shift_Del_p.M38fs|BAX_ENST00000293288.8_Frame_Shift_Del_p.M38fs|BAX_ENST00000354470.3_Intron|BAX_ENST00000539787.1_Frame_Shift_Del_p.M38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		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;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CAGGGCGAATGGGGGGGGAGG	0.592																																																	1	Deletion - Frameshift(1)	lung(1)	19											59.0	57.0	57.0					19																	49458971		2203	4300	6503	54150783	SO:0001589	frameshift_variant	581				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.114delG	19.37:g.49458971delG	ENSP00000263262:p.Met38fs		54150783	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Del	DEL	ENST00000345358.7	37	CCDS12742.1																																																																																				0.592	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763	
PRR12	57479	hgsc.bcm.edu	37	19	50098979	50098979	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:50098979delG	ENST00000418929.2	+	4	1399	c.1387delG	c.(1387-1389)gggfs	p.G464fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGGGTTTGGAGGGGGGCAGGC	0.701																																																	0			19											15.0	17.0	16.0					19																	50098979		1732	3926	5658	54790791	SO:0001589	frameshift_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1387delG	19.37:g.50098979delG	ENSP00000394510:p.Gly464fs		54790791	E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	CCDS46143.1																																																																																				0.701	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
SSC5D	284297	hgsc.bcm.edu	37	19	56001764	56001764	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:56001764delC	ENST00000389623.6	+	5	598	c.575delC	c.(574-576)gccfs	p.A192fs	SSC5D_ENST00000587166.1_Frame_Shift_Del_p.A192fs	NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	192					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						ACGACAGGAGCCCCCCGCCAA	0.711																																																	0			19											16.0	29.0	25.0					19																	56001764		692	1587	2279	60693576	SO:0001589	frameshift_variant	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.575delC	19.37:g.56001764delC	ENSP00000374274:p.Ala192fs		60693576	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Frame_Shift_Del	DEL	ENST00000389623.6	37	CCDS46196.1																																																																																				0.711	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
SSC5D	284297	hgsc.bcm.edu	37	19	56006054	56006054	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr19:56006054delC	ENST00000389623.6	+	8	1314	c.1291delC	c.(1291-1293)cccfs	p.P432fs	SSC5D_ENST00000587166.1_Frame_Shift_Del_p.P432fs	NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	432					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						TGCCTCCAGGCCCCCGTCCAC	0.677																																																	0			19											31.0	49.0	44.0					19																	56006054		692	1590	2282	60697866	SO:0001589	frameshift_variant	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.1291delC	19.37:g.56006054delC	ENSP00000374274:p.Pro432fs		60697866	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Frame_Shift_Del	DEL	ENST00000389623.6	37	CCDS46196.1																																																																																				0.677	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
DEFB126	81623	hgsc.bcm.edu	37	20	126311	126312	+	Frame_Shift_Del	DEL	CC	CC	-	rs376364807|rs11467417|rs386393058		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:126311_126312delCC	ENST00000382398.3	+	2	574_575	c.314_315delCC	c.(313-315)accfs	p.T105fs	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	105					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATGGCTCCTACCCCCGTTTCTC	0.455																																																	0			20								2386,1878		678,1030,424						-4.7	0.0		dbSNP_120	113	4702,3552		1341,2020,766	no	frameshift	DEFB126	NM_030931.2		2019,3050,1190	A1A1,A1R,RR		43.0337,44.0432,43.3775				7088,5430				74312	SO:0001589	frameshift_variant	81623				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.314_315delCC	20.37:g.126313_126314delCC	ENSP00000371835:p.Thr105fs		74311	Q562G3|Q9H1M5	Frame_Shift_Del	DEL	ENST00000382398.3	37	CCDS12990.1																																																																																				0.455	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931	
SOGA1	140710	hgsc.bcm.edu	37	20	35422784	35422784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:35422784delG	ENST00000357779.3	-	14	3313	c.2987delC	c.(2986-2988)ccafs	p.P996fs	SOGA1_ENST00000237536.4_Frame_Shift_Del_p.P1234fs|SOGA1_ENST00000456801.2_Frame_Shift_Del_p.P837fs|SOGA1_ENST00000279034.6_Frame_Shift_Del_p.P996fs			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	996					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTGCCTCCCTGGGGGGTCCTG	0.657																																																	0			20											17.0	19.0	18.0					20																	35422784		1939	4128	6067	34856198	SO:0001589	frameshift_variant	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2987delC	20.37:g.35422784delG	ENSP00000350424:p.Pro996fs		34856198	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Frame_Shift_Del	DEL	ENST00000357779.3	37																																																																																					0.657	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	
RALGAPB	57148	hgsc.bcm.edu	37	20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:37146233delC	ENST00000262879.6	+	8	1420	c.1136delC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.T157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Del_p.T379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCAGTACCACCCCCCCACAT	0.448																																																	1	Insertion - Frameshift(1)	lung(1)	20											134.0	123.0	126.0					20																	37146233		2203	4300	6503	36579647	SO:0001589	frameshift_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1136delC	20.37:g.37146233delC	ENSP00000262879:p.Thr379fs		36579647	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	ENST00000262879.6	37	CCDS13305.1																																																																																				0.448	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
PIGT	51604	hgsc.bcm.edu	37	20	44054454	44054454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:44054454delC	ENST00000279036.6	+	12	1805	c.1725delC	c.(1723-1725)gtcfs	p.V575fs	PIGT_ENST00000535404.1_Frame_Shift_Del_p.V420fs|PIGT_ENST00000545755.1_Frame_Shift_Del_p.V313fs|PIGT_ENST00000543458.2_Frame_Shift_Del_p.V519fs|PIGT_ENST00000341555.5_Frame_Shift_Del_p.V381fs|PIGT_ENST00000279035.9_Frame_Shift_Del_p.V473fs|PIGT_ENST00000372689.5_Frame_Shift_Del_p.V508fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	575					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCCGAGGTGTCCCCCCACTCT	0.627																																																	0			20											22.0	25.0	24.0					20																	44054454		2203	4300	6503	43487868	SO:0001589	frameshift_variant	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1725delC	20.37:g.44054454delC	ENSP00000279036:p.Val575fs		43487868	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Frame_Shift_Del	DEL	ENST00000279036.6	37	CCDS13353.1																																																																																				0.627	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937	
ZNF217	7764	hgsc.bcm.edu	37	20	52188288	52188288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:52188288delT	ENST00000371471.2	-	5	3567	c.3142delA	c.(3142-3144)actfs	p.T1048fs	ZNF217_ENST00000302342.3_Frame_Shift_Del_p.T1048fs|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	1048					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTGAATCAAGTTTTTTTGTCA	0.413																																																	0			20											179.0	166.0	170.0					20																	52188288		2202	4298	6500	51621695	SO:0001589	frameshift_variant	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.3142delA	20.37:g.52188288delT	ENSP00000360526:p.Thr1048fs		51621695	E1P5Y6|Q14DB8	Frame_Shift_Del	DEL	ENST00000371471.2	37	CCDS13443.1																																																																																				0.413	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
DIDO1	11083	hgsc.bcm.edu	37	20	61513713	61513713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr20:61513713delT	ENST00000266070.4	-	16	3920	c.3595delA	c.(3595-3597)atcfs	p.I1199fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.I1199fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1199					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGACGTTTGATTTTTTGGCAG	0.428																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0			20											90.0	97.0	94.0					20																	61513713		2203	4300	6503	60984158	SO:0001589	frameshift_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3595delA	20.37:g.61513713delT	ENSP00000266070:p.Ile1199fs		60984158	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	ENST00000266070.4	37	CCDS33506.1																																																																																				0.428	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
SCAF4	57466	hgsc.bcm.edu	37	21	33074655	33074655	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:33074655delT	ENST00000286835.7	-	5	741	c.359delA	c.(358-360)aatfs	p.N120fs	SCAF4_ENST00000399804.1_Frame_Shift_Del_p.N120fs|SCAF4_ENST00000434667.3_Frame_Shift_Del_p.N105fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	120	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAACACTCCATTTTTTTGCCA	0.353																																																	0			21											103.0	93.0	97.0					21																	33074655		2203	4300	6503	31996526	SO:0001589	frameshift_variant	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.359delA	21.37:g.33074655delT	ENSP00000286835:p.Asn120fs		31996526	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Frame_Shift_Del	DEL	ENST00000286835.7	37	CCDS33537.1																																																																																				0.353	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
SON	6651	hgsc.bcm.edu	37	21	34945711	34945713	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	AAG	AAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:34945711_34945713delAAG	ENST00000356577.4	+	9	7458_7460	c.6983_6985delAAG	c.(6982-6987)aaagaa>aaa	p.E2329del	SON_ENST00000381692.2_In_Frame_Del_p.E357del|SON_ENST00000470533.1_3'UTR|SON_ENST00000290239.6_3'UTR	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2329	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGAAAAAACAAAGAAGGCAATAA	0.399																																																	0			21																																								33867583	SO:0001651	inframe_deletion	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6983_6985delAAG	21.37:g.34945714_34945716delAAG	ENSP00000348984:p.Glu2329del		33867581	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	In_Frame_Del	DEL	ENST00000356577.4	37	CCDS13629.1																																																																																				0.399	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
BACE2	25825	hgsc.bcm.edu	37	21	42540489	42540489	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr21:42540489delC	ENST00000330333.6	+	1	762	c.299delC	c.(298-300)accfs	p.T100fs	BACE2_ENST00000347667.5_Frame_Shift_Del_p.T100fs|MIR3197_ENST00000582241.1_RNA|BACE2_ENST00000328735.6_Frame_Shift_Del_p.T100fs	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	100					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTGATCGGGACCCCCCCGCAG	0.701																																																	0			21							,,	16,3952		1,14,1969	7.0	8.0	8.0		,,	2.8	0.8	21		8	52,7696		0,52,3822	no	frameshift,frameshift,frameshift	BACE2	NM_138992.1,NM_138991.1,NM_012105.3	,,	1,66,5791	A1A1,A1R,RR		0.6711,0.4032,0.5804	,,	,,	42540489	68,11648	2131	4151	6282	41462359	SO:0001589	frameshift_variant	25825			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.299delC	21.37:g.42540489delC	ENSP00000332979:p.Thr100fs		41462359	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Frame_Shift_Del	DEL	ENST00000330333.6	37	CCDS13668.1																																																																																				0.701	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1		
MICAL3	57553	hgsc.bcm.edu	37	22	18300932	18300932	+	Frame_Shift_Del	DEL	G	G	-	rs373213687		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:18300932delG	ENST00000441493.2	-	26	4847	c.4495delC	c.(4495-4497)cggfs	p.R1499fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1499	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCAGGCTCCCGGGGGGGCCGC	0.677																																																	0			22											14.0	14.0	14.0					22																	18300932		1874	4059	5933	16680932	SO:0001589	frameshift_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4495delC	22.37:g.18300932delG	ENSP00000416015:p.Arg1499fs		16680932	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	ENST00000441493.2	37	CCDS46659.1																																																																																				0.677	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		
ZDHHC8	29801	hgsc.bcm.edu	37	22	20130522	20130522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:20130522delC	ENST00000334554.7	+	10	1510	c.1369delC	c.(1369-1371)cccfs	p.P458fs	ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P366fs|ZDHHC8_ENST00000405930.3_Frame_Shift_Del_p.P458fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	458					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGAGGGGGGGCCCCCCACGCC	0.687																																																	0			22											15.0	18.0	17.0					22																	20130522		2172	4259	6431	18510522	SO:0001589	frameshift_variant	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1369delC	22.37:g.20130522delC	ENSP00000334490:p.Pro458fs		18510522	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Frame_Shift_Del	DEL	ENST00000334554.7	37	CCDS13776.1																																																																																				0.687	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373	
NEFH	4744	hgsc.bcm.edu	37	22	29885567	29885568	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs147489453|rs559153194|rs75808076|rs59279731		TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:29885567_29885568insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1971_1972	c.1938_1939insAAGTCCCCTGAGAAGGCC	c.(1939-1941)aag>AAGTCCCCTGAGAAGGCCaag	p.647_647K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	653	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTGA	0.569																																																	0			22								2816,1448		937,942,253						-5.3	0.0		dbSNP_134	77	5046,3206		1537,1972,617	no	coding	NEFH	NM_021076.3		2474,2914,870	A1A1,A1R,RR		38.8512,33.9587,37.1844				7862,4654				28215568	SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1939_1956dupAAGTCCCCTGAGAAGGCC	22.37:g.29885567_29885568insAAGTCCCCTGAGAAGGCC	Exception_encountered		28215567	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
SMTN	6525	hgsc.bcm.edu	37	22	31485922	31485922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:31485922delC	ENST00000347557.2	+	7	927	c.709delC	c.(709-711)cccfs	p.P238fs	SMTN_ENST00000358743.1_Frame_Shift_Del_p.P238fs|SMTN_ENST00000333137.7_Frame_Shift_Del_p.P238fs	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	238	Pro-rich.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCAGAGCCACCCCCCAGCCC	0.652																																																	0			22											30.0	30.0	30.0					22																	31485922		2197	4298	6495	29815922	SO:0001589	frameshift_variant	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.709delC	22.37:g.31485922delC	ENSP00000328635:p.Pro238fs		29815922	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Frame_Shift_Del	DEL	ENST00000347557.2	37	CCDS13886.1																																																																																				0.652	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270	
ATF4	468	hgsc.bcm.edu	37	22	39918398	39918398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:39918398delA	ENST00000337304.2	+	2	1729	c.847delA	c.(847-849)aaafs	p.K284fs	ATF4_ENST00000404241.2_Frame_Shift_Del_p.K284fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.K284fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	284	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.			K -> R (in Ref. 5; no nucleotide entry). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TAAGAAGCTGAAAAAAATGGA	0.498																																																	0			22											20.0	22.0	21.0					22																	39918398		2198	4279	6477	38248344	SO:0001589	frameshift_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.847delA	22.37:g.39918398delA	ENSP00000336790:p.Lys284fs		38248344	Q9UH31	Frame_Shift_Del	DEL	ENST00000337304.2	37	CCDS13996.1																																																																																				0.498	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675	
EP300	2033	hgsc.bcm.edu	37	22	41574679	41574679	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:41574679delC	ENST00000263253.7	+	31	8183	c.6964delC	c.(6964-6966)cccfs	p.P2323fs	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2323					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACAGTCCCAGCCCCCCCACTC	0.612			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22											87.0	91.0	90.0					22																	41574679		2203	4300	6503	39904625	SO:0001589	frameshift_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6964delC	22.37:g.41574679delC	ENSP00000263253:p.Pro2323fs		39904625	B1AKC2	Frame_Shift_Del	DEL	ENST00000263253.7	37	CCDS14010.1																																																																																				0.612	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
PNPLA5	150379	hgsc.bcm.edu	37	22	44285694	44285694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:44285694delG	ENST00000597664.1	-	3	606	c.477delC	c.(475-477)cccfs	p.P159fs	PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000216177.4_Frame_Shift_Del_p.P159fs|PNPLA5_ENST00000593866.1_Intron			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	159	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.E160fs*47(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTCTGAACTCGGGGGGGATCA	0.572																																																	1	Insertion - Frameshift(1)	ovary(1)	22																																								42617027	SO:0001589	frameshift_variant	150379			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.477delC	22.37:g.44285694delG	ENSP00000471069:p.Pro159fs		42617027	B1AHL8|B3KPR1|Q6ZST0	Frame_Shift_Del	DEL	ENST00000597664.1	37																																																																																					0.572	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814	
PPP6R2	9701	hgsc.bcm.edu	37	22	50879410	50879410	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chr22:50879410delC	ENST00000216061.5	+	23	2925	c.2555delC	c.(2554-2556)gccfs	p.A852fs	PPP6R2_ENST00000359139.3_Frame_Shift_Del_p.A819fs|PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.A818fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.A819fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	852						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GGCCGGGAGGCCCCCCCGCTG	0.721																																																	0			22											16.0	19.0	18.0					22																	50879410		2198	4294	6492	49226276	SO:0001589	frameshift_variant	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2555delC	22.37:g.50879410delC	ENSP00000216061:p.Ala852fs		49226276	A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Del	DEL	ENST00000216061.5	37																																																																																					0.721	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678	
DMD	1756	hgsc.bcm.edu	37	X	32361293	32361293	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:32361293delT	ENST00000357033.4	-	40	5903	c.5697delA	c.(5695-5697)aaafs	p.K1899fs	DMD_ENST00000378677.2_Frame_Shift_Del_p.K1895fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1899	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGCTGGCTAATTTTTTTTCAA	0.358																																																	0			X	GRCh37	CD050845	DMD	D							101.0	93.0	96.0					X																	32361293		2202	4300	6502	32271214	SO:0001589	frameshift_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5697delA	X.37:g.32361293delT	ENSP00000354923:p.Lys1899fs		32271214	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	ENST00000357033.4	37	CCDS14233.1																																																																																				0.358	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
MAGED4	728239	hgsc.bcm.edu	37	X	51930908	51930909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:51930908_51930909insC	ENST00000375626.3	+	4	1270_1271	c.1215_1216insC	c.(1216-1218)cccfs	p.P406fs	SNORA11D_ENST00000408548.1_RNA|MAGED4_ENST00000479281.1_3'UTR|MAGED4_ENST00000416960.1_Frame_Shift_Ins_p.P406fs	NM_001098800.1	NP_001092270.1	Q96JG8	MAGD4_HUMAN	melanoma antigen family D, 4	406												Ovarian(276;0.236)					TACTGTGCCTGCCCCCCCGCAA	0.653																																																	0			X																																								51947649	SO:0001589	frameshift_variant	728239			AF320908	CCDS48116.1, CCDS65261.1	Xp11	2009-06-03			ENSG00000154545	ENSG00000154545			23793	protein-coding gene	gene with protein product		300702				11406556	Standard	NM_001272061		Approved	MAGE1, MGC3210, KIAA1859, MAGE-E1	uc004dpr.4	Q96JG8	OTTHUMG00000042235	ENST00000375626.3:c.1222dupC	X.37:g.51930915_51930915dupC	ENSP00000364777:p.Pro406fs		51947648	A8K093|Q5HYN6|Q8WXW4|Q9BQ84|Q9BVH1|Q9BYH3|Q9BYH4|Q9H217	Frame_Shift_Ins	INS	ENST00000375626.3	37	CCDS48116.1																																																																																				0.653	MAGED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100439.1	NM_001098800	
IL2RG	3561	hgsc.bcm.edu	37	X	70327614	70327614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:70327614delG	ENST00000374202.2	-	8	1173	c.1082delC	c.(1081-1083)ccafs	p.P361fs	CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000374188.3_Frame_Shift_Del_p.P90fs|IL2RG_ENST00000456850.2_Frame_Shift_Del_p.P171fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGTGTAACATGGGGGGGCCCA	0.582									Severe Combined Immunodeficiency, X-linked																																								0			X											34.0	34.0	34.0					X																	70327614		2203	4293	6496	70244339	SO:0001589	frameshift_variant	3561	Familial Cancer Database	Agammaglobulinemia, Swiss Type	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1082delC	X.37:g.70327614delG	ENSP00000363318:p.Pro361fs		70244339	Q5FC12	Frame_Shift_Del	DEL	ENST00000374202.2	37	CCDS14406.1																																																																																				0.582	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2		
KLHL4	56062	hgsc.bcm.edu	37	X	86877231	86877231	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:86877231delA	ENST00000373119.4	+	5	1090	c.945delA	c.(943-945)atafs	p.I315fs	KLHL4_ENST00000373114.4_Frame_Shift_Del_p.I315fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	315						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTGAGGTAATAAAAAACCAAG	0.333																																																	0			X											65.0	57.0	60.0					X																	86877231		2203	4300	6503	86763887	SO:0001589	frameshift_variant	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.945delA	X.37:g.86877231delA	ENSP00000362211:p.Ile315fs		86763887	B2RTW2|Q9Y3J5	Frame_Shift_Del	DEL	ENST00000373119.4	37	CCDS14457.1																																																																																				0.333	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
PCDH19	57526	hgsc.bcm.edu	37	X	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)ccgfs	p.P364fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607																																																	1	Deletion - Frameshift(1)	large_intestine(1)	X											43.0	47.0	46.0					X																	99662505		2188	4265	6453	99549161	SO:0001589	frameshift_variant	57575			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1091delC	X.37:g.99662505delG	ENSP00000362125:p.Pro364fs		99549161	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	ENST00000373034.4	37	CCDS55462.1																																																																																				0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
TENM1	10178	hgsc.bcm.edu	37	X	123870951	123870951	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:123870951delG	ENST00000371130.3	-	4	695	c.632delC	c.(631-633)cctfs	p.P211fs	TENM1_ENST00000422452.2_Frame_Shift_Del_p.P211fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	211	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTCCGCTGCAGGGGGTGGCTT	0.622																																																	0			X											75.0	75.0	75.0					X																	123870951		2203	4300	6503	123698632	SO:0001589	frameshift_variant	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.632delC	X.37:g.123870951delG	ENSP00000360171:p.Pro211fs		123698632	B2RTR5|Q5JZ17	Frame_Shift_Del	DEL	ENST00000371130.3	37	CCDS14609.1																																																																																				0.622	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
BCORL1	63035	hgsc.bcm.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:129190011delC	ENST00000218147.7	+	13	5233	c.5036delC	c.(5035-5037)tccfs	p.S1679fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.S1549fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.S1679fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.S1753fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1679					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACGACAGATCCCCCCCAGGC	0.602																																																	0			X																																								129017692	SO:0001589	frameshift_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5036delC	X.37:g.129190011delC	ENSP00000218147:p.Ser1679fs		129017692	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	CCDS14616.1																																																																																				0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
SLITRK2	84631	hgsc.bcm.edu	37	X	144904118	144904118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrX:144904118delC	ENST00000370490.1	+	1	4430	c.175delC	c.(175-177)cccfs	p.P60fs	SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.P60fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.P60fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.P60fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.P60fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	60					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTCCAGCCCCCCCAGTA	0.428																																																	0			X											94.0	84.0	87.0					X																	144904118		2203	4300	6503	144711810	SO:0001589	frameshift_variant	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.175delC	X.37:g.144904118delC	ENSP00000359521:p.Pro60fs		144711810	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Del	DEL	ENST00000370490.1	37	CCDS14680.1																																																																																				0.428	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
CDY2B	203611	hgsc.bcm.edu	37	Y	19990849	19990850	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrY:19990849_19990850insT	ENST00000382867.3	-	1	1250_1251	c.923_924insA	c.(922-924)aatfs	p.N308fs	CDY2B_ENST00000544303.1_Frame_Shift_Ins_p.N308fs	NM_001001722.1	NP_001001722.1	Q9Y6F7	CDY2_HUMAN	chromodomain protein, Y-linked, 2B	308					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)										TATTCAGTGCATTTTTTTCTGT	0.416																																																	0			Y																																								18500244	SO:0001589	frameshift_variant	203611			BC069087	CCDS35473.1	Yq11.222	2010-05-12			ENSG00000129873	ENSG00000129873			23921	protein-coding gene	gene with protein product						9381176, 10192397	Standard	NM_001001722		Approved	CDY		Q9Y6F7	OTTHUMG00000041652	ENST00000382867.3:c.924dupA	Y.37:g.19990856_19990856dupT	ENSP00000372319:p.Asn308fs		18500243	A8K868	Frame_Shift_Ins	INS	ENST00000382867.3	37	CCDS35473.1																																																																																				0.416	CDY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099653.1	NM_001001722	
CDY2A	9426	hgsc.bcm.edu	37	Y	20138910	20138911	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EI-6507-01A-11D-1733-10	TCGA-EI-6507-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	90b4f72f-2958-456b-8332-da30e09c110e	d8763e98-bd73-4505-83eb-9cb436a5a791	g.chrY:20138910_20138911insA	ENST00000250838.4	+	1	1244_1245	c.916_917insA	c.(916-918)gaafs	p.E306fs	CDY2A_ENST00000426790.1_Frame_Shift_Ins_p.E306fs	NM_004825.2	NP_004816.1	Q9Y6F7	CDY2_HUMAN	chromodomain protein, Y-linked, 2A	306					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)			breast(1)	1						TAGATCGACAGAAAAAAATGCA	0.421																																																	0			Y																																								18648305	SO:0001589	frameshift_variant	203611			AF080598	CCDS14789.1	Yq11.222	2010-05-12	2005-12-16	2005-12-16	ENSG00000182415	ENSG00000182415			1810	protein-coding gene	gene with protein product		400018	"""chromodomain protein, Y chromosome, 2"", ""chromodomain protein, Y-linked, 2"""	CDY2		10192397	Standard	NM_004825		Approved		uc004ftl.1	Q9Y6F7	OTTHUMG00000041657	ENST00000250838.4:c.923dupA	Y.37:g.20138917_20138917dupA	ENSP00000250838:p.Glu306fs		18648304	A8K868	Frame_Shift_Ins	INS	ENST00000250838.4	37	CCDS14789.1																																																																																				0.421	CDY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099658.1	NM_004825	
