#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
DNAH11	8701	hgsc.bcm.edu	37	7	21654801	21654801	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr7:21654801G>A	ENST00000409508.3	+	21	3953	c.3922G>A	c.(3922-3924)Gtg>Atg	p.V1308M	DNAH11_ENST00000328843.6_Missense_Mutation_p.V1308M	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1308	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTTTTTGAAGTGGCTCTTCC	0.393									Kartagener syndrome																																								0			7											127.0	120.0	122.0					7																	21654801		1849	4096	5945	21621326	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3922G>A	7.37:g.21654801G>A	ENSP00000475939:p.Val1308Met	Somatic		Capture	Illumina HiSeq	Phase_I	21621326	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	23.0	4.357546	0.82243	.	.	ENSG00000105877	ENST00000328843	T	0.25250	1.81	5.37	5.37	0.77165	.	0.559829	0.18755	N	0.132066	T	0.36826	0.0981	.	.	.	0.54753	D	0.999987	P	0.52577	0.954	P	0.50708	0.648	T	0.04537	-1.0944	9	0.49607	T	0.09	.	13.7695	0.63015	0.0764:0.0:0.9236:0.0	.	1308	Q96DT5	DYH11_HUMAN	M	1308	ENSP00000330671:V1308M	ENSP00000330671:V1308M	V	+	1	0	DNAH11	21621326	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.903000	0.87398	2.659000	0.90383	0.655000	0.94253	GTG		DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
MAGI2	9863	hgsc.bcm.edu	37	7	77885428	77885428	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr7:77885428G>A	ENST00000354212.4	-	10	2132	c.1879C>T	c.(1879-1881)Cgg>Tgg	p.R627W	MAGI2_ENST00000419488.1_Missense_Mutation_p.R627W|MAGI2_ENST00000536571.1_Missense_Mutation_p.R459W|MAGI2_ENST00000535697.1_Missense_Mutation_p.R464W|MAGI2_ENST00000522391.1_Missense_Mutation_p.R627W	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	627	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGTTTCACCCGCTGTCCTGTA	0.517																																																	0			7											71.0	61.0	64.0					7																	77885428		2203	4300	6503	77723364	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1879C>T	7.37:g.77885428G>A	ENSP00000346151:p.Arg627Trp	Somatic		Capture	Illumina HiSeq	Phase_I	77723364	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245718	0.59103	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.74	3.76	0.43208	PDZ/DHR/GLGF (4);	0.000000	0.33457	U	0.004881	T	0.56232	0.1971	M	0.81802	2.56	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.992;0.988;1.0;1.0;0.994;0.998	T	0.63427	-0.6640	10	0.87932	D	0	.	13.0805	0.59112	0.0:0.0:0.6243:0.3757	.	464;459;627;627;627;627	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	W	627;627;627;627;459;464	ENSP00000405766:R627W;ENSP00000346151:R627W;ENSP00000428389:R627W;ENSP00000441584:R459W;ENSP00000441603:R464W	ENSP00000346151:R627W	R	-	1	2	MAGI2	77723364	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.393000	0.34497	1.407000	0.46875	0.561000	0.74099	CGG		MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
SAMD9	54809	hgsc.bcm.edu	37	7	92731562	92731562	+	Silent	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr7:92731562A>G	ENST00000379958.2	-	3	4118	c.3849T>C	c.(3847-3849)aaT>aaC	p.N1283N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1283						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGCTTAATATTGTTCCTGG	0.289																																																	0			7											53.0	61.0	58.0					7																	92731562		2199	4293	6492	92569498	SO:0001819	synonymous_variant	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3849T>C	7.37:g.92731562A>G		Somatic		Capture	Illumina HiSeq	Phase_I	92569498	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	CCDS34680.1																																																																																				SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
PARP12	64761	hgsc.bcm.edu	37	7	139727183	139727183	+	Silent	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr7:139727183C>T	ENST00000263549.3	-	10	2394	c.1521G>A	c.(1519-1521)tcG>tcA	p.S507S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	507	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GATACTCTTCCGAGGAAGAAC	0.453																																																	0			7											109.0	106.0	107.0					7																	139727183		2203	4300	6503	139373652	SO:0001819	synonymous_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1521G>A	7.37:g.139727183C>T		Somatic		Capture	Illumina HiSeq	Phase_I	139373652	Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	CCDS5857.1																																																																																				PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	SNP	C	C	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chrUnknown:0C>A								None (None upstream) : None (None downstream)																								0																																																	0			7																																								142179877	SO:0001628	intergenic_variant	5645																															Unknown.37:g.0C>A		Somatic		Capture	Illumina HiSeq	Phase_I	142179877		Missense_Mutation	SNP		37																																																																																				0								
SSPO	23145	hgsc.bcm.edu	37	7	149498993	149498993	+	RNA	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr7:149498993G>A	ENST00000378016.2	+	0	7445							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGAGCGGCGCTGTGACCTG	0.672																																																	0			7											28.0	31.0	30.0					7																	149498993		2154	4245	6399	149129926			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149498993G>A		Somatic		Capture	Illumina HiSeq	Phase_I	149129926	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																					SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
PREX1	57580	hgsc.bcm.edu	37	20	47266636	47266636	+	Missense_Mutation	SNP	G	G	C	rs368033397		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr20:47266636G>C	ENST00000371941.3	-	24	2948	c.2926C>G	c.(2926-2928)Ctc>Gtc	p.L976V	PREX1_ENST00000396220.1_Missense_Mutation_p.L976V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	976					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTTCCATGAGGTTGATGTGG	0.617																																																	0			20											112.0	115.0	114.0					20																	47266636		2203	4300	6503	46700043	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2926C>G	20.37:g.47266636G>C	ENSP00000361009:p.Leu976Val	Somatic		Capture	Illumina HiSeq	Phase_I	46700043	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	9.686	1.150571	0.21371	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.41758	0.99;0.99	5.71	2.54	0.30619	.	0.129470	0.33875	U	0.004469	T	0.26521	0.0648	L	0.29908	0.895	0.45502	D	0.998466	B;P	0.35780	0.002;0.52	B;B	0.34824	0.011;0.19	T	0.03086	-1.1074	10	0.15066	T	0.55	.	9.7637	0.40548	0.0656:0.0:0.6839:0.2505	.	976;273	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	V	976	ENSP00000361009:L976V;ENSP00000379522:L976V	ENSP00000361009:L976V	L	-	1	0	PREX1	46700043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.657000	0.37366	0.280000	0.22209	0.655000	0.94253	CTC		PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
CHEK2	11200	hgsc.bcm.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496|rs146546850	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T|G	T|G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr22:29091840_29091841TG>CA	ENST00000405598.1	-	12	1307_1308	c.1116_1117CA>TG	c.(1114-1119)tcCAag>tcTGag	p.K373E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	17	Substitution - Missense(9)|Substitution - coding silent(8)	kidney(8)|prostate(4)|endometrium(2)|central_nervous_system(2)|stomach(1)	22																																								27421840|27421841	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116_1117delinsCA	22.37:g.29091840_29091841delinsCA	ENSP00000386087:p.Lys373Glu	Somatic		Capture	Illumina HiSeq	Phase_I	27421840|27421841	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation|Silent	SNP	ENST00000405598.1	37	CCDS13843.1																																																																																				CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
EP300	2033	hgsc.bcm.edu	37	22	41564512	41564512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr22:41564512C>T	ENST00000263253.7	+	24	5153	c.3934C>T	c.(3934-3936)Cga>Tga	p.R1312*	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1312	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				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)	p.R1312*(1)		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						CTTTCTGAGGCGACAGAATCA	0.428			"""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"""	1	Substitution - Nonsense(1)	ovary(1)	22											121.0	113.0	116.0					22																	41564512		2203	4300	6503	39894458	SO:0001587	stop_gained	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.3934C>T	22.37:g.41564512C>T	ENSP00000263253:p.Arg1312*	Somatic		Capture	Illumina HiSeq	Phase_I	39894458	B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	51	18.252331	0.99902	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.75	3.52	0.40303	.	0.000000	0.40818	N	0.001006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3062	13.8573	0.63537	0.4746:0.5254:0.0:0.0	.	.	.	.	X	1312	.	ENSP00000263253:R1312X	R	+	1	2	EP300	39894458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.771000	0.26633	1.397000	0.46682	0.557000	0.71058	CGA		EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
CYP2D6	1565	hgsc.bcm.edu	37	22	42524322	42524322	+	Missense_Mutation	SNP	T	T	A	rs574057781		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr22:42524322T>A	ENST00000360608.5	-	5	811	c.697A>T	c.(697-699)Atc>Ttc	p.I233F	CYP2D6_ENST00000359033.4_Missense_Mutation_p.I182F|CYP2D6_ENST00000389970.3_Missense_Mutation_p.I233F|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	233					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGCGCTGGGATATGCAGGAGG	0.592																																																	0			22											70.0	61.0	64.0					22																	42524322		2197	4300	6497	40854266	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.697A>T	22.37:g.42524322T>A	ENSP00000353820:p.Ile233Phe	Somatic		Capture	Illumina HiSeq	Phase_I	40854266	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343594	0.61073	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.66280	-0.2;-0.2;-0.2	4.55	2.38	0.29361	.	0.141592	0.47852	D	0.000201	T	0.57975	0.2090	L	0.37561	1.115	0.45733	D	0.998635	P;P	0.49253	0.921;0.594	P;P	0.51742	0.678;0.676	T	0.53287	-0.8460	10	0.46703	T	0.11	.	8.2626	0.31795	0.0:0.1729:0.0:0.8271	.	182;233	Q6NXU8;Q6NWU0	.;.	F	233;233;179;182;182	ENSP00000353820:I233F;ENSP00000374620:I233F;ENSP00000351927:I182F	ENSP00000351927:I182F	I	-	1	0	CYP2D6	40854266	0.329000	0.24696	0.694000	0.30210	0.016000	0.09150	0.437000	0.21543	0.207000	0.20607	0.397000	0.26171	ATC		CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
IL17REL	400935	hgsc.bcm.edu	37	22	50439538	50439538	+	Missense_Mutation	SNP	G	G	A	rs147243670		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr22:50439538G>A	ENST00000389983.2	-	4	346	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	IL17REL_ENST00000341280.5_Missense_Mutation_p.R28C	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	28										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCGTACACGCAGGAGCATC	0.652																																																	0			22											39.0	31.0	34.0					22																	50439538		2194	4294	6488	48781665	SO:0001583	missense	400935			AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.82C>T	22.37:g.50439538G>A	ENSP00000374633:p.Arg28Cys	Somatic		Capture	Illumina HiSeq	Phase_I	48781665	A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	g	16.61	3.170922	0.57584	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.26660	1.72;1.72	3.16	2.03	0.26663	.	0.606522	0.14777	U	0.298998	T	0.30541	0.0768	L	0.40543	1.245	0.09310	N	0.999999	D	0.71674	0.998	P	0.56916	0.809	T	0.04737	-1.0930	10	0.87932	D	0	.	6.4872	0.22095	0.0:0.0:0.6826:0.3174	.	28	Q6ZVW7	I17EL_HUMAN	C	28	ENSP00000374633:R28C;ENSP00000342520:R28C	ENSP00000342520:R28C	R	-	1	0	IL17REL	48781665	0.396000	0.25262	0.097000	0.21041	0.053000	0.15095	1.299000	0.33424	1.591000	0.50007	0.651000	0.88453	CGT		IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694	
TGIF2LY	90655	hgsc.bcm.edu	37	Y	3447837	3447837	+	Silent	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chrY:3447837G>A	ENST00000559055.2	+	1	682	c.552G>A	c.(550-552)ccG>ccA	p.P184P	TGIF2LY_ENST00000321217.4_Silent_p.P184P			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|upper_aerodigestive_tract(1)	2						GAAGCTCACCGGAATAGCCCA	0.537																																																	0			Y											27.0	33.0	31.0					Y																	3447837		610	1951	2561	3507837	SO:0001819	synonymous_variant	90655			AF332223	CCDS14775.1	Yp11.2	2011-06-20	2007-02-07		ENSG00000176679	ENSG00000176679		"""Homeoboxes / TALE class"""	18569	protein-coding gene	gene with protein product		400025	"""TGFB-induced factor 2-like, Y-linked"""				Standard	NM_139214		Approved		uc004fqk.3	Q8IUE0	OTTHUMG00000036153	ENST00000559055.2:c.552G>A	Y.37:g.3447837G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3507837	A2VCU1	Silent	SNP	ENST00000559055.2	37	CCDS14775.1																																																																																				TGIF2LY-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417915.2	NM_139214	
DPY19L3	147991	hgsc.bcm.edu	37	19	32927392	32927392	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr19:32927392G>T	ENST00000342179.5	+	5	584	c.369G>T	c.(367-369)atG>atT	p.M123I	DPY19L3_ENST00000392250.2_Missense_Mutation_p.M123I|DPY19L3_ENST00000586987.1_Missense_Mutation_p.M123I	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	123						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTGAATCTATGAAGACAATTA	0.289																																																	0			19											56.0	62.0	60.0					19																	32927392		2201	4288	6489	37619232	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.369G>T	19.37:g.32927392G>T	ENSP00000344937:p.Met123Ile	Somatic		Capture	Illumina HiSeq	Phase_I	37619232	Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759383	0.49468	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.54071	0.59;0.59	5.87	5.87	0.94306	.	0.140544	0.64402	D	0.000004	T	0.49218	0.1544	L	0.51422	1.61	0.33347	D	0.570627	B	0.30146	0.27	B	0.24541	0.054	T	0.55231	-0.8173	10	0.26408	T	0.33	-23.9901	20.2191	0.98319	0.0:0.0:1.0:0.0	.	123	Q6ZPD9	D19L3_HUMAN	I	123	ENSP00000376081:M123I;ENSP00000344937:M123I	ENSP00000315672:M123I	M	+	3	0	DPY19L3	37619232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.418000	0.59828	2.780000	0.95670	0.655000	0.94253	ATG		DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325	
CEACAM3	1084	hgsc.bcm.edu	37	19	42312886	42312886	+	Missense_Mutation	SNP	G	G	A	rs377521292		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr19:42312886G>A	ENST00000357396.3	+	3	701	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A154T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A154T	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	154						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GGGGGCCGTCGCCGGCATCGT	0.607																																																	0			19						G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	113.0	117.0	116.0		460	0.3	0.0	19		116	0,8600		0,0,4300	no	missense	CEACAM3	NM_001815.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	154/253	42312886	1,13005	2203	4300	6503	47004726	SO:0001583	missense	90273			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.460G>A	19.37:g.42312886G>A	ENSP00000349971:p.Ala154Thr	Somatic		Capture	Illumina HiSeq	Phase_I	47004726	G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527784	0.27299	2.27E-4	0.0	ENSG00000170956	ENST00000357396;ENST00000221999;ENST00000344550	T;T;T	0.01685	4.69;4.73;4.73	2.79	0.354	0.16063	.	.	.	.	.	T	0.04048	0.0113	M	0.85777	2.775	0.09310	N	1	D;D	0.57899	0.981;0.968	P;B	0.50570	0.644;0.441	T	0.32134	-0.9918	9	0.09590	T	0.72	.	3.6759	0.08291	0.1499:0.0:0.6094:0.2406	.	154;154	G5E978;P40198	.;CEAM3_HUMAN	T	154	ENSP00000349971:A154T;ENSP00000221999:A154T;ENSP00000341725:A154T	ENSP00000221999:A154T	A	+	1	0	CEACAM3	47004726	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.769000	0.04710	0.011000	0.14865	0.514000	0.50259	GCC		CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815	
MARK4	57787	hgsc.bcm.edu	37	19	45783945	45783945	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr19:45783945G>A	ENST00000262891.4	+	12	1560	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	MARK4_ENST00000300843.4_Missense_Mutation_p.R410Q	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	410					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.R410Q(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AAAGGGCAGCGGAGTTCCTCT	0.662																																																	1	Substitution - Missense(1)	ovary(1)	19											97.0	78.0	85.0					19																	45783945		2203	4300	6503	50475785	SO:0001583	missense	57787			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1229G>A	19.37:g.45783945G>A	ENSP00000262891:p.Arg410Gln	Somatic		Capture	Illumina HiSeq	Phase_I	50475785	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376741	0.95945	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.35421	1.31;1.31	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.62877	0.2464	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	P;D;D	0.75484	0.769;0.978;0.986	T	0.62656	-0.6808	10	0.52906	T	0.07	.	17.7884	0.88545	0.0:0.0:1.0:0.0	.	276;410;410	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	Q	410	ENSP00000262891:R410Q;ENSP00000300843:R410Q	ENSP00000262891:R410Q	R	+	2	0	MARK4	50475785	1.000000	0.71417	0.993000	0.49108	0.939000	0.58152	6.619000	0.74219	2.804000	0.96469	0.462000	0.41574	CGG		MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417	
SLC6A16	28968	hgsc.bcm.edu	37	19	49814193	49814193	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr19:49814193C>T	ENST00000335875.4	-	2	653	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.G138S	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	138					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)		GACTTACAGCCTCCACTGTTA	0.502																																																	0			19											71.0	65.0	67.0					19																	49814193		1863	4100	5963	54506005	SO:0001583	missense	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.412G>A	19.37:g.49814193C>T	ENSP00000338627:p.Gly138Ser	Somatic		Capture	Illumina HiSeq	Phase_I	54506005	Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821270	0.71028	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	D;D	0.97138	-4.26;-4.26	5.11	-0.069	0.13753	.	0.058272	0.64402	N	0.000002	D	0.97739	0.9258	M	0.89715	3.055	0.46609	D	0.999124	D;D	0.69078	0.997;0.997	P;P	0.62649	0.905;0.905	D	0.95685	0.8735	10	0.87932	D	0	.	5.2105	0.15314	0.0:0.5451:0.1464:0.3085	.	138;138	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	S	138	ENSP00000338627:G138S;ENSP00000404022:G138S	ENSP00000338627:G138S	G	-	1	0	SLC6A16	54506005	0.994000	0.37717	0.075000	0.20258	0.028000	0.11728	2.641000	0.46587	-0.014000	0.14175	0.655000	0.94253	GGC		SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037	
ZNF610	162963	hgsc.bcm.edu	37	19	52869756	52869756	+	Silent	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr19:52869756C>T	ENST00000403906.3	+	6	1581	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	ZNF610_ENST00000327920.8_Silent_p.N375N|ZNF610_ENST00000601151.1_Silent_p.N332N|ZNF610_ENST00000321287.8_Silent_p.N375N	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ACAAATGTAACGAATGTGGAA	0.403																																																	0			19											82.0	84.0	84.0					19																	52869756		2203	4300	6503	57561568	SO:0001819	synonymous_variant	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1125C>T	19.37:g.52869756C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57561568	A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	CCDS12851.1																																																																																				ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530	
ZNF347	84671	hgsc.bcm.edu	37	19	53652530	53652530	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr19:53652530C>T	ENST00000334197.7	-	3	174	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.V36M|ZNF347_ENST00000452676.2_Missense_Mutation_p.V36M	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	36	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)	p.V36M(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCCAACATCACGTCCCTGTAC	0.493																																					Melanoma(64;205 1597 17324 45721)												1	Substitution - Missense(1)	endometrium(1)	19											121.0	124.0	123.0					19																	53652530		2203	4300	6503	58344342	SO:0001583	missense	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.106G>A	19.37:g.53652530C>T	ENSP00000334146:p.Val36Met	Somatic		Capture	Illumina HiSeq	Phase_I	58344342	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248955	0.22880	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.04015	3.73;3.73	2.38	2.38	0.29361	Krueppel-associated box (4);	.	.	.	.	T	0.25975	0.0633	H	0.95260	3.645	0.23464	N	0.997621	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.984	T	0.08269	-1.0730	9	0.87932	D	0	.	5.0786	0.14644	0.0:0.826:0.0:0.174	.	36;36	G5E9N4;Q96SE7	.;ZN347_HUMAN	M	36	ENSP00000334146:V36M;ENSP00000405218:V36M	ENSP00000334146:V36M	V	-	1	0	ZNF347	58344342	0.779000	0.28652	0.707000	0.30419	0.020000	0.10135	1.234000	0.32660	1.337000	0.45525	0.591000	0.81541	GTG		ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
NLRP12	91662	hgsc.bcm.edu	37	19	54314025	54314025	+	Silent	SNP	G	G	A	rs538564043		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr19:54314025G>A	ENST00000324134.6	-	3	1056	c.888C>T	c.(886-888)ttC>ttT	p.F296F	NLRP12_ENST00000535162.1_Silent_p.F296F|NLRP12_ENST00000345770.5_Silent_p.F296F|NLRP12_ENST00000391772.1_Silent_p.F296F|NLRP12_ENST00000391775.3_Silent_p.F296F|NLRP12_ENST00000354278.3_Silent_p.F296F|NLRP12_ENST00000391773.1_Silent_p.F296F|NLRP12_ENST00000351894.4_Silent_p.F296F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	296	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGAGCTCATCGAAGCCGTCGA	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17741	0.0		0.0	False		,,,				2504	0.0																0			19											47.0	48.0	48.0					19																	54314025		2203	4300	6503	59005837	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.888C>T	19.37:g.54314025G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59005837	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1																																																																																				NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
LILRA4	23547	hgsc.bcm.edu	37	19	54848271	54848271	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr19:54848271G>A	ENST00000291759.4	-	6	1152	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	366	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GATCTCAGACGCAACGGGGGA	0.587																																																	0			19											158.0	146.0	150.0					19																	54848271		2203	4300	6503	59540083	SO:0001583	missense	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1096C>T	19.37:g.54848271G>A	ENSP00000291759:p.Arg366Cys	Somatic		Capture	Illumina HiSeq	Phase_I	59540083	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	7.586	0.669823	0.14776	.	.	ENSG00000239961	ENST00000291759	T	0.03181	4.02	2.51	-4.04	0.04010	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.685783	0.12505	N	0.463016	T	0.03434	0.0099	L	0.50847	1.595	0.09310	N	1	B	0.24258	0.1	B	0.27170	0.077	T	0.38329	-0.9666	10	0.49607	T	0.09	.	3.2998	0.06979	0.5097:0.0:0.2945:0.1958	.	366	P59901	LIRA4_HUMAN	C	366	ENSP00000291759:R366C	ENSP00000291759:R366C	R	-	1	0	LILRA4	59540083	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.042000	0.13949	-0.817000	0.04335	0.455000	0.32223	CGT		LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276	
NCR1	9437	hgsc.bcm.edu	37	19	55418070	55418070	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr19:55418070A>G	ENST00000291890.4	+	3	298	c.260A>G	c.(259-261)gAc>gGc	p.D87G	NCR1_ENST00000447255.1_Missense_Mutation_p.D87G|NCR1_ENST00000338835.5_Missense_Mutation_p.D87G|NCR1_ENST00000598576.1_Missense_Mutation_p.D75G|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000594765.1_Missense_Mutation_p.D87G|NCR1_ENST00000357397.5_Intron	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	87	Ig-like 1.		D -> Y (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TACATCCCGGACATGAACTCC	0.527																																																	0			19											76.0	79.0	78.0					19																	55418070		2203	4300	6503	60109882	SO:0001583	missense	9437			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.260A>G	19.37:g.55418070A>G	ENSP00000291890:p.Asp87Gly	Somatic		Capture	Illumina HiSeq	Phase_I	60109882	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	A	7.906	0.735491	0.15574	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.09445	2.98;2.98;2.98	3.74	-3.02	0.05446	Immunoglobulin-like fold (1);	2.570310	0.01184	N	0.007141	T	0.09335	0.0230	L	0.34521	1.04	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.15484	0.013;0.004;0.007	T	0.36986	-0.9725	10	0.42905	T	0.14	.	6.5141	0.22239	0.644:0.2547:0.0:0.1012	.	87;87;87	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	G	87	ENSP00000291890:D87G;ENSP00000404434:D87G;ENSP00000339515:D87G	ENSP00000291890:D87G	D	+	2	0	NCR1	60109882	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.284000	0.08422	-0.408000	0.07565	-0.310000	0.09108	GAC		NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1		
NEFL	4747	hgsc.bcm.edu	37	8	24813787	24813787	+	RNA	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr8:24813787G>A	ENST00000221169.5	-	0	837				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ACTTGAGGTCGTTGCTGATGG	0.627																																																	0			8											30.0	34.0	32.0					8																	24813787		2169	4274	6443	24869704			4747				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813787G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24869704	B9ZVN2|Q16154|Q8IU72	Silent	SNP	ENST00000221169.5	37																																																																																					NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158	
PLAG1	5324	hgsc.bcm.edu	37	8	57079935	57079935	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr8:57079935C>T	ENST00000316981.3	-	5	849	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	PLAG1_ENST00000429357.2_Missense_Mutation_p.E124K|PLAG1_ENST00000423799.2_Missense_Mutation_p.E42K	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	124	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCACATTCTTCGCACTTAAAC	0.428			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0			8											158.0	116.0	130.0					8																	57079935		2202	4300	6502	57242489	SO:0001583	missense	5324			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.370G>A	8.37:g.57079935C>T	ENSP00000325546:p.Glu124Lys	Somatic		Capture	Illumina HiSeq	Phase_I	57242489	B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225010	0.58668	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.50813	0.73;0.73;0.73	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.218976	0.48286	D	0.000190	T	0.37237	0.0996	L	0.33093	0.98	0.47778	D	0.999513	P	0.44627	0.839	B	0.33568	0.166	T	0.28106	-1.0054	10	0.41790	T	0.15	-21.0199	19.5003	0.95091	0.0:1.0:0.0:0.0	.	124	Q6DJT9	PLAG1_HUMAN	K	124;42;124	ENSP00000325546:E124K;ENSP00000404067:E42K;ENSP00000416537:E124K	ENSP00000325546:E124K	E	-	1	0	PLAG1	57242489	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.926000	0.48892	2.594000	0.87642	0.585000	0.79938	GAA		PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655	
CSMD3	114788	hgsc.bcm.edu	37	8	113267537	113267537	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr8:113267537T>C	ENST00000297405.5	-	62	10226	c.9982A>G	c.(9982-9984)Acc>Gcc	p.T3328A	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3288A|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3258A|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3159A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3328	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATATTCTGGTGCTTGATCCC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0			8											133.0	120.0	124.0					8																	113267537		2203	4300	6503	113336713	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9982A>G	8.37:g.113267537T>C	ENSP00000297405:p.Thr3328Ala	Somatic		Capture	Illumina HiSeq	Phase_I	113336713	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380700	0.61845	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.19	4.03	0.46877	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.69531	0.3121	L	0.60012	1.86	0.40164	D	0.977093	D;D;B	0.69078	0.996;0.997;0.376	D;D;B	0.71870	0.957;0.975;0.233	T	0.67237	-0.5721	10	0.07990	T	0.79	.	11.5802	0.50887	0.1335:0.0:0.0:0.8664	.	3159;3328;3288	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3288;3328;2598;3159;3258	ENSP00000345799:T3288A;ENSP00000297405:T3328A;ENSP00000341558:T2598A;ENSP00000412263:T3159A;ENSP00000343124:T3258A	ENSP00000297405:T3328A	T	-	1	0	CSMD3	113336713	1.000000	0.71417	0.997000	0.53966	0.849000	0.48306	5.909000	0.69923	0.982000	0.38575	-0.336000	0.08194	ACC		CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu	37	8	113303837	113303837	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr8:113303837A>G	ENST00000297405.5	-	56	9120	c.8876T>C	c.(8875-8877)gTa>gCa	p.V2959A	CSMD3_ENST00000343508.3_Missense_Mutation_p.V2919A|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2889A|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2790A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2959	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCATAGAATACCACAGTGCC	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0			8											125.0	124.0	124.0					8																	113303837		2203	4298	6501	113373013	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8876T>C	8.37:g.113303837A>G	ENSP00000297405:p.Val2959Ala	Somatic		Capture	Illumina HiSeq	Phase_I	113373013	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220516	0.79464	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.35	5.35	0.76521	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000012	D	0.83562	0.5281	M	0.78916	2.43	0.58432	D	0.999991	D;D;D	0.76494	0.994;0.999;0.961	D;D;P	0.87578	0.986;0.998;0.774	T	0.83229	-0.0064	10	0.35671	T	0.21	.	15.6317	0.76917	1.0:0.0:0.0:0.0	.	2790;2959;2919	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	2919;2959;2229;2790;2889	ENSP00000345799:V2919A;ENSP00000297405:V2959A;ENSP00000341558:V2229A;ENSP00000412263:V2790A;ENSP00000343124:V2889A	ENSP00000297405:V2959A	V	-	2	0	CSMD3	113373013	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	9.255000	0.95524	2.146000	0.66826	0.482000	0.46254	GTA		CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
DMBX1	127343	hgsc.bcm.edu	37	1	46977882	46977882	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:46977882G>A	ENST00000360032.3	+	4	864	c.850G>A	c.(850-852)Ggg>Agg	p.G284R	DMBX1_ENST00000371956.4_Missense_Mutation_p.G289R	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTTCGAAGTAGGGGGTCCGGC	0.647																																																	0			1											35.0	37.0	36.0					1																	46977882		2203	4299	6502	46750469	SO:0001583	missense	127343			AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.850G>A	1.37:g.46977882G>A	ENSP00000353132:p.Gly284Arg	Somatic		Capture	Illumina HiSeq	Phase_I	46750469		Missense_Mutation	SNP	ENST00000360032.3	37	CCDS536.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870597	0.72065	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93712	-3.18;-3.27	5.46	4.54	0.55810	.	0.476895	0.22990	N	0.053201	D	0.92541	0.7631	L	0.34521	1.04	0.42064	D	0.991176	P;D	0.54964	0.948;0.969	P;P	0.54499	0.572;0.754	D	0.91903	0.5533	10	0.38643	T	0.18	.	14.9902	0.71381	0.0:0.0:0.8564:0.1436	.	289;284	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	R	289;284	ENSP00000361024:G289R;ENSP00000353132:G284R	ENSP00000353132:G284R	G	+	1	0	DMBX1	46750469	1.000000	0.71417	0.988000	0.46212	0.493000	0.33554	6.048000	0.71046	1.416000	0.47057	0.655000	0.94253	GGG		DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1		
KANK4	163782	hgsc.bcm.edu	37	1	62737156	62737156	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:62737156T>C	ENST00000371153.4	-	4	2384	c.2006A>G	c.(2005-2007)aAc>aGc	p.N669S	KANK4_ENST00000354381.3_Missense_Mutation_p.N41S|KANK4_ENST00000371150.1_Missense_Mutation_p.N25S	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	669						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTACCCACCGTTAACCCCAAC	0.478																																																	0			1											197.0	182.0	187.0					1																	62737156		2203	4300	6503	62509744	SO:0001583	missense	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2006A>G	1.37:g.62737156T>C	ENSP00000360195:p.Asn669Ser	Somatic		Capture	Illumina HiSeq	Phase_I	62509744	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.720979	0.89205	.	.	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.73575	-0.76;-0.11;-0.74	5.67	5.67	0.87782	.	0.000000	0.43110	D	0.000603	D	0.87954	0.6308	M	0.86953	2.85	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.89824	0.3991	10	0.66056	D	0.02	-36.7437	15.924	0.79597	0.0:0.0:0.0:1.0	.	41;669	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	S	669;41;25	ENSP00000360195:N669S;ENSP00000346352:N41S;ENSP00000360192:N25S	ENSP00000346352:N41S	N	-	2	0	KANK4	62509744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.532000	0.81985	2.163000	0.67991	0.459000	0.35465	AAC		KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	
HRNR	388697	hgsc.bcm.edu	37	1	152193158	152193158	+	Missense_Mutation	SNP	G	G	A	rs201797889		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:152193158G>A	ENST00000368801.2	-	3	1022	c.947C>T	c.(946-948)tCg>tTg	p.S316L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	316					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGCCCCGAACCGGACCC	0.607																																																	0			1						G	LEU/SER	0,4406		0,0,2203	82.0	92.0	89.0		947	-0.9	0.0	1		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HRNR	NM_001009931.1	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	316/2851	152193158	2,13004	2203	4300	6503	150459782	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.947C>T	1.37:g.152193158G>A	ENSP00000357791:p.Ser316Leu	Somatic		Capture	Illumina HiSeq	Phase_I	150459782	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	9.470	1.095297	0.20471	0.0	2.33E-4	ENSG00000197915	ENST00000368801	T	0.01804	4.63	4.04	-0.89	0.10577	.	.	.	.	.	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	P	0.37864	0.61	B	0.21917	0.037	T	0.42275	-0.9461	9	0.27082	T	0.32	.	4.0184	0.09654	0.2066:0.0:0.4864:0.307	.	316	Q86YZ3	HORN_HUMAN	L	316	ENSP00000357791:S316L	ENSP00000357791:S316L	S	-	2	0	HRNR	150459782	0.056000	0.20664	0.000000	0.03702	0.001000	0.01503	0.903000	0.28475	-0.381000	0.07882	0.644000	0.83932	TCG		HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
FLG	2312	hgsc.bcm.edu	37	1	152282997	152282997	+	Silent	SNP	G	G	A	rs142950612		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:152282997G>A	ENST00000368799.1	-	3	4400	c.4365C>T	c.(4363-4365)caC>caT	p.H1455H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1455	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTCTGTCCGTGTGTGGACT	0.572									Ichthyosis				g|||	1	0.000199681	0.0008	0.0	5008	,	,		19930	0.0		0.0	False		,,,				2504	0.0																0			1						G		2,4404	4.2+/-10.8	0,2,2201	221.0	212.0	215.0		4365	-7.9	0.0	1	dbSNP_134	215	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		1455/4062	152282997	3,13003	2203	4300	6503	150549621	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4365C>T	1.37:g.152282997G>A		Somatic		Capture	Illumina HiSeq	Phase_I	150549621	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
GON4L	54856	hgsc.bcm.edu	37	1	155823441	155823441	+	Missense_Mutation	SNP	G	G	A	rs141714959		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:155823441G>A	ENST00000368331.1	-	2	179	c.131C>T	c.(130-132)tCg>tTg	p.S44L	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.S44L|GON4L_ENST00000271883.5_Missense_Mutation_p.S44L|GON4L_ENST00000361040.5_Missense_Mutation_p.S44L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	44					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)					TAGTGACACCGAACTCAAGTC	0.468																																																	0			1						G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	187.0	164.0	171.0		131,131	4.4	0.0	1	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GON4L	NM_001037533.1,NM_032292.4	145,145	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	44/2241,44/1530	155823441	2,13004	2203	4300	6503	154090065	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.131C>T	1.37:g.155823441G>A	ENSP00000357315:p.Ser44Leu	Somatic		Capture	Illumina HiSeq	Phase_I	154090065	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	13.84	2.358093	0.41801	2.27E-4	1.16E-4	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.18016	2.41;2.41;2.41;2.24	4.38	4.38	0.52667	.	0.221046	0.23340	N	0.049245	T	0.17109	0.0411	L	0.34521	1.04	0.09310	N	1	P;D;D	0.71674	0.938;0.997;0.998	B;D;D	0.75484	0.285;0.968;0.986	T	0.03043	-1.1079	10	0.45353	T	0.12	.	12.3015	0.54876	0.0:0.0:1.0:0.0	.	44;44;44	Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	L	44	ENSP00000396117:S44L;ENSP00000357315:S44L;ENSP00000271883:S44L;ENSP00000354322:S44L	ENSP00000271883:S44L	S	-	2	0	GON4L	154090065	0.057000	0.20700	0.018000	0.16275	0.170000	0.22686	2.751000	0.47508	2.251000	0.74343	0.561000	0.74099	TCG		GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
KIF14	9928	hgsc.bcm.edu	37	1	200522807	200522807	+	Silent	SNP	A	A	G	rs529988099		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:200522807A>G	ENST00000367350.4	-	30	5094	c.4656T>C	c.(4654-4656)ccT>ccC	p.P1552P		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1552	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CAGAAGTAGAAGGCACACTGA	0.403													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20000	0.0		0.0	False		,,,				2504	0.0																0			1											99.0	95.0	96.0					1																	200522807		2203	4300	6503	198789430	SO:0001819	synonymous_variant	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4656T>C	1.37:g.200522807A>G		Somatic		Capture	Illumina HiSeq	Phase_I	198789430	Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	CCDS30963.1																																																																																				KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
ADSS	159	hgsc.bcm.edu	37	1	244582174	244582174	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:244582174C>T	ENST00000366535.3	-	9	1149	c.833G>A	c.(832-834)gGt>gAt	p.G278D	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			AGTACAAACACCTCCAACAGT	0.363																																																	0			1											81.0	75.0	77.0					1																	244582174		2203	4300	6503	242648797	SO:0001583	missense	159			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.833G>A	1.37:g.244582174C>T	ENSP00000355493:p.Gly278Asp	Somatic		Capture	Illumina HiSeq	Phase_I	242648797		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046908	0.93740	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.49432	0.78	5.98	5.07	0.68467	.	0.044145	0.85682	D	0.000000	T	0.79269	0.4417	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86775	0.1975	10	0.87932	D	0	-13.7219	15.3276	0.74179	0.0:0.933:0.0:0.067	.	278	P30520	PURA2_HUMAN	D	278;257	ENSP00000355493:G278D	ENSP00000355493:G278D	G	-	2	0	ADSS	242648797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	1.541000	0.49316	0.591000	0.81541	GGT		ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126	
OR2B11	127623	hgsc.bcm.edu	37	1	247614573	247614573	+	Nonsense_Mutation	SNP	G	G	A	rs145019591	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:247614573G>A	ENST00000318749.6	-	1	735	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R238*(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCCTTGTGTCGTCCCTTGGAG	0.562																																																	2	Substitution - Nonsense(2)	prostate(1)|endometrium(1)	1						G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	122.0	117.0	119.0		712	3.2	0.0	1	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	OR2B11	NM_001004492.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		238/318	247614573	3,13003	2203	4300	6503	245681196	SO:0001587	stop_gained	127623				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.712C>T	1.37:g.247614573G>A	ENSP00000325682:p.Arg238*	Somatic		Capture	Illumina HiSeq	Phase_I	245681196	B2RP03	Nonsense_Mutation	SNP	ENST00000318749.6	37	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169584	0.78452	4.54E-4	1.16E-4	ENSG00000177535	ENST00000318749	.	.	.	5.09	3.15	0.36227	.	0.514615	0.16116	N	0.228849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2879	0.49232	0.0:0.0:0.4885:0.5115	.	.	.	.	X	238	.	ENSP00000325682:R238X	R	-	1	2	OR2B11	245681196	0.000000	0.05858	0.011000	0.14972	0.763000	0.43281	-0.194000	0.09559	0.783000	0.33636	0.643000	0.83706	CGA		OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	
OR2M4	26245	hgsc.bcm.edu	37	1	248403031	248403031	+	Silent	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:248403031G>A	ENST00000306687.1	+	1	801	c.801G>A	c.(799-801)acG>acA	p.T267T		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					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)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTAAACATACGCCAGACCAGG	0.517																																																	0			1											130.0	111.0	118.0					1																	248403031		2203	4300	6503	246469654	SO:0001819	synonymous_variant	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.801G>A	1.37:g.248403031G>A		Somatic		Capture	Illumina HiSeq	Phase_I	246469654	Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	CCDS31108.1																																																																																				OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
OR2T4	127074	hgsc.bcm.edu	37	1	248525428	248525428	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:248525428C>A	ENST00000366475.1	+	1	546	c.546C>A	c.(544-546)ttC>ttA	p.F182L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	182						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(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGGTTCCTGGGCTCAG	0.547																																																	0			1											262.0	228.0	239.0					1																	248525428		2203	4300	6503	246592051	SO:0001583	missense	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.546C>A	1.37:g.248525428C>A	ENSP00000355431:p.Phe182Leu	Somatic		Capture	Illumina HiSeq	Phase_I	246592051	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	0.659	-0.806383	0.02819	.	.	ENSG00000196944	ENST00000366475	T	0.32023	1.47	3.61	-3.39	0.04868	GPCR, rhodopsin-like superfamily (1);	0.441477	0.19272	N	0.118381	T	0.06462	0.0166	N	0.01289	-0.905	0.09310	N	1	B	0.11235	0.004	B	0.17979	0.02	T	0.30416	-0.9979	10	0.05525	T	0.97	.	4.9023	0.13781	0.0:0.3919:0.2685:0.3395	.	182	Q8NH00	OR2T4_HUMAN	L	182	ENSP00000355431:F182L	ENSP00000355431:F182L	F	+	3	2	OR2T4	246592051	0.000000	0.05858	0.496000	0.27539	0.372000	0.29890	-5.874000	0.00093	-0.783000	0.04534	-0.234000	0.12200	TTC		OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
OR10A4	283297	hgsc.bcm.edu	37	11	6898122	6898122	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:6898122A>G	ENST00000379829.2	+	1	267	c.244A>G	c.(244-246)Atg>Gtg	p.M82V		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	82					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M82L(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTGCCCAAGATGCTGGGGAC	0.468																																																	1	Substitution - Missense(1)	ovary(1)	11											149.0	135.0	140.0					11																	6898122		2201	4296	6497	6854698	SO:0001583	missense	283297			AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.244A>G	11.37:g.6898122A>G	ENSP00000369157:p.Met82Val	Somatic		Capture	Illumina HiSeq	Phase_I	6854698	B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	a	10.71	1.426793	0.25726	.	.	ENSG00000170782	ENST00000379829	T	0.05580	3.42	4.91	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.09774	0.0240	M	0.72479	2.2	0.26251	N	0.978723	B	0.10296	0.003	B	0.12837	0.008	T	0.12268	-1.0554	10	0.59425	D	0.04	.	10.3455	0.43903	0.8349:0.1651:0.0:0.0	.	82	Q9H209	O10A4_HUMAN	V	82	ENSP00000369157:M82V	ENSP00000369157:M82V	M	+	1	0	OR10A4	6854698	0.005000	0.15991	1.000000	0.80357	0.943000	0.58893	0.216000	0.17585	0.989000	0.38761	0.533000	0.62120	ATG		OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186	
STK33	65975	hgsc.bcm.edu	37	11	8486291	8486291	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:8486291T>C	ENST00000447869.1	-	3	1336	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	STK33_ENST00000396672.1_Missense_Mutation_p.T140A|STK33_ENST00000534493.1_Missense_Mutation_p.T99A|STK33_ENST00000315204.1_Missense_Mutation_p.T140A|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000396673.1_Missense_Mutation_p.T140A			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GCCCACTTCGTTTCTGTTTCC	0.413																																																	0			11											344.0	280.0	302.0					11																	8486291		2201	4295	6496	8442867	SO:0001583	missense	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.418A>G	11.37:g.8486291T>C	ENSP00000416750:p.Thr140Ala	Somatic		Capture	Illumina HiSeq	Phase_I	8442867	Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427937	0.25726	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	6.02	2.19	0.27852	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.264388	0.41823	N	0.000810	T	0.37598	0.1009	N	0.11789	0.175	0.09310	N	0.999992	B	0.12013	0.005	B	0.19666	0.026	T	0.16247	-1.0409	10	0.17832	T	0.49	.	7.937	0.29935	0.0:0.0708:0.2301:0.6991	.	140	Q9BYT3	STK33_HUMAN	A	140;140;140;140;99;99;99;140	ENSP00000416750:T140A;ENSP00000320754:T140A;ENSP00000379905:T140A;ENSP00000379906:T140A;ENSP00000436418:T99A;ENSP00000391362:T99A;ENSP00000411510:T99A;ENSP00000403599:T140A	ENSP00000320754:T140A	T	-	1	0	STK33	8442867	0.620000	0.27068	0.988000	0.46212	0.621000	0.37620	2.457000	0.45005	1.112000	0.41740	0.528000	0.53228	ACG		STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906	
USP47	55031	hgsc.bcm.edu	37	11	11941795	11941795	+	Silent	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:11941795G>A	ENST00000399455.2	+	10	1242	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.R354R|USP47_ENST00000339865.5_Silent_p.R286R	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	374	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GTGATGCACGGAAGGTAAATG	0.378																																																	0			11											117.0	108.0	111.0					11																	11941795		1840	4074	5914	11898371	SO:0001819	synonymous_variant	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.1122G>A	11.37:g.11941795G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11898371	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37																																																																																					USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
HIPK3	10114	hgsc.bcm.edu	37	11	33374957	33374957	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:33374957T>C	ENST00000303296.4	+	17	3796	c.3491T>C	c.(3490-3492)gTc>gCc	p.V1164A	HIPK3_ENST00000456517.1_Missense_Mutation_p.V1143A|HIPK3_ENST00000525975.1_Missense_Mutation_p.V1143A|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Missense_Mutation_p.V1143A	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1164					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GTTCACCAAGTCCCAGTGGGC	0.488																																																	0			11											174.0	148.0	157.0					11																	33374957		2202	4298	6500	33331533	SO:0001583	missense	10114			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3491T>C	11.37:g.33374957T>C	ENSP00000304226:p.Val1164Ala	Somatic		Capture	Illumina HiSeq	Phase_I	33331533	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663408	0.88251	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	6.16	6.16	0.99307	.	0.000000	0.53938	D	0.000052	T	0.77130	0.4085	L	0.55481	1.735	0.80722	D	1	D;D	0.58268	0.982;0.969	P;P	0.60886	0.88;0.763	T	0.78445	-0.2201	10	0.66056	D	0.02	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1143;1164	Q9H422-2;Q9H422	.;HIPK3_HUMAN	A	1143;1164;1143;1143	ENSP00000431710:V1143A;ENSP00000304226:V1164A;ENSP00000368301:V1143A;ENSP00000398241:V1143A	ENSP00000304226:V1164A	V	+	2	0	HIPK3	33331533	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.499000	0.81566	2.367000	0.80283	0.528000	0.53228	GTC		HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
OR8H3	390152	hgsc.bcm.edu	37	11	55890364	55890364	+	Silent	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:55890364C>T	ENST00000313472.3	+	1	516	c.516C>T	c.(514-516)aaC>aaT	p.N172N		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GTGACTCAAACATAATTCATC	0.438																																																	0			11											254.0	227.0	236.0					11																	55890364		2201	4296	6497	55646940	SO:0001819	synonymous_variant	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.516C>T	11.37:g.55890364C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55646940	Q6IFB7	Silent	SNP	ENST00000313472.3	37	CCDS31519.1																																																																																				OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201	
PGA5	5222	hgsc.bcm.edu	37	11	61017285	61017285	+	Splice_Site	SNP	C	C	T	rs202236720		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:61017285C>T	ENST00000312403.5	+	7	1103	c.918C>T	c.(916-918)gaC>gaT	p.D306D	PGA5_ENST00000451616.2_Splice_Site_p.D152D|PGA5_ENST00000541528.1_Splice_Site_p.D46D|PGA4_ENST00000422676.2_Splice_Site_p.D306D|CTD-2331C18.5_ENST00000537594.1_RNA	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	306					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						CAGATGGCGACGTGAGTCCAG	0.577																																																	0			11						C		0,4404		0,0,2202	166.0	168.0	167.0		918	-0.4	0.0	11		167	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous-near-splice	PGA5	NM_014224.2		0,2,6499	TT,TC,CC		0.0233,0.0,0.0154		306/389	61017285	2,13000	2202	4299	6501	60773861	SO:0001630	splice_region_variant	5222			BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.918+1C>T	11.37:g.61017285C>T		Somatic		Capture	Illumina HiSeq	Phase_I	60773861	A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Silent	SNP	ENST00000312403.5	37	CCDS8001.1																																																																																				PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397972.1	NM_014224	Silent
EHD1	10938	hgsc.bcm.edu	37	11	64622144	64622144	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:64622144G>T	ENST00000320631.3	-	5	1520	c.1266C>A	c.(1264-1266)ttC>ttA	p.F422L	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.F422L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	422					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGCCGTGCCCGAACGGCCCGT	0.662																																																	0			11											115.0	104.0	108.0					11																	64622144		2201	4296	6497	64378720	SO:0001583	missense	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1266C>A	11.37:g.64622144G>T	ENSP00000320516:p.Phe422Leu	Somatic		Capture	Illumina HiSeq	Phase_I	64378720	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198652	0.38806	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421510	T;T;T	0.57436	2.18;2.18;0.4	4.38	-8.75	0.00834	EF-hand-like domain (1);	0.048927	0.85682	D	0.000000	T	0.68421	0.2999	M	0.89534	3.04	0.49798	D	0.999827	D;D	0.76494	0.999;0.999	D;D	0.65773	0.938;0.938	T	0.82468	-0.0442	10	0.34782	T	0.22	.	15.8734	0.79141	0.4383:0.0:0.5617:0.0	.	422;422	B2R5U3;Q9H4M9	.;EHD1_HUMAN	L	422;422;398;286	ENSP00000320516:F422L;ENSP00000352354:F422L;ENSP00000391429:F286L	ENSP00000320516:F422L	F	-	3	2	EHD1	64378720	0.000000	0.05858	0.628000	0.29241	0.283000	0.27025	-1.936000	0.01549	-2.334000	0.00630	-2.434000	0.00213	TTC		EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795	
MYO7A	4647	hgsc.bcm.edu	37	11	76924066	76924066	+	Missense_Mutation	SNP	G	G	A	rs1132036	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:76924066G>A	ENST00000409709.3	+	47	6696	c.6424G>A	c.(6424-6426)Gat>Aat	p.D2142N	MYO7A_ENST00000458637.2_Missense_Mutation_p.D2102N|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.D2093N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2142	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.		D -> N (in dbSNP:rs1132036).		actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGCCTCATCGATCCCAAAAC	0.532													G|||	151	0.0301518	0.1089	0.0086	5008	,	,		20348	0.0		0.001	False		,,,				2504	0.0																0			11						G	ASN/ASP,ASN/ASP	312,3634		18,276,1679	61.0	55.0	57.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	6424,6304	3.8	0.9	11	dbSNP_86	57	2,8300		0,2,4149	yes	missense,missense	MYO7A	NM_000260.3,NM_001127180.1	23,23	18,278,5828	AA,AG,GG		0.0241,7.9067,2.5637	benign,benign	2142/2216,2102/2176	76924066	314,11934	1973	4151	6124	76601714	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6424G>A	11.37:g.76924066G>A	ENSP00000386331:p.Asp2142Asn	Somatic		Capture	Illumina HiSeq	Phase_I	76601714	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	57	0.0260989010989011	52	0.10569105691056911	4	0.011049723756906077	0	0.0	1	0.0013192612137203166	G	13.65	2.300715	0.40694	0.079067	2.41E-4	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	4.74	3.83	0.44106	FERM domain (1);Pleckstrin homology-type (1);	0.201491	0.49916	D	0.000122	T	0.02649	0.0080	N	0.20328	0.56	0.58432	D	0.999998	B;B	0.31485	0.068;0.325	B;B	0.20384	0.014;0.029	T	0.05146	-1.0903	10	0.24483	T	0.36	.	13.242	0.60002	0.0776:0.0:0.9224:0.0	rs1132036;rs3192425;rs7117511;rs11546951;rs17417614;rs52822228;rs1132036	2102;2142	F8VUN5;Q13402	.;MYO7A_HUMAN	N	2142;2102;2093;1315;2141;2111;2018;1284	ENSP00000386331:D2142N;ENSP00000392185:D2102N;ENSP00000386635:D2093N;ENSP00000417017:D1284N	ENSP00000345075:D2018N	D	+	1	0	MYO7A	76601714	1.000000	0.71417	0.932000	0.37286	0.858000	0.48976	5.057000	0.64294	1.117000	0.41842	0.585000	0.79938	GAT		MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
CDKAL1	54901	hgsc.bcm.edu	37	6	21065366	21065366	+	Silent	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:21065366T>C	ENST00000378610.1	+	10	1153	c.1143T>C	c.(1141-1143)gtT>gtC	p.V381V	CDKAL1_ENST00000274695.4_Silent_p.V381V|CDKAL1_ENST00000378624.4_Silent_p.V311V			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	381					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGAAACTTGTTGAAGAGTACA	0.373																																																	0			6											103.0	102.0	102.0					6																	21065366		2203	4300	6503	21173345	SO:0001819	synonymous_variant	54901			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1143T>C	6.37:g.21065366T>C		Somatic		Capture	Illumina HiSeq	Phase_I	21173345	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	CCDS4546.1																																																																																				CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774	
TDP2	51567	hgsc.bcm.edu	37	6	24667006	24667006	+	Missense_Mutation	SNP	A	A	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:24667006A>T	ENST00000378198.4	-	1	255	c.85T>A	c.(85-87)Tgt>Agt	p.C29S	TDP2_ENST00000341060.3_5'Flank|ACOT13_ENST00000537591.1_5'Flank|ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000545995.1_Missense_Mutation_p.C59S			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	29					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						AACTCCACACACAGAAGTCGC	0.632								Direct reversal of damage																																									0			6											182.0	199.0	193.0					6																	24667006		2203	4300	6503	24774985	SO:0001583	missense	0			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.85T>A	6.37:g.24667006A>T	ENSP00000367440:p.Cys29Ser	Somatic		Capture	Illumina HiSeq	Phase_I	24774985	B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.235767	0.58886	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780	T;T	0.26518	1.79;1.73	5.09	5.09	0.68999	UBA-like (1);	0.045010	0.85682	N	0.000000	T	0.16811	0.0404	L	0.58810	1.83	0.47862	D	0.99953	P;P	0.46512	0.879;0.59	B;B	0.41571	0.36;0.197	T	0.02144	-1.1206	10	0.46703	T	0.11	-16.5107	12.8785	0.58003	1.0:0.0:0.0:0.0	.	59;29	O95551-2;O95551	.;TYDP2_HUMAN	S	29;59;29	ENSP00000367440:C29S;ENSP00000437637:C59S	ENSP00000367440:C29S	C	-	1	0	TDP2	24774985	0.998000	0.40836	0.089000	0.20774	0.653000	0.38743	5.821000	0.69257	2.129000	0.65627	0.533000	0.62120	TGT		TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1		
MRPS18B	28973	hgsc.bcm.edu	37	6	30585650	30585650	+	Missense_Mutation	SNP	C	C	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:30585650C>G	ENST00000259873.4	+	1	165	c.8C>G	c.(7-9)gCg>gGg	p.A3G	AL662800.1_ENST00000410962.1_RNA|MRPS18B_ENST00000472229.1_3'UTR|PPP1R10_ENST00000376511.2_5'Flank|MRPS18B_ENST00000506373.2_Missense_Mutation_p.A3G|PPP1R10_ENST00000484449.1_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	3					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						AAGATGGCGGCGTCTGTATTA	0.532																																																	0			6											180.0	154.0	163.0					6																	30585650		2203	4300	6503	30693629	SO:0001583	missense	28973			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.8C>G	6.37:g.30585650C>G	ENSP00000259873:p.Ala3Gly	Somatic		Capture	Illumina HiSeq	Phase_I	30693629	A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769223	0.69992	.	.	ENSG00000204568	ENST00000259873;ENST00000506373;ENST00000376508	T	0.52057	0.68	5.35	5.35	0.76521	.	0.060205	0.64402	D	0.000004	T	0.33962	0.0881	M	0.63843	1.955	0.28840	N	0.896656	P;P;P	0.42620	0.647;0.785;0.732	B;B;B	0.39465	0.3;0.3;0.217	T	0.39482	-0.9612	10	0.87932	D	0	.	14.4323	0.67259	0.0:1.0:0.0:0.0	.	3;3;3	B4DFG6;Q5STN0;Q9Y676	.;.;RT18B_HUMAN	G	3	ENSP00000259873:A3G	ENSP00000259873:A3G	A	+	2	0	MRPS18B	30693629	0.908000	0.30866	0.922000	0.36590	0.198000	0.23893	3.347000	0.52200	2.780000	0.95670	0.655000	0.94253	GCG		MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2		
SLC26A8	116369	hgsc.bcm.edu	37	6	35987297	35987297	+	Splice_Site	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:35987297C>T	ENST00000490799.1	-	2	541	c.188G>A	c.(187-189)cGc>cAc	p.R63H	SLC26A8_ENST00000355574.2_Splice_Site_p.R63H|SLC26A8_ENST00000394602.2_Splice_Site_p.R63H	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.R63P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACACACGCACCGGCACTGGAC	0.517																																																	1	Substitution - Missense(1)	ovary(1)	6											201.0	151.0	168.0					6																	35987297		2203	4300	6503	36095275	SO:0001630	splice_region_variant	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.188+1G>A	6.37:g.35987297C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36095275		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759331	0.69763	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.79	3.0	0.34707	.	0.596683	0.14408	N	0.321455	T	0.15696	0.0378	L	0.32530	0.975	0.31928	N	0.612576	D;B	0.71674	0.998;0.251	P;B	0.57324	0.818;0.047	T	0.04635	-1.0937	9	.	.	.	.	7.2081	0.25919	0.0:0.7988:0.0:0.2012	.	63;63	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	H	63;63;63;149	ENSP00000417638:R63H;ENSP00000378100:R63H;ENSP00000347778:R63H;ENSP00000420488:R149H	.	R	-	2	0	SLC26A8	36095275	0.986000	0.35501	0.975000	0.42487	0.752000	0.42762	0.717000	0.25851	0.736000	0.32559	0.650000	0.86243	CGC		SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		Missense_Mutation
PRIM2	5558	hgsc.bcm.edu	37	6	57472371	57472371	+	3'UTR	SNP	G	G	A	rs112546318	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:57472371G>A	ENST00000389488.2	+	0	1247				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TGCCCATTCCGTCACAGTGAT	0.453													G|||	3	0.000599042	0.0023	0.0	5008	,	,		33942	0.0		0.0	False		,,,				2504	0.0																0			6						G	HIS/ARG	8,4040		0,8,2016	191.0	175.0	180.0		1160	3.0	1.0	6	dbSNP_132	180	1,8385		0,1,4192	no	missense	PRIM2	XM_003403439.1	29	0,9,6208	AA,AG,GG		0.0119,0.1976,0.0724	probably-damaging	387/510	57472371	9,12425	2024	4193	6217	57580330	SO:0001624	3_prime_UTR_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1244G>A	6.37:g.57472371G>A		Somatic		Capture	Illumina HiSeq	Phase_I	57580330	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37																																																																																					PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947	
IMPG1	3617	hgsc.bcm.edu	37	6	76731907	76731907	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:76731907G>A	ENST00000369950.3	-	6	781	c.592C>T	c.(592-594)Cct>Tct	p.P198S	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGAGTGAGAGGGAAAGGCCCA	0.388																																					Pancreas(37;839 1141 2599 26037)												0			6											160.0	142.0	148.0					6																	76731907		2203	4300	6503	76788627	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.592C>T	6.37:g.76731907G>A	ENSP00000358966:p.Pro198Ser	Somatic		Capture	Illumina HiSeq	Phase_I	76788627		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	0.189	-1.054949	0.01965	.	.	ENSG00000112706	ENST00000369950	T	0.20332	2.08	4.96	2.91	0.33838	.	0.822085	0.10672	N	0.647433	T	0.03608	0.0103	N	0.21583	0.68	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.40001	-0.9586	10	0.06625	T	0.88	.	10.1634	0.42866	0.0:0.2172:0.6029:0.1799	.	198	Q17R60	IMPG1_HUMAN	S	198	ENSP00000358966:P198S	ENSP00000358966:P198S	P	-	1	0	IMPG1	76788627	0.126000	0.22350	0.014000	0.15608	0.026000	0.11368	1.741000	0.38238	1.052000	0.40392	0.650000	0.86243	CCT		IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
AHI1	54806	hgsc.bcm.edu	37	6	135787317	135787317	+	Silent	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:135787317C>T	ENST00000367800.4	-	5	600	c.384G>A	c.(382-384)aaG>aaA	p.K128K	AHI1_ENST00000327035.6_Silent_p.K128K|AHI1_ENST00000457866.2_Silent_p.K128K	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	128					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)		TCTTTATCACCTTTTTATTTG	0.408																																																	0			6											220.0	201.0	207.0					6																	135787317		1934	4127	6061	135829010	SO:0001819	synonymous_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.384G>A	6.37:g.135787317C>T		Somatic		Capture	Illumina HiSeq	Phase_I	135829010	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	CCDS47483.1																																																																																				AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
BCLAF1	9774	hgsc.bcm.edu	37	6	136597485	136597485	+	Missense_Mutation	SNP	T	T	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:136597485T>A	ENST00000531224.1	-	5	1430	c.1178A>T	c.(1177-1179)aAg>aTg	p.K393M	BCLAF1_ENST00000353331.4_Missense_Mutation_p.K391M|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K391M|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K393M|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K391M	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	393					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCATTAAACTTTTGTTTTCC	0.433																																					Colon(142;1534 1789 5427 7063 28491)												0			6											306.0	321.0	316.0					6																	136597485		2203	4300	6503	136639178	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1178A>T	6.37:g.136597485T>A	ENSP00000435210:p.Lys393Met	Somatic		Capture	Illumina HiSeq	Phase_I	136639178	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124616	0.56613	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000002	T	0.11665	0.0284	N	0.08118	0	0.80722	D	1	D;D;D	0.64830	0.987;0.994;0.987	P;P;P	0.59012	0.753;0.85;0.753	T	0.28427	-1.0044	10	0.44086	T	0.13	-8.8214	15.9539	0.79865	0.0:0.0:0.0:1.0	.	391;391;393	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	M	393;391;393;391;391;393	ENSP00000435210:K393M;ENSP00000229446:K391M;ENSP00000435441:K393M;ENSP00000434826:K391M;ENSP00000376159:K391M;ENSP00000431734:K393M	ENSP00000229446:K391M	K	-	2	0	BCLAF1	136639178	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.700000	0.61803	2.240000	0.73641	0.528000	0.53228	AAG		BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
TNFAIP3	7128	hgsc.bcm.edu	37	6	138200292	138200292	+	Silent	SNP	C	C	T	rs542739083		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:138200292C>T	ENST00000237289.4	+	7	1776	c.1710C>T	c.(1708-1710)ctC>ctT	p.L570L		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	570	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCTCGCGGCTCGTCCGGAGCC	0.632			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		15802	0.0		0.0	False		,,,				2504	0.001				GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)	6											57.0	63.0	61.0					6																	138200292		2203	4300	6503	138241985	SO:0001819	synonymous_variant	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1710C>T	6.37:g.138200292C>T		Somatic		Capture	Illumina HiSeq	Phase_I	138241985	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	CCDS5187.1																																																																																				TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1		
TNFAIP3	7128	hgsc.bcm.edu	37	6	138200296	138200296	+	Silent	SNP	C	C	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:138200296C>A	ENST00000237289.4	+	7	1780	c.1714C>A	c.(1714-1716)Cgg>Agg	p.R572R		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	572	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCGGCTCGTCCGGAGCCCCTC	0.637			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)	6											54.0	60.0	58.0					6																	138200296		2203	4300	6503	138241989	SO:0001819	synonymous_variant	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1714C>A	6.37:g.138200296C>A		Somatic		Capture	Illumina HiSeq	Phase_I	138241989	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	CCDS5187.1																																																																																				TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1		
MYCT1	80177	hgsc.bcm.edu	37	6	153042915	153042915	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr6:153042915G>A	ENST00000367245.5	+	2	243	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	79						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CATGGCAATCGGGCTGGTACT	0.408																																																	0			6											156.0	140.0	145.0					6																	153042915		2203	4300	6503	153084608	SO:0001583	missense	80177			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.235G>A	6.37:g.153042915G>A	ENSP00000356214:p.Gly79Arg	Somatic		Capture	Illumina HiSeq	Phase_I	153084608	Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898475	0.91962	.	.	ENSG00000120279	ENST00000367245	T	0.63913	-0.07	5.77	5.77	0.91146	.	0.100261	0.64402	D	0.000002	T	0.74574	0.3734	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.67725	0.953;0.923	T	0.75777	-0.3198	10	0.72032	D	0.01	-5.4393	19.99	0.97362	0.0:0.0:1.0:0.0	.	31;79	D6Q1S4;Q8N699	.;MYCT1_HUMAN	R	79	ENSP00000356214:G79R	ENSP00000356214:G79R	G	+	1	0	MYCT1	153084608	1.000000	0.71417	0.060000	0.19600	0.943000	0.58893	8.091000	0.89528	2.723000	0.93209	0.573000	0.79308	GGG		MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107	
KPNA2	3838	hgsc.bcm.edu	37	17	66033285	66033285	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr17:66033285C>A	ENST00000537025.2	+	2	657	c.37C>A	c.(37-39)Cgt>Agt	p.R13S	KPNA2_ENST00000330459.3_Missense_Mutation_p.R13S			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	13	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCAGCTGCCCGTCTTCACAG	0.413																																																	0			17											157.0	162.0	160.0					17																	66033285		2203	4296	6499	63463747	SO:0001583	missense	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.37C>A	17.37:g.66033285C>A	ENSP00000438483:p.Arg13Ser	Somatic		Capture	Illumina HiSeq	Phase_I	63463747	B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184771	0.38609	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.76316	-1.01;-1.01	4.5	4.5	0.54988	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	D	0.89026	0.6598	M	0.89478	3.035	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.91732	0.5397	10	0.87932	D	0	.	17.1906	0.86878	0.0:1.0:0.0:0.0	.	13	P52292	IMA2_HUMAN	S	13	ENSP00000332455:R13S;ENSP00000438483:R13S	ENSP00000332455:R13S	R	+	1	0	KPNA2	63463747	1.000000	0.71417	0.998000	0.56505	0.515000	0.34225	5.363000	0.66104	2.053000	0.61076	0.305000	0.20034	CGT		KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266	
RNF213	57674	hgsc.bcm.edu	37	17	78317684	78317684	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr17:78317684T>C	ENST00000582970.1	+	28	6354	c.6211T>C	c.(6211-6213)Ttc>Ctc	p.F2071L	RNF213_ENST00000336301.6_Missense_Mutation_p.F144L|RNF213_ENST00000508628.2_Missense_Mutation_p.F2120L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2071					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)			GGTGTTTCTTTTCAAGCTCCT	0.443																																																	0			17											178.0	160.0	166.0					17																	78317684		2203	4300	6503	75932279	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.6211T>C	17.37:g.78317684T>C	ENSP00000464087:p.Phe2071Leu	Somatic		Capture	Illumina HiSeq	Phase_I	75932279	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	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424080	0.62733	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.59906	0.23	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.68824	0.3043	L	0.36672	1.1	0.41316	D	0.987141	D	0.89917	1.0	D	0.91635	0.999	T	0.72187	-0.4366	10	0.87932	D	0	.	16.3544	0.83230	0.0:0.0:0.0:1.0	.	144	Q63HN8	RN213_HUMAN	L	2071;2120;144	ENSP00000338218:F144L	ENSP00000338218:F144L	F	+	1	0	RNF213	75932279	1.000000	0.71417	0.985000	0.45067	0.952000	0.60782	7.232000	0.78116	2.265000	0.75225	0.459000	0.35465	TTC		RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
SIK1	150094	hgsc.bcm.edu	37	21	44841904	44841904	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr21:44841904T>C	ENST00000270162.6	-	4	419	c.287A>G	c.(286-288)aAg>aGg	p.K96R		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	96	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	AAGCATGTCCTTTGTTTCCAT	0.418																																																	0			21											110.0	100.0	103.0					21																	44841904		2203	4300	6503	43666332	SO:0001583	missense	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.287A>G	21.37:g.44841904T>C	ENSP00000270162:p.Lys96Arg	Somatic		Capture	Illumina HiSeq	Phase_I	43666332	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170280	0.78452	.	.	ENSG00000142178	ENST00000270162	T	0.25085	1.82	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055010	0.64402	D	0.000001	T	0.29256	0.0728	N	0.20807	0.61	0.53688	D	0.999973	P	0.42649	0.786	P	0.52031	0.688	T	0.12578	-1.0542	10	0.87932	D	0	.	14.3245	0.66509	0.0:0.0:0.0:1.0	.	96	P57059	SIK1_HUMAN	R	96	ENSP00000270162:K96R	ENSP00000270162:K96R	K	-	2	0	SIK1	43666332	1.000000	0.71417	0.984000	0.44739	0.942000	0.58702	5.516000	0.67055	1.789000	0.52484	0.533000	0.62120	AAG		SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354	
TNP2	7142	hgsc.bcm.edu	37	16	11362995	11362995	+	Missense_Mutation	SNP	C	C	T	rs200495915	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr16:11362995C>T	ENST00000312693.3	-	1	194	c.125G>A	c.(124-126)cGt>cAt	p.R42H	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	42					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CCGGCTGCCACGATGGCTCTG	0.632													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15900	0.0		0.0	False		,,,				2504	0.0																1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	16						C	HIS/ARG	10,4128		0,10,2059	129.0	147.0	141.0		125	-0.9	0.0	16		141	0,8418		0,0,4209	yes	missense	TNP2	NM_005425.4	29	0,10,6268	TT,TC,CC		0.0,0.2417,0.0796	benign	42/139	11362995	10,12546	2069	4209	6278	11270496	SO:0001583	missense	7142				CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.125G>A	16.37:g.11362995C>T	ENSP00000325738:p.Arg42His	Somatic		Capture	Illumina HiSeq	Phase_I	11270496	Q9NZB0	Missense_Mutation	SNP	ENST00000312693.3	37	CCDS45410.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.355	0.623570	0.14193	0.002417	0.0	ENSG00000178279	ENST00000312693	T	0.50548	0.74	2.37	-0.951	0.10369	.	.	.	.	.	T	0.27454	0.0674	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.17440	-1.0369	9	0.27082	T	0.32	.	5.1818	0.15163	0.0:0.4552:0.0:0.5448	.	42	Q05952	STP2_HUMAN	H	42	ENSP00000325738:R42H	ENSP00000325738:R42H	R	-	2	0	TNP2	11270496	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.240000	0.18042	-0.213000	0.10094	-0.254000	0.11334	CGT		TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425	
ADAMTS18	170692	hgsc.bcm.edu	37	16	77353780	77353780	+	Missense_Mutation	SNP	G	G	A	rs147816593		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr16:77353780G>A	ENST00000282849.5	-	16	2916	c.2498C>T	c.(2497-2499)gCg>gTg	p.A833V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	833	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGCCCTGGCGCGTACAGACG	0.542																																																	0			16						G	VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	61.0	60.0	60.0		2498	5.5	0.2	16	dbSNP_134	60	0,8600		0,0,4300	no	missense	ADAMTS18	NM_199355.2	64	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	833/1222	77353780	1,12995	2198	4300	6498	75911281	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2498C>T	16.37:g.77353780G>A	ENSP00000282849:p.Ala833Val	Somatic		Capture	Illumina HiSeq	Phase_I	75911281	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141924	0.77775	2.27E-4	0.0	ENSG00000140873	ENST00000282849	T	0.56941	0.43	5.54	5.54	0.83059	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.81914	0.897;0.995	T	0.81191	-0.1045	10	0.87932	D	0	.	18.4764	0.90793	0.0:0.0:1.0:0.0	.	833;833	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	V	833	ENSP00000282849:A833V	ENSP00000282849:A833V	A	-	2	0	ADAMTS18	75911281	1.000000	0.71417	0.242000	0.24170	0.254000	0.26022	9.378000	0.97191	2.618000	0.88619	0.563000	0.77884	GCG		ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
DLGAP1	9229	hgsc.bcm.edu	37	18	3582068	3582068	+	Silent	SNP	G	G	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr18:3582068G>T	ENST00000315677.3	-	8	2365	c.1770C>A	c.(1768-1770)acC>acA	p.T590T	DLGAP1_ENST00000400149.3_Silent_p.T280T|DLGAP1_ENST00000400150.3_Silent_p.T306T|DLGAP1_ENST00000584874.1_Silent_p.T590T|DLGAP1_ENST00000400155.1_Silent_p.T296T|DLGAP1_ENST00000534970.1_Silent_p.T274T|DLGAP1_ENST00000400145.2_Silent_p.T288T|DLGAP1_ENST00000581699.1_Silent_p.T296T|DLGAP1_ENST00000515196.2_Silent_p.T590T|DLGAP1_ENST00000581527.1_Silent_p.T590T|DLGAP1_ENST00000400147.2_Silent_p.T288T|DLGAP1_ENST00000539435.1_Silent_p.T298T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	590					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCAGGCTCTCGGTGGAGTTGC	0.572																																																	0			18											123.0	107.0	112.0					18																	3582068		2203	4300	6503	3572068	SO:0001819	synonymous_variant	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1770C>A	18.37:g.3582068G>T		Somatic		Capture	Illumina HiSeq	Phase_I	3572068	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	CCDS11836.1																																																																																				DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
PTPRM	5797	hgsc.bcm.edu	37	18	8384563	8384563	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr18:8384563G>T	ENST00000332175.8	+	28	4921	c.3884G>T	c.(3883-3885)tGt>tTt	p.C1295F	PTPRM_ENST00000444013.1_Missense_Mutation_p.C1082F|PTPRM_ENST00000580170.1_Missense_Mutation_p.C1308F|PTPRM_ENST00000400060.4_Missense_Mutation_p.C1309F|PTPRM_ENST00000400053.4_Missense_Mutation_p.C1233F	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1295	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATTCAGTTGTGTCCACAGTAC	0.413																																																	0			18											117.0	104.0	109.0					18																	8384563		2203	4300	6503	8374563	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3884G>T	18.37:g.8384563G>T	ENSP00000331418:p.Cys1295Phe	Somatic		Capture	Illumina HiSeq	Phase_I	8374563	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149452	0.78001	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.33	4.45	0.53987	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	M	0.92604	3.325	0.80722	D	1	D;P;D	0.76494	0.999;0.64;0.996	D;B;D	0.83275	0.996;0.348;0.996	T	0.69694	-0.5076	10	0.87932	D	0	.	15.4794	0.75514	0.0:0.0:0.8604:0.1396	.	1082;1308;1295	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	F	1295;1309;1233;1082	ENSP00000331418:C1295F;ENSP00000382933:C1309F;ENSP00000382927:C1233F;ENSP00000387608:C1082F	ENSP00000331418:C1295F	C	+	2	0	PTPRM	8374563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.734000	0.98822	1.242000	0.43836	0.579000	0.79373	TGT		PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
RAD18	56852	hgsc.bcm.edu	37	3	8923064	8923064	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:8923064T>C	ENST00000264926.2	-	13	1581	c.1465A>G	c.(1465-1467)Aga>Gga	p.R489G		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	489					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CGCTTGTTTCTTGGTTCAATC	0.383								Rad6 pathway																																									0			3											176.0	167.0	170.0					3																	8923064		2203	4300	6503	8898064	SO:0001583	missense	56852				CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1465A>G	3.37:g.8923064T>C	ENSP00000264926:p.Arg489Gly	Somatic		Capture	Illumina HiSeq	Phase_I	8898064	Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557167	0.45590	.	.	ENSG00000070950	ENST00000264926	T	0.38560	1.13	4.54	3.39	0.38822	.	0.098347	0.44097	D	0.000486	T	0.26919	0.0659	L	0.27053	0.805	0.36553	D	0.871951	B	0.32573	0.376	B	0.30401	0.115	T	0.27571	-1.0070	10	0.87932	D	0	-17.4904	6.8781	0.24158	0.0:0.1039:0.0:0.8961	.	489	Q9NS91	RAD18_HUMAN	G	489	ENSP00000264926:R489G	ENSP00000264926:R489G	R	-	1	2	RAD18	8898064	0.998000	0.40836	0.986000	0.45419	0.878000	0.50629	3.248000	0.51430	0.890000	0.36211	-0.250000	0.11733	AGA		RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165	
VHL	7428	hgsc.bcm.edu	37	3	10191649	10191649	+	Nonstop_Mutation	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:10191649A>G	ENST00000256474.2	+	3	1482	c.642A>G	c.(640-642)tgA>tgG	p.*214W	VHL_ENST00000345392.2_Nonstop_Mutation_p.*173W|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	0					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.*214CRFLLKLTLFHLSF*(2)|p.D213fs(1)|p.?(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGGGAGATTGAAGATTTCTGT	0.458		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	4	Nonstop extension(2)|Unknown(1)|Complex - frameshift(1)	adrenal_gland(2)|kidney(2)	3											52.0	44.0	47.0					3																	10191649		2203	4300	6503	10166649	SO:0001578	stop_lost	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.642A>G	3.37:g.10191649A>G	ENSP00000256474:p.*214Trpext*14	Somatic		Capture	Illumina HiSeq	Phase_I	10166649	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	8.497	0.863338	0.17250	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.68	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9942	0.19485	0.795:0.0:0.205:0.0	.	.	.	.	W	214;173;132	.	.	X	+	3	0	VHL	10166649	0.181000	0.23161	0.016000	0.15963	0.011000	0.07611	2.874000	0.48483	0.323000	0.23307	0.533000	0.62120	TGA		VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
ANKRD28	23243	hgsc.bcm.edu	37	3	15711978	15711978	+	Silent	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:15711978T>C	ENST00000399451.2	-	28	3328	c.2961A>G	c.(2959-2961)tcA>tcG	p.S987S	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.S1020S	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	987						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GACTACTTGATGAGACAGGCA	0.438																																																	0			3											171.0	167.0	168.0					3																	15711978		1978	4163	6141	15686982	SO:0001819	synonymous_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2961A>G	3.37:g.15711978T>C		Somatic		Capture	Illumina HiSeq	Phase_I	15686982	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	ENST00000399451.2	37	CCDS46769.1																																																																																				ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	
CLASP2	23122	hgsc.bcm.edu	37	3	33725898	33725898	+	Silent	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:33725898T>C	ENST00000468888.2	-	6	643	c.597A>G	c.(595-597)ggA>ggG	p.G199G	CLASP2_ENST00000399362.4_Silent_p.G199G|CLASP2_ENST00000359576.5_Silent_p.G199G|CLASP2_ENST00000307312.7_5'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1252					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCACTTTTTCTCCCACATGTC	0.318																																																	0			3											138.0	139.0	139.0					3																	33725898		1815	4079	5894	33700902	SO:0001819	synonymous_variant	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.597A>G	3.37:g.33725898T>C		Somatic		Capture	Illumina HiSeq	Phase_I	33700902	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37																																																																																					CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	
FLNB	2317	hgsc.bcm.edu	37	3	58094230	58094230	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:58094230A>G	ENST00000295956.4	+	13	2152	c.1987A>G	c.(1987-1989)Aac>Gac	p.N663D	FLNB_ENST00000358537.3_Missense_Mutation_p.N663D|FLNB_ENST00000357272.4_Missense_Mutation_p.N663D|FLNB_ENST00000429972.2_Missense_Mutation_p.N663D|FLNB_ENST00000348383.5_Missense_Mutation_p.N663D|FLNB_ENST00000490882.1_Missense_Mutation_p.N663D|FLNB_ENST00000419752.2_Missense_Mutation_p.N494D|FLNB_ENST00000493452.1_Missense_Mutation_p.N494D	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	663			N -> K (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATGCATTGTCAACAACCTGGC	0.473																																																	0			3											86.0	82.0	83.0					3																	58094230		2203	4300	6503	58069270	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1987A>G	3.37:g.58094230A>G	ENSP00000295956:p.Asn663Asp	Somatic		Capture	Illumina HiSeq	Phase_I	58069270	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.305862	0.23736	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	5.56	5.56	0.83823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.119241	0.85682	D	0.000000	T	0.64305	0.2586	L	0.48260	1.515	0.33560	D	0.597227	B;B;B;B;B;B	0.20052	0.018;0.04;0.041;0.003;0.023;0.023	B;B;B;B;B;B	0.22880	0.024;0.042;0.042;0.02;0.042;0.042	T	0.66280	-0.5963	10	0.15952	T	0.53	.	16.002	0.80301	1.0:0.0:0.0:0.0	.	663;663;494;494;663;663	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	D	663;663;663;663;663;663;494;494	ENSP00000295956:N663D;ENSP00000420213:N663D;ENSP00000351339:N663D;ENSP00000415599:N663D;ENSP00000232447:N663D;ENSP00000349819:N663D;ENSP00000418510:N494D;ENSP00000414532:N494D	ENSP00000295956:N663D	N	+	1	0	FLNB	58069270	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	4.264000	0.58859	2.241000	0.73720	0.533000	0.62120	AAC		FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
TMF1	7110	hgsc.bcm.edu	37	3	69096730	69096730	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:69096730T>C	ENST00000398559.2	-	2	1342	c.1126A>G	c.(1126-1128)Aaa>Gaa	p.K376E	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.K376E|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	376					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCTTCAGATTTTCCTTCAGCA	0.378																																																	0			3											108.0	101.0	103.0					3																	69096730		1860	4093	5953	69179420	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1126A>G	3.37:g.69096730T>C	ENSP00000381567:p.Lys376Glu	Somatic		Capture	Illumina HiSeq	Phase_I	69179420	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.490825	0.26774	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.76060	-0.99;-0.99	5.86	5.86	0.93980	.	0.232088	0.51477	D	0.000084	T	0.64940	0.2644	L	0.34521	1.04	0.40351	D	0.979138	B;B	0.15930	0.015;0.009	B;B	0.17979	0.02;0.009	T	0.60546	-0.7242	10	0.15499	T	0.54	-15.672	16.5602	0.84551	0.0:0.0:0.0:1.0	.	376;376	P82094-2;P82094	.;TMF1_HUMAN	E	376;376;289;376	ENSP00000381567:K376E;ENSP00000438706:K376E	ENSP00000348582:K289E	K	-	1	0	TMF1	69179420	1.000000	0.71417	0.967000	0.41034	0.195000	0.23768	3.633000	0.54295	2.367000	0.80283	0.528000	0.53228	AAA		TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	
ZIC4	84107	hgsc.bcm.edu	37	3	147114001	147114001	+	Missense_Mutation	SNP	G	G	T	rs375753545		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:147114001G>T	ENST00000383075.3	-	3	838	c.326C>A	c.(325-327)gCg>gAg	p.A109E	ZIC4_ENST00000484399.1_Missense_Mutation_p.A109E|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.A109E|ZIC4_ENST00000525172.2_Missense_Mutation_p.A159E|ZIC4_ENST00000425731.3_Missense_Mutation_p.A147E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	109						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ACCGTGGGGCGCAGCGAGGTT	0.706													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14536	0.0		0.0	False		,,,				2504	0.0																0			3						G	GLU/ALA,GLU/ALA,GLU/ALA	1,4383		0,1,2191	25.0	30.0	28.0		476,440,326	4.1	1.0	3		28	0,8590		0,0,4295	no	missense,missense,missense	ZIC4	NM_001168378.1,NM_001168379.1,NM_032153.5	107,107,107	0,1,6486	TT,TG,GG		0.0,0.0228,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	159/385,147/373,109/335	147114001	1,12973	2192	4295	6487	148596691	SO:0001583	missense	84107			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.326C>A	3.37:g.147114001G>T	ENSP00000372553:p.Ala109Glu	Somatic		Capture	Illumina HiSeq	Phase_I	148596691	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510507	0.85389	2.28E-4	0.0	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	4.98	4.1	0.47936	.	0.306081	0.22881	N	0.054502	T	0.51991	0.1707	M	0.65975	2.015	0.80722	D	1	P;P	0.52061	0.95;0.884	P;B	0.46543	0.52;0.406	T	0.56535	-0.7963	10	0.54805	T	0.06	.	13.2973	0.60305	0.077:0.0:0.923:0.0	.	159;109	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	E	109;147;159;109;109;109	ENSP00000372553:A109E;ENSP00000397695:A147E;ENSP00000435509:A159E;ENSP00000417855:A109E;ENSP00000420775:A109E;ENSP00000420627:A109E	ENSP00000372553:A109E	A	-	2	0	ZIC4	148596691	1.000000	0.71417	0.956000	0.39512	0.949000	0.60115	7.644000	0.83416	1.085000	0.41206	0.561000	0.74099	GCG		ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1		
DHX36	170506	hgsc.bcm.edu	37	3	154022661	154022661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:154022661G>A	ENST00000496811.1	-	8	1149	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	DHX36_ENST00000308361.6_Nonsense_Mutation_p.R357*|DHX36_ENST00000544526.1_Nonsense_Mutation_p.R357*|DHX36_ENST00000329463.5_Nonsense_Mutation_p.R357*	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	357	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			AAGTCAGATCGAAAATTGAGA	0.308																																																	0			3											42.0	42.0	42.0					3																	154022661		2203	4298	6501	155505355	SO:0001587	stop_gained	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.1069C>T	3.37:g.154022661G>A	ENSP00000417078:p.Arg357*	Somatic		Capture	Illumina HiSeq	Phase_I	155505355	B2RB00|Q70JU3|Q8IYE5|Q9P240	Nonsense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	40	7.916949	0.98560	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.	.	.	5.9	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3314	0.83015	0.0:0.0:0.8667:0.1333	.	.	.	.	X	357;357;357;357;271	.	ENSP00000309296:R357X	R	-	1	2	DHX36	155505355	1.000000	0.71417	0.838000	0.33150	0.955000	0.61496	7.543000	0.82106	1.474000	0.48178	0.655000	0.94253	CGA		DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
ARL14	80117	hgsc.bcm.edu	37	3	160395155	160395155	+	Silent	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:160395155A>G	ENST00000320767.2	+	1	208	c.21A>G	c.(19-21)aaA>aaG	p.K7K		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	7					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TGGGTTCTAAAAATCCGCAAA	0.383																																																	0			3											45.0	45.0	45.0					3																	160395155		2203	4300	6503	161877849	SO:0001819	synonymous_variant	80117			AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.21A>G	3.37:g.160395155A>G		Somatic		Capture	Illumina HiSeq	Phase_I	161877849	Q9H655	Silent	SNP	ENST00000320767.2	37	CCDS3192.1																																																																																				ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047	
BCHE	590	hgsc.bcm.edu	37	3	165547891	165547891	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:165547891C>T	ENST00000264381.3	-	2	1097	c.931G>A	c.(931-933)Ggg>Agg	p.G311R	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	311					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAAGGAGTCCCATAGGGGACA	0.393																																																	0			3											45.0	49.0	48.0					3																	165547891		2202	4295	6497	167030585	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.931G>A	3.37:g.165547891C>T	ENSP00000264381:p.Gly311Arg	Somatic		Capture	Illumina HiSeq	Phase_I	167030585	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.190568	0.01607	.	.	ENSG00000114200	ENST00000264381	D	0.95238	-3.65	5.42	4.54	0.55810	Carboxylesterase, type B (1);	0.752409	0.13633	N	0.373588	D	0.84710	0.5532	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.73081	-0.4095	10	0.23302	T	0.38	.	7.6275	0.28220	0.2946:0.6292:0.0:0.0762	.	311	P06276	CHLE_HUMAN	R	311	ENSP00000264381:G311R	ENSP00000264381:G311R	G	-	1	0	BCHE	167030585	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.052000	0.11865	1.269000	0.44280	-0.182000	0.12963	GGG		BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
FXR1	8087	hgsc.bcm.edu	37	3	180680830	180680830	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:180680830A>G	ENST00000357559.4	+	13	1534	c.1150A>G	c.(1150-1152)Agc>Ggc	p.S384G	FXR1_ENST00000445140.2_Missense_Mutation_p.S384G|FXR1_ENST00000491062.1_Missense_Mutation_p.S335G|FXR1_ENST00000305586.7_Missense_Mutation_p.S299G|FXR1_ENST00000480918.1_Missense_Mutation_p.S371G|FXR1_ENST00000468861.1_Missense_Mutation_p.S299G	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	384					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAGGTCTTATAGCGGAAGAGG	0.388																																																	0			3											152.0	155.0	154.0					3																	180680830		2203	4300	6503	182163524	SO:0001583	missense	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1150A>G	3.37:g.180680830A>G	ENSP00000350170:p.Ser384Gly	Somatic		Capture	Illumina HiSeq	Phase_I	182163524	A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412543	0.42817	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.22	5.22	0.72569	.	0.041544	0.85682	D	0.000000	T	0.18676	0.0448	N	0.04880	-0.145	0.43846	D	0.996432	B;B;B;B;B;B	0.29909	0.002;0.001;0.002;0.261;0.001;0.126	B;B;B;B;B;B	0.35073	0.005;0.01;0.01;0.195;0.005;0.096	T	0.14337	-1.0476	10	0.18710	T	0.47	-8.6699	15.3902	0.74739	1.0:0.0:0.0:0.0	.	371;335;299;328;384;384	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	G	384;299;335;299;384;371	ENSP00000350170:S384G;ENSP00000307633:S299G;ENSP00000420643:S335G;ENSP00000420515:S299G;ENSP00000388828:S384G;ENSP00000418097:S371G	ENSP00000307633:S299G	S	+	1	0	FXR1	182163524	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.177000	0.65032	2.098000	0.63641	0.383000	0.25322	AGC		FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5		
PRMT8	56341	hgsc.bcm.edu	37	12	3686063	3686063	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr12:3686063A>G	ENST00000382622.3	+	7	1129	c.739A>G	c.(739-741)Atg>Gtg	p.M247V	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.M238V	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	247	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGGCTTTGACATGACCTGCAT	0.557																																																	0			12											284.0	255.0	265.0					12																	3686063		2203	4300	6503	3556324	SO:0001583	missense	56341			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.739A>G	12.37:g.3686063A>G	ENSP00000372067:p.Met247Val	Somatic		Capture	Illumina HiSeq	Phase_I	3556324	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	A	13.82	2.352590	0.41700	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.78707	-1.2;-1.2	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.82226	0.4991	H	0.94542	3.55	0.80722	D	1	B;B	0.33807	0.426;0.087	B;B	0.27262	0.078;0.016	D	0.85180	0.1003	10	0.87932	D	0	.	13.0795	0.59104	1.0:0.0:0.0:0.0	.	238;247	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	V	238;247	ENSP00000414507:M238V;ENSP00000372067:M247V	ENSP00000372067:M247V	M	+	1	0	PRMT8	3556324	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	9.297000	0.96120	1.978000	0.57642	0.533000	0.62120	ATG		PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	
DYRK4	8798	hgsc.bcm.edu	37	12	4705885	4705885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr12:4705885G>T	ENST00000540757.2	+	6	710	c.550G>T	c.(550-552)Gag>Tag	p.E184*	DYRK4_ENST00000010132.5_Nonsense_Mutation_p.E184*|DYRK4_ENST00000543431.1_Nonsense_Mutation_p.E184*	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.E586Q(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CATCACCTTTGAGCTCCTGGG	0.418																																																	2	Substitution - Missense(2)	lung(2)	12											159.0	142.0	148.0					12																	4705885		2203	4300	6503	4576146	SO:0001587	stop_gained	8798			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.550G>T	12.37:g.4705885G>T	ENSP00000441755:p.Glu184*	Somatic		Capture	Illumina HiSeq	Phase_I	4576146	A8K8F7|Q8NEF2|Q92631	Nonsense_Mutation	SNP	ENST00000540757.2	37	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	38	6.642747	0.97730	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1192	0.86697	0.0:0.0:1.0:0.0	.	.	.	.	X	299;184;184;184	.	ENSP00000010132:E184X	E	+	1	0	DYRK4	4576146	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.272000	0.95707	2.570000	0.86706	0.655000	0.94253	GAG		DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		
PRB2	653247	hgsc.bcm.edu	37	12	11546440	11546440	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr12:11546440G>A	ENST00000389362.4	-	3	607	c.572C>T	c.(571-573)cCc>cTc	p.P191L	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	191	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACCTTGGGGCTGGTTGCC	0.597																																																	0			12											133.0	134.0	134.0					12																	11546440		2161	4262	6423	11437707	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.572C>T	12.37:g.11546440G>A	ENSP00000374013:p.Pro191Leu	Somatic		Capture	Illumina HiSeq	Phase_I	11437707	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	11.70	1.717191	0.30413	.	.	ENSG00000121335	ENST00000389362	T	0.04083	3.71	1.56	-3.11	0.05299	.	1.158660	0.07210	U	0.859059	T	0.04770	0.0129	L	0.49778	1.585	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.44174	-0.9345	10	0.54805	T	0.06	.	2.3046	0.04171	0.4478:0.0:0.2522:0.3	.	191	P02812	PRB2_HUMAN	L	191	ENSP00000374013:P191L	ENSP00000374013:P191L	P	-	2	0	PRB2	11437707	0.034000	0.19679	0.000000	0.03702	0.727000	0.41649	1.017000	0.29989	-0.973000	0.03555	0.282000	0.19409	CCC		PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
ETNK1	55500	hgsc.bcm.edu	37	12	22811990	22811990	+	Silent	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr12:22811990A>G	ENST00000266517.4	+	3	815	c.726A>G	c.(724-726)gcA>gcG	p.A242A		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	242					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTATTCATGCACACAATGGCT	0.368																																					Esophageal Squamous(42;87 913 3224 6226 43339)												0			12											101.0	97.0	98.0					12																	22811990		2203	4300	6503	22703257	SO:0001819	synonymous_variant	55500			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.726A>G	12.37:g.22811990A>G		Somatic		Capture	Illumina HiSeq	Phase_I	22703257	G5E969	Silent	SNP	ENST00000266517.4	37	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375172	0.24857	.	.	ENSG00000139163	ENST00000538218;ENST00000541247	.	.	.	5.23	2.82	0.32997	.	.	.	.	.	T	0.52451	0.1735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44112	-0.9349	4	.	.	.	-10.0838	5.1403	0.14955	0.6853:0.1529:0.1618:0.0	.	.	.	.	R	233;122	.	.	H	+	2	0	ETNK1	22703257	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.723000	0.25939	0.793000	0.33875	0.397000	0.26171	CAC		ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638	
TSPAN11	441631	hgsc.bcm.edu	37	12	31106967	31106967	+	Missense_Mutation	SNP	C	C	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr12:31106967C>G	ENST00000261177.9	+	2	101	c.42C>G	c.(40-42)atC>atG	p.I14M	TSPAN11_ENST00000545802.1_Missense_Mutation_p.I14M|TSPAN11_ENST00000546076.1_Missense_Mutation_p.I14M|TSPAN11_ENST00000535215.1_Intron|TSPAN11_ENST00000544427.1_Intron	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	14						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCTGATCATCTACTTGAAGT	0.507																																																	0			12											255.0	193.0	214.0					12																	31106967		2203	4300	6503	30998234	SO:0001583	missense	441631				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.42C>G	12.37:g.31106967C>G	ENSP00000261177:p.Ile14Met	Somatic		Capture	Illumina HiSeq	Phase_I	30998234	A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	37	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	C	9.783	1.175891	0.21704	.	.	ENSG00000110900	ENST00000545802;ENST00000546076;ENST00000261177	T;T	0.36340	1.26;1.26	3.35	3.35	0.38373	.	0.290858	0.26616	U	0.023392	T	0.26122	0.0637	N	0.20574	0.59	0.80722	D	1	B	0.22800	0.075	B	0.36289	0.221	T	0.11792	-1.0573	10	0.49607	T	0.09	.	6.6291	0.22847	0.0:0.8661:0.0:0.1339	.	14	A1L157	TSN11_HUMAN	M	14	ENSP00000437403:I14M;ENSP00000261177:I14M	ENSP00000261177:I14M	I	+	3	3	TSPAN11	30998234	1.000000	0.71417	0.938000	0.37757	0.426000	0.31534	0.997000	0.29731	1.843000	0.53566	0.455000	0.32223	ATC		TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334	
E2F7	144455	hgsc.bcm.edu	37	12	77444416	77444416	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr12:77444416T>C	ENST00000322886.7	-	4	713	c.478A>G	c.(478-480)Agt>Ggt	p.S160G	E2F7_ENST00000416496.2_Missense_Mutation_p.S160G	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	160					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)	p.S160R(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AAGGGATAACTTGGATAGCGA	0.443																																																	1	Substitution - Missense(1)	ovary(1)	12											201.0	184.0	190.0					12																	77444416		2203	4300	6503	75968547	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.478A>G	12.37:g.77444416T>C	ENSP00000323246:p.Ser160Gly	Somatic		Capture	Illumina HiSeq	Phase_I	75968547	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.014967	0.54468	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.18810	2.45;2.19;2.2	5.95	5.95	0.96441	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.075950	0.85682	D	0.000000	T	0.30541	0.0768	L	0.35542	1.07	0.47341	D	0.999398	D;D	0.56968	0.972;0.978	P;P	0.55615	0.673;0.78	T	0.01684	-1.1296	10	0.59425	D	0.04	-18.0679	15.6048	0.76658	0.0:0.0:0.0:1.0	.	160;160	F8VSE7;Q96AV8	.;E2F7_HUMAN	G	160	ENSP00000323246:S160G;ENSP00000393639:S160G;ENSP00000448245:S160G	ENSP00000323246:S160G	S	-	1	0	E2F7	75968547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.715000	0.68430	2.279000	0.76181	0.533000	0.62120	AGT		E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
CEP290	80184	hgsc.bcm.edu	37	12	88474161	88474161	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr12:88474161T>C	ENST00000552810.1	-	38	5367	c.5024A>G	c.(5023-5025)aAc>aGc	p.N1675S	CEP290_ENST00000309041.7_Missense_Mutation_p.N1677S|CEP290_ENST00000397838.3_Missense_Mutation_p.N735S|CEP290_ENST00000547691.2_Missense_Mutation_p.N735S	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1675					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATCTTCATGGTTTTCTTGAAG	0.363																																																	0			12											109.0	97.0	101.0					12																	88474161		1818	4077	5895	86998292	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5024A>G	12.37:g.88474161T>C	ENSP00000448012:p.Asn1675Ser	Somatic		Capture	Illumina HiSeq	Phase_I	86998292	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	6.030	0.373827	0.11409	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	4.35	3.17	0.36434	.	0.424145	0.27420	N	0.019448	T	0.81250	0.4783	N	0.24115	0.695	0.26987	N	0.965227	B	0.17852	0.024	B	0.17433	0.018	T	0.62338	-0.6875	10	0.10111	T	0.7	.	10.8553	0.46796	0.0:0.0:0.1651:0.8349	.	1675	O15078	CE290_HUMAN	S	735;1675;1677;735	ENSP00000446905:N735S;ENSP00000448012:N1675S;ENSP00000308021:N1677S;ENSP00000380938:N735S	ENSP00000308021:N1677S	N	-	2	0	CEP290	86998292	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	3.309000	0.51903	0.614000	0.30107	0.377000	0.23210	AAC		CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CHST11	50515	hgsc.bcm.edu	37	12	105150990	105150990	+	Silent	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr12:105150990C>T	ENST00000303694.5	+	3	907	c.468C>T	c.(466-468)caC>caT	p.H156H	CHST11_ENST00000549260.1_Silent_p.H151H	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	156					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ACGAGGCACACGTCTCCGCCA	0.592																																																	0			12											72.0	71.0	71.0					12																	105150990		2203	4300	6503	103675120	SO:0001819	synonymous_variant	50515			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.468C>T	12.37:g.105150990C>T		Somatic		Capture	Illumina HiSeq	Phase_I	103675120	A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	CCDS9099.1																																																																																				CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413	
HCAR2	338442	hgsc.bcm.edu	37	12	123187815	123187815	+	Missense_Mutation	SNP	G	G	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr12:123187815G>T	ENST00000328880.5	-	1	75	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	6					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TGATCCTGCAGATGGTGCCGA	0.527																																																	0			12											97.0	89.0	92.0					12																	123187815		2203	4300	6503	121753768	SO:0001583	missense	338442			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.16C>A	12.37:g.123187815G>T	ENSP00000375066:p.Leu6Met	Somatic		Capture	Illumina HiSeq	Phase_I	121753768	A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.467024	0.01053	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.62639	0.01	3.47	0.518	0.17030	.	3.538480	0.01061	U	0.004651	T	0.43211	0.1237	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18808	-1.0325	10	0.33141	T	0.24	0.1248	2.9622	0.05896	0.2397:0.0:0.5456:0.2147	.	6	Q8TDS4	HCAR2_HUMAN	M	6	ENSP00000375066:L6M	ENSP00000375066:L6M	L	-	1	2	HCAR2	121753768	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.215000	0.17562	0.106000	0.17784	-0.216000	0.12614	CTG		HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551	
NDNL2	56160	hgsc.bcm.edu	37	15	29561261	29561261	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr15:29561261C>T	ENST00000332303.4	-	1	772	c.649G>A	c.(649-651)Gga>Aga	p.G217R	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	217	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTTGGATCTCCGAAAATTAAA	0.512																																																	0			15											55.0	61.0	59.0					15																	29561261		2203	4300	6503	27348553	SO:0001583	missense	56160			AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.649G>A	15.37:g.29561261C>T	ENSP00000330694:p.Gly217Arg	Somatic		Capture	Illumina HiSeq	Phase_I	27348553	Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920150	0.52653	.	.	ENSG00000185115	ENST00000332303	T	0.05717	3.4	4.1	4.1	0.47936	.	0.059842	0.64402	N	0.000003	T	0.25005	0.0607	M	0.82923	2.615	0.47584	D	0.999466	D	0.76494	0.999	D	0.72625	0.978	T	0.00747	-1.1583	10	0.72032	D	0.01	.	12.1457	0.54022	0.0:1.0:0.0:0.0	.	217	Q96MG7	MAGG1_HUMAN	R	217	ENSP00000330694:G217R	ENSP00000330694:G217R	G	-	1	0	NDNL2	27348553	0.949000	0.32298	0.905000	0.35620	0.231000	0.25187	3.280000	0.51677	2.564000	0.86499	0.563000	0.77884	GGA		NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704	
MGA	23269	hgsc.bcm.edu	37	15	42003205	42003205	+	Silent	SNP	T	T	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr15:42003205T>G	ENST00000570161.1	+	7	2742	c.2742T>G	c.(2740-2742)tcT>tcG	p.S914S	MGA_ENST00000566586.1_Silent_p.S914S|MGA_ENST00000389936.4_Silent_p.S914S|MGA_ENST00000219905.7_Silent_p.S914S|MGA_ENST00000545763.1_Silent_p.S914S			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				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)	CTAAATCATCTTATAAATCCA	0.403																																																	0			15											138.0	137.0	137.0					15																	42003205		1857	4099	5956	39790497	SO:0001819	synonymous_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.2742T>G	15.37:g.42003205T>G		Somatic		Capture	Illumina HiSeq	Phase_I	39790497	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	CCDS55959.1																																																																																				MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
DENND4A	10260	hgsc.bcm.edu	37	15	66044813	66044813	+	Silent	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr15:66044813C>T	ENST00000431932.2	-	4	673	c.465G>A	c.(463-465)acG>acA	p.T155T	DENND4A_ENST00000443035.3_Silent_p.T155T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	155	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGACAGCCAACGTATTCTGAG	0.423																																																	0			15											103.0	95.0	98.0					15																	66044813		1886	4105	5991	63831867	SO:0001819	synonymous_variant	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.465G>A	15.37:g.66044813C>T		Somatic		Capture	Illumina HiSeq	Phase_I	63831867	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	CCDS45285.1																																																																																				DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
KLHL4	56062	hgsc.bcm.edu	37	X	86873048	86873048	+	Missense_Mutation	SNP	C	C	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chrX:86873048C>A	ENST00000373119.4	+	4	986	c.841C>A	c.(841-843)Cct>Act	p.P281T	KLHL4_ENST00000373114.4_Missense_Mutation_p.P281T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	281						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						GCAGCTCCATCCTTCAAACTG	0.428																																																	0			X											107.0	88.0	95.0					X																	86873048		2203	4300	6503	86759704	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.841C>A	X.37:g.86873048C>A	ENSP00000362211:p.Pro281Thr	Somatic		Capture	Illumina HiSeq	Phase_I	86759704	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242197	0.79912	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.76578	-1.03;-1.01	4.74	4.74	0.60224	.	0.061530	0.64402	D	0.000003	D	0.88640	0.6491	M	0.86502	2.82	0.80722	D	1	P;D	0.54964	0.947;0.969	P;D	0.63488	0.768;0.915	D	0.91038	0.4869	10	0.87932	D	0	.	15.9642	0.79952	0.0:1.0:0.0:0.0	.	281;281	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	T	281	ENSP00000362211:P281T;ENSP00000362206:P281T	ENSP00000362206:P281T	P	+	1	0	KLHL4	86759704	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.243000	0.78219	1.960000	0.56953	0.502000	0.49764	CCT		KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
UPF3B	65109	hgsc.bcm.edu	37	X	118975081	118975081	+	Silent	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chrX:118975081T>C	ENST00000276201.2	-	7	834	c.765A>G	c.(763-765)agA>agG	p.R255R	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Silent_p.R255R	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	255	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTCTGGAATTCTGTCTATCT	0.323																																																	0			X											296.0	226.0	250.0					X																	118975081		2203	4299	6502	118859109	SO:0001819	synonymous_variant	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.765A>G	X.37:g.118975081T>C		Somatic		Capture	Illumina HiSeq	Phase_I	118859109	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Silent	SNP	ENST00000276201.2	37	CCDS14588.1																																																																																				UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1		
TENM1	10178	hgsc.bcm.edu	37	X	123630962	123630962	+	Nonsense_Mutation	SNP	A	A	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chrX:123630962A>C	ENST00000371130.3	-	20	3662	c.3599T>G	c.(3598-3600)tTa>tGa	p.L1200*	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Nonsense_Mutation_p.L1200*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1200					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)										GCCAGAAGCTAAGGCGACAGG	0.458																																																	0			X											115.0	103.0	107.0					X																	123630962		2203	4300	6503	123458643	SO:0001587	stop_gained	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.3599T>G	X.37:g.123630962A>C	ENSP00000360171:p.Leu1200*	Somatic		Capture	Illumina HiSeq	Phase_I	123458643	B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	46	12.159681	0.99642	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3411	0.66627	1.0:0.0:0.0:0.0	.	.	.	.	X	1200	.	ENSP00000360171:L1200X	L	-	2	0	ODZ1	123458643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	1.765000	0.52091	0.486000	0.48141	TTA		TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
SORCS2	57537	hgsc.bcm.edu	37	4	7398082	7398082	+	Splice_Site	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr4:7398082G>A	ENST00000507866.2	+	2	657	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	SORCS2_ENST00000329016.9_Splice_Site_p.R11Q|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	183					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTCTGTGGCGGTAAGTCAGC	0.522																																																	0			4											111.0	113.0	112.0					4																	7398082		2060	4194	6254	7448983	SO:0001630	splice_region_variant	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.548+1G>A	4.37:g.7398082G>A		Somatic		Capture	Illumina HiSeq	Phase_I	7448983	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242627	0.95272	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.37584	1.19;1.19	5.64	5.64	0.86602	VPS10 (1);	0.193290	0.30142	N	0.010305	T	0.52677	0.1749	M	0.70595	2.14	0.41663	D	0.98919	D;D	0.69078	0.99;0.997	P;P	0.53035	0.716;0.716	T	0.57213	-0.7850	10	0.72032	D	0.01	.	17.187	0.86869	0.0:0.0:1.0:0.0	.	11;183	B5MED8;Q96PQ0	.;SORC2_HUMAN	Q	183;11	ENSP00000422185:R183Q;ENSP00000329124:R11Q	ENSP00000329124:R11Q	R	+	2	0	SORCS2	7448983	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.767000	0.62286	2.661000	0.90470	0.655000	0.94253	CGG		SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	Missense_Mutation
AFM	173	hgsc.bcm.edu	37	4	74354468	74354468	+	Missense_Mutation	SNP	C	C	T	rs368606268		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr4:74354468C>T	ENST00000226355.3	+	7	928	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	279	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				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)			GCAGTGCATCCGTGACACGGT	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16210	0.0		0.0	False		,,,				2504	0.0																0			4						C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	142.0	142.0	142.0		835	3.5	0.1	4		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	AFM	NM_001133.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	279/600	74354468	2,13004	2203	4300	6503	74573332	SO:0001583	missense	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.835C>T	4.37:g.74354468C>T	ENSP00000226355:p.Arg279Cys	Somatic		Capture	Illumina HiSeq	Phase_I	74573332	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693772	0.48202	2.27E-4	1.16E-4	ENSG00000079557	ENST00000226355	T	0.74315	-0.83	5.27	3.53	0.40419	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.769783	0.12691	N	0.447209	D	0.83166	0.5195	M	0.76574	2.34	0.20074	N	0.999934	D	0.89917	1.0	D	0.65773	0.938	T	0.70894	-0.4748	10	0.87932	D	0	.	8.3628	0.32369	0.0:0.8161:0.0:0.1839	.	279	P43652	AFAM_HUMAN	C	279	ENSP00000226355:R279C	ENSP00000226355:R279C	R	+	1	0	AFM	74573332	0.000000	0.05858	0.082000	0.20525	0.013000	0.08279	0.315000	0.19451	0.599000	0.29845	0.655000	0.94253	CGT		AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
SORBS2	8470	hgsc.bcm.edu	37	4	186544776	186544776	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr4:186544776C>T	ENST00000284776.7	-	13	2304	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.D503N|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.D699N|SORBS2_ENST00000431808.1_Missense_Mutation_p.D599N	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	599					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCGTCCTGGTCGCTGTCGGAA	0.567																																					Esophageal Squamous(153;41 2433 9491 36028)												0			4											59.0	56.0	57.0					4																	186544776		2203	4300	6503	186781770	SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1795G>A	4.37:g.186544776C>T	ENSP00000284776:p.Asp599Asn	Somatic		Capture	Illumina HiSeq	Phase_I	186781770	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926424	0.73327	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.37915	1.29;1.29;1.17;1.28	5.88	5.88	0.94601	.	0.133309	0.64402	D	0.000002	T	0.57095	0.2030	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.99;0.993	T	0.49153	-0.8969	10	0.42905	T	0.14	-35.233	20.2405	0.98372	0.0:1.0:0.0:0.0	.	503;699;599	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	N	599;599;503;699	ENSP00000284776:D599N;ENSP00000411764:D599N;ENSP00000397482:D503N;ENSP00000347852:D699N	ENSP00000284776:D599N	D	-	1	0	SORBS2	186781770	1.000000	0.71417	0.979000	0.43373	0.546000	0.35178	7.818000	0.86416	2.797000	0.96272	0.561000	0.74099	GAC		SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	
USP34	9736	hgsc.bcm.edu	37	2	61522383	61522383	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr2:61522383T>C	ENST00000398571.2	-	31	4373	c.4297A>G	c.(4297-4299)Agc>Ggc	p.S1433G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1433					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGTGGGCGCTCTTAATTTTG	0.343																																																	0			2											106.0	99.0	101.0					2																	61522383		1809	4069	5878	61375887	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4297A>G	2.37:g.61522383T>C	ENSP00000381577:p.Ser1433Gly	Somatic		Capture	Illumina HiSeq	Phase_I	61375887	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804917	0.70682	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03951	3.75	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.55990	1.75	0.58432	D	0.999997	P	0.49447	0.924	P	0.57776	0.827	T	0.00254	-1.1874	10	0.72032	D	0.01	.	14.0369	0.64651	0.0:0.0:0.0:1.0	.	1433	Q70CQ2	UBP34_HUMAN	G	1281;1281;1433	ENSP00000381577:S1433G	ENSP00000263989:S1281G	S	-	1	0	USP34	61375887	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.174000	0.71943	1.906000	0.55180	0.533000	0.62120	AGC		USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
SCN1A	6323	hgsc.bcm.edu	37	2	166848033	166848033	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr2:166848033A>G	ENST00000303395.4	-	26	5751	c.5752T>C	c.(5752-5754)Tct>Cct	p.S1918P	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1907P|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1890P|SCN1A_ENST00000423058.2_Missense_Mutation_p.S1918P			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1918	IQ.				adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGACAGCAGATACTTCCTCT	0.408																																																	0			2											104.0	98.0	100.0					2																	166848033		2203	4300	6503	166556279	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5752T>C	2.37:g.166848033A>G	ENSP00000303540:p.Ser1918Pro	Somatic		Capture	Illumina HiSeq	Phase_I	166556279	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.031739	0.54790	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96685	-4.09;-4.09;-4.05;-4.04	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000008	D	0.98394	0.9466	M	0.89601	3.045	0.58432	D	0.999992	D	0.89917	1.0	D	0.79784	0.993	D	0.99445	1.0939	10	0.72032	D	0.01	.	16.0863	0.81056	1.0:0.0:0.0:0.0	.	1907	P35498-2	.	P	1918;1918;1907;1890	ENSP00000407030:S1918P;ENSP00000303540:S1918P;ENSP00000364554:S1907P;ENSP00000386312:S1890P	ENSP00000303540:S1918P	S	-	1	0	SCN1A	166556279	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.253000	0.78320	2.197000	0.70478	0.454000	0.30748	TCT		SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
XIRP2	129446	hgsc.bcm.edu	37	2	168100111	168100111	+	Missense_Mutation	SNP	G	G	A	rs201995517		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr2:168100111G>A	ENST00000409195.1	+	9	2298	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	562					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAATGTTTCGAAACTCAACC	0.373																																																	0			2						G	LYS/GLU,LYS/GLU,,,	1,3701		0,1,1850	58.0	55.0	56.0		1543,2209,,,	5.9	1.0	2		56	4,8172		0,4,4084	yes	missense,missense,intron,intron,intron	XIRP2	NM_001199144.1,NM_152381.5,NM_001079810.3,NM_001199143.1,NM_001199145.1	56,56,,,	0,5,5934	AA,AG,GG		0.0489,0.027,0.0421	probably-damaging,probably-damaging,,,	515/3328,737/3550,,,	168100111	5,11873	1851	4088	5939	167808357	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2209G>A	2.37:g.168100111G>A	ENSP00000386840:p.Glu737Lys	Somatic		Capture	Illumina HiSeq	Phase_I	167808357	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390983	0.82902	2.7E-4	4.89E-4	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03330	3.97;3.97;3.97	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.993;0.993	T	0.00180	-1.1949	10	0.66056	D	0.02	-23.554	19.9164	0.97064	0.0:0.0:1.0:0.0	.	562;562;515	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	737;737;515	ENSP00000386840:E737K;ENSP00000295237:E737K;ENSP00000387255:E515K	ENSP00000295237:E737K	E	+	1	0	XIRP2	167808357	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.380000	0.66202	2.810000	0.96702	0.650000	0.86243	GAA		XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
TTN	7273	hgsc.bcm.edu	37	2	179414890	179414890	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr2:179414890T>C	ENST00000591111.1	-	287	86976	c.86752A>G	c.(86752-86754)Act>Gct	p.T28918A	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T21619A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T30559A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T27991A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T21494A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T21686A|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28918	Ig-like 133.				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.T21494S(1)|p.T27989S(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)			TTGAACCAAGTTACTCGAGGC	0.428																																																	2	Substitution - Missense(2)	ovary(2)	2											204.0	200.0	201.0					2																	179414890		1869	4109	5978	179123136	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.86752A>G	2.37:g.179414890T>C	ENSP00000465570:p.Thr28918Ala	Somatic		Capture	Illumina HiSeq	Phase_I	179123136	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	Silent	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	16.03	3.007683	0.54361	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69967	0.3170	M	0.80982	2.52	0.33697	D	0.614028	P;P;P;P	0.38617	0.454;0.454;0.454;0.64	B;B;B;B	0.40602	0.266;0.266;0.266;0.334	T	0.81846	-0.0745	9	0.87932	D	0	.	10.6581	0.45686	0.0:0.0714:0.0:0.9286	.	21494;21619;21686;28918	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	27991;21494;21686;21619;21491	ENSP00000343764:T27991A;ENSP00000434586:T21494A;ENSP00000340554:T21686A;ENSP00000352154:T21619A	ENSP00000340554:T21686A	T	-	1	0	TTN	179123136	0.921000	0.31238	1.000000	0.80357	0.987000	0.75469	1.254000	0.32897	2.317000	0.78254	0.460000	0.39030	ACT		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179425005	179425005	+	Silent	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr2:179425005T>C	ENST00000591111.1	-	276	81155	c.80931A>G	c.(80929-80931)ggA>ggG	p.G26977G	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.G19678G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.G28618G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.G26050G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.G19553G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G19745G|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26977	Fibronectin type-III 96. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.G26048G(1)|p.G19553G(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)			CATATTCACATCCTTCCCGAA	0.398																																																	2	Substitution - coding silent(2)	ovary(2)	2											103.0	101.0	102.0					2																	179425005		1912	4125	6037	179133251	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.80931A>G	2.37:g.179425005T>C		Somatic		Capture	Illumina HiSeq	Phase_I	179133251	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																																																																																					TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PAX5	5079	hgsc.bcm.edu	37	9	37015164	37015164	+	Silent	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr9:37015164A>G	ENST00000358127.4	-	3	314	c.240T>C	c.(238-240)ccT>ccC	p.P80P	PAX5_ENST00000377852.2_Silent_p.P80P|PAX5_ENST00000520281.1_Silent_p.P80P|PAX5_ENST00000377853.2_Silent_p.P80P|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000523241.1_Silent_p.P80P|PAX5_ENST00000520154.1_Silent_p.P80P|PAX5_ENST00000414447.1_Silent_p.P80P|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377847.2_Silent_p.P80P	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	80	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		P -> R. {ECO:0000269|PubMed:24013638}.		humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	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)	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CAATTACCCCAGGCTTGATGC	0.458			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																			Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	42	Unknown(42)	haematopoietic_and_lymphoid_tissue(42)	9											197.0	203.0	201.0					9																	37015164		2203	4300	6503	37005164	SO:0001819	synonymous_variant	5079				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.240T>C	9.37:g.37015164A>G		Somatic		Capture	Illumina HiSeq	Phase_I	37005164	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Silent	SNP	ENST00000358127.4	37	CCDS6607.1																																																																																				PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		
ERP44	23071	hgsc.bcm.edu	37	9	102768907	102768907	+	Silent	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr9:102768907G>A	ENST00000262455.6	-	10	1096	c.897C>T	c.(895-897)gcC>gcT	p.A299A		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	299					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TGTCACAATCGGCATGTAAAA	0.318																																																	0			9											88.0	90.0	90.0					9																	102768907		2203	4300	6503	101808728	SO:0001819	synonymous_variant	23071			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.897C>T	9.37:g.102768907G>A		Somatic		Capture	Illumina HiSeq	Phase_I	101808728	O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Silent	SNP	ENST00000262455.6	37	CCDS35082.1																																																																																				ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476	
SVEP1	79987	hgsc.bcm.edu	37	9	113341377	113341377	+	Silent	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr9:113341377C>T	ENST00000401783.2	-	1	783	c.447G>A	c.(445-447)aaG>aaA	p.K149K	SVEP1_ENST00000374461.1_Silent_p.K126K|SVEP1_ENST00000302728.8_Silent_p.K149K|SVEP1_ENST00000374469.1_Silent_p.K126K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	149	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCAGCGCGCACTTGTGCTGGC	0.682																																																	0			9											6.0	8.0	7.0					9																	113341377		1867	3982	5849	112381198	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.447G>A	9.37:g.113341377C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112381198	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
OR1N1	138883	hgsc.bcm.edu	37	9	125288888	125288888	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr9:125288888G>A	ENST00000304880.2	-	1	684	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACCCCACCACGGGTTCGGACC	0.547																																																	0			9											87.0	74.0	78.0					9																	125288888		2203	4300	6503	124328709	SO:0001583	missense	138883			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.685C>T	9.37:g.125288888G>A	ENSP00000306974:p.Arg229Cys	Somatic		Capture	Illumina HiSeq	Phase_I	124328709	A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	G	9.934	1.215749	0.22373	.	.	ENSG00000171505	ENST00000304880	T	0.00137	8.68	3.75	-4.13	0.03904	GPCR, rhodopsin-like superfamily (1);	1.158660	0.07121	U	0.843857	T	0.00073	0.0002	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09662	-1.0664	10	0.72032	D	0.01	.	7.354	0.26709	0.2477:0.4455:0.3069:0.0	.	229	Q8NGS0	OR1N1_HUMAN	C	229	ENSP00000306974:R229C	ENSP00000306974:R229C	R	-	1	0	OR1N1	124328709	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.952000	0.01528	-0.669000	0.05289	-0.300000	0.09419	CGT		OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1		
NELFB	25920	hgsc.bcm.edu	37	9	140160820	140160820	+	Missense_Mutation	SNP	C	C	T	rs150102832		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr9:140160820C>T	ENST00000343053.4	+	8	1374	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	346					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CGGCTGCTGGCGCTGGGCCAG	0.662																																																	0			9						C	VAL/ALA	0,4380		0,0,2190	32.0	31.0	31.0		1037	5.4	1.0	9	dbSNP_134	31	1,8559		0,1,4279	no	missense	COBRA1	NM_015456.3	64	0,1,6469	TT,TC,CC		0.0117,0.0,0.0077	benign	346/581	140160820	1,12939	2190	4280	6470	139280641	SO:0001583	missense	25920			AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1037C>T	9.37:g.140160820C>T	ENSP00000339495:p.Ala346Val	Somatic		Capture	Illumina HiSeq	Phase_I	139280641	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.796228	0.70567	0.0	1.17E-4	ENSG00000188986	ENST00000343053	.	.	.	5.36	5.36	0.76844	.	0.102696	0.64402	D	0.000002	T	0.44540	0.1298	N	0.12961	0.28	0.51012	D	0.999909	B	0.31611	0.331	B	0.31337	0.128	T	0.49597	-0.8923	9	0.66056	D	0.02	-41.6393	17.637	0.88125	0.0:1.0:0.0:0.0	.	346	Q8WX92	NELFB_HUMAN	V	346	.	ENSP00000339495:A346V	A	+	2	0	COBRA1	139280641	1.000000	0.71417	0.955000	0.39395	0.957000	0.61999	4.709000	0.61867	2.506000	0.84524	0.491000	0.48974	GCG		NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456	
EHMT1	79813	hgsc.bcm.edu	37	9	140707887	140707887	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr9:140707887G>A	ENST00000460843.1	+	21	3112	c.3085G>A	c.(3085-3087)Gtg>Atg	p.V1029M		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1029					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)		TGTCAACGCCGTGGACAGCGA	0.587																																																	0			9											143.0	83.0	103.0					9																	140707887		2203	4300	6503	139827708	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.3085G>A	9.37:g.140707887G>A	ENSP00000417980:p.Val1029Met	Somatic		Capture	Illumina HiSeq	Phase_I	139827708	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350199	0.61183	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	D	0.90676	-2.71	4.99	4.09	0.47781	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.121948	0.56097	D	0.000031	D	0.95790	0.8630	M	0.94021	3.485	0.80722	D	1	P	0.50819	0.939	P	0.60789	0.879	D	0.96247	0.9180	10	0.72032	D	0.01	.	13.3558	0.60627	0.0764:0.0:0.9236:0.0	.	1029	Q9H9B1	EHMT1_HUMAN	M	998;1029	ENSP00000417980:V1029M	ENSP00000360453:V998M	V	+	1	0	EHMT1	139827708	1.000000	0.71417	0.702000	0.30337	0.081000	0.17604	6.624000	0.74243	1.089000	0.41292	0.655000	0.94253	GTG		EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	
TPTE2	93492	hgsc.bcm.edu	37	13	20039692	20039692	+	Missense_Mutation	SNP	T	T	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr13:20039692T>A	ENST00000400230.2	-	8	569	c.525A>T	c.(523-525)ttA>ttT	p.L175F	TPTE2_ENST00000382977.4_Missense_Mutation_p.L175F|TPTE2_ENST00000382978.1_Missense_Mutation_p.L135F|TPTE2_ENST00000457266.2_Missense_Mutation_p.L64F|TPTE2_ENST00000390680.2_Missense_Mutation_p.L98F|TPTE2_ENST00000255310.6_Missense_Mutation_p.L98F|TPTE2_ENST00000382975.4_Missense_Mutation_p.L135F|TPTE2_ENST00000400103.2_Missense_Mutation_p.L64F			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	175					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GAAGTCGAACTAAATGTGTCC	0.323																																																	0			13											34.0	33.0	33.0					13																	20039692		2200	4299	6499	18937692	SO:0001583	missense	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.525A>T	13.37:g.20039692T>A	ENSP00000383089:p.Leu175Phe	Somatic		Capture	Illumina HiSeq	Phase_I	18937692	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	t	4.587	0.109009	0.08780	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98822	-4.34;-3.88;-5.16;-4.34;-4.34;-5.16;-4.34;-3.88	2.79	-3.67	0.04476	Ion transport (1);	0.260709	0.33772	U	0.004569	D	0.92609	0.7652	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30584	0.286;0.047;0.039	B;B;B	0.27796	0.039;0.032;0.083	D	0.88373	0.2996	9	.	.	.	-6.3457	1.1417	0.01766	0.1887:0.1283:0.3851:0.2978	.	64;98;175	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	F	135;64;175;98;98;175;135;64;175;44	ENSP00000372438:L135F;ENSP00000382974:L64F;ENSP00000383089:L175F;ENSP00000255310:L98F;ENSP00000375098:L98F;ENSP00000372437:L175F;ENSP00000372435:L135F;ENSP00000442218:L64F	.	L	-	3	2	TPTE2	18937692	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.764000	0.04735	-0.737000	0.04824	0.383000	0.25322	TTA		TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
NAA16	79612	hgsc.bcm.edu	37	13	41943234	41943234	+	Missense_Mutation	SNP	T	T	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr13:41943234T>A	ENST00000379406.3	+	15	2086	c.1762T>A	c.(1762-1764)Tca>Aca	p.S588T	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	588					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AGAAAACTTGTCAGCCAAAGA	0.343																																																	0			13											79.0	86.0	83.0					13																	41943234		2203	4300	6503	40841234	SO:0001583	missense	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1762T>A	13.37:g.41943234T>A	ENSP00000368716:p.Ser588Thr	Somatic		Capture	Illumina HiSeq	Phase_I	40841234	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953072	0.34471	.	.	ENSG00000172766	ENST00000379406	T	0.47528	0.84	5.67	5.67	0.87782	.	0.220930	0.32416	N	0.006138	T	0.37376	0.1001	L	0.33624	1.015	0.80722	D	1	B	0.19331	0.035	B	0.26864	0.074	T	0.18429	-1.0337	10	0.10636	T	0.68	-9.8749	14.4926	0.67663	0.0:0.0:0.0:1.0	.	588	Q6N069	NAA16_HUMAN	T	588	ENSP00000368716:S588T	ENSP00000368716:S588T	S	+	1	0	NAA16	40841234	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.444000	0.44890	2.161000	0.67846	0.533000	0.62120	TCA		NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
RBM26	64062	hgsc.bcm.edu	37	13	79933778	79933778	+	Silent	SNP	T	T	C	rs372998044		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr13:79933778T>C	ENST00000438737.2	-	10	1901	c.1461A>G	c.(1459-1461)tcA>tcG	p.S487S	RBM26_ENST00000267229.7_Silent_p.S487S|RBM26_ENST00000438724.1_Silent_p.S487S			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	487					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S487S(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCCTTGATTCTGAGTCCACTA	0.343																																																	1	Substitution - coding silent(1)	ovary(1)	13						T		1,4405	2.1+/-5.4	0,1,2202	151.0	143.0	146.0		1461	5.7	1.0	13		146	0,8600		0,0,4300	no	coding-synonymous	RBM26	NM_022118.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		487/981	79933778	1,13005	2203	4300	6503	78831779	SO:0001819	synonymous_variant	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1461A>G	13.37:g.79933778T>C		Somatic		Capture	Illumina HiSeq	Phase_I	78831779	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	ENST00000438737.2	37																																																																																					RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118	
LIG4	3981	hgsc.bcm.edu	37	13	108861616	108861616	+	Missense_Mutation	SNP	C	C	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr13:108861616C>G	ENST00000356922.4	-	2	2273	c.2001G>C	c.(1999-2001)atG>atC	p.M667I	LIG4_ENST00000442234.1_Missense_Mutation_p.M667I|LIG4_ENST00000405925.1_Missense_Mutation_p.M667I	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	667	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTGTTCCACTCATAACACAAA	0.363								Non-homologous end-joining																																									0			13											70.0	72.0	71.0					13																	108861616		2203	4300	6503	107659617	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2001G>C	13.37:g.108861616C>G	ENSP00000349393:p.Met667Ile	Somatic		Capture	Illumina HiSeq	Phase_I	107659617	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	3.334	-0.136117	0.06711	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.60040	0.22;0.22;0.22	5.69	5.69	0.88448	BRCT (4);	0.085609	0.85682	D	0.000000	T	0.47801	0.1465	L	0.28344	0.845	0.47905	D	0.999544	B	0.17465	0.022	B	0.12837	0.008	T	0.30357	-0.9981	10	0.30078	T	0.28	.	18.8676	0.92300	0.0:1.0:0.0:0.0	.	667	P49917	DNLI4_HUMAN	I	667	ENSP00000385955:M667I;ENSP00000402030:M667I;ENSP00000349393:M667I	ENSP00000349393:M667I	M	-	3	0	LIG4	107659617	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	2.531000	0.45650	2.688000	0.91661	0.539000	0.68188	ATG		LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312	
KIN	22944	hgsc.bcm.edu	37	10	7822037	7822037	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr10:7822037T>C	ENST00000379562.4	-	4	405	c.358A>G	c.(358-360)Aag>Gag	p.K120E	KIN_ENST00000543003.1_Missense_Mutation_p.K14E|KIN_ENST00000535925.1_Missense_Mutation_p.K120E	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CCCAGCCACTTAGTAAAATCA	0.403																																																	0			10											169.0	150.0	156.0					10																	7822037		2203	4300	6503	7862043	SO:0001583	missense	22944			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.358A>G	10.37:g.7822037T>C	ENSP00000368881:p.Lys120Glu	Somatic		Capture	Illumina HiSeq	Phase_I	7862043		Missense_Mutation	SNP	ENST00000379562.4	37	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.252724	0.59212	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	5.74	5.74	0.90152	DNA/RNA-binding protein Kin17, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.80879	0.4708	M	0.85542	2.76	0.80722	D	1	P;D;D	0.58970	0.75;0.984;0.984	B;D;D	0.75484	0.111;0.986;0.986	T	0.83127	-0.0115	9	0.54805	T	0.06	-27.9075	14.6061	0.68481	0.0:0.0:0.0:1.0	.	14;120;120	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	E	120;120;14	.	ENSP00000368881:K120E	K	-	1	0	KIN	7862043	1.000000	0.71417	0.926000	0.36857	0.730000	0.41778	7.649000	0.83500	2.186000	0.69663	0.533000	0.62120	AAG		KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	
MYO3A	53904	hgsc.bcm.edu	37	10	26359311	26359311	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr10:26359311A>G	ENST00000265944.5	+	14	1506	c.1340A>G	c.(1339-1341)cAg>cGg	p.Q447R	MYO3A_ENST00000543632.1_Missense_Mutation_p.Q447R	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	447	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTAGTTCAGCAGCTGACAGTG	0.313																																																	0			10											93.0	92.0	92.0					10																	26359311		2203	4299	6502	26399317	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1340A>G	10.37:g.26359311A>G	ENSP00000265944:p.Gln447Arg	Somatic		Capture	Illumina HiSeq	Phase_I	26399317	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700463	0.88924	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	D;D	0.87103	-2.21;-2.21	5.79	5.79	0.91817	Myosin head, motor domain (3);	0.051914	0.85682	D	0.000000	D	0.92446	0.7602	M	0.81341	2.54	0.80722	D	1	P;P;D	0.57257	0.554;0.608;0.979	B;B;P	0.59825	0.248;0.342;0.864	D	0.92133	0.5714	10	0.40728	T	0.16	.	16.1223	0.81369	1.0:0.0:0.0:0.0	.	447;447;447	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	R	447	ENSP00000265944:Q447R;ENSP00000445909:Q447R	ENSP00000265944:Q447R	Q	+	2	0	MYO3A	26399317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.988000	0.93501	2.201000	0.70794	0.528000	0.53228	CAG		MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
ZEB1	6935	hgsc.bcm.edu	37	10	31809758	31809758	+	Missense_Mutation	SNP	G	G	T	rs139511659		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr10:31809758G>T	ENST00000320985.10	+	7	1605	c.1495G>T	c.(1495-1497)Gct>Tct	p.A499S	ZEB1_ENST00000361642.5_Missense_Mutation_p.A500S|ZEB1_ENST00000560721.2_Missense_Mutation_p.A479S|ZEB1_ENST00000446923.2_Missense_Mutation_p.A483S|ZEB1_ENST00000542815.3_Missense_Mutation_p.A432S|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	499					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)				AAATCCAGTCGCTACAAACAG	0.373																																					Ovarian(40;423 959 14296 36701 49589)												0			10											53.0	62.0	59.0					10																	31809758		2203	4300	6503	31849764	SO:0001583	missense	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.1495G>T	10.37:g.31809758G>T	ENSP00000319248:p.Ala499Ser	Somatic		Capture	Illumina HiSeq	Phase_I	31849764	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086146	0.07097	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.45	4.54	0.55810	.	0.186906	0.38436	N	0.001691	T	0.53610	0.1807	N	0.08118	0	0.24075	N	0.995965	B;B;B;B;B;B;B;B	0.28933	0.006;0.047;0.228;0.004;0.028;0.005;0.068;0.004	B;B;B;B;B;B;B;B	0.26517	0.002;0.034;0.07;0.0;0.015;0.002;0.025;0.0	T	0.28964	-1.0027	10	0.10636	T	0.68	-6.672	16.624	0.84937	0.0:0.8678:0.1321:0.0	.	432;499;483;499;499;479;500;499	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	S	281;499;500;499;432;499;479;358;390;483	ENSP00000444282:A281S;ENSP00000354487:A500S;ENSP00000444891:A432S;ENSP00000319248:A499S;ENSP00000391612:A483S	ENSP00000319248:A499S	A	+	1	0	ZEB1	31849764	0.770000	0.28543	0.979000	0.43373	0.912000	0.54170	1.551000	0.36233	1.442000	0.47568	-0.147000	0.13772	GCT		ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
RET	5979	hgsc.bcm.edu	37	10	43610157	43610157	+	Missense_Mutation	SNP	G	G	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr10:43610157G>C	ENST00000355710.3	+	11	2341	c.2109G>C	c.(2107-2109)caG>caC	p.Q703H	RET_ENST00000340058.5_Missense_Mutation_p.Q703H	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	703					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGGAGAACCAGGTCTCCGTGG	0.682		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0			10											31.0	31.0	31.0					10																	43610157		2203	4300	6503	42930163	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2109G>C	10.37:g.43610157G>C	ENSP00000347942:p.Gln703His	Somatic		Capture	Illumina HiSeq	Phase_I	42930163	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364016	0.61513	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.89123	-2.47;-2.47	4.88	3.02	0.34903	.	0.000000	0.85682	D	0.000000	D	0.87446	0.6179	N	0.24115	0.695	0.48288	D	0.99962	P;D;D	0.63046	0.918;0.986;0.992	B;P;D	0.64144	0.429;0.838;0.922	T	0.82868	-0.0244	10	0.21540	T	0.41	.	11.1557	0.48486	0.1501:0.0:0.8499:0.0	.	449;703;703	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	H	703	ENSP00000347942:Q703H;ENSP00000344798:Q703H	ENSP00000344798:Q703H	Q	+	3	2	RET	42930163	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.875000	0.48491	0.659000	0.30945	-0.291000	0.09656	CAG		RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
CHAT	1103	hgsc.bcm.edu	37	10	50822317	50822317	+	Silent	SNP	A	A	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr10:50822317A>C	ENST00000337653.2	+	1	235	c.82A>C	c.(82-84)Agg>Cgg	p.R28R	CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000460699.1_Intron|CHAT_ENST00000395559.2_Intron|CHAT_ENST00000395562.2_5'UTR|CHAT_ENST00000351556.3_Intron	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	28					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	tacaagaggaaggagagAAGT	0.687																																																	0			10											9.0	11.0	10.0					10																	50822317		1943	3766	5709	50492323	SO:0001819	synonymous_variant	10044			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.82A>C	10.37:g.50822317A>C		Somatic		Capture	Illumina HiSeq	Phase_I	50492323	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	CCDS7232.1																																																																																				CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
CDH18	1016	hgsc.bcm.edu	37	5	19473693	19473693	+	Missense_Mutation	SNP	T	T	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr5:19473693T>A	ENST00000507958.1	-	15	3005	c.2015A>T	c.(2014-2016)gAc>gTc	p.D672V	CDH18_ENST00000274170.4_Missense_Mutation_p.D672V|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D672V|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000502796.1_3'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	672					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGCTGTGATGTCAAAGGCCTC	0.507																																																	0			5											153.0	145.0	148.0					5																	19473693		2203	4300	6503	19509450	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2015A>T	5.37:g.19473693T>A	ENSP00000425093:p.Asp672Val	Somatic		Capture	Illumina HiSeq	Phase_I	19509450	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641053	0.87859	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	D;D;D	0.83837	-1.77;-1.77;-1.77	6.16	6.16	0.99307	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	H	0.95004	3.61	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.94923	0.8075	9	.	.	.	.	15.6301	0.76899	0.0:0.0:0.0:1.0	.	672	Q13634	CAD18_HUMAN	V	672	ENSP00000371710:D672V;ENSP00000425093:D672V;ENSP00000274170:D672V	.	D	-	2	0	CDH18	19509450	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.035000	0.88872	2.367000	0.80283	0.528000	0.53228	GAC		CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
ACTBL2	345651	hgsc.bcm.edu	37	5	56778092	56778092	+	Missense_Mutation	SNP	C	C	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr5:56778092C>T	ENST00000423391.1	-	1	544	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	148						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GCCTGTGGTCCGTCCTGAGGC	0.537																																																	0			5											106.0	91.0	96.0					5																	56778092		2203	4300	6503	56813849	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.443G>A	5.37:g.56778092C>T	ENSP00000416706:p.Arg148Gln	Somatic		Capture	Illumina HiSeq	Phase_I	56813849	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434339	0.62955	.	.	ENSG00000169067	ENST00000423391	D	0.94613	-3.47	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000008	D	0.98027	0.9350	H	0.96398	3.815	0.50313	D	0.999862	D	0.76494	0.999	D	0.71184	0.972	D	0.99123	1.0850	10	0.87932	D	0	.	15.1626	0.72795	0.0:1.0:0.0:0.0	.	148	Q562R1	ACTBL_HUMAN	Q	148	ENSP00000416706:R148Q	ENSP00000416706:R148Q	R	-	2	0	ACTBL2	56813849	1.000000	0.71417	0.992000	0.48379	0.911000	0.54048	5.895000	0.69814	2.416000	0.81992	0.655000	0.94253	CGG		ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
APC	324	hgsc.bcm.edu	37	5	112175754	112175755	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T|A	T|A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr5:112175754_112175755TA>AT	ENST00000457016.1	+	16	4843_4844	c.4463_4464TA>AT	c.(4462-4464)tTA>tAT	p.L1488Y	APC_ENST00000257430.4_Missense_Mutation_p.L1488Y|APC_ENST00000508376.2_Missense_Mutation_p.L1488Y|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1488	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.L1488fs*18(18)|p.L1488fs*19(12)|p.T1487fs*17(10)|p.L1488*(3)|p.L1488fs*23(3)|p.L1488fs*25(2)|p.L1489fs*19(2)|p.?(1)|p.K1454fs*3(1)|p.L1488F(1)|p.T1487fs*25(1)|p.L1488fs*13(1)|p.K1192fs*3(1)|p.T1487fs*23(1)|p.L1488fs*20(1)|p.L1488fs*22(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCTGATACTTTATTACATTTTG	0.441		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	59	Deletion - Frameshift(49)|Insertion - Frameshift(3)|Substitution - Nonsense(3)|Complex - frameshift(2)|Unknown(1)|Substitution - Missense(1)	large_intestine(54)|thyroid(1)|soft_tissue(1)|small_intestine(1)|lung(1)|skin(1)	5	GRCh37	CI002198	APC	I																																				112203653|112203654	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	Exception_encountered	5.37:g.112175754_112175755delinsAT	ENSP00000413133:p.Leu1488Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	112203653|112203654	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112176817	112176817	+	Silent	SNP	A	A	G	rs577725739		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr5:112176817A>G	ENST00000457016.1	+	16	5906	c.5526A>G	c.(5524-5526)tcA>tcG	p.S1842S	APC_ENST00000257430.4_Silent_p.S1842S|APC_ENST00000508376.2_Silent_p.S1842S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1842	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTTTTGATTCACCTCATCATT	0.338		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			A|||	1	0.000199681	0.0	0.0	5008	,	,		19615	0.001		0.0	False		,,,				2504	0.0				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)	5											96.0	88.0	91.0					5																	112176817		2202	4300	6502	112204716	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5526A>G	5.37:g.112176817A>G		Somatic		Capture	Illumina HiSeq	Phase_I	112204716	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
TRIM36	55521	hgsc.bcm.edu	37	5	114469836	114469836	+	Missense_Mutation	SNP	C	C	T	rs147215007	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr5:114469836C>T	ENST00000282369.3	-	8	1376	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	TRIM36_ENST00000513154.1_Missense_Mutation_p.V407M|TRIM36_ENST00000514154.1_Missense_Mutation_p.V264M	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	419	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATCTCTGGCACGTCTATGCCT	0.313													C|||	7	0.00139776	0.0	0.0014	5008	,	,		15064	0.0		0.004	False		,,,				2504	0.002																0			5						C	MET/VAL	1,4403	2.1+/-5.4	0,1,2201	70.0	65.0	67.0		1255	3.1	1.0	5	dbSNP_134	67	24,8576	17.3+/-56.4	0,24,4276	yes	missense	TRIM36	NM_018700.3	21	0,25,6477	TT,TC,CC		0.2791,0.0227,0.1922	benign	419/729	114469836	25,12979	2202	4300	6502	114497735	SO:0001583	missense	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1255G>A	5.37:g.114469836C>T	ENSP00000282369:p.Val419Met	Somatic		Capture	Illumina HiSeq	Phase_I	114497735	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	10.77	1.443597	0.25987	2.27E-4	0.002791	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.64618	0.57;0.69;-0.11	5.28	3.11	0.35812	Fibronectin, type III (3);	0.387682	0.31507	N	0.007529	T	0.40546	0.1121	L	0.44542	1.39	0.80722	D	1	B;B	0.16396	0.017;0.013	B;B	0.09377	0.003;0.004	T	0.44019	-0.9355	10	0.49607	T	0.09	.	5.969	0.19340	0.0:0.5732:0.0:0.4268	.	407;419	E9PFI8;Q9NQ86	.;TRI36_HUMAN	M	419;407;264	ENSP00000282369:V419M;ENSP00000423934:V407M;ENSP00000424259:V264M	ENSP00000282369:V419M	V	-	1	0	TRIM36	114497735	0.999000	0.42202	0.999000	0.59377	0.765000	0.43378	0.761000	0.26489	1.199000	0.43173	0.563000	0.77884	GTG		TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700	
ADAMTS19	171019	hgsc.bcm.edu	37	5	129070664	129070664	+	Missense_Mutation	SNP	A	A	G			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr5:129070664A>G	ENST00000274487.4	+	22	3479	c.3334A>G	c.(3334-3336)Atc>Gtc	p.I1112V	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1112	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I1112F(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTCCCGTGTAATCCAATGCAT	0.378																																																	1	Substitution - Missense(1)	ovary(1)	5											102.0	101.0	101.0					5																	129070664		2203	4300	6503	129098563	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3334A>G	5.37:g.129070664A>G	ENSP00000274487:p.Ile1112Val	Somatic		Capture	Illumina HiSeq	Phase_I	129098563		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.471483	0.43942	.	.	ENSG00000145808	ENST00000274487	T	0.50813	0.73	4.26	3.1	0.35709	.	0.280714	0.28001	N	0.016983	T	0.13200	0.0320	N	0.00170	-1.935	0.41443	D	0.987939	B	0.24651	0.108	B	0.32090	0.14	T	0.10543	-1.0625	9	.	.	.	.	10.1071	0.42539	0.9192:0.0:0.0808:0.0	.	1112	Q8TE59	ATS19_HUMAN	V	1112	ENSP00000274487:I1112V	.	I	+	1	0	ADAMTS19	129098563	0.998000	0.40836	1.000000	0.80357	0.932000	0.56968	2.244000	0.43124	0.978000	0.38470	0.477000	0.44152	ATC		ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
EGR1	1958	hgsc.bcm.edu	37	5	137802688	137802688	+	Missense_Mutation	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr5:137802688G>A	ENST00000239938.4	+	2	822	c.550G>A	c.(550-552)Gcc>Acc	p.A184T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	184					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTCCGCCTCCGCCTCCCAGAG	0.642																																																	0			5											110.0	114.0	112.0					5																	137802688		2203	4300	6503	137830587	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.550G>A	5.37:g.137802688G>A	ENSP00000239938:p.Ala184Thr	Somatic		Capture	Illumina HiSeq	Phase_I	137830587		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568852	0.45798	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.21361	2.01	3.91	2.95	0.34219	.	0.290655	0.33127	N	0.005249	T	0.11281	0.0275	N	0.14661	0.345	0.30296	N	0.789931	B	0.19331	0.035	B	0.17098	0.017	T	0.05468	-1.0883	10	0.48119	T	0.1	-25.2608	8.1917	0.31372	0.0:0.0:0.7614:0.2386	.	184	P18146	EGR1_HUMAN	T	184	ENSP00000239938:A184T	ENSP00000239938:A184T	A	+	1	0	EGR1	137830587	1.000000	0.71417	0.935000	0.37517	0.799000	0.45148	3.749000	0.55150	2.186000	0.69663	0.313000	0.20887	GCC		EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964	
SPDL1	54908	hgsc.bcm.edu	37	5	169025559	169025559	+	Missense_Mutation	SNP	T	T	C			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr5:169025559T>C	ENST00000265295.4	+	9	1391	c.1112T>C	c.(1111-1113)cTt>cCt	p.L371P		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		ACAGATTTACTTCAGATGAAG	0.363																																																	0			5											150.0	156.0	154.0					5																	169025559		2203	4300	6503	168958137	SO:0001583	missense	54908			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1112T>C	5.37:g.169025559T>C	ENSP00000265295:p.Leu371Pro	Somatic		Capture	Illumina HiSeq	Phase_I	168958137		Missense_Mutation	SNP	ENST00000265295.4	37	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384589	0.82792	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.57595	0.39	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.72317	0.3445	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75249	-0.3384	10	0.72032	D	0.01	-11.0546	16.2332	0.82358	0.0:0.0:0.0:1.0	.	293;272;371	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	P	371;272	ENSP00000265295:L371P	ENSP00000265295:L371P	L	+	2	0	CCDC99	168958137	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.656000	0.74396	2.233000	0.73108	0.523000	0.50628	CTT		SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785	
RYR2	6262	hgsc.bcm.edu	37	1	237580424	237580424	+	Splice_Site	SNP	G	G	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr1:237580424G>A	ENST00000366574.2	+	11	1165		c.e11+1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGAGTTGCGTAAGTAGAAC	0.448																																																	1	Unknown(1)	lung(1)	1											111.0	109.0	110.0					1																	237580424		2054	4221	6275	235647047	SO:0001630	splice_region_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.848+1G>A	1.37:g.237580424G>A		Somatic		Capture	Illumina HiSeq	Phase_I	235647047	Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139705	0.94560	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235647047	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.740000	0.98839	2.835000	0.97688	0.650000	0.86243	.		RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron
ATM	472	hgsc.bcm.edu	37	11	108178712	108178712	+	Splice_Site	SNP	G	G	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:108178712G>T	ENST00000452508.2	+	39	5951		c.e39+1		ATM_ENST00000278616.4_Splice_Site			Q13315	ATM_HUMAN	ATM serine/threonine kinase						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)	GACAAAAGAGGTAATGTAATG	0.358			"""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											148.0	136.0	140.0					11																	108178712		2201	4298	6499	107683922	SO:0001630	splice_region_variant	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.5762+1G>T	11.37:g.108178712G>T		Somatic		Capture	Illumina HiSeq	Phase_I	107683922	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859105	0.71834	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3396	0.90300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATM	107683922	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.311000	0.65786	2.854000	0.98071	0.655000	0.94253	.		ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Intron
ZNF717	100131827	hgsc.bcm.edu	37	3	75787042	75787043	+	Frame_Shift_Ins	INS	-	-	AAAT	rs78806516|rs369928577	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:75787042_75787043insAAAT	ENST00000478296.1	-	4	1857_1858	c.1581_1582insATTT	c.(1579-1584)ttcctafs	p.L528fs	ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.L571fs|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.L578fs|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000477374.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						TGTATAGTTAGGAATGACTTAC	0.366																																																	0			3																																								75869733	SO:0001589	frameshift_variant	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.1581_1582insATTT	3.37:g.75787042_75787043insAAAT	ENSP00000419377:p.Leu528fs	Somatic		Capture	Illumina HiSeq	Phase_I	75869732		Frame_Shift_Ins	INS	ENST00000478296.1	37																																																																																					ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
ZNF717	100131827	hgsc.bcm.edu	37	3	75787044	75787045	+	In_Frame_Ins	INS	-	-	CTT	rs373780316		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:75787044_75787045insCTT	ENST00000478296.1	-	4	1855_1856	c.1579_1580insAAG	c.(1579-1581)ttc>tAAGtc	p.527_527F>*V	ZNF717_ENST00000400845.3_In_Frame_Ins_p.570_570F>*V|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_In_Frame_Ins_p.577_577F>*V|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000477374.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	570					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						TATAGTTAGGAATGACTTACAG	0.361																																																	0			3																																								75869735	SO:0001652	inframe_insertion	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.1579_1580insAAG	3.37:g.75787044_75787045insCTT	ENSP00000419377:p.Phe527delins*Val	Somatic		Capture	Illumina HiSeq	Phase_I	75869734		In_Frame_Del	INS	ENST00000478296.1	37																																																																																					ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
MUC4	4585	hgsc.bcm.edu	37	3	195506713	195506760	+	In_Frame_Del	DEL	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	-	rs62282473|rs550221890|rs62282471|rs200597845|rs201121891|rs9882363|rs192522651|rs62282470|rs554841787|rs201914190|rs200055147|rs181895767|rs374267078|rs199635197|rs201530419|rs200381819|rs201961213	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr3:195506713_195506760delGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	ENST00000463781.3	-	2	12150_12197	c.11691_11738delATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGC	c.(11689-11739)gcatccacacgtcacgccacccctcttcctgtcaccgacacttcctcagct>gct	p.3897_3913ASTRHATPLPVTDTSSA>A	MUC4_ENST00000475231.1_In_Frame_Del_p.3897_3913ASTRHATPLPVTDTSSA>A|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A3902V(2)|p.P3904S(2)|p.A3902T(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)		ATCTGTGGAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG	0.593																																																	5	Substitution - Missense(5)	kidney(2)|skin(2)|endometrium(1)	3							,,	327,1561		144,39,761					,,		0.0			8	1397,2107		610,177,965	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	754,216,1726	A1A1,A1R,RR		39.8687,17.3199,31.9733	,,	,,		1724,3668				196991539	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.11691_11738delATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGC	3.37:g.195506713_195506760delGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	ENSP00000417498:p.Ala3897_Ser3912del	Somatic		Capture	Illumina HiSeq	Phase_I	196991492	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	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	Somatic		Capture	Illumina HiSeq	Phase_I	1378594	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
APC	324	hgsc.bcm.edu	37	5	112175752	112175752	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr5:112175752delT	ENST00000457016.1	+	16	4841	c.4461delT	c.(4459-4461)actfs	p.T1487fs	APC_ENST00000257430.4_Frame_Shift_Del_p.T1487fs|APC_ENST00000508376.2_Frame_Shift_Del_p.T1487fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1487	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.T1487fs*17(10)|p.L1488fs*19(7)|p.L1488fs*26(5)|p.L1488fs*18(1)|p.?(1)|p.K1454fs*3(1)|p.T1487fs*25(1)|p.T1487T(1)|p.K1192fs*3(1)|p.T1487fs*23(1)|p.L1488fs*20(1)|p.L1488fs*21(1)|p.L1488fs*23(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGCTGATACTTTATTACATT	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	32	Deletion - Frameshift(21)|Insertion - Frameshift(7)|Complex - frameshift(2)|Unknown(1)|Substitution - coding silent(1)	large_intestine(29)|thyroid(1)|soft_tissue(1)|skin(1)	5											69.0	70.0	70.0					5																	112175752		2202	4300	6502	112203651	SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4461delT	5.37:g.112175752delT	ENSP00000413133:p.Thr1487fs	Somatic		Capture	Illumina HiSeq	Phase_I	112203651	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
VWDE	221806	hgsc.bcm.edu	37	7	12409831	12409832	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr7:12409831_12409832insT	ENST00000275358.3	-	12	2288_2289	c.2100_2101insA	c.(2098-2103)aaacacfs	p.H701fs		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	701						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						AGGTTTATGTGTTTTTTTTCTT	0.317																																																	0			7																																								12376357	SO:0001589	frameshift_variant	221806				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.2101dupA	7.37:g.12409839_12409839dupT	ENSP00000275358:p.His701fs	Somatic		Capture	Illumina HiSeq	Phase_I	12376356	B7ZM77|Q96SQ3	Frame_Shift_Ins	INS	ENST00000275358.3	37	CCDS47544.1																																																																																				VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325870.3	XM_371878	
OR4C13	283092	hgsc.bcm.edu	37	11	49974225	49974242	+	In_Frame_Del	DEL	TCTATGAAAACAAGACTA	TCTATGAAAACAAGACTA	-	rs555352141		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	TCTATGAAAACAAGACTA	TCTATGAAAACAAGACTA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:49974225_49974242delTCTATGAAAACAAGACTA	ENST00000555099.1	+	1	283_300	c.251_268delTCTATGAAAACAAGACTA	c.(250-270)ctctatgaaaacaagactatc>ctc	p.YENKTI85del		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L84L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACAGATTCACTCTATGAAAACAAGACTATCTTATTCAA	0.417																																																	1	Substitution - coding silent(1)	large_intestine(1)	11																																								49930818	SO:0001651	inframe_deletion	283092			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.251_268delTCTATGAAAACAAGACTA	11.37:g.49974225_49974242delTCTATGAAAACAAGACTA	ENSP00000452277:p.Tyr85_Ile90del	Somatic		Capture	Illumina HiSeq	Phase_I	49930801	A6NJJ3|B9EH30|Q6IF48|Q96R68	In_Frame_Del	DEL	ENST00000555099.1	37	CCDS31495.1																																																																																				OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955	
ATM	472	hgsc.bcm.edu	37	11	108196879	108196880	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr11:108196879_108196880insA	ENST00000452508.2	+	48	7091_7092	c.6902_6903insA	c.(6901-6906)gcaaaafs	p.AK2301fs	ATM_ENST00000278616.4_Frame_Shift_Ins_p.AK2301fs|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2301	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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.E2304fs*69(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)	GTATTCTGGGCAAAAAAGGAGC	0.426			"""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	Insertion - Frameshift(1)	central_nervous_system(1)	11																																								107702090	SO:0001589	frameshift_variant	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.6908dupA	11.37:g.108196885_108196885dupA	ENSP00000388058:p.Ala2301fs	Somatic		Capture	Illumina HiSeq	Phase_I	107702089	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Ins	INS	ENST00000452508.2	37	CCDS31669.1																																																																																				ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
KRT4	3851	hgsc.bcm.edu	37	12	53207602	53207603	+	Frame_Shift_Ins	INS	-	-	G	rs7135148|rs71092788		TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr12:53207602_53207603insG	ENST00000551956.1	-	1	732_733	c.240_241insC	c.(238-243)tttggcfs	p.G81fs	KRT4_ENST00000293774.4_Frame_Shift_Ins_p.G155fs|KRT4_ENST00000458244.2_Frame_Shift_Ins_p.G61fs			P19013	K2C4_HUMAN	keratin 4	81	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCACCAGTGCCAAAGCCTCCAG	0.599																																					Pancreas(190;284 2995 41444 45903)												0			12																																								51493870	SO:0001589	frameshift_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240_241insC	12.37:g.53207602_53207603insG	ENSP00000448220:p.Gly81fs	Somatic		Capture	Illumina HiSeq	Phase_I	51493869	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Frame_Shift_Ins	INS	ENST00000551956.1	37	CCDS41787.2																																																																																				KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
KRTAP9-8	83901	hgsc.bcm.edu	37	17	39394711	39394725	+	In_Frame_Del	DEL	GACCACCTGCTGCAG	GACCACCTGCTGCAG	-	rs550091794|rs374427254|rs373648251	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	GACCACCTGCTGCAG	GACCACCTGCTGCAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chr17:39394711_39394725delGACCACCTGCTGCAG	ENST00000254072.6	+	1	415_429	c.408_422delGACCACCTGCTGCAG	c.(406-423)gagaccacctgctgcagg>gag	p.TTCCR137del		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	137	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGAGACCACCTGCTGCAGGACCACTTGC	0.591																																																	0			17																																								36648251	SO:0001651	inframe_deletion	83901			AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.408_422delGACCACCTGCTGCAG	17.37:g.39394711_39394725delGACCACCTGCTGCAG	ENSP00000254072:p.Thr137_Arg141del	Somatic		Capture	Illumina HiSeq	Phase_I	36648237		In_Frame_Del	DEL	ENST00000254072.6	37	CCDS42334.1																																																																																				KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1		
MAGEC1	9947	hgsc.bcm.edu	37	X	140993904	140993906	+	In_Frame_Del	DEL	CCC	CCC	-	rs146816736|rs176040	byFrequency	TCGA-G5-6641-01A-11D-1826-10	TCGA-G5-6641-10A-01D-1826-10	CCC	CCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	1876b42e-efaa-4075-99fe-1ea84d258394	4bbe8e9b-8a4f-42c8-974b-720cc2e9e7a2	g.chrX:140993904_140993906delCCC	ENST00000285879.4	+	4	1000_1002	c.714_716delCCC	c.(712-717)agcccc>agc	p.P239del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	239				P -> S (in Ref. 1 and 2). {ECO:0000305}.				p.P239S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCCCCTCCTCCTCC	0.478										HNSCC(15;0.026)																																							2	Substitution - Missense(2)	stomach(2)	X																																								140821572	SO:0001651	inframe_deletion	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.714_716delCCC	X.37:g.140993904_140993906delCCC	ENSP00000285879:p.Pro239del	Somatic		Capture	Illumina HiSeq	Phase_I	140821570	A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	CCDS35417.1																																																																																				MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
