#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
HDAC9	9734	hgsc.bcm.edu	37	7	18767220	18767220	+	Silent	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr7:18767220G>A	ENST00000432645.2	+	12	1740	c.1740G>A	c.(1738-1740)acG>acA	p.T580T	HDAC9_ENST00000401921.1_Silent_p.T539T|HDAC9_ENST00000406451.4_Silent_p.T580T|HDAC9_ENST00000441542.2_Silent_p.T583T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	580					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGAACCCACGCACACACGTG	0.527																																																	0			7											32.0	36.0	34.0					7																	18767220		2021	4169	6190	18733745	SO:0001819	synonymous_variant	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1740G>A	7.37:g.18767220G>A			18733745	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	CCDS47555.1																																																																																				0.527	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
ADCY1	107	hgsc.bcm.edu	37	7	45697411	45697411	+	Missense_Mutation	SNP	C	C	T	rs536487311		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr7:45697411C>T	ENST00000297323.7	+	6	1256	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	ADCY1_ENST00000432715.1_Missense_Mutation_p.R187C	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	412					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTGGGCTTGCGCAAGTGGCA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18206	0.0		0.0	False		,,,				2504	0.001																0			7											125.0	92.0	103.0					7																	45697411		2203	4300	6503	45663936	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1234C>T	7.37:g.45697411C>T	ENSP00000297323:p.Arg412Cys		45663936	A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023242	0.75275	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.82433	-1.61;-1.61	4.44	4.44	0.53790	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.87450	0.6180	M	0.79693	2.465	0.80722	D	1	D;D	0.62365	0.991;0.99	P;P	0.51895	0.48;0.683	D	0.88579	0.3135	10	0.49607	T	0.09	.	14.9371	0.70964	0.0:1.0:0.0:0.0	.	412;187	Q08828;C9J1J0	ADCY1_HUMAN;.	C	187;412;412	ENSP00000392721:R187C;ENSP00000297323:R412C	ENSP00000297323:R412C	R	+	1	0	ADCY1	45663936	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.352000	0.59404	2.446000	0.82766	0.655000	0.94253	CGC		0.612	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
CROT	54677	hgsc.bcm.edu	37	7	86998764	86998764	+	Missense_Mutation	SNP	A	A	G	rs138577783		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr7:86998764A>G	ENST00000331536.3	+	7	805	c.620A>G	c.(619-621)cAt>cGt	p.H207R	CROT_ENST00000419147.2_Missense_Mutation_p.H235R|CROT_ENST00000442291.1_Missense_Mutation_p.H207R	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	207					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.H207R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GATGTAATACATGAAGGATGT	0.423													A|||	1	0.000199681	0.0	0.0014	5008	,	,		13514	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)	7						A	ARG/HIS,ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	210.0	196.0	200.0		704,620	2.7	0.8	7	dbSNP_134	200	13,8587	9.1+/-34.3	0,13,4287	yes	missense,missense	CROT	NM_001143935.1,NM_021151.3	29,29	0,14,6489	GG,GA,AA		0.1512,0.0227,0.1076	benign,benign	235/641,207/613	86998764	14,12992	2203	4300	6503	86836700	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.620A>G	7.37:g.86998764A>G	ENSP00000331981:p.His207Arg		86836700	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	10.38	1.334571	0.24253	2.27E-4	0.001512	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89343	-2.5;-2.5;-2.5	5.1	2.7	0.31948	.	0.482216	0.26492	N	0.024063	T	0.77611	0.4156	N	0.24115	0.695	0.37103	D	0.89999	B;B	0.28636	0.195;0.218	B;B	0.34242	0.178;0.04	T	0.65162	-0.6235	10	0.14252	T	0.57	-4.784	3.3824	0.07259	0.6479:0.1427:0.0729:0.1365	.	235;207	E7EQF2;Q9UKG9	.;OCTC_HUMAN	R	235;207;207	ENSP00000413575:H235R;ENSP00000331981:H207R;ENSP00000411983:H207R	ENSP00000331981:H207R	H	+	2	0	CROT	86836700	0.685000	0.27652	0.756000	0.31282	0.973000	0.67179	1.717000	0.37991	0.485000	0.27652	0.477000	0.44152	CAT		0.423	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
GPR37	2861	hgsc.bcm.edu	37	7	124387106	124387106	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr7:124387106C>T	ENST00000303921.2	-	2	1965	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	439					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCGCACTGTCGTAGGTGAGG	0.493																																																	0			7											161.0	137.0	145.0					7																	124387106		2203	4300	6503	124174342	SO:0001583	missense	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1315G>A	7.37:g.124387106C>T	ENSP00000306449:p.Asp439Asn		124174342	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870808	0.51695	.	.	ENSG00000170775	ENST00000303921	T	0.34275	1.37	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.23249	0.0562	N	0.08118	0	0.43453	D	0.995647	P	0.36483	0.555	B	0.34452	0.183	T	0.08066	-1.0740	10	0.41790	T	0.15	-31.8891	18.8936	0.92414	0.0:1.0:0.0:0.0	.	439	O15354	GPR37_HUMAN	N	439	ENSP00000306449:D439N	ENSP00000306449:D439N	D	-	1	0	GPR37	124174342	0.998000	0.40836	0.985000	0.45067	0.898000	0.52572	3.808000	0.55598	2.698000	0.92095	0.655000	0.94253	GAC		0.493	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
CCDC136	64753	hgsc.bcm.edu	37	7	128452972	128452972	+	Missense_Mutation	SNP	G	G	A	rs540834725		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr7:128452972G>A	ENST00000297788.4	+	14	3119	c.2752G>A	c.(2752-2754)Gac>Aac	p.D918N	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	918						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CCCCCAGAACGACAAGAATGA	0.547																																																	0			7											34.0	36.0	35.0					7																	128452972		1924	4141	6065	128240208	SO:0001583	missense	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2752G>A	7.37:g.128452972G>A	ENSP00000297788:p.Asp918Asn		128240208	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343438	0.82022	.	.	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	T	0.36520	1.25	5.56	4.46	0.54185	.	0.274240	0.32134	N	0.006536	T	0.45115	0.1326	M	0.66939	2.045	0.25588	N	0.986721	D;P;D	0.67145	0.978;0.939;0.996	P;B;P	0.57911	0.525;0.272;0.829	T	0.34354	-0.9832	10	0.18710	T	0.47	-25.2123	7.2286	0.26030	0.1424:0.0:0.8576:0.0	.	918;918;918	Q96JN2-4;Q96JN2-2;Q96JN2	.;.;CC136_HUMAN	N	918;918;918;509	ENSP00000297788:D918N	ENSP00000297788:D918N	D	+	1	0	CCDC136	128240208	0.998000	0.40836	0.917000	0.36280	0.145000	0.21501	2.716000	0.47219	2.774000	0.95407	0.655000	0.94253	GAC		0.547	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
PRSS1	5644	hgsc.bcm.edu	37	7	142459866	142459866	+	Missense_Mutation	SNP	G	G	T	rs386718744		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr7:142459866G>T	ENST00000311737.7	+	3	448	c.442G>T	c.(442-444)Gcg>Tcg	p.A148S	PRSS1_ENST00000486171.1_Missense_Mutation_p.A162S	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	148	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.A148T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GGGCAACACTGCGAGCTCTGG	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)	7											67.0	69.0	68.0					7																	142459866		2203	4300	6503	142139440	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.442G>T	7.37:g.142459866G>T	ENSP00000308720:p.Ala148Ser		142139440	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.187950	0.01607	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.88509	-2.39;-2.39;-2.39	3.28	-0.219	0.13135	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.368349	0.27971	N	0.017113	T	0.63943	0.2554	N	0.01705	-0.755	0.20196	N	0.99992	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.56872	-0.7907	10	0.08381	T	0.77	.	5.0834	0.14668	0.0:0.4638:0.3285:0.2077	.	162;148	E7EQ64;P07477	.;TRY1_HUMAN	S	162;148;138;98	ENSP00000417854:A162S;ENSP00000308720:A148S;ENSP00000419912:A98S	ENSP00000308720:A148S	A	+	1	0	PRSS1	142139440	0.002000	0.14202	0.963000	0.40424	0.006000	0.05464	-0.136000	0.10405	0.172000	0.19760	-0.669000	0.03829	GCG		0.577	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
PDYN	5173	hgsc.bcm.edu	37	20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T	rs377075531		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTATTTGCGCAAAAAGCC	0.602																																																	0			20											99.0	103.0	102.0					20																	1961195		2203	4300	6503	1909195	SO:0001583	missense	5173				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.539G>A	20.37:g.1961195C>T	ENSP00000217305:p.Arg180His		1909195	A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772531	0.90108	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:1.0:0.0:0.0	.	180	P01213	PDYN_HUMAN	H	180	ENSP00000440185:R180H;ENSP00000442259:R180H;ENSP00000217305:R180H	ENSP00000217305:R180H	R	-	2	0	PDYN	1909195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.652000	0.61454	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2		
LRRN4	164312	hgsc.bcm.edu	37	20	6022340	6022340	+	Silent	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr20:6022340G>A	ENST00000378858.4	-	5	1775	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	517					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTGGAATCTCGCCCTCGGAAA	0.632																																																	0			20											104.0	114.0	110.0					20																	6022340		2203	4300	6503	5970340	SO:0001819	synonymous_variant	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1551C>T	20.37:g.6022340G>A			5970340	A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	CCDS13097.1																																																																																				0.632	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611	
MROH8	140699	hgsc.bcm.edu	37	20	35743618	35743618	+	Silent	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr20:35743618G>A	ENST00000400441.3	-	19	2492	c.2493C>T	c.(2491-2493)acC>acT	p.T831T	MROH8_ENST00000441008.2_Silent_p.T817T|MROH8_ENST00000217333.8_Silent_p.T660T			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	TGGCAGCCAGGGTAGTGAAAT	0.463																																																	0			20											145.0	142.0	143.0					20																	35743618		2009	4179	6188	35177032	SO:0001819	synonymous_variant	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2493C>T	20.37:g.35743618G>A			35177032	Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.444|9.444	1.088836|1.088836	0.20390|0.20390	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000417458	.|.	.|.	.|.	5.27|5.27	0.0309|0.0309	0.14168|0.14168	.|.	.|.	.|.	.|.	.|.	T|T	0.42854|0.42854	0.1221|0.1221	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.25606|0.25606	-1.0127|-1.0127	4|4	.|.	.|.	.|.	-19.0908|-19.0908	2.6134|2.6134	0.04897|0.04897	0.0968:0.2998:0.3788:0.2246|0.0968:0.2998:0.3788:0.2246	.|.	.|.	.|.	.|.	L|S	858|459	.|.	.|.	P|P	-|-	2|1	0|0	C20orf132|C20orf132	35177032|35177032	0.198000|0.198000	0.23374|0.23374	0.992000|0.992000	0.48379|0.48379	0.991000|0.991000	0.79684|0.79684	0.039000|0.039000	0.13884|0.13884	0.250000|0.250000	0.21479|0.21479	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.463	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
ZNF334	55713	hgsc.bcm.edu	37	20	45130350	45130350	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr20:45130350G>T	ENST00000347606.4	-	5	1810	c.1628C>A	c.(1627-1629)cCa>cAa	p.P543Q	ZNF334_ENST00000457685.2_Missense_Mutation_p.P505Q|ZNF334_ENST00000593880.1_Missense_Mutation_p.P566Q	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCATTCATATGGTCTCTCCCA	0.443																																																	0			20											185.0	175.0	178.0					20																	45130350		2203	4300	6503	44563757	SO:0001583	missense	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1628C>A	20.37:g.45130350G>T	ENSP00000255129:p.Pro543Gln		44563757	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400385	0.42613	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.51817	0.69;0.69	3.23	2.27	0.28462	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57021	0.2025	M	0.84511	2.7	0.23030	N	0.998402	D;D;D	0.57257	0.979;0.979;0.979	P;P;P	0.48901	0.594;0.594;0.594	T	0.51980	-0.8636	9	0.87932	D	0	.	8.296	0.31986	0.1225:0.0:0.8775:0.0	.	505;543;566	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	Q	505;543	ENSP00000402582:P505Q;ENSP00000255129:P543Q	ENSP00000255129:P543Q	P	-	2	0	ZNF334	44563757	1.000000	0.71417	0.009000	0.14445	0.620000	0.37586	4.862000	0.62976	0.690000	0.31570	-0.229000	0.12294	CCA		0.443	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1		
SULF2	55959	hgsc.bcm.edu	37	20	46294671	46294671	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr20:46294671A>G	ENST00000359930.4	-	13	2683	c.1832T>C	c.(1831-1833)gTc>gCc	p.V611A	SULF2_ENST00000467815.1_Missense_Mutation_p.V611A|SULF2_ENST00000484875.1_Missense_Mutation_p.V611A|SULF2_ENST00000361612.4_Missense_Mutation_p.V611A	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	611					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTCACACTGGACTGTGTCGTT	0.602																																																	0			20											221.0	185.0	197.0					20																	46294671		2203	4300	6503	45728078	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1832T>C	20.37:g.46294671A>G	ENSP00000353007:p.Val611Ala		45728078	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548957	0.65311	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	D;D;D;D	0.99519	-6.07;-6.07;-6.06;-6.07	5.24	5.24	0.73138	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	M	0.74647	2.275	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.98705	1.0702	10	0.87932	D	0	-25.3396	15.1399	0.72601	1.0:0.0:0.0:0.0	.	611;611	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	A	611;611;611;30;611	ENSP00000353007:V611A;ENSP00000418290:V611A;ENSP00000354662:V611A;ENSP00000418442:V611A	ENSP00000353007:V611A	V	-	2	0	SULF2	45728078	1.000000	0.71417	0.994000	0.49952	0.104000	0.19210	9.339000	0.96797	1.979000	0.57680	0.378000	0.23410	GTC		0.602	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
FAM217B	63939	hgsc.bcm.edu	37	20	58519845	58519845	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr20:58519845A>G	ENST00000358293.3	+	5	1262	c.847A>G	c.(847-849)Agg>Ggg	p.R283G	FAM217B_ENST00000360816.3_Missense_Mutation_p.R283G|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	283								p.R283W(1)									TTGTTCTCAGAGGCAAACCCT	0.453																																																	1	Substitution - Missense(1)	ovary(1)	20											63.0	64.0	63.0					20																	58519845		2203	4300	6503	57953240	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.847A>G	20.37:g.58519845A>G	ENSP00000351040:p.Arg283Gly		57953240	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661572	0.29515	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.26957	1.7;1.7	5.44	2.0	0.26442	.	0.517494	0.17639	N	0.167085	T	0.12987	0.0315	N	0.14661	0.345	0.20196	N	0.999929	B	0.26547	0.152	B	0.21708	0.036	T	0.18524	-1.0334	10	0.72032	D	0.01	-10.4411	5.5494	0.17081	0.648:0.1353:0.2167:0.0	.	283	Q9NTX9	CT177_HUMAN	G	283	ENSP00000351040:R283G;ENSP00000354056:R283G	ENSP00000351040:R283G	R	+	1	2	C20orf177	57953240	0.985000	0.35326	0.194000	0.23346	0.391000	0.30476	1.215000	0.32431	0.368000	0.24481	0.533000	0.62120	AGG		0.453	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
ADAM20	8748	hgsc.bcm.edu	37	14	70989383	70989383	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr14:70989383A>G	ENST00000256389.3	-	2	2486	c.2242T>C	c.(2242-2244)Tgc>Cgc	p.C748R	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	698					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GGAAGAAGGCACAATAGTGAC	0.393																																																	0			14											225.0	188.0	201.0					14																	70989383		2203	4300	6503	70059136	SO:0001583	missense	8748			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2242T>C	14.37:g.70989383A>G	ENSP00000256389:p.Cys748Arg		70059136	Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	A	8.748	0.920573	0.17982	.	.	ENSG00000134007	ENST00000256389	T	0.00912	5.55	3.66	3.66	0.41972	.	3.514400	0.01092	U	0.005201	T	0.00815	0.0027	N	0.19112	0.55	0.09310	N	0.999994	P	0.36144	0.539	B	0.22880	0.042	T	0.44267	-0.9339	10	0.23891	T	0.37	.	6.584	0.22610	0.7863:0.0:0.0:0.2137	.	698	O43506	ADA20_HUMAN	R	748	ENSP00000256389:C748R	ENSP00000256389:C748R	C	-	1	0	ADAM20	70059136	0.014000	0.17966	0.032000	0.17829	0.066000	0.16364	1.280000	0.33202	1.441000	0.47550	0.477000	0.44152	TGC		0.393	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2		
FLRT2	23768	hgsc.bcm.edu	37	14	86089507	86089507	+	Missense_Mutation	SNP	C	C	T	rs201981148		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr14:86089507C>T	ENST00000330753.4	+	2	2416	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V	FLRT2_ENST00000554746.1_Missense_Mutation_p.A550V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	550					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATCGGGGGCGCGGTGATATTT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		15501	0.001		0.0	False		,,,				2504	0.0																0			14											76.0	80.0	79.0					14																	86089507		2203	4300	6503	85159260	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1649C>T	14.37:g.86089507C>T	ENSP00000332879:p.Ala550Val		85159260	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.5	4.002391	0.74932	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.60040	0.22;0.22	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.65015	0.2651	M	0.64404	1.975	0.80722	D	1	D	0.67145	0.996	P	0.50352	0.638	T	0.65800	-0.6080	10	0.37606	T	0.19	-16.4932	17.5067	0.87748	0.0:0.8761:0.1239:0.0	.	550	O43155	FLRT2_HUMAN	V	550;550;203	ENSP00000332879:A550V;ENSP00000451050:A550V	ENSP00000332879:A550V	A	+	2	0	FLRT2	85159260	1.000000	0.71417	0.110000	0.21437	0.885000	0.51271	7.817000	0.86213	1.578000	0.49821	0.655000	0.94253	GCG		0.587	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
SMEK1	55671	hgsc.bcm.edu	37	14	91947948	91947948	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr14:91947948T>C	ENST00000554943.1	-	4	1002	c.887A>G	c.(886-888)aAt>aGt	p.N296S	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Missense_Mutation_p.N296S|SMEK1_ENST00000554684.1_Missense_Mutation_p.N296S|SMEK1_ENST00000428424.2_Intron			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	296					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CTCTACCTTATTGAAAAAGAT	0.338																																																	0			14											69.0	63.0	65.0					14																	91947948		2203	4300	6503	91017701	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.887A>G	14.37:g.91947948T>C	ENSP00000450883:p.Asn296Ser		91017701	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		.	.	.	.	.	.	.	.	.	.	T	22.7	4.323828	0.81580	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000554943;ENST00000554390;ENST00000417249	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.87	5.87	0.94306	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	M	0.89353	3.025	0.80722	D	1	D;P;P	0.71674	0.998;0.933;0.918	D;P;P	0.80764	0.994;0.812;0.714	T	0.69522	-0.5123	10	0.59425	D	0.04	-22.5612	16.2806	0.82678	0.0:0.0:0.0:1.0	.	296;296;296	G3V5Z3;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	S	296;296;296;296;86	ENSP00000450864:N296S;ENSP00000337125:N296S;ENSP00000450883:N296S;ENSP00000452596:N296S	ENSP00000337125:N296S	N	-	2	0	SMEK1	91017701	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.953000	0.87836	2.248000	0.74166	0.533000	0.62120	AAT		0.338	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560	
TMEM179	388021	hgsc.bcm.edu	37	14	105070791	105070791	+	Silent	SNP	G	G	T	rs3803313	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr14:105070791G>T	ENST00000556573.1	-	1	529	c.288C>A	c.(286-288)ctC>ctA	p.L96L	TMEM179_ENST00000341595.3_Silent_p.L96L			Q6ZVK1	T179A_HUMAN	transmembrane protein 179	96						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		GTCCCTTGCAGAGGAAGAAGA	0.756													G|||	3054	0.609824	0.6884	0.5303	5008	,	,		10526	0.3661		0.7664	False		,,,				2504	0.6503																0			14						G		2828,1184		1007,814,185	4.0	6.0	6.0		288	1.8	1.0	14	dbSNP_107	6	6311,1779		2483,1345,217	no	coding-synonymous	TMEM179	NM_207379.1		3490,2159,402	TT,TG,GG		21.9901,29.5115,24.4836		96/198	105070791	9139,2963	2006	4045	6051	104141836	SO:0001819	synonymous_variant	388021			AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986			20137	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 90"""	C14orf90			Standard	NM_001286390		Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000556573.1:c.288C>A	14.37:g.105070791G>T			104141836		Silent	SNP	ENST00000556573.1	37																																																																																					0.756	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410585.1	NM_207379	
WDR88	126248	hgsc.bcm.edu	37	19	33651349	33651349	+	Missense_Mutation	SNP	A	A	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr19:33651349A>T	ENST00000355868.3	+	8	1103	c.1027A>T	c.(1027-1029)Agg>Tgg	p.R343W	WDR88_ENST00000361680.2_Missense_Mutation_p.R343W	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	343										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AGGGTTTGATAGGACTGTGGC	0.498																																																	0			19											215.0	197.0	203.0					19																	33651349		2203	4300	6503	38343189	SO:0001583	missense	126248			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1027A>T	19.37:g.33651349A>T	ENSP00000348129:p.Arg343Trp		38343189	Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700068	0.68501	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.42513	0.97;0.97	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	1.024610	0.07756	N	0.949352	T	0.68183	0.2973	M	0.85462	2.755	0.30250	N	0.794181	D	0.63880	0.993	P	0.59424	0.857	T	0.63571	-0.6607	10	0.87932	D	0	.	14.7734	0.69696	1.0:0.0:0.0:0.0	.	343	Q6ZMY6	WDR88_HUMAN	W	343	ENSP00000348129:R343W;ENSP00000355148:R343W	ENSP00000348129:R343W	R	+	1	2	WDR88	38343189	1.000000	0.71417	0.815000	0.32552	0.478000	0.33099	5.662000	0.68032	2.232000	0.73038	0.529000	0.55759	AGG		0.498	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479	
CEACAM5	1048	hgsc.bcm.edu	37	19	42224098	42224098	+	Missense_Mutation	SNP	G	G	A	rs146319665	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr19:42224098G>A	ENST00000221992.6	+	7	1856	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	CEACAM5_ENST00000398599.4_Missense_Mutation_p.R580H|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R581H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	581	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGTGCAAACCGCAGTGACCCA	0.517																																																	0			19						A	HIS/ARG	0,4406		0,0,2203	198.0	181.0	187.0		1742	-4.9	0.0	19	dbSNP_134	187	7,8593	818.9+/-406.8	0,7,4293	yes	missense	CEACAM5	NM_004363.2	29	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign	581/703	42224098	7,12999	2203	4300	6503	46915938	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1742G>A	19.37:g.42224098G>A	ENSP00000221992:p.Arg581His		46915938	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	A	1.548	-0.539874	0.04053	0.0	8.14E-4	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.00760	5.73;5.73	2.46	-4.91	0.03085	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00906	0.0030	L	0.58583	1.82	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.37197	-0.9716	9	0.40728	T	0.16	.	5.2767	0.15653	0.5201:0.0:0.2544:0.2255	.	581;581	P06731;Q53G30	CEAM5_HUMAN;.	H	581;581;299	ENSP00000221992:R581H;ENSP00000385072:R581H	ENSP00000221992:R581H	R	+	2	0	CEACAM5	46915938	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.730000	0.00381	-3.868000	0.00097	-2.407000	0.00222	CGC		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363	
LIPE	3991	hgsc.bcm.edu	37	19	42910417	42910417	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr19:42910417G>A	ENST00000244289.4	-	7	2537	c.2261C>T	c.(2260-2262)cCg>cTg	p.P754L	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	754					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CATTGTGGCCGGGTAGGCTGC	0.662																																																	0			19											48.0	46.0	46.0					19																	42910417		2203	4300	6503	47602257	SO:0001583	missense	3991			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2261C>T	19.37:g.42910417G>A	ENSP00000244289:p.Pro754Leu		47602257	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731357	0.89390	.	.	ENSG00000079435	ENST00000244289	T	0.44881	0.91	5.09	5.09	0.68999	Alpha/beta hydrolase fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86939	0.2078	10	0.42905	T	0.14	-33.719	17.6625	0.88196	0.0:0.0:1.0:0.0	.	754	Q05469	LIPS_HUMAN	L	754	ENSP00000244289:P754L	ENSP00000244289:P754L	P	-	2	0	LIPE	47602257	1.000000	0.71417	0.957000	0.39632	0.838000	0.47535	6.684000	0.74538	2.531000	0.85337	0.645000	0.84053	CCG		0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357	
ZFP28	140612	hgsc.bcm.edu	37	19	57059202	57059202	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr19:57059202A>G	ENST00000301318.3	+	4	525	c.454A>G	c.(454-456)Atc>Gtc	p.I152V	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.I152V	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	152	KRAB 1. {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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GCCCGATGTGATCTCCTCGTT	0.517																																					Ovarian(124;554 1662 19430 21141 52494)												0			19											208.0	192.0	198.0					19																	57059202		2203	4300	6503	61751014	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.454A>G	19.37:g.57059202A>G	ENSP00000301318:p.Ile152Val		61751014	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.512421	0.27123	.	.	ENSG00000196867	ENST00000301318	T	0.00848	5.62	4.01	1.91	0.25777	Krueppel-associated box (3);	0.000000	0.40064	N	0.001188	T	0.02929	0.0087	M	0.64567	1.98	0.09310	N	0.999995	B;D	0.67145	0.188;0.996	B;D	0.81914	0.1;0.995	T	0.34700	-0.9818	10	0.51188	T	0.08	.	5.1176	0.14843	0.7575:0.0:0.2425:0.0	.	152;152	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	V	152	ENSP00000301318:I152V	ENSP00000301318:I152V	I	+	1	0	ZFP28	61751014	1.000000	0.71417	0.336000	0.25522	0.886000	0.51366	3.109000	0.50345	0.699000	0.31761	0.460000	0.39030	ATC		0.517	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
ZFHX4	79776	hgsc.bcm.edu	37	8	77766282	77766282	+	Silent	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr8:77766282C>T	ENST00000521891.2	+	10	7573	c.7125C>T	c.(7123-7125)aaC>aaT	p.N2375N	ZFHX4_ENST00000050961.6_Silent_p.N2330N|ZFHX4_ENST00000518282.1_Silent_p.N2349N|ZFHX4_ENST00000455469.2_Silent_p.N2330N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2330	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.N2359K(1)|p.N2359N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTAAAAACGCTGCTGCCC	0.507										HNSCC(33;0.089)																																							2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	8											111.0	110.0	110.0					8																	77766282		2001	4168	6169	77928837	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7125C>T	8.37:g.77766282C>T			77928837	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
RSPO2	340419	hgsc.bcm.edu	37	8	108970344	108970344	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr8:108970344T>C	ENST00000276659.5	-	5	1200	c.580A>G	c.(580-582)Agg>Ggg	p.R194G	RSPO2_ENST00000517781.1_Missense_Mutation_p.R130G|RSPO2_ENST00000517939.1_Missense_Mutation_p.R127G|RSPO2_ENST00000378439.2_Missense_Mutation_p.R130G	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	194	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TTGCATCTCCTGGATTCAGCA	0.453																																																	0			8											359.0	296.0	317.0					8																	108970344		2203	4300	6503	109039520	SO:0001583	missense	340419			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.580A>G	8.37:g.108970344T>C	ENSP00000276659:p.Arg194Gly		109039520	B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827365	0.71143	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	5.6	1.65	0.23941	.	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	M	0.71206	2.165	0.52099	D	0.99994	D;D	0.61080	0.989;0.978	D;P	0.75020	0.985;0.806	D	0.86599	0.1865	10	0.62326	D	0.03	0.8103	13.434	0.61073	0.0:0.0:0.3712:0.6288	.	194;130	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	G	127;130;130;194;127	ENSP00000428940:R127G;ENSP00000427937:R130G;ENSP00000367698:R130G;ENSP00000276659:R194G;ENSP00000428614:R127G	ENSP00000276659:R194G	R	-	1	2	RSPO2	109039520	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.961000	0.56759	0.094000	0.17404	-0.461000	0.05368	AGG		0.453	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565	
CSMD3	114788	hgsc.bcm.edu	37	8	113316983	113316983	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr8:113316983A>G	ENST00000297405.5	-	52	8477	c.8233T>C	c.(8233-8235)Tgg>Cgg	p.W2745R	CSMD3_ENST00000343508.3_Missense_Mutation_p.W2705R|CSMD3_ENST00000352409.3_Missense_Mutation_p.W2675R|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2745	Sushi 16. {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						CTCCAACTCCAAGTACCATTA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0			8											135.0	120.0	125.0					8																	113316983		2203	4300	6503	113386159	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.8233T>C	8.37:g.113316983A>G	ENSP00000297405:p.Trp2745Arg		113386159	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.540442	0.65085	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.04	5.04	0.67666	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000005	D	0.97511	0.9185	H	0.97315	3.98	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.981	D	0.98799	1.0739	10	0.66056	D	0.02	.	15.0749	0.72069	1.0:0.0:0.0:0.0	.	2745;2705	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	R	2705;2745;2015;2675	ENSP00000345799:W2705R;ENSP00000297405:W2745R;ENSP00000341558:W2015R;ENSP00000343124:W2675R	ENSP00000297405:W2745R	W	-	1	0	CSMD3	113386159	1.000000	0.71417	0.992000	0.48379	0.533000	0.34776	9.251000	0.95483	1.988000	0.58038	0.533000	0.62120	TGG		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
SLC30A8	169026	hgsc.bcm.edu	37	8	118170071	118170071	+	Missense_Mutation	SNP	C	C	A	rs141202988		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr8:118170071C>A	ENST00000456015.2	+	4	560	c.560C>A	c.(559-561)gCg>gAg	p.A187E	SLC30A8_ENST00000427715.2_Missense_Mutation_p.A138E|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A138E|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A138E	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	187					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.A187V(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCGCAGTGGCGGCCAACATT	0.517																																					Ovarian(162;1202 1922 6011 16223 52092)												1	Substitution - Missense(1)	ovary(1)	8											179.0	149.0	159.0					8																	118170071		2203	4300	6503	118239252	SO:0001583	missense	169026				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.560C>A	8.37:g.118170071C>A	ENSP00000415011:p.Ala187Glu		118239252	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732730	0.48939	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.76	2.11	0.27256	.	0.832250	0.11028	N	0.607612	T	0.73110	0.3545	M	0.86268	2.805	0.26454	N	0.975561	P	0.46656	0.882	P	0.54889	0.763	T	0.61691	-0.7011	10	0.66056	D	0.02	0.941	4.8273	0.13423	0.0:0.2227:0.135:0.6423	.	187	Q8IWU4	ZNT8_HUMAN	E	138;138;138;187	ENSP00000428545:A138E;ENSP00000407505:A138E;ENSP00000431069:A138E;ENSP00000415011:A187E	ENSP00000407505:A138E	A	+	2	0	SLC30A8	118239252	0.389000	0.25205	0.993000	0.49108	0.213000	0.24496	1.004000	0.29822	0.101000	0.17610	0.650000	0.86243	GCG		0.517	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
TIGD5	84948	hgsc.bcm.edu	37	8	144681282	144681282	+	Missense_Mutation	SNP	C	C	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr8:144681282C>G	ENST00000504548.2	+	1	1209	c.1209C>G	c.(1207-1209)ttC>ttG	p.F403L	EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000442189.2_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.F354L	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	403						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGTGCTGTTCCTGTCCAAAG	0.701																																																	0			8											11.0	12.0	12.0					8																	144681282		2162	4279	6441	144752425	SO:0001583	missense	84948			AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1209C>G	8.37:g.144681282C>G	ENSP00000421489:p.Phe403Leu		144752425	E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069821	0.55539	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.46819	0.86;0.89	4.75	2.56	0.30785	.	0.000000	0.64402	U	0.000015	T	0.46946	0.1419	M	0.65975	2.015	0.25703	N	0.985564	B	0.27700	0.186	B	0.35470	0.203	T	0.48055	-0.9068	10	0.54805	T	0.06	.	8.8793	0.35365	0.0:0.7232:0.0:0.2768	.	354	Q53EQ6	TIGD5_HUMAN	L	403;354	ENSP00000421489:F403L;ENSP00000315906:F354L	ENSP00000315906:F354L	F	+	3	2	TIGD5	144752425	0.997000	0.39634	0.927000	0.36925	0.590000	0.36582	0.472000	0.22116	0.988000	0.38734	0.655000	0.94253	TTC		0.701	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862	
ZNF7	7553	hgsc.bcm.edu	37	8	146068363	146068363	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr8:146068363G>A	ENST00000528372.1	+	5	2111	c.1871G>A	c.(1870-1872)cGt>cAt	p.R624H	ZNF7_ENST00000325241.6_Missense_Mutation_p.R624H|ZNF7_ENST00000446747.2_Missense_Mutation_p.R635H|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.R528H			P17097	ZNF7_HUMAN	zinc finger protein 7	624					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TTTGTGAGCCGTAAAAAGGTT	0.433																																																	0			8											63.0	67.0	65.0					8																	146068363		2203	4300	6503	146039167	SO:0001583	missense	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1871G>A	8.37:g.146068363G>A	ENSP00000432724:p.Arg624His		146039167	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	5.504	0.277924	0.10403	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.07216	3.33;3.33;3.21;3.33	4.9	1.85	0.25348	.	0.157726	0.30446	N	0.009602	T	0.03305	0.0096	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.04013	0.001;0.001	T	0.45659	-0.9246	9	.	.	.	-19.2372	5.5522	0.17097	0.5113:0.0:0.4887:0.0	.	635;624	B4DT08;P17097	.;ZNF7_HUMAN	H	624;635;528;624	ENSP00000320627:R624H;ENSP00000393260:R635H;ENSP00000439424:R528H;ENSP00000432724:R624H	.	R	+	2	0	ZNF7	146039167	0.573000	0.26676	0.035000	0.18076	0.767000	0.43475	0.000000	0.12993	0.643000	0.30638	0.655000	0.94253	CGT		0.433	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416	
OR4F5	79501	hgsc.bcm.edu	37	1	69540	69540	+	Silent	SNP	G	G	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:69540G>T	ENST00000335137.3	+	1	450	c.450G>T	c.(448-450)gtG>gtT	p.V150V		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCATTCGGTGAGCCAGTTGG	0.473																																																	0			1											164.0	96.0	121.0					1																	69540		1766	3010	4776	59403	SO:0001819	synonymous_variant	79501			AB065592	CCDS30547.1	1p36.33	2012-08-09			ENSG00000186092	ENSG00000186092		"""GPCR / Class A : Olfactory receptors"""	14825	protein-coding gene	gene with protein product							Standard	NM_001005484		Approved		uc001aal.1	Q8NH21	OTTHUMG00000001094	ENST00000335137.3:c.450G>T	1.37:g.69540G>T			59403	Q5VT22	Silent	SNP	ENST00000335137.3	37	CCDS30547.1																																																																																				0.473	OR4F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003223.1	NM_001005484	
EXOSC10	5394	hgsc.bcm.edu	37	1	11139840	11139840	+	Silent	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:11139840C>T	ENST00000376936.4	-	14	1726	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	EXOSC10_ENST00000485606.1_5'Flank|EXOSC10_ENST00000304457.7_Silent_p.P559P|EXOSC10_ENST00000544779.1_Silent_p.P559P	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	559	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCACAAGGGGCGGTACTGGGT	0.532																																					Colon(179;105 1987 14326 27364 29542)												0			1											88.0	69.0	76.0					1																	11139840		2203	4300	6503	11062427	SO:0001819	synonymous_variant	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1677G>A	1.37:g.11139840C>T			11062427	B1AKQ0|B1AKQ1|Q15158	Silent	SNP	ENST00000376936.4	37	CCDS30584.1																																																																																				0.532	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998	
MACF1	23499	hgsc.bcm.edu	37	1	39900294	39900294	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:39900294A>G	ENST00000372915.3	+	67	17549	c.17462A>G	c.(17461-17463)gAg>gGg	p.E5821G	MACF1_ENST00000545844.1_Missense_Mutation_p.E3863G|MACF1_ENST00000361689.2_Missense_Mutation_p.E3863G|MACF1_ENST00000564288.1_Missense_Mutation_p.E5925G|MACF1_ENST00000289893.4_Missense_Mutation_p.E4365G|MACF1_ENST00000539005.1_Missense_Mutation_p.E3733G|MACF1_ENST00000567887.1_Missense_Mutation_p.E5962G|MACF1_ENST00000317713.7_Missense_Mutation_p.E3863G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5821					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGCAACAAGAGGAAATGAGG	0.408																																																	0			1											61.0	61.0	61.0					1																	39900294		2203	4300	6503	39672881	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17462A>G	1.37:g.39900294A>G	ENSP00000362006:p.Glu5821Gly		39672881	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	A	28.8	4.953570	0.92660	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000011	T	0.72070	0.3415	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.983	D;D;D	0.76071	0.952;0.987;0.917	T	0.75360	-0.3345	10	0.87932	D	0	.	16.1596	0.81693	1.0:0.0:0.0:0.0	.	5821;3863;3807	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	G	3863;5821;3863;3863;3733;4365	ENSP00000439537:E3863G;ENSP00000362006:E5821G;ENSP00000354573:E3863G;ENSP00000313438:E3863G;ENSP00000444364:E3733G;ENSP00000289893:E4365G	ENSP00000289893:E4365G	E	+	2	0	MACF1	39672881	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.287000	0.95975	2.216000	0.71823	0.533000	0.62120	GAG		0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
FAM159A	348378	hgsc.bcm.edu	37	1	53108595	53108595	+	Silent	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:53108595C>T	ENST00000517870.1	+	2	393	c.243C>T	c.(241-243)acC>acT	p.T81T	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	81						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TCATTGTTACCGCCTGTGTGC	0.537																																																	0			1											211.0	200.0	203.0					1																	53108595		2080	4203	6283	52881183	SO:0001819	synonymous_variant	348378				CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.243C>T	1.37:g.53108595C>T			52881183	Q6ZRG4	Silent	SNP	ENST00000517870.1	37	CCDS41336.1																																																																																				0.537	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693	
LRRC39	127495	hgsc.bcm.edu	37	1	100618070	100618070	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:100618070A>G	ENST00000370137.1	-	9	1021	c.823T>C	c.(823-825)Ttc>Ctc	p.F275L	LRRC39_ENST00000342895.3_Missense_Mutation_p.F275L|LRRC39_ENST00000370138.1_Missense_Mutation_p.F275L	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	275										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTGTCTCTGAAGTTGACAAAC	0.373																																																	0			1											106.0	100.0	102.0					1																	100618070		2203	4300	6503	100390658	SO:0001583	missense	127495			AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.823T>C	1.37:g.100618070A>G	ENSP00000359156:p.Phe275Leu		100390658	B3KUD2|D3DT56|Q5VVK7	Missense_Mutation	SNP	ENST00000370137.1	37	CCDS766.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.516817	0.44763	.	.	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	T;T;T	0.26518	1.73;1.73;1.73	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000007	T	0.29190	0.0726	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.23476	-1.0187	10	0.02654	T	1	.	16.2997	0.82804	1.0:0.0:0.0:0.0	.	275;275	Q96DD0-2;Q96DD0	.;LRC39_HUMAN	L	275	ENSP00000359156:F275L;ENSP00000359157:F275L;ENSP00000344470:F275L	ENSP00000344470:F275L	F	-	1	0	LRRC39	100390658	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.567000	0.90737	2.250000	0.74265	0.528000	0.53228	TTC		0.373	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620	
PHTF1	10745	hgsc.bcm.edu	37	1	114249245	114249245	+	Silent	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:114249245A>G	ENST00000369604.1	-	12	1852	c.1369T>C	c.(1369-1371)Ttg>Ctg	p.L457L	PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000357783.2_Silent_p.L457L|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369598.1_Silent_p.L412L|PHTF1_ENST00000393357.2_Silent_p.L457L|PHTF1_ENST00000369600.1_Silent_p.L404L|PHTF1_ENST00000369596.2_Silent_p.L404L			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	457					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTATTTCCAACACAGACATA	0.363																																																	0			1											159.0	153.0	155.0					1																	114249245		2203	4300	6503	114050768	SO:0001819	synonymous_variant	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1369T>C	1.37:g.114249245A>G			114050768	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Silent	SNP	ENST00000369604.1	37	CCDS861.1																																																																																				0.363	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608	
FLG	2312	hgsc.bcm.edu	37	1	152276887	152276887	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:152276887T>C	ENST00000368799.1	-	3	10510	c.10475A>G	c.(10474-10476)gAc>gGc	p.D3492G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3492	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)			TGATTGTTCGTCATTACGAGT	0.572									Ichthyosis																																								0			1											288.0	282.0	284.0					1																	152276887		2203	4297	6500	150543511	SO:0001583	missense	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.10475A>G	1.37:g.152276887T>C	ENSP00000357789:p.Asp3492Gly		150543511	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	4.501	0.092853	0.08632	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	2.95	0.405	0.16361	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	P	0.45715	0.865	P	0.45913	0.497	T	0.46735	-0.9170	9	0.24483	T	0.36	.	5.2744	0.15641	0.0:0.304:0.0:0.696	.	3492	P20930	FILA_HUMAN	G	3492	ENSP00000357789:D3492G	ENSP00000357789:D3492G	D	-	2	0	FLG	150543511	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.267000	0.08619	0.191000	0.20236	0.327000	0.21459	GAC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
USP21	27005	hgsc.bcm.edu	37	1	161130911	161130911	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:161130911G>A	ENST00000289865.8	+	2	702	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Missense_Mutation_p.G161R|USP21_ENST00000368002.3_Missense_Mutation_p.G161R	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	161					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G161W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCGCCGCCTAGGGGGCTTTCC	0.642																																																	1	Substitution - Missense(1)	lung(1)	1											53.0	54.0	53.0					1																	161130911		2203	4300	6503	159397535	SO:0001583	missense	29761			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.481G>A	1.37:g.161130911G>A	ENSP00000289865:p.Gly161Arg		159397535	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434635	0.43224	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.43688	0.94;0.94;0.94	4.89	4.89	0.63831	.	0.433672	0.22106	N	0.064552	T	0.07593	0.0191	N	0.08118	0	0.29981	N	0.817726	B	0.33883	0.43	B	0.34093	0.175	T	0.13791	-1.0496	10	0.10636	T	0.68	.	6.8965	0.24259	0.0918:0.1781:0.7301:0.0	.	161	Q9UK80	UBP21_HUMAN	R	161	ENSP00000356981:G161R;ENSP00000289865:G161R;ENSP00000356980:G161R	ENSP00000289865:G161R	G	+	1	0	USP21	159397535	0.996000	0.38824	0.968000	0.41197	0.976000	0.68499	2.831000	0.48144	2.538000	0.85594	0.462000	0.41574	GGG		0.642	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1		
CACNA1E	777	hgsc.bcm.edu	37	1	181732597	181732597	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:181732597G>A	ENST00000367573.2	+	34	4745	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1533H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1189H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1563H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1514H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1563H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1582H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1582					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGAGCTGCCCGCCTCATAAAG	0.473																																																	0			1											81.0	79.0	80.0					1																	181732597		1858	4097	5955	179999220	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4745G>A	1.37:g.181732597G>A	ENSP00000356545:p.Arg1582His		179999220	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907202	0.92107	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	5.28	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.99820	4.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.97110	1.0;0.996;0.838	D	0.96366	0.9270	10	0.87932	D	0	.	13.9604	0.64175	0.076:0.0:0.924:0.0	.	1563;1582;1582	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	1582;1563;1533;1514;1189;1563;1582	ENSP00000356542:R1582H;ENSP00000434814:R1563H;ENSP00000350183:R1533H;ENSP00000351101:R1514H;ENSP00000356539:R1189H;ENSP00000353222:R1563H;ENSP00000356545:R1582H	ENSP00000350183:R1533H	R	+	2	0	CACNA1E	179999220	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.193000	0.94954	2.471000	0.83476	0.467000	0.42956	CGC		0.473	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
PPFIA4	8497	hgsc.bcm.edu	37	1	203025603	203025603	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:203025603G>A	ENST00000447715.2	+	23	2582	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	PPFIA4_ENST00000367240.2_Missense_Mutation_p.G715D|PPFIA4_ENST00000414050.2_Missense_Mutation_p.G443D|PPFIA4_ENST00000599966.1_Missense_Mutation_p.G230D|PPFIA4_ENST00000295706.4_Missense_Mutation_p.G230D|PPFIA4_ENST00000272198.6_Missense_Mutation_p.G230D			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	714					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.G861V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAGAAGCTTGGCCACCCAGCC	0.577																																																	1	Substitution - Missense(1)	lung(1)	1											32.0	38.0	36.0					1																	203025603		2061	4182	6243	201292226	SO:0001583	missense	8497			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2141G>A	1.37:g.203025603G>A	ENSP00000402576:p.Gly714Asp		201292226	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37		.	.	.	.	.	.	.	.	.	.	g	12.26	1.883894	0.33255	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	4.78	4.78	0.61160	.	0.000000	0.46442	D	0.000298	T	0.29524	0.0736	L	0.40543	1.245	0.47584	D	0.999465	P;B;P;P	0.52842	0.956;0.241;0.846;0.761	P;B;P;B	0.52823	0.71;0.147;0.637;0.434	T	0.01114	-1.1447	10	0.44086	T	0.13	-29.1595	16.1762	0.81855	0.0:0.0:1.0:0.0	.	443;714;230;230	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	D	715;714;230;443;230	ENSP00000356209:G715D;ENSP00000402576:G714D;ENSP00000295706:G230D;ENSP00000400379:G443D;ENSP00000272198:G230D	ENSP00000272198:G230D	G	+	2	0	PPFIA4	201292226	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.062000	0.57492	2.489000	0.83994	0.457000	0.33378	GGC		0.577	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	
ESRRG	2104	hgsc.bcm.edu	37	1	216850648	216850648	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:216850648G>A	ENST00000408911.3	-	2	395	c.242C>T	c.(241-243)tCg>tTg	p.S81L	ESRRG_ENST00000391890.3_Missense_Mutation_p.S58L|ESRRG_ENST00000366940.2_Missense_Mutation_p.S58L|ESRRG_ENST00000487276.1_Missense_Mutation_p.S58L|ESRRG_ENST00000360012.3_Missense_Mutation_p.S58L|ESRRG_ENST00000361525.3_Missense_Mutation_p.S58L|ESRRG_ENST00000359162.2_Missense_Mutation_p.S58L|ESRRG_ENST00000493603.1_Missense_Mutation_p.S58L|ESRRG_ENST00000463665.1_Missense_Mutation_p.S58L|ESRRG_ENST00000361395.2_Missense_Mutation_p.S58L|ESRRG_ENST00000366937.1_Missense_Mutation_p.S86L|ESRRG_ENST00000366938.2_Missense_Mutation_p.S58L|ESRRG_ENST00000493748.1_Missense_Mutation_p.S58L	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	81					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S81L(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GAGAGGTGGCGAGTCAAGTCC	0.562																																																	1	Substitution - Missense(1)	ovary(1)	1											169.0	147.0	155.0					1																	216850648		2203	4300	6503	214917271	SO:0001583	missense	2104			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.242C>T	1.37:g.216850648G>A	ENSP00000386171:p.Ser81Leu		214917271	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	36	5.934263	0.97122	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.95447	-3.25;-3.25;-3.26;-3.28;-3.25;-3.25;-3.25;-3.25;-3.25;-3.28;-3.71;-3.25;-3.25;-3.08;-0.06	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	M	0.62723	1.935	0.80722	D	1	D;D;D	0.69078	0.965;0.997;0.994	P;D;P	0.69479	0.506;0.964;0.885	D	0.96583	0.9432	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	58;86;81	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	L	58;58;86;81;58;58;58;58;58;58;58;58;58;58;58;58	ENSP00000355225:S58L;ENSP00000355907:S58L;ENSP00000355904:S86L;ENSP00000386171:S81L;ENSP00000352077:S58L;ENSP00000354584:S58L;ENSP00000355905:S58L;ENSP00000353108:S58L;ENSP00000419594:S58L;ENSP00000375761:S58L;ENSP00000418629:S58L;ENSP00000419155:S58L;ENSP00000417374:S58L;ENSP00000419514:S58L;ENSP00000417900:S58L	ENSP00000346386:S58L	S	-	2	0	ESRRG	214917271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	TCG		0.562	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595	
OR2T6	254879	hgsc.bcm.edu	37	1	248551325	248551325	+	Missense_Mutation	SNP	G	G	A	rs376407108	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:248551325G>A	ENST00000355728.2	+	1	416	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ATCAGCTGGCGGGTCTGCTGG	0.582													c|||	3	0.000599042	0.0	0.0	5008	,	,		18629	0.0		0.0	False		,,,				2504	0.0031																0			1						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	77.0	78.0		416	-2.5	0.0	1		78	0,8600		0,0,4300	no	missense	OR2T6	NM_001005471.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	139/309	248551325	1,13005	2203	4300	6503	246617948	SO:0001583	missense	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.416G>A	1.37:g.248551325G>A	ENSP00000347965:p.Arg139Gln		246617948	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	3.197	-0.164473	0.06502	2.27E-4	0.0	ENSG00000198104	ENST00000355728	T	0.41758	0.99	4.19	-2.49	0.06403	GPCR, rhodopsin-like superfamily (1);	0.349689	0.20460	N	0.091918	T	0.28400	0.0702	L	0.45744	1.44	0.09310	N	1	B	0.33512	0.415	B	0.33690	0.168	T	0.15607	-1.0431	10	0.31617	T	0.26	.	6.5184	0.22260	0.5142:0.1284:0.3573:0.0	.	139	Q8NHC8	OR2T6_HUMAN	Q	139	ENSP00000347965:R139Q	ENSP00000347965:R139Q	R	+	2	0	OR2T6	246617948	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.204000	0.09425	-0.353000	0.08224	-0.805000	0.03199	CGG		0.582	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471	
ZDHHC5	25921	hgsc.bcm.edu	37	11	57466038	57466038	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr11:57466038G>A	ENST00000287169.3	+	11	2492	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R324H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	377					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAGTTGAGTCGTGGGGACAGC	0.517																																																	0			11											107.0	106.0	107.0					11																	57466038		2201	4296	6497	57222614	SO:0001583	missense	25921			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1130G>A	11.37:g.57466038G>A	ENSP00000287169:p.Arg377His		57222614	Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660875	0.47572	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.83419	0.28;1.28;-1.72	5.52	5.52	0.82312	.	0.641922	0.16763	N	0.200522	D	0.85243	0.5652	L	0.46157	1.445	0.58432	D	0.999999	D	0.56968	0.978	P	0.52309	0.695	D	0.85797	0.1371	10	0.66056	D	0.02	-7.0692	17.386	0.87416	0.0:0.0:1.0:0.0	.	377	Q9C0B5	ZDHC5_HUMAN	H	324;377;211	ENSP00000432202:R324H;ENSP00000287169:R377H;ENSP00000435722:R211H	ENSP00000287169:R377H	R	+	2	0	ZDHHC5	57222614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.711000	0.91396	2.873000	0.98535	0.563000	0.77884	CGT		0.517	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457	
RAB3IL1	5866	hgsc.bcm.edu	37	11	61673947	61673947	+	Silent	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr11:61673947C>T	ENST00000394836.2	-	5	805	c.648G>A	c.(646-648)gaG>gaA	p.E216E	RAB3IL1_ENST00000301773.5_Intron	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	216					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CCTCCTTGCCCTCTCTGTCTG	0.706																																																	0			11											12.0	11.0	11.0					11																	61673947		2095	4135	6230	61430523	SO:0001819	synonymous_variant	5866			AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.648G>A	11.37:g.61673947C>T			61430523	Q86V32|Q9P1Q8	Silent	SNP	ENST00000394836.2	37	CCDS8014.1																																																																																				0.706	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401	
FAT3	120114	hgsc.bcm.edu	37	11	92570842	92570842	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr11:92570842C>T	ENST00000298047.6	+	16	10255	c.10238C>T	c.(10237-10239)tCt>tTt	p.S3413F	FAT3_ENST00000525166.1_Missense_Mutation_p.S3263F|FAT3_ENST00000409404.2_Missense_Mutation_p.S3413F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3413	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGGATACTCTCTGCTTGTC	0.488										TCGA Ovarian(4;0.039)																																							0			11											113.0	115.0	114.0					11																	92570842		1985	4163	6148	92210490	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10238C>T	11.37:g.92570842C>T	ENSP00000298047:p.Ser3413Phe		92210490	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.549432	0.86127	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01871	4.59;4.59;4.59	4.79	4.79	0.61399	.	.	.	.	.	T	0.11623	0.0283	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00496	-1.1705	9	0.72032	D	0.01	.	18.4248	0.90605	0.0:1.0:0.0:0.0	.	3413	Q8TDW7-3	.	F	3413;3413;3263	ENSP00000298047:S3413F;ENSP00000387040:S3413F;ENSP00000432586:S3263F	ENSP00000298047:S3413F	S	+	2	0	FAT3	92210490	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.546000	0.82137	2.648000	0.89879	0.650000	0.86243	TCT		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
CCDC67	159989	hgsc.bcm.edu	37	11	93148220	93148220	+	Silent	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr11:93148220G>A	ENST00000298050.3	+	13	1678	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	CCDC67_ENST00000525646.1_Silent_p.S268S	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	526					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TGCCACCTTCGACATTTCAAG	0.413																																																	0			11											217.0	203.0	207.0					11																	93148220		1932	4128	6060	92787868	SO:0001819	synonymous_variant	159989			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1578G>A	11.37:g.93148220G>A			92787868	Q8NEF1|Q96LL7	Silent	SNP	ENST00000298050.3	37	CCDS44707.1																																																																																				0.413	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645	
ATM	472	hgsc.bcm.edu	37	11	108139301	108139301	+	Missense_Mutation	SNP	A	A	G	rs35813135		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr11:108139301A>G	ENST00000452508.2	+	19	2992	c.2803A>G	c.(2803-2805)Acg>Gcg	p.T935A	ATM_ENST00000278616.4_Missense_Mutation_p.T935A|AP001925.1_ENST00000596081.1_5'Flank			Q13315	ATM_HUMAN	ATM serine/threonine kinase	935			T -> A. {ECO:0000269|PubMed:17344846}.|T -> M (in dbSNP:rs3218708).		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)	TGATTCTAGCACGCTAGAACC	0.393			"""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)			A|||	1	0.000199681	0.0	0.0	5008	,	,		18115	0.001		0.0	False		,,,				2504	0.0						yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			11											159.0	146.0	150.0					11																	108139301		2201	4298	6499	107644511	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2803A>G	11.37:g.108139301A>G	ENSP00000388058:p.Thr935Ala		107644511	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.655957	0.00779	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.70516	-0.49;-0.49;-0.49	5.5	3.14	0.36123	Armadillo-type fold (1);	0.774747	0.12455	N	0.467361	T	0.43010	0.1228	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28933	-1.0028	10	0.08179	T	0.78	.	4.8104	0.13340	0.6646:0.0:0.2072:0.1282	rs35813135	935	Q13315	ATM_HUMAN	A	935	ENSP00000435747:T935A;ENSP00000278616:T935A;ENSP00000388058:T935A	ENSP00000278616:T935A	T	+	1	0	ATM	107644511	0.654000	0.27367	0.559000	0.28332	0.132000	0.20833	1.343000	0.33930	0.375000	0.24679	-0.333000	0.08304	ACG		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
NLRX1	79671	hgsc.bcm.edu	37	11	119045315	119045315	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr11:119045315G>A	ENST00000409109.1	+	6	1590	c.1003G>A	c.(1003-1005)Gtt>Att	p.V335I	NLRX1_ENST00000292199.2_Missense_Mutation_p.V335I|NLRX1_ENST00000525863.1_Missense_Mutation_p.V335I|NLRX1_ENST00000409991.1_Missense_Mutation_p.V335I|NLRX1_ENST00000409265.4_Missense_Mutation_p.V335I	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	335	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|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 interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGGGTATGCCGTTGGCGGTTC	0.612																																																	0			11											108.0	105.0	106.0					11																	119045315		2200	4295	6495	118550525	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1003G>A	11.37:g.119045315G>A	ENSP00000387334:p.Val335Ile		118550525	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	4.082	0.013095	0.07912	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70986	-0.42;-0.42;-0.53;-0.42;-0.53	5.57	4.65	0.58169	.	0.817770	0.11194	N	0.589557	T	0.46870	0.1415	N	0.08118	0	0.09310	N	1	B;B	0.27700	0.049;0.186	B;B	0.11329	0.001;0.006	T	0.31724	-0.9933	10	0.44086	T	0.13	.	5.7662	0.18227	0.1601:0.0:0.6834:0.1565	.	335;335	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	I	335	ENSP00000386851:V335I;ENSP00000292199:V335I;ENSP00000386858:V335I;ENSP00000387334:V335I;ENSP00000433442:V335I	ENSP00000292199:V335I	V	+	1	0	NLRX1	118550525	0.280000	0.24249	0.005000	0.12908	0.000000	0.00434	3.019000	0.49635	1.385000	0.46445	-0.164000	0.13417	GTT		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	
GMNN	51053	hgsc.bcm.edu	37	6	24784335	24784335	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr6:24784335T>C	ENST00000230056.3	+	5	627	c.295T>C	c.(295-297)Tgg>Cgg	p.W99R	GMNN_ENST00000356509.3_Missense_Mutation_p.W99R	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	99	Necessary and sufficient for interaction with IDAS and CDT1.				mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						CTCTCAGTATTGGAAGGAAGT	0.279																																																	0			6											43.0	44.0	44.0					6																	24784335		2203	4300	6503	24892314	SO:0001583	missense	51053			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.295T>C	6.37:g.24784335T>C	ENSP00000230056:p.Trp99Arg		24892314	B3KMM8|Q9H1Z1	Missense_Mutation	SNP	ENST00000230056.3	37	CCDS4560.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288045	0.80803	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000378059	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70004	-0.4991	10	0.87932	D	0	-14.9459	16.3818	0.83467	0.0:0.0:0.0:1.0	.	99	O75496	GEMI_HUMAN	R	99	ENSP00000348902:W99R;ENSP00000230056:W99R;ENSP00000367293:W99R;ENSP00000367298:W99R	ENSP00000230056:W99R	W	+	1	0	GMNN	24892314	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.717000	0.74707	2.330000	0.79161	0.528000	0.53228	TGG		0.279	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895	
STK38	11329	hgsc.bcm.edu	37	6	36466155	36466155	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr6:36466155T>C	ENST00000229812.7	-	11	1346	c.1061A>G	c.(1060-1062)aAg>aGg	p.K354R		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTAGATCCTTGGCTTTCTC	0.368																																					Colon(180;997 3561 16158)												0			6											122.0	126.0	124.0					6																	36466155		2203	4300	6503	36574133	SO:0001583	missense	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.1061A>G	6.37:g.36466155T>C	ENSP00000229812:p.Lys354Arg		36574133		Missense_Mutation	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476938	0.44044	.	.	ENSG00000112079	ENST00000229812	T	0.68025	-0.3	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	N	0.17764	0.52	0.80722	D	1	B	0.14805	0.011	B	0.20577	0.03	T	0.33111	-0.9881	10	0.13853	T	0.58	.	16.3469	0.83138	0.0:0.0:0.0:1.0	.	354	Q15208	STK38_HUMAN	R	354	ENSP00000229812:K354R	ENSP00000229812:K354R	K	-	2	0	STK38	36574133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.286000	0.72665	2.263000	0.75096	0.528000	0.53228	AAG		0.368	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271	
OPN5	221391	hgsc.bcm.edu	37	6	47763115	47763115	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr6:47763115A>G	ENST00000371211.2	+	4	600	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	OPN5_ENST00000393699.2_Missense_Mutation_p.Q191R|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Missense_Mutation_p.Q191R	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	191					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGGCTGGCCCAGGCCTCGGTA	0.582																																					Melanoma(28;740 973 10870 42660 45347)												0			6											89.0	80.0	83.0					6																	47763115		2203	4300	6503	47871074	SO:0001583	missense	221391			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.572A>G	6.37:g.47763115A>G	ENSP00000360255:p.Gln191Arg		47871074	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778314	0.70107	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.36699	1.24;1.24;1.24	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.103349	0.64402	D	0.000001	T	0.21387	0.0515	L	0.37466	1.105	0.49915	D	0.999836	P	0.41978	0.767	B	0.42112	0.376	T	0.02037	-1.1225	10	0.30078	T	0.28	.	16.3351	0.83056	1.0:0.0:0.0:0.0	.	191	Q6U736	OPN5_HUMAN	R	191	ENSP00000426991:Q191R;ENSP00000360255:Q191R;ENSP00000377302:Q191R	ENSP00000360255:Q191R	Q	+	2	0	OPN5	47871074	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.262000	0.75019	0.528000	0.53228	CAG		0.582	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744	
BAI3	577	hgsc.bcm.edu	37	6	70098768	70098768	+	Silent	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr6:70098768T>C	ENST00000370598.1	+	32	5375	c.4554T>C	c.(4552-4554)ttT>ttC	p.F1518F	BAI3_ENST00000238918.8_Silent_p.F724F|BAI3_ENST00000546190.1_Silent_p.F482F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1518					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F1518F(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGGGTGACTTTCAAACAGAAG	0.418																																																	1	Substitution - coding silent(1)	skin(1)	6											65.0	59.0	61.0					6																	70098768		2203	4300	6503	70155489	SO:0001819	synonymous_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4554T>C	6.37:g.70098768T>C			70155489	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
RRAGD	58528	hgsc.bcm.edu	37	6	90097191	90097191	+	Silent	SNP	G	G	A	rs145002359		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr6:90097191G>A	ENST00000369415.4	-	2	543	c.267C>T	c.(265-267)aaC>aaT	p.N89N	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		ACAGAGTTTCGTTGGGAGACA	0.463																																																	0			6						G		0,4406		0,0,2203	207.0	225.0	219.0		267	-0.3	1.0	6	dbSNP_134	219	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RRAGD	NM_021244.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		89/401	90097191	1,13005	2203	4300	6503	90153910	SO:0001819	synonymous_variant	58528			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.267C>T	6.37:g.90097191G>A			90153910		Silent	SNP	ENST00000369415.4	37	CCDS5022.1																																																																																				0.463	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244	
MAN1A1	4121	hgsc.bcm.edu	37	6	119510874	119510874	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr6:119510874C>T	ENST00000368468.3	-	10	1942	c.1501G>A	c.(1501-1503)Ggg>Agg	p.G501R		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	501					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATTTCAGCCCCGAGTTCAAGG	0.498																																					Ovarian(136;8 1825 12608 33541 47587)												0			6											141.0	138.0	139.0					6																	119510874		2203	4300	6503	119552573	SO:0001583	missense	4121			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1501G>A	6.37:g.119510874C>T	ENSP00000357453:p.Gly501Arg		119552573	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512750	0.85389	.	.	ENSG00000111885	ENST00000368468	T	0.73897	-0.79	5.52	5.52	0.82312	.	0.055863	0.64402	D	0.000001	D	0.90741	0.7094	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93395	0.6755	10	0.87932	D	0	-5.6292	19.4267	0.94743	0.0:1.0:0.0:0.0	.	501	P33908	MA1A1_HUMAN	R	501	ENSP00000357453:G501R	ENSP00000357453:G501R	G	-	1	0	MAN1A1	119552573	1.000000	0.71417	0.928000	0.36995	0.417000	0.31264	7.786000	0.85741	2.596000	0.87737	0.655000	0.94253	GGG		0.498	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907	
BCLAF1	9774	hgsc.bcm.edu	37	6	136597312	136597312	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr6:136597312C>A	ENST00000531224.1	-	5	1603	c.1351G>T	c.(1351-1353)Gat>Tat	p.D451Y	BCLAF1_ENST00000527759.1_Missense_Mutation_p.D449Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D449Y|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D449Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D451Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	451					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)		CTAAATCCATCACTTTCTCTA	0.368																																					Colon(142;1534 1789 5427 7063 28491)												0			6											143.0	145.0	144.0					6																	136597312		2203	4300	6503	136639005	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.1351G>T	6.37:g.136597312C>A	ENSP00000435210:p.Asp451Tyr		136639005	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127823	0.56721	.	.	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	5.21	5.21	0.72293	.	0.087906	0.49305	D	0.000154	T	0.10423	0.0255	N	0.14661	0.345	0.80722	D	1	P;D;P	0.54207	0.471;0.965;0.471	B;P;B	0.47981	0.325;0.563;0.325	T	0.07966	-1.0745	10	0.66056	D	0.02	-11.4404	19.2018	0.93714	0.0:1.0:0.0:0.0	.	449;449;451	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	Y	451;449;451;449;449;451	ENSP00000435210:D451Y;ENSP00000229446:D449Y;ENSP00000435441:D451Y;ENSP00000434826:D449Y;ENSP00000376159:D449Y;ENSP00000431734:D451Y	ENSP00000229446:D449Y	D	-	1	0	BCLAF1	136639005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.487000	0.53222	2.611000	0.88343	0.644000	0.83932	GAT		0.368	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
SLC16A13	201232	hgsc.bcm.edu	37	17	6941499	6941499	+	Silent	SNP	G	G	A	rs200228263		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr17:6941499G>A	ENST00000308027.6	+	3	680	c.372G>A	c.(370-372)ccG>ccA	p.P124P		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	124						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTTCGCTCCGACCCTGGCCT	0.592																																																	0			17											77.0	77.0	77.0					17																	6941499		2203	4300	6503	6882223	SO:0001819	synonymous_variant	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.372G>A	17.37:g.6941499G>A			6882223	A3KMG3|A5PKU5|Q2VP92	Silent	SNP	ENST00000308027.6	37	CCDS11085.1																																																																																				0.592	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2		
TP53	7157	hgsc.bcm.edu	37	17	7578236	7578236	+	Missense_Mutation	SNP	A	A	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr17:7578236A>C	ENST00000269305.4	-	6	802	c.613T>G	c.(613-615)Tat>Gat	p.Y205D	TP53_ENST00000420246.2_Missense_Mutation_p.Y205D|TP53_ENST00000445888.2_Missense_Mutation_p.Y205D|TP53_ENST00000413465.2_Missense_Mutation_p.Y205D|TP53_ENST00000455263.2_Missense_Mutation_p.Y205D|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCATCCAAATACTCCACACGC	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	48	Substitution - Missense(30)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(6)|biliary_tract(5)|large_intestine(5)|endometrium(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|breast(3)|pancreas(3)|stomach(2)|lung(2)|skin(2)|urinary_tract(1)|oesophagus(1)|ovary(1)	17											136.0	121.0	126.0					17																	7578236		2203	4300	6503	7518961	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.613T>G	17.37:g.7578236A>C	ENSP00000269305:p.Tyr205Asp		7518961	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153962	0.78114	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.997;0.999;0.998;0.999;0.999;0.997;0.999	D;D;D;D;D;D;D	0.79108	0.986;0.991;0.972;0.988;0.992;0.988;0.984	D	0.96347	0.9255	10	0.87932	D	0	-5.8058	13.709	0.62656	1.0:0.0:0.0:0.0	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205D;ENSP00000352610:Y205D;ENSP00000269305:Y205D;ENSP00000398846:Y205D;ENSP00000391127:Y205D;ENSP00000391478:Y205D;ENSP00000425104:Y73D;ENSP00000423862:Y112D	ENSP00000269305:Y205D	Y	-	1	0	TP53	7518961	1.000000	0.71417	0.163000	0.22734	0.042000	0.13812	7.465000	0.80898	2.183000	0.69458	0.533000	0.62120	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
PIPOX	51268	hgsc.bcm.edu	37	17	27380507	27380507	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr17:27380507C>T	ENST00000323372.4	+	4	880	c.554C>T	c.(553-555)aCg>aTg	p.T185M	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	185					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)	p.T185M(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CTACTGGTCACGGTGAAAACC	0.562																																																	1	Substitution - Missense(1)	prostate(1)	17											137.0	121.0	126.0					17																	27380507		2203	4300	6503	24404633	SO:0001583	missense	51268			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.554C>T	17.37:g.27380507C>T	ENSP00000317721:p.Thr185Met		24404633	B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	C	8.391	0.839660	0.16891	.	.	ENSG00000179761	ENST00000323372;ENST00000419875	D	0.81821	-1.54	6.07	-10.1	0.00402	FAD dependent oxidoreductase (1);	0.650845	0.17280	N	0.180024	T	0.81588	0.4854	M	0.88450	2.955	0.09310	N	0.999999	P	0.35456	0.502	B	0.36244	0.22	T	0.69439	-0.5145	10	0.56958	D	0.05	-6.8642	22.0829	0.99966	0.0806:0.8342:0.0:0.0852	.	185	Q9P0Z9	SOX_HUMAN	M	185;116	ENSP00000317721:T185M	ENSP00000317721:T185M	T	+	2	0	PIPOX	24404633	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.161000	0.01278	-2.573000	0.00466	-2.333000	0.00248	ACG		0.562	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518	
NF1	4763	hgsc.bcm.edu	37	17	29677309	29677309	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr17:29677309C>A	ENST00000358273.4	+	50	7813	c.7430C>A	c.(7429-7431)cCc>cAc	p.P2477H	NF1_ENST00000444181.2_Missense_Mutation_p.P270H|NF1_ENST00000356175.3_Missense_Mutation_p.P2456H|NF1_ENST00000417592.2_Missense_Mutation_p.P190H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2477					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATACATATCCCATTCATCAT	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	17	GRCh37	CD000999	NF1	D							121.0	108.0	112.0					17																	29677309		2203	4300	6503	26701435	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7430C>A	17.37:g.29677309C>A	ENSP00000351015:p.Pro2477His		26701435	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275971	0.59649	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.48836	3.12;3.27;2.96;0.8	5.47	5.47	0.80525	Armadillo-type fold (1);	0.174248	0.52532	D	0.000076	T	0.48768	0.1518	N	0.24115	0.695	0.47737	D	0.999509	P;P	0.48407	0.91;0.511	P;B	0.50617	0.646;0.19	T	0.52830	-0.8523	10	0.72032	D	0.01	.	19.312	0.94192	0.0:1.0:0.0:0.0	.	2456;2477	P21359-2;P21359	.;NF1_HUMAN	H	2477;2456;2122;270;190	ENSP00000351015:P2477H;ENSP00000348498:P2456H;ENSP00000389907:P2122H;ENSP00000396481:P270H	ENSP00000348498:P2456H	P	+	2	0	NF1	26701435	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.381000	0.66208	2.569000	0.86673	0.563000	0.77884	CCC		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
ASIC2	40	hgsc.bcm.edu	37	17	31350986	31350986	+	Silent	SNP	G	G	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr17:31350986G>T	ENST00000359872.6	-	6	1850	c.1089C>A	c.(1087-1089)ccC>ccA	p.P363P	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Silent_p.P414P	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	363					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TTAGGTTGCAGGGTGTCCTGC	0.488																																																	0			17											150.0	133.0	139.0					17																	31350986		2203	4300	6503	28375099	SO:0001819	synonymous_variant	40			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1089C>A	17.37:g.31350986G>T			28375099	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	CCDS42296.1																																																																																				0.488	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
ACACA	31	hgsc.bcm.edu	37	17	35614629	35614629	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr17:35614629T>C	ENST00000394406.2	-	14	1901	c.1711A>G	c.(1711-1713)Att>Gtt	p.I571V	ACACA_ENST00000335166.5_Missense_Mutation_p.I493V|ACACA_ENST00000353139.5_Missense_Mutation_p.I608V|ACACA_ENST00000360679.3_Missense_Mutation_p.I513V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	571	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACTCACGAAATTGCCTCTTCT	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0			17											83.0	77.0	79.0					17																	35614629		2203	4300	6503	32688742	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1711A>G	17.37:g.35614629T>C	ENSP00000377928:p.Ile571Val		32688742	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.161993	0.57368	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.93	5.93	0.95920	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	L	0.41824	1.3	0.80722	D	1	B;B;B	0.24882	0.036;0.113;0.043	B;B;B	0.32677	0.06;0.15;0.132	T	0.68588	-0.5369	10	0.09338	T	0.73	.	15.5755	0.76380	0.0:0.0:0.0:1.0	.	608;571;513	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	V	608;513;571;595;493	ENSP00000344789:I608V;ENSP00000353898:I513V;ENSP00000377928:I571V;ENSP00000335323:I493V	ENSP00000335323:I493V	I	-	1	0	ACACA	32688742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	ATT		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
KIF19	124602	hgsc.bcm.edu	37	17	72342636	72342636	+	Silent	SNP	C	C	T	rs189039256	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr17:72342636C>T	ENST00000389916.4	+	8	1035	c.897C>T	c.(895-897)cgC>cgT	p.R299R		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	299	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCAACTATCGCGACAGCAAGC	0.567													C|||	3	0.000599042	0.0	0.0029	5008	,	,		16018	0.0		0.001	False		,,,				2504	0.0																0			17											72.0	44.0	53.0					17																	72342636		2096	4042	6138	69854231	SO:0001819	synonymous_variant	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.897C>T	17.37:g.72342636C>T			69854231	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	CCDS32718.2																																																																																				0.567	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
RNF213	57674	hgsc.bcm.edu	37	17	78320137	78320137	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr17:78320137A>G	ENST00000582970.1	+	29	8145	c.8002A>G	c.(8002-8004)Aag>Gag	p.K2668E	RNF213_ENST00000508628.2_Missense_Mutation_p.K2717E|RNF213_ENST00000336301.6_Missense_Mutation_p.K741E	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2668					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)			CTTTCTCTCCAAGTCCAGCGT	0.532																																																	0			17											67.0	65.0	66.0					17																	78320137		2203	4300	6503	75934732	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.8002A>G	17.37:g.78320137A>G	ENSP00000464087:p.Lys2668Glu		75934732	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	3.647	-0.072354	0.07228	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23552	1.9	5.37	-10.7	0.00240	.	1.196700	0.05917	N	0.632790	T	0.06690	0.0171	N	0.01219	-0.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37776	-0.9691	10	0.12103	T	0.63	.	11.3226	0.49430	0.602:0.2474:0.1506:0.0	.	741	Q63HN8	RN213_HUMAN	E	2668;2717;741	ENSP00000338218:K741E	ENSP00000338218:K741E	K	+	1	0	RNF213	75934732	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.599000	0.02085	-2.090000	0.00859	-0.468000	0.05107	AAG		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
TMPRSS15	5651	hgsc.bcm.edu	37	21	19725330	19725330	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr21:19725330C>A	ENST00000284885.3	-	10	1094	c.1061G>T	c.(1060-1062)tGt>tTt	p.C354F		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	354	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.C354F(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GACCCAGAAACAAAAGCCATC	0.333																																																	1	Substitution - Missense(1)	ovary(1)	21											80.0	84.0	83.0					21																	19725330		2203	4300	6503	18647201	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1061G>T	21.37:g.19725330C>A	ENSP00000284885:p.Cys354Phe		18647201	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911554	0.72983	.	.	ENSG00000154646	ENST00000284885	T	0.13538	2.58	5.2	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	H	0.97874	4.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.74432	-0.3667	9	.	.	.	.	18.0723	0.89413	0.0:1.0:0.0:0.0	.	354	P98073	ENTK_HUMAN	F	354	ENSP00000284885:C354F	.	C	-	2	0	TMPRSS15	18647201	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.162000	0.71874	2.572000	0.86782	0.655000	0.94253	TGT		0.333	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
CDH8	1006	hgsc.bcm.edu	37	16	61687706	61687706	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr16:61687706G>A	ENST00000577390.1	-	12	3160	c.2206C>T	c.(2206-2208)Ccc>Tcc	p.P736S	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	736					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGGGCCGTGGGATCATTATCT	0.498																																																	0			16											72.0	77.0	75.0					16																	61687706		2203	4300	6503	60245207	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2206C>T	16.37:g.61687706G>A	ENSP00000462701:p.Pro736Ser		60245207	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248324	0.59103	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.79605	-0.1734	9	0.51188	T	0.08	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	736	P55286	CADH8_HUMAN	S	736	.	ENSP00000299345:P736S	P	-	1	0	CDH8	60245207	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.807000	0.99171	2.679000	0.91253	0.655000	0.94253	CCC		0.498	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CCDC178	374864	hgsc.bcm.edu	37	18	30926183	30926183	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr18:30926183A>G	ENST00000383096.3	-	9	832	c.650T>C	c.(649-651)gTg>gCg	p.V217A	CCDC178_ENST00000579947.1_Missense_Mutation_p.V217A|CCDC178_ENST00000402325.1_Missense_Mutation_p.V217A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V217A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V217A|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.V217A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V217A			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	217																	ACCTTTCTGCACAGCCAATGG	0.323																																																	0			18											99.0	99.0	99.0					18																	30926183		2203	4300	6503	29180181	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.650T>C	18.37:g.30926183A>G	ENSP00000372576:p.Val217Ala		29180181	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.442190	0.25987	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.63255	1.36;1.36;1.36;1.37;1.35;-0.03	5.59	5.59	0.84812	.	.	.	.	.	T	0.74030	0.3663	L	0.55990	1.75	0.35289	D	0.782005	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.991;0.991;0.991	T	0.80226	-0.1470	9	0.45353	T	0.12	-16.5976	13.2917	0.60274	1.0:0.0:0.0:0.0	.	217;217;217;217	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	A	217	ENSP00000385591:V217A;ENSP00000372576:V217A;ENSP00000300227:V217A;ENSP00000385867:V217A;ENSP00000385234:V217A;ENSP00000382130:V217A	ENSP00000300227:V217A	V	-	2	0	C18orf34	29180181	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.551000	0.67274	2.129000	0.65627	0.455000	0.32223	GTG		0.323	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
DCC	1630	hgsc.bcm.edu	37	18	50734111	50734111	+	Silent	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr18:50734111T>C	ENST00000442544.2	+	11	2401	c.1785T>C	c.(1783-1785)agT>agC	p.S595S	DCC_ENST00000412726.1_Silent_p.S443S|DCC_ENST00000581580.1_Silent_p.S250S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	595	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGAATATAGTCTTCGATTCT	0.383																																																	0			18											149.0	154.0	152.0					18																	50734111		2203	4300	6503	48988109	SO:0001819	synonymous_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1785T>C	18.37:g.50734111T>C			48988109		Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																				0.383	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
C18orf54	162681	hgsc.bcm.edu	37	18	51887205	51887205	+	Missense_Mutation	SNP	A	A	G	rs564302523	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr18:51887205A>G	ENST00000300091.5	+	2	595	c.263A>G	c.(262-264)tAt>tGt	p.Y88C	STARD6_ENST00000577499.1_5'Flank|STARD6_ENST00000581310.1_5'Flank|C18orf54_ENST00000382911.4_Missense_Mutation_p.Y88C|STARD6_ENST00000584040.1_5'Flank|C18orf54_ENST00000578138.1_Intron	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	88						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TTCTGCAACTATATTTACAAA	0.313													A|||	2	0.000399361	0.0	0.0	5008	,	,		20432	0.0		0.0	False		,,,				2504	0.002																0			18											68.0	74.0	72.0					18																	51887205		2202	4298	6500	50141203	SO:0001583	missense	162681			AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.263A>G	18.37:g.51887205A>G	ENSP00000300091:p.Tyr88Cys		50141203	I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	A	9.123	1.009428	0.19277	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	D;D	0.97598	-4.45;-4.45	5.38	-3.95	0.04118	.	0.947638	0.08850	N	0.884566	D	0.91650	0.7361	L	0.38838	1.175	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.81831	-0.0752	10	0.35671	T	0.21	-11.3172	2.7028	0.05154	0.2782:0.1237:0.4202:0.1779	.	88;88	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	C	88	ENSP00000300091:Y88C;ENSP00000372368:Y88C	ENSP00000300091:Y88C	Y	+	2	0	C18orf54	50141203	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.212000	0.09319	-0.185000	0.10550	-0.263000	0.10527	TAT		0.313	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529	
CCBE1	147372	hgsc.bcm.edu	37	18	57363880	57363880	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr18:57363880C>T	ENST00000439986.4	-	2	230	c.193G>A	c.(193-195)Gag>Aag	p.E65K	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	65					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GTGGTGAGCTCGCCTGAAGAC	0.567											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)												0			18											106.0	108.0	107.0					18																	57363880		2203	4300	6503	55514860	SO:0001583	missense	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.193G>A	18.37:g.57363880C>T	ENSP00000404464:p.Glu65Lys	1022	55514860	Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676186	0.47886	.	.	ENSG00000183287	ENST00000439986	D	0.85339	-1.97	5.95	5.07	0.68467	.	0.000000	0.64402	D	0.000001	T	0.73737	0.3625	L	0.27053	0.805	0.80722	D	1	P	0.42375	0.778	B	0.33690	0.168	T	0.76686	-0.2868	10	0.72032	D	0.01	-25.3637	10.8457	0.46741	0.0:0.914:0.0:0.086	.	65	Q6UXH8	CCBE1_HUMAN	K	65	ENSP00000404464:E65K	ENSP00000404464:E65K	E	-	1	0	CCBE1	55514860	0.999000	0.42202	0.949000	0.38748	0.682000	0.39822	4.408000	0.59761	1.520000	0.48965	0.491000	0.48974	GAG		0.567	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	
VHL	7428	hgsc.bcm.edu	37	3	10191551	10191551	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:10191551A>G	ENST00000256474.2	+	3	1384	c.544A>G	c.(544-546)Agg>Ggg	p.R182G	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.R141G	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	182					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.R182fs*32(2)|p.R182fs*1(1)|p.V181fs*20(1)|p.L178_V181del(1)|p.V181fs*19(1)|p.I180fs*21(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)		GGACATCGTCAGGTCGCTCTA	0.517		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"""	7	Deletion - Frameshift(4)|Complex - frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(7)	3											85.0	77.0	80.0					3																	10191551		2203	4300	6503	10166551	SO:0001583	missense	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.544A>G	3.37:g.10191551A>G	ENSP00000256474:p.Arg182Gly		10166551	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454633	0.43634	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.97	0.955	0.19602	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.189261	0.42053	D	0.000772	D	0.99345	0.9770	M	0.63843	1.955	0.09310	N	1	P;P	0.50819	0.939;0.908	P;B	0.50934	0.654;0.433	D	0.99956	1.1625	10	0.72032	D	0.01	-8.6388	6.8061	0.23779	0.4385:0.4772:0.0842:0.0	.	141;182	P40337-2;P40337	.;VHL_HUMAN	G	182;141;100	ENSP00000256474:R182G;ENSP00000344757:R141G	ENSP00000256474:R182G	R	+	1	2	VHL	10166551	0.189000	0.23263	0.134000	0.22075	0.446000	0.32137	0.567000	0.23608	0.071000	0.16664	0.533000	0.62120	AGG		0.517	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
ITGA9	3680	hgsc.bcm.edu	37	3	37783236	37783236	+	Silent	SNP	C	C	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:37783236C>A	ENST00000264741.5	+	21	2506	c.2250C>A	c.(2248-2250)cgC>cgA	p.R750R		NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	750			R -> C (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACACGGAGCGCTCTGAATCCC	0.557																																																	0			3											107.0	82.0	91.0					3																	37783236		2203	4300	6503	37758240	SO:0001819	synonymous_variant	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2250C>A	3.37:g.37783236C>A			37758240	Q14638	Silent	SNP	ENST00000264741.5	37	CCDS2669.1																																																																																				0.557	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	
SCN10A	6336	hgsc.bcm.edu	37	3	38802217	38802217	+	Missense_Mutation	SNP	C	C	A	rs201955990	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:38802217C>A	ENST00000449082.2	-	7	904	c.905G>T	c.(904-906)cGa>cTa	p.R302L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	302					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGAAGTGCCTCGCTTATTTAT	0.453																																																	0			3											120.0	107.0	112.0					3																	38802217		2203	4300	6503	38777221	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.905G>T	3.37:g.38802217C>A	ENSP00000390600:p.Arg302Leu		38777221	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111985	0.37242	.	.	ENSG00000185313	ENST00000449082	D	0.95588	-3.75	4.36	-2.62	0.06152	Ion transport (1);	3.700920	0.04016	U	0.299077	D	0.89273	0.6668	N	0.08118	0	0.09310	N	1	B	0.22346	0.068	B	0.25987	0.065	T	0.80696	-0.1267	10	0.59425	D	0.04	.	9.8669	0.41150	0.0:0.1199:0.309:0.5711	.	302	Q9Y5Y9	SCNAA_HUMAN	L	302	ENSP00000390600:R302L	ENSP00000390600:R302L	R	-	2	0	SCN10A	38777221	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-2.029000	0.01430	-0.318000	0.08665	-0.929000	0.02709	CGA		0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266070	41266070	+	Missense_Mutation	SNP	A	A	G	rs121913416		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:41266070A>G	ENST00000349496.5	+	3	347	c.67A>G	c.(67-69)Agt>Ggt	p.S23G	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S23G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S23G|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S23G|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S16G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	23	Interaction with VCL. {ECO:0000250}.		S -> R (in hepatocellular carcinoma; no effect). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.?(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.M5_N141>D(2)|p.S23_S33del(2)|p.L10_N141del(2)|p.S23R(2)|p.A5_Y142>D(2)|p.S23G(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D6_S29del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.S23_I35del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.A5_I35del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AGCGGCTGTTAGTCACTGGCA	0.453		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	116	Deletion - In frame(88)|Complex - deletion inframe(15)|Unknown(7)|Substitution - Missense(4)|Deletion - Frameshift(2)	liver(87)|large_intestine(18)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|small_intestine(2)|skin(2)|adrenal_gland(1)|pancreas(1)	3											89.0	75.0	80.0					3																	41266070		2203	4300	6503	41241074	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.67A>G	3.37:g.41266070A>G	ENSP00000344456:p.Ser23Gly		41241074	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625416	0.46840	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	L	0.29908	0.895	0.80722	D	1	B	0.18968	0.032	B	0.20184	0.028	T	0.08659	-1.0711	10	0.23302	T	0.38	-0.5259	16.0676	0.80897	1.0:0.0:0.0:0.0	.	23	P35222	CTNB1_HUMAN	G	16;23;23;23;23;16;23;23;23	ENSP00000400508:S16G;ENSP00000385604:S23G;ENSP00000412219:S23G;ENSP00000379486:S23G;ENSP00000344456:S23G;ENSP00000411226:S16G;ENSP00000379488:S23G;ENSP00000409302:S23G;ENSP00000401599:S23G	ENSP00000344456:S23G	S	+	1	0	CTNNB1	41241074	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	AGT		0.453	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CNTN3	5067	hgsc.bcm.edu	37	3	74419063	74419063	+	Silent	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:74419063T>C	ENST00000263665.6	-	6	765	c.738A>G	c.(736-738)aaA>aaG	p.K246K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	246	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AACATTCCAATTTCACAGTCG	0.348																																																	0			3											93.0	94.0	94.0					3																	74419063		2203	4299	6502	74501753	SO:0001819	synonymous_variant	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.738A>G	3.37:g.74419063T>C			74501753	B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	CCDS33790.1																																																																																				0.348	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
SLC9C1	285335	hgsc.bcm.edu	37	3	111988838	111988838	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:111988838T>C	ENST00000305815.5	-	7	952	c.700A>G	c.(700-702)Atg>Gtg	p.M234V	SLC9C1_ENST00000487372.1_Missense_Mutation_p.M234V	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	234					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.M234L(1)									ACAGTTGACATCCAAAATTGA	0.338																																																	1	Substitution - Missense(1)	ovary(1)	3											68.0	73.0	72.0					3																	111988838		2203	4295	6498	113471528	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.700A>G	3.37:g.111988838T>C	ENSP00000306627:p.Met234Val		113471528	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.441495	0.25900	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.10668	2.85;2.85	5.9	4.79	0.61399	Cation/H+ exchanger (1);	0.307176	0.30940	N	0.008575	T	0.09335	0.0230	L	0.44542	1.39	0.22737	N	0.998794	P;P	0.40144	0.539;0.704	B;B	0.35470	0.139;0.203	T	0.25047	-1.0143	10	0.52906	T	0.07	-16.2819	9.1526	0.36973	0.0:0.0:0.2365:0.7635	.	234;234	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	V	234	ENSP00000306627:M234V;ENSP00000420688:M234V	ENSP00000306627:M234V	M	-	1	0	SLC9A10	113471528	0.998000	0.40836	0.961000	0.40146	0.387000	0.30353	0.915000	0.28638	2.258000	0.74832	0.413000	0.27773	ATG		0.338	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
FBXO40	51725	hgsc.bcm.edu	37	3	121341411	121341411	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:121341411G>T	ENST00000338040.4	+	3	1549	c.1135G>T	c.(1135-1137)Gat>Tat	p.D379Y		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	379					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAAGGCAGTGGATACTTCAGA	0.488																																																	0			3											118.0	109.0	112.0					3																	121341411		2203	4300	6503	122824101	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1135G>T	3.37:g.121341411G>T	ENSP00000337510:p.Asp379Tyr		122824101	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166181	0.57476	.	.	ENSG00000163833	ENST00000338040	T	0.50277	0.75	5.73	5.73	0.89815	.	0.045919	0.85682	D	0.000000	T	0.68339	0.2990	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70011	-0.4989	10	0.87932	D	0	-22.3895	17.4071	0.87476	0.0:0.0:1.0:0.0	.	379	Q9UH90	FBX40_HUMAN	Y	379	ENSP00000337510:D379Y	ENSP00000337510:D379Y	D	+	1	0	FBXO40	122824101	1.000000	0.71417	0.408000	0.26446	0.732000	0.41865	9.476000	0.97823	2.721000	0.93114	0.655000	0.94253	GAT		0.488	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
RAB6B	51560	hgsc.bcm.edu	37	3	133583442	133583442	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:133583442C>T	ENST00000285208.4	-	2	464	c.115G>A	c.(115-117)Gac>Aac	p.D39N	RAB6B_ENST00000543906.1_Missense_Mutation_p.D39N|RAB6B_ENST00000486858.1_Missense_Mutation_p.D26N|RAB6B_ENST00000469959.1_Intron	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	39					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						TATGTGTTGTCGAAGCTGTCG	0.517																																																	0			3											239.0	212.0	221.0					3																	133583442		2203	4300	6503	135066132	SO:0001583	missense	51560			AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.115G>A	3.37:g.133583442C>T	ENSP00000285208:p.Asp39Asn		135066132	B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944292	0.73672	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759;ENST00000488969	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.14	5.14	0.70334	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	N	0.11698	0.16	0.80722	D	1	P;P	0.45396	0.857;0.525	B;B	0.37833	0.259;0.083	T	0.70149	-0.4951	10	0.72032	D	0.01	-17.5156	14.121	0.65186	0.0:1.0:0.0:0.0	.	26;39	B7Z337;Q9NRW1	.;RAB6B_HUMAN	N	39;39;26;6;6	ENSP00000285208:D39N;ENSP00000437797:D39N;ENSP00000419381:D26N;ENSP00000419941:D6N;ENSP00000417433:D6N	ENSP00000285208:D39N	D	-	1	0	RAB6B	135066132	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.985000	0.70556	2.393000	0.81446	0.655000	0.94253	GAC		0.517	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1		
TRIM42	287015	hgsc.bcm.edu	37	3	140401611	140401611	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:140401611C>T	ENST00000286349.3	+	2	840	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	217						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTCACCAAGCGCTACATGCA	0.617																																																	0			3											76.0	75.0	75.0					3																	140401611		2203	4300	6503	141884301	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.649C>T	3.37:g.140401611C>T	ENSP00000286349:p.Arg217Cys		141884301	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779527	0.70107	.	.	ENSG00000155890	ENST00000286349	T	0.41758	0.99	5.2	4.26	0.50523	Zinc finger, RING/FYVE/PHD-type (1);	0.121315	0.36591	N	0.002507	T	0.53238	0.1784	L	0.55990	1.75	0.45490	D	0.998452	D	0.89917	1.0	P	0.61874	0.895	T	0.55592	-0.8117	10	0.87932	D	0	-21.371	10.2072	0.43120	0.198:0.802:0.0:0.0	.	217	Q8IWZ5	TRI42_HUMAN	C	217	ENSP00000286349:R217C	ENSP00000286349:R217C	R	+	1	0	TRIM42	141884301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.086000	0.50159	2.435000	0.82474	0.561000	0.74099	CGC		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616	
C3orf58	205428	hgsc.bcm.edu	37	3	143704415	143704415	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:143704415G>T	ENST00000315691.3	+	2	1223	c.688G>T	c.(688-690)Gca>Tca	p.A230S	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.A21S|C3orf58_ENST00000441925.2_5'UTR	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	230					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.A230P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGGCCATTTGCAAAGTATCT	0.383																																																	1	Substitution - Missense(1)	ovary(1)	3											148.0	147.0	147.0					3																	143704415		2203	4300	6503	145187105	SO:0001583	missense	205428			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.688G>T	3.37:g.143704415G>T	ENSP00000320081:p.Ala230Ser		145187105	B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410370	0.83340	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452	T	0.31247	1.5	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	L	0.51422	1.61	0.80722	D	1	P;D	0.61697	0.693;0.99	B;P	0.54664	0.315;0.758	T	0.41980	-0.9478	10	0.66056	D	0.02	.	18.8382	0.92171	0.0:0.0:1.0:0.0	.	21;230	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	S	230;21;36	ENSP00000320081:A230S	ENSP00000320081:A230S	A	+	1	0	C3orf58	145187105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.461000	0.83175	0.655000	0.94253	GCA		0.383	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552	
HRG	3273	hgsc.bcm.edu	37	3	186392939	186392939	+	Missense_Mutation	SNP	C	C	T	rs111439697	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr3:186392939C>T	ENST00000232003.4	+	6	781	c.701C>T	c.(700-702)cCg>cTg	p.P234L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	234	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TTGGAAAGCCCGAAAAACCTT	0.453													C|||	80	0.0159744	0.0575	0.0058	5008	,	,		20063	0.0		0.0	False		,,,				2504	0.0																0			3						C	LEU/PRO	278,4128	157.0+/-190.0	7,264,1932	237.0	241.0	240.0		701	5.3	0.6	3	dbSNP_132	240	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HRG	NM_000412.2	98	7,265,6231	TT,TC,CC		0.0116,6.3096,2.1452	probably-damaging	234/526	186392939	279,12727	2203	4300	6503	187875633	SO:0001583	missense	3273				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.701C>T	3.37:g.186392939C>T	ENSP00000232003:p.Pro234Leu		187875633	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	28	0.01282051282051282	25	0.0508130081300813	3	0.008287292817679558	0	0.0	0	0.0	C	15.04	2.715998	0.48622	0.063096	1.16E-4	ENSG00000113905	ENST00000232003	T	0.18174	2.23	5.28	5.28	0.74379	Proteinase inhibitor I25, cystatin (1);	0.000000	0.51477	D	0.000083	T	0.05731	0.0150	M	0.62723	1.935	0.44168	D	0.996975	D	0.89917	1.0	D	0.91635	0.999	T	0.00044	-1.2220	10	0.52906	T	0.07	-12.5376	14.794	0.69865	0.0:1.0:0.0:0.0	.	234	P04196	HRG_HUMAN	L	234	ENSP00000232003:P234L	ENSP00000232003:P234L	P	+	2	0	HRG	187875633	0.101000	0.21875	0.565000	0.28409	0.020000	0.10135	2.124000	0.42006	2.646000	0.89796	0.561000	0.74099	CCG		0.453	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
SLCO1B1	10599	hgsc.bcm.edu	37	12	21353504	21353504	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:21353504A>G	ENST00000256958.2	+	9	1129	c.1033A>G	c.(1033-1035)Acg>Gcg	p.T345A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	345					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGTGCTTTTGACGTTGTTACA	0.323																																																	0			12											116.0	105.0	109.0					12																	21353504		2203	4299	6502	21244771	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1033A>G	12.37:g.21353504A>G	ENSP00000256958:p.Thr345Ala		21244771	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	A	8.881	0.951601	0.18431	.	.	ENSG00000134538	ENST00000256958	T	0.57907	0.37	3.34	-1.18	0.09617	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.896444	0.09749	N	0.760806	T	0.36908	0.0984	L	0.42581	1.335	0.09310	N	1	B	0.21071	0.051	B	0.28305	0.088	T	0.33189	-0.9878	10	0.24483	T	0.36	.	0.5125	0.00597	0.3332:0.187:0.1156:0.3643	.	345	Q9Y6L6	SO1B1_HUMAN	A	345	ENSP00000256958:T345A	ENSP00000256958:T345A	T	+	1	0	SLCO1B1	21244771	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.255000	0.08769	0.021000	0.15133	0.402000	0.26972	ACG		0.323	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
KRAS	3845	hgsc.bcm.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000311936.3_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000556131.1_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)	12											88.0	78.0	82.0					12																	25398281		2203	4300	6503	25289548	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp		25289548	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
ITPR2	3709	hgsc.bcm.edu	37	12	26809461	26809461	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:26809461G>T	ENST00000381340.3	-	19	2629	c.2213C>A	c.(2212-2214)gCa>gAa	p.A738E		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	738					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCACATCCTTGCAAAGAGGTT	0.423																																																	0			12											63.0	64.0	64.0					12																	26809461		1954	4156	6110	26700728	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2213C>A	12.37:g.26809461G>T	ENSP00000370744:p.Ala738Glu		26700728	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892883	0.91889	.	.	ENSG00000123104	ENST00000381340	D	0.93307	-3.2	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96821	0.9604	10	0.72032	D	0.01	.	18.0329	0.89290	0.0:0.0:1.0:0.0	.	738	Q14571	ITPR2_HUMAN	E	738	ENSP00000370744:A738E	ENSP00000370744:A738E	A	-	2	0	ITPR2	26700728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.584000	0.98220	2.546000	0.85860	0.655000	0.94253	GCA		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
BICD1	636	hgsc.bcm.edu	37	12	32481359	32481359	+	Missense_Mutation	SNP	G	G	A	rs200686810		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:32481359G>A	ENST00000281474.5	+	5	2073	c.1970G>A	c.(1969-1971)cGg>cAg	p.R657Q	BICD1_ENST00000548411.1_Missense_Mutation_p.R657Q	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	657					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.R657Q(2)|p.R657L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCAGCGGCTCGGGAGCTAGCC	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16640	0.0		0.0	False		,,,				2504	0.0																3	Substitution - Missense(3)	central_nervous_system(2)|lung(1)	12											70.0	75.0	73.0					12																	32481359		2203	4300	6503	32372626	SO:0001583	missense	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1970G>A	12.37:g.32481359G>A	ENSP00000281474:p.Arg657Gln		32372626	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.61	3.171364	0.57584	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.43688	0.94;0.94	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	N	0.17594	0.5	0.80722	D	1	D;D	0.76494	0.996;0.999	P;P	0.62089	0.744;0.898	T	0.25813	-1.0121	10	0.13108	T	0.6	.	18.4173	0.90575	0.0:0.0:1.0:0.0	.	657;657	F8W113;Q96G01	.;BICD1_HUMAN	Q	657	ENSP00000446793:R657Q;ENSP00000281474:R657Q	ENSP00000281474:R657Q	R	+	2	0	BICD1	32372626	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	6.595000	0.74109	2.333000	0.79357	0.655000	0.94253	CGG		0.502	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
FGD4	121512	hgsc.bcm.edu	37	12	32751501	32751501	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:32751501G>T	ENST00000427716.2	+	5	1095	c.671G>T	c.(670-672)cGa>cTa	p.R224L	FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_Missense_Mutation_p.R131L|FGD4_ENST00000381025.3_5'UTR|FGD4_ENST00000534526.2_Missense_Mutation_p.R361L|FGD4_ENST00000525053.1_Missense_Mutation_p.R336L|FGD4_ENST00000531134.1_Missense_Mutation_p.R309L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	224	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TATGTCAACCGACTTGACCTC	0.299																																																	0			12											84.0	84.0	84.0					12																	32751501		2203	4299	6502	32642768	SO:0001583	missense	121512			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.671G>T	12.37:g.32751501G>T	ENSP00000394487:p.Arg224Leu		32642768	Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460922	0.84317	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000546442;ENST00000525053	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	4.91	4.91	0.64330	Dbl homology (DH) domain (5);	0.000000	0.43110	D	0.000613	T	0.78553	0.4301	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.99;0.978;1.0	D;D;D	0.97110	0.958;0.93;1.0	T	0.81165	-0.1057	10	0.87932	D	0	-11.1136	18.4768	0.90795	0.0:0.0:1.0:0.0	.	336;309;224	E9PJX4;B7Z493;Q96M96	.;.;FGD4_HUMAN	L	361;309;224;131;336	ENSP00000449273:R361L;ENSP00000431323:R309L;ENSP00000394487:R224L;ENSP00000446695:R131L;ENSP00000433666:R336L	ENSP00000379089:R224L	R	+	2	0	FGD4	32642768	1.000000	0.71417	0.997000	0.53966	0.761000	0.43186	9.133000	0.94460	2.426000	0.82243	0.655000	0.94253	CGA		0.299	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241	
DDX23	9416	hgsc.bcm.edu	37	12	49237825	49237825	+	Missense_Mutation	SNP	C	C	A	rs555010780		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:49237825C>A	ENST00000308025.3	-	3	297	c.218G>T	c.(217-219)cGg>cTg	p.R73L	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	73	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTCTTTGTGCCGTCGTTCTCT	0.488																																																	0			12											314.0	262.0	280.0					12																	49237825		2203	4300	6503	47524092	SO:0001583	missense	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.218G>T	12.37:g.49237825C>A	ENSP00000310723:p.Arg73Leu		47524092	B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691797	0.68271	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.21932	1.98	5.35	5.35	0.76521	.	0.147458	0.44285	D	0.000468	T	0.35828	0.0945	L	0.36672	1.1	0.58432	D	0.999999	D	0.53745	0.962	D	0.65010	0.931	T	0.03166	-1.1065	10	0.54805	T	0.06	-0.5329	16.0486	0.80740	0.0:1.0:0.0:0.0	.	73	Q9BUQ8	DDX23_HUMAN	L	73	ENSP00000310723:R73L	ENSP00000310723:R73L	R	-	2	0	DDX23	47524092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.486000	0.60286	2.522000	0.85027	0.586000	0.80456	CGG		0.488	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818	
CNPY2	10330	hgsc.bcm.edu	37	12	56705176	56705176	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:56705176G>A	ENST00000273308.4	-	4	767	c.227C>T	c.(226-228)gCc>gTc	p.A76V	CNPY2_ENST00000551720.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.A76V|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.12_ENST00000546789.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	76	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						TGTGAGGTGGGCCTCTGAGCG	0.478																																																	0			12											122.0	119.0	120.0					12																	56705176		2203	4300	6503	54991443	SO:0001583	missense	10330			AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.227C>T	12.37:g.56705176G>A	ENSP00000273308:p.Ala76Val		54991443	B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063739	0.55432	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.38	5.38	0.77491	Saposin B (1);	0.055194	0.64402	D	0.000001	T	0.24812	0.0602	N	0.17379	0.485	0.47905	D	0.999548	B	0.26445	0.149	B	0.22386	0.039	T	0.05683	-1.0870	10	0.17369	T	0.5	-8.6163	18.277	0.90087	0.0:0.0:1.0:0.0	.	76	Q9Y2B0	CNPY2_HUMAN	V	76;76;76;24	ENSP00000446743:A76V;ENSP00000273308:A76V;ENSP00000448809:A76V;ENSP00000446784:A24V	ENSP00000273308:A76V	A	-	2	0	RP11-977G19.10;CNPY2	54991443	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.807000	0.69157	2.695000	0.91970	0.561000	0.74099	GCC		0.478	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255	
MYO1A	4640	hgsc.bcm.edu	37	12	57431361	57431361	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:57431361T>C	ENST00000442789.2	-	20	2313	c.2026A>G	c.(2026-2028)Aca>Gca	p.T676A	MYO1A_ENST00000300119.3_Missense_Mutation_p.T676A|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000544473.1_Missense_Mutation_p.T514A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	676	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AAGATCTTTGTCTTGCCAAAG	0.527																																																	0			12											272.0	283.0	279.0					12																	57431361		2203	4300	6503	55717628	SO:0001583	missense	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2026A>G	12.37:g.57431361T>C	ENSP00000393392:p.Thr676Ala		55717628	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135035	0.77662	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.90620	-2.7;-2.7;-2.7	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.059684	0.64402	D	0.000003	D	0.95576	0.8562	H	0.96269	3.795	0.53005	D	0.999967	D	0.63046	0.992	P	0.56042	0.79	D	0.96254	0.9185	10	0.87932	D	0	.	11.0233	0.47730	0.0:0.0:0.0:1.0	.	676	Q9UBC5	MYO1A_HUMAN	A	676;676;514	ENSP00000300119:T676A;ENSP00000393392:T676A;ENSP00000440514:T514A	ENSP00000300119:T676A	T	-	1	0	MYO1A	55717628	0.993000	0.37304	1.000000	0.80357	0.965000	0.64279	2.485000	0.45250	1.882000	0.54519	0.482000	0.46254	ACA		0.527	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
GRIP1	23426	hgsc.bcm.edu	37	12	66765671	66765671	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:66765671G>C	ENST00000398016.3	-	22	2727	c.2659C>G	c.(2659-2661)Cat>Gat	p.H887D	GRIP1_ENST00000359742.4_Missense_Mutation_p.H939D|GRIP1_ENST00000286445.7_Missense_Mutation_p.H924D	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGAGCCTCATGATTCAAACTC	0.527																																																	0			12											63.0	68.0	67.0					12																	66765671		2055	4198	6253	65051938	SO:0001583	missense	85329			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2659C>G	12.37:g.66765671G>C	ENSP00000381098:p.His887Asp		65051938	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.04|14.04	2.415914|2.415914	0.42817|0.42817	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.73363|.	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.092455|.	0.64402|.	D|.	0.000001|.	T|T	0.74145|0.74145	0.3678|0.3678	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B;P;B;P|.	0.40681|.	0.356;0.725;0.356;0.727|.	B;B;B;B|.	0.37267|.	0.138;0.177;0.185;0.245|.	T|T	0.68469|0.68469	-0.5400|-0.5400	9|5	.|.	.|.	.|.	-14.2165|-14.2165	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	872;939;887;924|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	D|M	887;939;924;872;831;764|738	ENSP00000381098:H887D;ENSP00000352780:H939D;ENSP00000286445:H924D;ENSP00000446047:H872D;ENSP00000446024:H831D;ENSP00000446011:H764D|.	.|.	H|I	-|-	1|3	0|3	GRIP1|GRIP1	65051938|65051938	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.284000|0.284000	0.27059|0.27059	7.459000|7.459000	0.80802|0.80802	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CAT|ATC		0.527	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
CAPS2	84698	hgsc.bcm.edu	37	12	75687098	75687098	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:75687098C>T	ENST00000409445.3	-	13	1347	c.1151G>A	c.(1150-1152)aGc>aAc	p.S384N	RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.S302N|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000393284.3_Missense_Mutation_p.S152N|CAPS2_ENST00000409004.1_5'UTR	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	384							calcium ion binding (GO:0005509)	p.S152I(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTCTTTGATGCTTTCTGGAAG	0.323																																																	1	Substitution - Missense(1)	ovary(1)	12											123.0	113.0	116.0					12																	75687098		2203	4298	6501	73973365	SO:0001583	missense	84698			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1151G>A	12.37:g.75687098C>T	ENSP00000386959:p.Ser384Asn		73973365	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747376	0.49257	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	T;T;T	0.27104	1.75;1.69;1.86	4.6	1.46	0.22682	.	0.120057	0.53938	D	0.000059	T	0.46092	0.1375	M	0.77103	2.36	0.80722	D	1	D;D;P;D	0.69078	0.997;0.993;0.929;0.989	D;D;P;P	0.67382	0.951;0.932;0.536;0.798	T	0.46148	-0.9212	10	0.66056	D	0.02	-4.1205	10.2991	0.43642	0.0:0.6753:0.251:0.0736	.	152;120;384;302	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	N	302;384;120;152	ENSP00000386977:S302N;ENSP00000386959:S384N;ENSP00000376963:S152N	ENSP00000367975:S120N	S	-	2	0	CAPS2	73973365	1.000000	0.71417	0.980000	0.43619	0.501000	0.33797	1.667000	0.37471	0.466000	0.27193	0.446000	0.29264	AGC		0.323	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2		
OSBPL8	114882	hgsc.bcm.edu	37	12	76791503	76791503	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:76791503G>T	ENST00000261183.3	-	8	1122	c.643C>A	c.(643-645)Cct>Act	p.P215T	OSBPL8_ENST00000393249.2_Missense_Mutation_p.P173T|OSBPL8_ENST00000393250.4_Missense_Mutation_p.P173T	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	215	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGCTCCAAAGGATGGAAAAGT	0.378																																																	0			12											110.0	94.0	100.0					12																	76791503		2203	4300	6503	75315634	SO:0001583	missense	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.643C>A	12.37:g.76791503G>T	ENSP00000261183:p.Pro215Thr		75315634	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111508	0.94339	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.74947	-0.89;2.45;-0.89;2.45;-0.89	5.74	5.74	0.90152	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.103332	0.64402	D	0.000002	D	0.86690	0.5993	M	0.75615	2.305	0.80722	D	1	D;P	0.67145	0.996;0.907	D;P	0.74674	0.984;0.821	D	0.87287	0.2296	10	0.87932	D	0	-16.1815	19.9326	0.97124	0.0:0.0:1.0:0.0	.	190;215	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	T	173;215;200;173;215;215;190	ENSP00000376939:P173T;ENSP00000261183:P215T;ENSP00000376940:P173T;ENSP00000450238:P215T;ENSP00000447893:P190T	ENSP00000261183:P215T	P	-	1	0	OSBPL8	75315634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.720000	0.93068	0.650000	0.86243	CCT		0.378	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841	
CEP290	80184	hgsc.bcm.edu	37	12	88474161	88474161	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:88474161T>C	ENST00000552810.1	-	38	5367	c.5024A>G	c.(5023-5025)aAc>aGc	p.N1675S	CEP290_ENST00000397838.3_Missense_Mutation_p.N735S|CEP290_ENST00000547691.2_Missense_Mutation_p.N735S|CEP290_ENST00000309041.7_Missense_Mutation_p.N1677S	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		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		0.363	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
ANO4	121601	hgsc.bcm.edu	37	12	101490422	101490422	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:101490422G>A	ENST00000392977.3	+	19	2057	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	ANO4_ENST00000550015.1_Missense_Mutation_p.G136E|ANO4_ENST00000392979.3_Missense_Mutation_p.G581E|ANO4_ENST00000299222.9_Missense_Mutation_p.G136E			Q32M45	ANO4_HUMAN	anoctamin 4	616					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTCTTCCTCGGAAGGTAAGAA	0.498										HNSCC(74;0.22)																																							0			12											92.0	83.0	86.0					12																	101490422		2203	4300	6503	100014553	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1847G>A	12.37:g.101490422G>A	ENSP00000376703:p.Gly616Glu		100014553	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	G	32	5.140087	0.94560	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	T	0.80549	0.4644	M	0.77103	2.36	0.80722	D	1	D;D;D	0.65815	0.957;0.995;0.984	P;D;D	0.70487	0.888;0.969;0.947	T	0.81228	-0.1028	10	0.62326	D	0.03	.	19.6088	0.95594	0.0:0.0:1.0:0.0	.	136;616;581	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	E	581;136;616;136	ENSP00000376705:G581E;ENSP00000299222:G136E;ENSP00000376703:G616E;ENSP00000450192:G136E	ENSP00000299222:G136E	G	+	2	0	ANO4	100014553	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.837000	0.99465	2.734000	0.93682	0.563000	0.77884	GGA		0.498	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
VPS13C	54832	hgsc.bcm.edu	37	15	62167097	62167097	+	Silent	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr15:62167097T>C	ENST00000261517.5	-	77	10465	c.10392A>G	c.(10390-10392)agA>agG	p.R3464R	VPS13C_ENST00000249837.3_Silent_p.R3421R|VPS13C_ENST00000395898.3_Silent_p.R3421R|VPS13C_ENST00000395896.4_Silent_p.R3464R|VPS13C_ENST00000558919.1_5'Flank	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.R3464S(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAAAGAGGCTTCTCACTCCAA	0.299																																																	1	Substitution - Missense(1)	ovary(1)	15											99.0	101.0	100.0					15																	62167097		2203	4300	6503	59954389	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10392A>G	15.37:g.62167097T>C			59954389		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																				0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
CHRNA3	1136	hgsc.bcm.edu	37	15	78893715	78893715	+	Silent	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr15:78893715A>G	ENST00000326828.5	-	5	1653	c.1269T>C	c.(1267-1269)tcT>tcC	p.S423S	CHRNA3_ENST00000348639.3_Silent_p.S423S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	423					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	ATTCAGAACTAGAGCTTCTCG	0.473																																																	0			15											159.0	145.0	150.0					15																	78893715		2196	4293	6489	76680770	SO:0001819	synonymous_variant	1136				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1269T>C	15.37:g.78893715A>G			76680770	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	37	CCDS10305.1																																																																																				0.473	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3		
WWC3	55841	hgsc.bcm.edu	37	X	10084546	10084546	+	Splice_Site	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chrX:10084546A>G	ENST00000380861.4	+	10	1454	c.1063A>G	c.(1063-1065)Agc>Ggc	p.S355G	WWC3_ENST00000454666.1_Splice_Site_p.S355G	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	355	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCAGTTAAAAAGGTAGGTTAC	0.403																																																	0			X											114.0	108.0	110.0					X																	10084546		2203	4300	6503	10044546	SO:0001630	splice_region_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1064+1A>G	X.37:g.10084546A>G			10044546	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787082	0.49997	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543293;ENST00000398613	T;T	0.46451	0.87;0.87	4.79	4.79	0.61399	.	0.230668	0.53938	D	0.000041	T	0.54902	0.1887	M	0.79011	2.435	0.58432	D	0.999999	P	0.51449	0.945	P	0.50440	0.641	T	0.62637	-0.6812	10	0.72032	D	0.01	-24.883	13.6327	0.62204	1.0:0.0:0.0:0.0	.	355	Q9ULE0	WWC3_HUMAN	G	355;355;19;355	ENSP00000370242:S355G;ENSP00000399584:S355G	ENSP00000370242:S355G	S	+	1	0	WWC3	10044546	1.000000	0.71417	0.150000	0.22450	0.130000	0.20726	8.499000	0.90494	1.592000	0.50018	0.474000	0.43551	AGC		0.403	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	Missense_Mutation
NRK	203447	hgsc.bcm.edu	37	X	105132356	105132356	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chrX:105132356T>C	ENST00000243300.9	+	5	625	c.322T>C	c.(322-324)Tcc>Ccc	p.S108P	NRK_ENST00000428173.2_Missense_Mutation_p.S108P|NRK_ENST00000536164.1_Missense_Mutation_p.S108P	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAACATTGTGTCCTTCTATGG	0.403										HNSCC(51;0.14)																																							0			X											112.0	92.0	98.0					X																	105132356		1903	4100	6003	105019012	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.322T>C	X.37:g.105132356T>C	ENSP00000434830:p.Ser108Pro		105019012	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	T	18.81	3.703922	0.68501	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.51071	1.8;1.8;0.72	4.95	1.98	0.26296	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.172299	0.28332	N	0.015734	T	0.44767	0.1309	L	0.31804	0.96	0.80722	D	1	D	0.53462	0.96	P	0.54815	0.761	T	0.39683	-0.9602	10	0.87932	D	0	.	7.967	0.30104	0.629:0.0:0.0:0.371	.	108	Q7Z2Y5	NRK_HUMAN	P	108	ENSP00000434830:S108P;ENSP00000438378:S108P;ENSP00000438785:S108P	ENSP00000434830:S108P	S	+	1	0	NRK	105019012	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.854000	0.55949	0.611000	0.30052	0.481000	0.45027	TCC		0.403	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
CPEB2	132864	hgsc.bcm.edu	37	4	15067925	15067925	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr4:15067925G>A	ENST00000507071.1	+	11	1778	c.1691G>A	c.(1690-1692)cGt>cAt	p.R564H	CPEB2_ENST00000442003.2_Missense_Mutation_p.R982H|CPEB2_ENST00000259997.5_Missense_Mutation_p.R572H|CPEB2_ENST00000541112.1_Missense_Mutation_p.R1001H|CPEB2_ENST00000538197.1_Missense_Mutation_p.R1009H|CPEB2_ENST00000382395.3_Missense_Mutation_p.R542H|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Missense_Mutation_p.R534H|CPEB2_ENST00000382401.3_Missense_Mutation_p.R537H|RP11-665G4.1_ENST00000502344.1_RNA			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	564					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ATCCACTCTCGTGCTGGACGT	0.493																																																	0			4											162.0	145.0	151.0					4																	15067925		2203	4300	6503	14677023	SO:0001583	missense	132864			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1691G>A	4.37:g.15067925G>A	ENSP00000424084:p.Arg564His		14677023	E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37		.	.	.	.	.	.	.	.	.	.	G	19.33	3.806883	0.70797	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391	T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.47190	1.495	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.971;1.0;1.0	D;D;D;P;D;D	0.87578	0.993;0.998;0.991;0.741;0.998;0.992	T	0.11251	-1.0595	10	0.87932	D	0	-14.8172	20.8598	0.99761	0.0:0.0:1.0:0.0	.	537;542;982;1009;534;564	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	H	1009;1001;982;564;534;542;537;572;551	ENSP00000443985:R1009H;ENSP00000437884:R1001H;ENSP00000414270:R982H;ENSP00000424084:R564H;ENSP00000334058:R534H;ENSP00000371832:R542H;ENSP00000371838:R537H;ENSP00000259997:R572H	ENSP00000259997:R572H	R	+	2	0	CPEB2	14677023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CGT		0.493	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607	
UBE2K	3093	hgsc.bcm.edu	37	4	39757308	39757308	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr4:39757308A>G	ENST00000261427.5	+	4	532	c.248A>G	c.(247-249)aAt>aGt	p.N83S	UBE2K_ENST00000503368.1_Missense_Mutation_p.N32S|UBE2K_ENST00000295963.6_Intron|UBE2K_ENST00000445950.2_Missense_Mutation_p.N83S|UBE2K_ENST00000438068.2_3'UTR	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	83					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						TGGCATCCTAATATTAGTTCC	0.338																																					NSCLC(101;689 1592 16105 29682 31745)												0			4											161.0	161.0	161.0					4																	39757308		2203	4299	6502	39433703	SO:0001583	missense	3093			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.248A>G	4.37:g.39757308A>G	ENSP00000261427:p.Asn83Ser		39433703	A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Missense_Mutation	SNP	ENST00000261427.5	37	CCDS33976.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.005931	0.93287	.	.	ENSG00000078140	ENST00000261427;ENST00000503368;ENST00000445950	T;T;T	0.56103	0.48;0.48;0.48	6.08	6.08	0.98989	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.985	D	0.89250	0.3590	10	0.87932	D	0	-14.4541	15.6338	0.76933	1.0:0.0:0.0:0.0	.	83;32;83	P61086;P61086-2;C9JGP1	UBE2K_HUMAN;.;.	S	83;32;83	ENSP00000261427:N83S;ENSP00000421203:N32S;ENSP00000390483:N83S	ENSP00000261427:N83S	N	+	2	0	UBE2K	39433703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.872000	0.92352	2.333000	0.79357	0.482000	0.46254	AAT		0.338	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339	
WDFY3	23001	hgsc.bcm.edu	37	4	85742596	85742596	+	Missense_Mutation	SNP	T	T	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr4:85742596T>A	ENST00000295888.4	-	11	1639	c.1232A>T	c.(1231-1233)tAc>tTc	p.Y411F	WDFY3_ENST00000322366.6_Missense_Mutation_p.Y411F	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	411					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.Y411S(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTCAGCCATGTAAATATTTGT	0.393																																																	1	Substitution - Missense(1)	ovary(1)	4											114.0	115.0	114.0					4																	85742596		2203	4300	6503	85961620	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1232A>T	4.37:g.85742596T>A	ENSP00000295888:p.Tyr411Phe		85961620	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419472	0.83559	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.17370	2.28;2.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.05683	-1.0870	10	0.31617	T	0.26	.	16.0204	0.80478	0.0:0.0:0.0:1.0	.	411;411	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	F	411	ENSP00000318466:Y411F;ENSP00000295888:Y411F	ENSP00000295888:Y411F	Y	-	2	0	WDFY3	85961620	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	7.642000	0.83385	2.174000	0.68829	0.533000	0.62120	TAC		0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
KIAA1109	84162	hgsc.bcm.edu	37	4	123161215	123161215	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr4:123161215C>T	ENST00000264501.4	+	29	4751	c.4378C>T	c.(4378-4380)Cct>Tct	p.P1460S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1460S|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1460S			Q2LD37	K1109_HUMAN	KIAA1109	1460					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAAAACTCATCCTTCTCAGGC	0.413																																																	0			4											94.0	89.0	91.0					4																	123161215		1863	4098	5961	123380665	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4378C>T	4.37:g.123161215C>T	ENSP00000264501:p.Pro1460Ser		123380665	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353048	0.24512	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.21932	2.57;2.57;1.98	6.05	6.05	0.98169	.	0.000000	0.44688	U	0.000432	T	0.13372	0.0324	N	0.08118	0	0.37666	D	0.922937	B;B	0.25272	0.122;0.043	B;B	0.28305	0.088;0.04	T	0.23619	-1.0183	10	0.27785	T	0.31	.	16.0133	0.80420	0.0:0.8664:0.1336:0.0	.	1459;1460	Q2LD37-2;Q2LD37	.;K1109_HUMAN	S	1460	ENSP00000264501:P1460S;ENSP00000373390:P1460S;ENSP00000389925:P1460S	ENSP00000264501:P1460S	P	+	1	0	KIAA1109	123380665	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.229000	0.42990	2.878000	0.98634	0.650000	0.86243	CCT		0.413	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
FBXW7	55294	hgsc.bcm.edu	37	4	153247208	153247208	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr4:153247208T>C	ENST00000281708.4	-	10	2823	c.1594A>G	c.(1594-1596)Acc>Gcc	p.T532A	FBXW7_ENST00000603841.1_Missense_Mutation_p.T532A|FBXW7_ENST00000296555.5_Missense_Mutation_p.T414A|FBXW7_ENST00000393956.3_Missense_Mutation_p.T356A|FBXW7_ENST00000603548.1_Missense_Mutation_p.T532A|FBXW7_ENST00000263981.5_Missense_Mutation_p.T452A	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	532					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTAGACAGGTTTCAGTCTCT	0.438			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											197.0	190.0	192.0					4																	153247208		2203	4300	6503	153466658	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1594A>G	4.37:g.153247208T>C	ENSP00000281708:p.Thr532Ala		153466658	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578043	0.45902	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.72	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.089480	0.85682	D	0.000000	T	0.37348	0.1000	N	0.05441	-0.05	0.80722	D	1	B;B;B;B	0.11235	0.0;0.004;0.0;0.001	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.11108	-1.0601	10	0.37606	T	0.19	-11.4963	13.2579	0.60089	0.0:0.0:0.1326:0.8674	.	356;532;414;452	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	A	532;414;452;356	ENSP00000281708:T532A;ENSP00000296555:T414A;ENSP00000263981:T452A;ENSP00000377528:T356A	ENSP00000263981:T452A	T	-	1	0	FBXW7	153466658	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.997000	0.88414	1.077000	0.40990	-0.323000	0.08544	ACC		0.438	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
IFT172	26160	hgsc.bcm.edu	37	2	27668234	27668234	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:27668234T>C	ENST00000260570.3	-	46	5100	c.4997A>G	c.(4996-4998)gAg>gGg	p.E1666G	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1666					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGCGCCACGCTCATCCCGAGG	0.592																																																	0			2											28.0	29.0	29.0					2																	27668234		2203	4300	6503	27521738	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4997A>G	2.37:g.27668234T>C	ENSP00000260570:p.Glu1666Gly		27521738	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996380	0.74818	.	.	ENSG00000138002	ENST00000260570	T	0.46819	0.86	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	L	0.55481	1.735	0.80722	D	1	B	0.23990	0.095	B	0.24701	0.055	T	0.40572	-0.9556	10	0.48119	T	0.1	-19.3727	12.429	0.55563	0.0:0.0:0.0:1.0	.	1666	Q9UG01	IF172_HUMAN	G	1666	ENSP00000260570:E1666G	ENSP00000260570:E1666G	E	-	2	0	IFT172	27521738	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.506000	0.81665	1.976000	0.57569	0.454000	0.30748	GAG		0.592	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
FSHR	2492	hgsc.bcm.edu	37	2	49190767	49190767	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:49190767C>A	ENST00000406846.2	-	10	1312	c.1193G>T	c.(1192-1194)aGg>aTg	p.R398M	FSHR_ENST00000346173.3_Missense_Mutation_p.R336M|FSHR_ENST00000541117.1_Missense_Mutation_p.R134M|FSHR_ENST00000304421.4_Missense_Mutation_p.R372M	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	398					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.R398M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CATAAGGAACCTGGGGACTGT	0.458									Gonadal Dysgenesis, 46 XX																																								1	Substitution - Missense(1)	lung(1)	2											129.0	127.0	128.0					2																	49190767		2203	4300	6503	49044271	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1193G>T	2.37:g.49190767C>A	ENSP00000384708:p.Arg398Met		49044271	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802515	0.70682	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98654	0.9549	M	0.93678	3.445	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	D	0.99425	1.0934	9	.	.	.	.	18.3052	0.90177	0.0:1.0:0.0:0.0	.	372;336;398	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	M	398;336;372;134	ENSP00000384708:R398M;ENSP00000333908:R336M;ENSP00000306780:R372M;ENSP00000444172:R134M	.	R	-	2	0	FSHR	49044271	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.651000	0.83577	2.801000	0.96364	0.655000	0.94253	AGG		0.458	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
USP34	9736	hgsc.bcm.edu	37	2	61436103	61436103	+	Missense_Mutation	SNP	T	T	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:61436103T>A	ENST00000398571.2	-	70	8926	c.8850A>T	c.(8848-8850)agA>agT	p.R2950S	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2950					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)			CTAATAGTATTCTGAAGGCAC	0.294																																																	0			2											75.0	74.0	74.0					2																	61436103		1813	4052	5865	61289607	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.8850A>T	2.37:g.61436103T>A	ENSP00000381577:p.Arg2950Ser		61289607	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.8|25.8	4.673781|4.673781	0.88445|0.88445	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398571	.|T	.|0.63913	.|-0.07	6.0|6.0	6.0|6.0	0.97389|0.97389	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61837|0.61837	0.2379|0.2379	L|L	0.58101|0.58101	1.795|1.795	0.53005|0.53005	D|D	0.999967|0.999967	.|B	.|0.15141	.|0.012	.|B	.|0.16289	.|0.015	T|T	0.59736|0.59736	-0.7398|-0.7398	5|10	.|0.87932	.|D	.|0	.|.	16.5044|16.5044	0.84266|0.84266	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2950	.|Q70CQ2	.|UBP34_HUMAN	Y|S	710|2798;2950	.|ENSP00000381577:R2950S	.|ENSP00000263989:R2798S	N|R	-|-	1|3	0|2	USP34|USP34	61289607|61289607	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.140000|2.140000	0.42159|0.42159	2.295000|2.295000	0.77249|0.77249	0.528000|0.528000	0.53228|0.53228	AAT|AGA		0.294	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
MERTK	10461	hgsc.bcm.edu	37	2	112687111	112687111	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:112687111C>A	ENST00000295408.4	+	2	733	c.476C>A	c.(475-477)tCc>tAc	p.S159Y	RN7SL297P_ENST00000483161.2_RNA|MERTK_ENST00000421804.2_Missense_Mutation_p.S159Y|MERTK_ENST00000409780.1_Intron			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	159	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S159F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATAATCGCTTCCTTCAGGTAT	0.338																																																	1	Substitution - Missense(1)	lung(1)	2											106.0	92.0	97.0					2																	112687111		2203	4300	6503	112403582	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.476C>A	2.37:g.112687111C>A	ENSP00000295408:p.Ser159Tyr		112403582	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436152	0.25813	.	.	ENSG00000153208	ENST00000295408;ENST00000421804	T;T	0.69435	-0.4;-0.4	4.44	2.62	0.31277	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.665962	0.11708	U	0.537240	T	0.63780	0.2540	L	0.52573	1.65	0.28488	N	0.914637	P	0.46142	0.873	P	0.49140	0.601	T	0.52373	-0.8584	10	0.19147	T	0.46	-4.2235	7.3293	0.26573	0.0:0.7867:0.0:0.2133	.	159	Q12866	MERTK_HUMAN	Y	159	ENSP00000295408:S159Y;ENSP00000389152:S159Y	ENSP00000295408:S159Y	S	+	2	0	MERTK	112403582	0.313000	0.24554	0.993000	0.49108	0.960000	0.62799	1.098000	0.31000	0.482000	0.27582	-0.259000	0.10710	TCC		0.338	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		
GLI2	2736	hgsc.bcm.edu	37	2	121742291	121742291	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:121742291T>C	ENST00000452319.1	+	12	1988	c.1928T>C	c.(1927-1929)gTc>gCc	p.V643A	GLI2_ENST00000361492.4_Missense_Mutation_p.V643A|GLI2_ENST00000314490.11_Missense_Mutation_p.V315A|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCTGCACGTCAGAGCCATC	0.687																																																	0			2											24.0	25.0	25.0					2																	121742291		2200	4297	6497	121458761	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1928T>C	2.37:g.121742291T>C	ENSP00000390436:p.Val643Ala		121458761		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132223	0.56828	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.15718	2.4;2.4;2.45	4.7	4.7	0.59300	.	0.319820	0.32952	N	0.005456	T	0.13841	0.0335	L	0.38838	1.175	0.35128	D	0.767678	B;B;B;B;B	0.27166	0.028;0.0;0.17;0.037;0.003	B;B;B;B;B	0.27170	0.008;0.001;0.046;0.077;0.002	T	0.13229	-1.0517	10	0.48119	T	0.1	.	8.9379	0.35711	0.0:0.0832:0.0:0.9168	.	643;626;298;298;315	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	A	643;643;315	ENSP00000390436:V643A;ENSP00000354586:V643A;ENSP00000312694:V315A	ENSP00000312694:V315A	V	+	2	0	GLI2	121458761	1.000000	0.71417	0.981000	0.43875	0.973000	0.67179	4.985000	0.63845	1.969000	0.57287	0.459000	0.35465	GTC		0.687	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
WDR33	55339	hgsc.bcm.edu	37	2	128477435	128477435	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:128477435G>A	ENST00000322313.4	-	16	2322	c.2164C>T	c.(2164-2166)Ccg>Tcg	p.P722S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	722	Collagen-like.				mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGCCAGGCGGGCCTTGGGGG	0.637																																																	0			2											66.0	77.0	73.0					2																	128477435		2203	4300	6503	128193905	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2164C>T	2.37:g.128477435G>A	ENSP00000325377:p.Pro722Ser		128193905	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069714	0.55539	.	.	ENSG00000136709	ENST00000322313	T	0.15718	2.4	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	L	0.48362	1.52	0.80722	D	1	P	0.37914	0.611	B	0.40256	0.324	T	0.01639	-1.1306	10	0.30078	T	0.28	-5.2875	14.0911	0.64990	0.0:0.0:0.8494:0.1506	.	722	Q9C0J8	WDR33_HUMAN	S	722	ENSP00000325377:P722S	ENSP00000325377:P722S	P	-	1	0	WDR33	128193905	1.000000	0.71417	0.953000	0.39169	0.980000	0.70556	6.233000	0.72320	2.616000	0.88540	0.585000	0.79938	CCG		0.637	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
TTN	7273	hgsc.bcm.edu	37	2	179414890	179414890	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:179414890T>C	ENST00000591111.1	-	287	86976	c.86752A>G	c.(86752-86754)Act>Gct	p.T28918A	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T21619A|TTN_ENST00000460472.2_Missense_Mutation_p.T21494A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T21686A|TTN_ENST00000589042.1_Missense_Mutation_p.T30559A|TTN_ENST00000342992.6_Missense_Mutation_p.T27991A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_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		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		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179438359	179438359	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:179438359C>A	ENST00000591111.1	-	276	67801	c.67577G>T	c.(67576-67578)aGa>aTa	p.R22526I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15227I|TTN_ENST00000460472.2_Missense_Mutation_p.R15102I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15294I|TTN_ENST00000589042.1_Missense_Mutation_p.R24167I|TTN_ENST00000342992.6_Missense_Mutation_p.R21599I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22526	Fibronectin type-III 63. {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.R15294T(1)|p.R21597T(1)|p.R21599T(1)|p.R15227T(1)|p.R15102T(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)			CCATGCCAATCTGCTGGTTTC	0.413																																																	5	Substitution - Missense(5)	lung(5)	2											278.0	274.0	276.0					2																	179438359		1935	4140	6075	179146605	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.67577G>T	2.37:g.179438359C>A	ENSP00000465570:p.Arg22526Ile		179146605	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.67	2.307771	0.40795	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.08	5.19	0.71726	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78515	0.4295	M	0.93197	3.39	0.80722	D	1	D;D;D;D	0.62365	0.991;0.991;0.991;0.983	D;D;D;P	0.64877	0.93;0.93;0.93;0.9	D	0.85046	0.0926	9	0.87932	D	0	.	15.784	0.78289	0.0:0.9343:0.0:0.0657	.	15102;15227;15294;22526	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	21599;15102;15294;15227;15100	ENSP00000343764:R21599I;ENSP00000434586:R15102I;ENSP00000340554:R15294I;ENSP00000352154:R15227I	ENSP00000340554:R15294I	R	-	2	0	TTN	179146605	1.000000	0.71417	0.894000	0.35097	0.991000	0.79684	7.818000	0.86416	1.558000	0.49541	0.655000	0.94253	AGA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MYO1B	4430	hgsc.bcm.edu	37	2	192256875	192256875	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:192256875T>C	ENST00000392318.3	+	19	2271	c.2024T>C	c.(2023-2025)gTg>gCg	p.V675A	MYO1B_ENST00000392316.1_Missense_Mutation_p.V675A|MYO1B_ENST00000339514.4_Missense_Mutation_p.V675A|MYO1B_ENST00000304164.4_Missense_Mutation_p.V675A|MYO1B_ENST00000439065.2_5'UTR	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	675	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAAATTCCCGTGGAAGAATAC	0.323																																																	0			2											66.0	73.0	70.0					2																	192256875		2203	4299	6502	191965120	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2024T>C	2.37:g.192256875T>C	ENSP00000376132:p.Val675Ala		191965120	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	6.163	0.398266	0.11696	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.71	4.57	0.56435	Myosin head, motor domain (2);	0.411684	0.25894	N	0.027618	T	0.38506	0.1043	N	0.02420	-0.555	0.39127	D	0.961786	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35724	-0.9777	10	0.18276	T	0.48	.	4.8569	0.13564	0.2838:0.0845:0.0:0.6317	.	675;675	O43795;O43795-2	MYO1B_HUMAN;.	A	675	ENSP00000341903:V675A;ENSP00000376132:V675A;ENSP00000306382:V675A;ENSP00000376130:V675A	ENSP00000306382:V675A	V	+	2	0	MYO1B	191965120	0.348000	0.24861	0.994000	0.49952	0.910000	0.53928	1.956000	0.40382	2.180000	0.69256	0.455000	0.32223	GTG		0.323	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
GTF3C3	9330	hgsc.bcm.edu	37	2	197639868	197639868	+	Silent	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:197639868G>A	ENST00000263956.3	-	13	1892	c.1803C>T	c.(1801-1803)gaC>gaT	p.D601D		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	601					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.D601E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGACTCTTGGTCATTGCTGT	0.348																																																	1	Substitution - Missense(1)	ovary(1)	2											120.0	111.0	114.0					2																	197639868		2203	4300	6503	197348113	SO:0001819	synonymous_variant	9330			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1803C>T	2.37:g.197639868G>A			197348113	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	CCDS2316.1																																																																																				0.348	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
TRIP12	9320	hgsc.bcm.edu	37	2	230652244	230652244	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:230652244C>A	ENST00000283943.5	-	32	4925	c.4747G>T	c.(4747-4749)Gca>Tca	p.A1583S	TRIP12_ENST00000389044.4_Missense_Mutation_p.A1631S|TRIP12_ENST00000389045.3_Missense_Mutation_p.A1313S	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1583					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.A1583S(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AATCTAGGTGCAACTCTGCTA	0.343																																																	1	Substitution - Missense(1)	breast(1)	2											145.0	143.0	143.0					2																	230652244		2203	4300	6503	230360488	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4747G>T	2.37:g.230652244C>A	ENSP00000283943:p.Ala1583Ser		230360488	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101583	0.76983	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.42513	0.97;0.97;0.97	5.38	4.5	0.54988	HECT (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	N	0.19112	0.55	0.80722	D	1	B;D;B	0.58620	0.243;0.983;0.243	B;P;B	0.59487	0.066;0.858;0.066	T	0.32322	-0.9911	10	0.33940	T	0.23	.	13.9679	0.64221	0.0:0.9269:0.0:0.0731	.	1313;1631;1583	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	S	1583;1313;1631	ENSP00000283943:A1583S;ENSP00000373697:A1313S;ENSP00000373696:A1631S	ENSP00000283943:A1583S	A	-	1	0	TRIP12	230360488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	1.257000	0.44085	0.557000	0.71058	GCA		0.343	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
MLLT3	4300	hgsc.bcm.edu	37	9	20620740	20620740	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr9:20620740C>T	ENST00000380338.4	-	2	392	c.106G>A	c.(106-108)Gta>Ata	p.V36I	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.V33I	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	36	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.V36L(2)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GGACCGCGTACGAACACCATC	0.577			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	2	Substitution - Missense(2)	lung(2)	9											137.0	130.0	133.0					9																	20620740		2203	4300	6503	20610740	SO:0001583	missense	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.106G>A	9.37:g.20620740C>T	ENSP00000369695:p.Val36Ile		20610740	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444145	0.83993	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.78349	0.4269	M	0.61703	1.905	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.989	D;D;P	0.85130	0.961;0.997;0.891	T	0.79960	-0.1583	9	0.87932	D	0	-5.0283	18.9559	0.92658	0.0:1.0:0.0:0.0	.	36;33;36	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	I	36;33;75	.	ENSP00000369695:V36I	V	-	1	0	MLLT3	20610740	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.808000	0.86044	2.551000	0.86045	0.561000	0.74099	GTA		0.577	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529	
FOCAD	54914	hgsc.bcm.edu	37	9	20923750	20923750	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr9:20923750T>C	ENST00000380249.1	+	27	3308	c.2944T>C	c.(2944-2946)Tct>Cct	p.S982P	FOCAD_ENST00000338382.6_Missense_Mutation_p.S982P|FOCAD_ENST00000605086.1_Missense_Mutation_p.S418P	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	982						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CTCCTCAGACTCTGACGGGCT	0.498																																																	0			9											73.0	60.0	65.0					9																	20923750		2203	4300	6503	20913750	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2944T>C	9.37:g.20923750T>C	ENSP00000369599:p.Ser982Pro		20913750	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970968	0.34754	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.07908	3.15;3.15	5.4	1.49	0.22878	Armadillo-type fold (1);	0.469692	0.23345	N	0.049189	T	0.05686	0.0149	L	0.40543	1.245	0.34950	D	0.751124	P	0.38335	0.627	B	0.32022	0.139	T	0.37056	-0.9722	10	0.48119	T	0.1	-14.6803	5.5734	0.17210	0.5281:0.0:0.1199:0.352	.	982	Q5VW36	K1797_HUMAN	P	982	ENSP00000369599:S982P;ENSP00000344307:S982P	ENSP00000344307:S982P	S	+	1	0	KIAA1797	20913750	0.007000	0.16637	0.297000	0.24988	0.670000	0.39368	0.367000	0.20382	0.356000	0.24157	0.533000	0.62120	TCT		0.498	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
TOPORS	10210	hgsc.bcm.edu	37	9	32542101	32542101	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr9:32542101C>T	ENST00000360538.2	-	3	2538	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	TOPORS_ENST00000379858.1_Missense_Mutation_p.E743K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	808	Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E808*(1)|p.E808K(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGAGCCACTTCGTTAGTACCC	0.423																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	ovary(1)|large_intestine(1)	9	GRCh37	CM081845	TOPORS	M							124.0	120.0	121.0					9																	32542101		2203	4300	6503	32532101	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2422G>A	9.37:g.32542101C>T	ENSP00000353735:p.Glu808Lys		32532101	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692613	0.30052	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.13778	2.56;2.57	5.91	3.98	0.46160	.	0.123059	0.37348	N	0.002126	T	0.05914	0.0154	N	0.04508	-0.205	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.27806	-1.0063	10	0.35671	T	0.21	-10.6127	8.2296	0.31590	0.1458:0.7289:0.0:0.1252	.	808	Q9NS56	TOPRS_HUMAN	K	808;743	ENSP00000353735:E808K;ENSP00000369187:E743K	ENSP00000353735:E808K	E	-	1	0	TOPORS	32532101	0.009000	0.17119	0.870000	0.34147	0.561000	0.35649	0.740000	0.26188	2.803000	0.96430	0.650000	0.86243	GAA		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
TRIM14	9830	hgsc.bcm.edu	37	9	100857228	100857228	+	Silent	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr9:100857228G>A	ENST00000341469.2	-	4	630	c.621C>T	c.(619-621)ccC>ccT	p.P207P	TRIM14_ENST00000342043.3_Silent_p.P207P|TRIM14_ENST00000538344.1_5'Flank|TRIM14_ENST00000375098.3_Silent_p.P207P	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	207					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P207P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGCTCTTGACGGGCTCAAAGG	0.587																																					Colon(14;460 597 13826 51781)												1	Substitution - coding silent(1)	lung(1)	9											103.0	94.0	97.0					9																	100857228		2203	4300	6503	99897049	SO:0001819	synonymous_variant	9830			AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.621C>T	9.37:g.100857228G>A			99897049	A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Silent	SNP	ENST00000341469.2	37	CCDS6734.1																																																																																				0.587	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788	
PRPF4	9128	hgsc.bcm.edu	37	9	116044949	116044949	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr9:116044949T>C	ENST00000374198.4	+	4	521	c.419T>C	c.(418-420)gTc>gCc	p.V140A	PRPF4_ENST00000488937.1_3'UTR|PRPF4_ENST00000374199.4_Missense_Mutation_p.V139A	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	140					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CTCTCAGTTGTCGGTACTGAT	0.308																																																	0			9											79.0	75.0	76.0					9																	116044949		2203	4300	6503	115084770	SO:0001583	missense	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.419T>C	9.37:g.116044949T>C	ENSP00000363313:p.Val140Ala		115084770	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.040029	0.55003	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61980	0.06;0.11	5.9	5.9	0.94986	Splicing factor motif (1);	0.277862	0.35466	N	0.003181	T	0.60038	0.2238	L	0.56769	1.78	0.58432	D	0.999995	B;B	0.28439	0.212;0.212	B;B	0.27380	0.079;0.079	T	0.58064	-0.7702	10	0.39692	T	0.17	.	15.5056	0.75739	0.0:0.0:0.0:1.0	.	155;140	Q59EL4;O43172	.;PRP4_HUMAN	A	139;140	ENSP00000363315:V139A;ENSP00000363313:V140A	ENSP00000363313:V140A	V	+	2	0	PRPF4	115084770	1.000000	0.71417	0.441000	0.26858	0.964000	0.63967	7.064000	0.76721	2.254000	0.74563	0.460000	0.39030	GTC		0.308	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697	
TNFSF8	944	hgsc.bcm.edu	37	9	117666529	117666529	+	Silent	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr9:117666529C>T	ENST00000223795.2	-	4	500	c.387G>A	c.(385-387)ggG>ggA	p.G129G	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	129					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)	p.G129G(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TCACCAGATTCCCATCCTGAT	0.403																																																	1	Substitution - coding silent(1)	lung(1)	9											150.0	145.0	146.0					9																	117666529		2203	4300	6503	116706350	SO:0001819	synonymous_variant	944			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.387G>A	9.37:g.117666529C>T			116706350	O43404	Silent	SNP	ENST00000223795.2	37	CCDS6810.1																																																																																				0.403	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1		
XPO4	64328	hgsc.bcm.edu	37	13	21357984	21357984	+	Silent	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr13:21357984A>G	ENST00000255305.6	-	23	3404	c.3333T>C	c.(3331-3333)gaT>gaC	p.D1111D	XPO4_ENST00000400602.2_Silent_p.D1111D			Q9C0E2	XPO4_HUMAN	exportin 4	1111					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGTTGAAGGCATCTGCTAATC	0.408																																																	0			13											144.0	138.0	140.0					13																	21357984		2036	4189	6225	20255984	SO:0001819	synonymous_variant	64328			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3333T>C	13.37:g.21357984A>G			20255984	Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	CCDS41872.1																																																																																				0.408	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459	
KATNAL1	84056	hgsc.bcm.edu	37	13	30857794	30857794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr13:30857794G>A	ENST00000380615.3	-	2	288	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	RNU6-64P_ENST00000517119.1_RNA|KATNAL1_ENST00000380617.3_Nonsense_Mutation_p.Q41*	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CTGACTGACTGGCAATGTCTC	0.403																																																	0			13											248.0	222.0	231.0					13																	30857794		2203	4300	6503	29755794	SO:0001587	stop_gained	84056			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.121C>T	13.37:g.30857794G>A	ENSP00000369989:p.Gln41*		29755794		Nonsense_Mutation	SNP	ENST00000380615.3	37	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	G	37	6.157617	0.97334	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	.	.	.	5.52	5.52	0.82312	.	0.117718	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-20.3559	19.7975	0.96491	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000369989:Q41X	Q	-	1	0	KATNAL1	29755794	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.505000	0.81655	2.762000	0.94881	0.591000	0.81541	CAG		0.403	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116	
ALG11	440138	hgsc.bcm.edu	37	13	52593265	52593265	+	Silent	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr13:52593265A>G	ENST00000521508.1	+	2	266	c.261A>G	c.(259-261)agA>agG	p.R87R	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	87					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTGCTTTAAGAGCCCTGCAGA	0.323																																																	0			13											58.0	55.0	56.0					13																	52593265		2203	4300	6503	51491266	SO:0001819	synonymous_variant	440138			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.261A>G	13.37:g.52593265A>G			51491266	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Silent	SNP	ENST00000521508.1	37	CCDS31977.1																																																																																				0.323	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127	
DIAPH3	81624	hgsc.bcm.edu	37	13	60413500	60413500	+	Silent	SNP	G	G	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr13:60413500G>T	ENST00000400324.4	-	23	3040	c.2820C>A	c.(2818-2820)ccC>ccA	p.P940P	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.P894P|DIAPH3_ENST00000377908.2_Silent_p.P929P|DIAPH3_ENST00000400319.1_Silent_p.P870P|DIAPH3_ENST00000267215.4_Silent_p.P940P|DIAPH3_ENST00000400330.1_Silent_p.P940P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	940	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CCTCAGGAGGGGGAAAGGTTT	0.383																																																	0			13											87.0	82.0	84.0					13																	60413500		1859	4096	5955	59311501	SO:0001819	synonymous_variant	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2820C>A	13.37:g.60413500G>T			59311501	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	CCDS41898.1																																																																																				0.383	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
CCDC168	643677	hgsc.bcm.edu	37	13	103386999	103386999	+	Missense_Mutation	SNP	C	C	T	rs184139384		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr13:103386999C>T	ENST00000322527.2	-	1	2160	c.2161G>A	c.(2161-2163)Gtt>Att	p.V721I		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	721								p.V721I(1)									ATATCACCAACGACGGACTCT	0.353																																																	1	Substitution - Missense(1)	central_nervous_system(1)	13											138.0	98.0	110.0					13																	103386999		692	1591	2283	102185000	SO:0001583	missense	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.2161G>A	13.37:g.103386999C>T	ENSP00000320232:p.Val721Ile		102185000	Q8N800	Missense_Mutation	SNP	ENST00000322527.2	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.905	0.168221	0.09339	.	.	ENSG00000175820	ENST00000322527	T	0.03663	3.85	3.77	0.591	0.17465	.	2.875000	0.01651	N	0.024567	T	0.02533	0.0077	L	0.27053	0.805	0.09310	N	1	P	0.42757	0.789	B	0.29077	0.098	T	0.41413	-0.9510	10	0.28530	T	0.3	.	4.1284	0.10138	0.2224:0.6055:0.0:0.1721	.	721	Q8NDH2	CC168_HUMAN	I	721	ENSP00000320232:V721I	ENSP00000320232:V721I	V	-	1	0	CCDC168	102185000	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.902000	0.04088	0.073000	0.16731	0.563000	0.77884	GTT		0.353	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001146197	
TCF7L2	6934	hgsc.bcm.edu	37	10	114710585	114710585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr10:114710585G>T	ENST00000355995.4	+	1	577	c.70G>T	c.(70-72)Gag>Tag	p.E24*	TCF7L2_ENST00000536810.1_Nonsense_Mutation_p.E24*|TCF7L2_ENST00000543371.1_Nonsense_Mutation_p.E24*|TCF7L2_ENST00000369395.1_Nonsense_Mutation_p.E24*|TCF7L2_ENST00000349937.2_Nonsense_Mutation_p.E24*|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000369397.4_Nonsense_Mutation_p.E24*|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000355717.4_Nonsense_Mutation_p.E24*|TCF7L2_ENST00000538897.1_Nonsense_Mutation_p.E24*|TCF7L2_ENST00000534894.1_Nonsense_Mutation_p.E24*|TCF7L2_ENST00000545257.1_Nonsense_Mutation_p.E24*|TCF7L2_ENST00000352065.5_Nonsense_Mutation_p.E24*			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	24	CTNNB1-binding. {ECO:0000250}.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTTCAAAGACGAGGGCGAACA	0.493			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0			10											41.0	40.0	40.0					10																	114710585		2203	4300	6503	114700575	SO:0001587	stop_gained	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.70G>T	10.37:g.114710585G>T	ENSP00000348274:p.Glu24*		114700575	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Nonsense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	G	41	8.779961	0.98952	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395	.	.	.	3.71	2.79	0.32731	.	0.086790	0.44902	D	0.000410	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.6672	10.5252	0.44943	0.0993:0.0:0.9007:0.0	.	.	.	.	X	24	.	ENSP00000298692:E24X	E	+	1	0	TCF7L2	114700575	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.761000	0.91691	0.552000	0.29026	0.460000	0.39030	GAG		0.493	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
PLEKHG4B	153478	hgsc.bcm.edu	37	5	174192	174192	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:174192C>T	ENST00000283426.6	+	16	3363	c.3313C>T	c.(3313-3315)Cgg>Tgg	p.R1105W		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1105							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GATCCTGTGGCGGCAGGCACT	0.632																																																	0			5											32.0	24.0	27.0					5																	174192		2202	4298	6500	227192	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3313C>T	5.37:g.174192C>T	ENSP00000283426:p.Arg1105Trp		227192		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	C	8.661	0.900514	0.17686	.	.	ENSG00000153404	ENST00000283426	T	0.12465	2.68	3.38	-2.21	0.06973	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	.	.	.	.	T	0.16041	0.0386	L	0.46741	1.465	0.32002	N	0.603189	D	0.59767	0.986	P	0.51701	0.677	T	0.27502	-1.0072	9	0.87932	D	0	.	5.7095	0.17927	0.3002:0.5017:0.0:0.1981	.	1105	Q96PX9	PKH4B_HUMAN	W	1105	ENSP00000283426:R1105W	ENSP00000283426:R1105W	R	+	1	2	PLEKHG4B	227192	0.310000	0.24527	0.763000	0.31416	0.009000	0.06853	0.199000	0.17237	-0.737000	0.04824	-2.051000	0.00406	CGG		0.632	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
DNAH5	1767	hgsc.bcm.edu	37	5	13864592	13864592	+	Missense_Mutation	SNP	C	C	A	rs143567667	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:13864592C>A	ENST00000265104.4	-	28	4614	c.4510G>T	c.(4510-4512)Ggg>Tgg	p.G1504W	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1504	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGACTGTGCCCGGTGAGGGTG	0.458									Kartagener syndrome																																								0			5											65.0	65.0	65.0					5																	13864592		2203	4300	6503	13917592	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4510G>T	5.37:g.13864592C>A	ENSP00000265104:p.Gly1504Trp		13917592	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166362	0.57476	.	.	ENSG00000039139	ENST00000265104	T	0.64618	-0.11	5.32	5.32	0.75619	Dynein heavy chain, domain-2 (1);	0.054301	0.64402	D	0.000001	D	0.86871	0.6037	H	0.96662	3.86	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91312	0.5075	10	0.87932	D	0	.	19.0581	0.93074	0.0:1.0:0.0:0.0	.	1504	Q8TE73	DYH5_HUMAN	W	1504	ENSP00000265104:G1504W	ENSP00000265104:G1504W	G	-	1	0	DNAH5	13917592	1.000000	0.71417	0.792000	0.32020	0.100000	0.18952	7.365000	0.79537	2.488000	0.83962	0.632000	0.83419	GGG		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
TRIO	7204	hgsc.bcm.edu	37	5	14472720	14472720	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:14472720G>C	ENST00000344204.4	+	39	5956	c.5932G>C	c.(5932-5934)Gtg>Ctg	p.V1978L	TRIO_ENST00000537187.1_Missense_Mutation_p.V1978L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1978	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.		V -> M (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V1978M(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAAGAACTAGTGGAGACAGA	0.393																																																	1	Substitution - Missense(1)	skin(1)	5											201.0	175.0	184.0					5																	14472720		2203	4300	6503	14525720	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5932G>C	5.37:g.14472720G>C	ENSP00000339299:p.Val1978Leu		14525720	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069048	0.55539	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T;T	0.62232	0.04;0.04;0.08	5.38	5.38	0.77491	Dbl homology (DH) domain (5);	0.064020	0.64402	D	0.000007	T	0.44726	0.1307	N	0.20845	0.615	0.51233	D	0.99991	P;B	0.39094	0.659;0.274	B;B	0.32624	0.14;0.149	T	0.43212	-0.9405	10	0.10377	T	0.69	.	19.1549	0.93506	0.0:0.0:1.0:0.0	.	1978;1978	O75962-5;O75962	.;TRIO_HUMAN	L	1978;1978;1665;58	ENSP00000339299:V1978L;ENSP00000446348:V1978L;ENSP00000426342:V1665L	ENSP00000339299:V1978L	V	+	1	0	TRIO	14525720	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.968000	0.87980	2.529000	0.85273	0.655000	0.94253	GTG		0.393	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
C5orf42	65250	hgsc.bcm.edu	37	5	37169591	37169591	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:37169591A>G	ENST00000508244.1	-	33	6628	c.6535T>C	c.(6535-6537)Tct>Cct	p.S2179P	C5orf42_ENST00000425232.2_Missense_Mutation_p.S2179P|C5orf42_ENST00000274258.7_Missense_Mutation_p.S1059P			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2179						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAGTTTTGAGATGATGGAATT	0.413																																																	0			5											75.0	77.0	76.0					5																	37169591		2203	4300	6503	37205348	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6535T>C	5.37:g.37169591A>G	ENSP00000421690:p.Ser2179Pro		37205348	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216443	0.39201	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.25414	1.81;1.81;1.8;1.8	5.53	1.15	0.20763	.	0.528900	0.18498	N	0.139460	T	0.17577	0.0422	L	0.36672	1.1	0.09310	N	1	B;B	0.24186	0.058;0.099	B;B	0.26202	0.013;0.067	T	0.16719	-1.0393	10	0.51188	T	0.08	.	5.6908	0.17829	0.6638:0.1408:0.1954:0.0	.	2179;1059	E9PH94;Q9H799	.;CE042_HUMAN	P	2179;2179;1059;1227;1059	ENSP00000421690:S2179P;ENSP00000389014:S2179P;ENSP00000274258:S1059P;ENSP00000424223:S1227P	ENSP00000274258:S1059P	S	-	1	0	C5orf42	37205348	0.033000	0.19621	0.788000	0.31933	0.184000	0.23303	0.423000	0.21313	0.878000	0.35920	0.533000	0.62120	TCT		0.413	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
OSMR	9180	hgsc.bcm.edu	37	5	38932601	38932601	+	Silent	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:38932601T>C	ENST00000274276.3	+	17	2733	c.2331T>C	c.(2329-2331)ccT>ccC	p.P777P		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	777					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCCCTGACCCTTACAAGAGCA	0.403																																																	0			5											109.0	100.0	103.0					5																	38932601		2203	4300	6503	38968358	SO:0001819	synonymous_variant	9180			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2331T>C	5.37:g.38932601T>C			38968358	Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	CCDS3928.1																																																																																				0.403	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	
MROH2B	133558	hgsc.bcm.edu	37	5	41008757	41008757	+	Missense_Mutation	SNP	G	G	A	rs369303264		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:41008757G>A	ENST00000399564.4	-	33	4009	c.3559C>T	c.(3559-3561)Cgg>Tgg	p.R1187W	MROH2B_ENST00000506092.2_Missense_Mutation_p.R742W	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1187																	ATCACATGCCGCCTATGGCTC	0.562																																																	0			5						G	TRP/ARG	2,4130		0,2,2064	84.0	86.0	85.0		3559	4.0	0.1	5		85	0,8414		0,0,4207	no	missense	HEATR7B2	NM_173489.4	101	0,2,6271	AA,AG,GG		0.0,0.0484,0.0159	probably-damaging	1187/1586	41008757	2,12544	2066	4207	6273	41044514	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3559C>T	5.37:g.41008757G>A	ENSP00000382476:p.Arg1187Trp		41044514	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963691	0.53507	4.84E-4	0.0	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.01455	4.87;5.11	5.97	4.02	0.46733	Armadillo-type fold (1);	0.104180	0.41605	D	0.000846	T	0.02807	0.0084	N	0.04508	-0.205	0.09310	N	0.999995	D	0.89917	1.0	D	0.77004	0.989	T	0.51826	-0.8656	10	0.49607	T	0.09	.	10.6622	0.45708	0.0:0.0:0.5792:0.4208	.	1187	Q7Z745	HTRB2_HUMAN	W	742;892;1187	ENSP00000441504:R742W;ENSP00000382476:R1187W	ENSP00000296803:R892W	R	-	1	2	HEATR7B2	41044514	0.182000	0.23173	0.106000	0.21319	0.566000	0.35808	1.312000	0.33574	1.512000	0.48834	0.561000	0.74099	CGG		0.562	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
CKMT2	1160	hgsc.bcm.edu	37	5	80550909	80550909	+	Missense_Mutation	SNP	G	G	A	rs368812686		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:80550909G>A	ENST00000424301.2	+	6	783	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.R182Q|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.R182Q|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	182	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GCCTGCACCCGGGCCGAGCGA	0.652																																																	0			5						G	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	52.0	53.0		545,545,545	5.8	0.3	5		53	0,8600		0,0,4300	no	missense,missense,missense	CKMT2	NM_001099735.1,NM_001099736.1,NM_001825.2	43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	182/420,182/420,182/420	80550909	1,13005	2203	4300	6503	80586665	SO:0001583	missense	1160				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.545G>A	5.37:g.80550909G>A	ENSP00000404203:p.Arg182Gln		80586665	Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276964	0.80580	2.27E-4	0.0	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.11930	2.73;2.73;2.73	5.8	5.8	0.92144	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51419	-0.8708	10	0.59425	D	0.04	-30.6222	20.0693	0.97712	0.0:0.0:1.0:0.0	.	182	P17540	KCRS_HUMAN	Q	182	ENSP00000254035:R182Q;ENSP00000410289:R182Q;ENSP00000404203:R182Q	ENSP00000254035:R182Q	R	+	2	0	CKMT2	80586665	0.999000	0.42202	0.348000	0.25681	0.015000	0.08874	9.476000	0.97823	2.758000	0.94735	0.563000	0.77884	CGG		0.652	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825	
APC	324	hgsc.bcm.edu	37	5	112175448	112175448	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:112175448G>A	ENST00000457016.1	+	16	4537	c.4157G>A	c.(4156-4158)aGa>aAa	p.R1386K	APC_ENST00000508376.2_Missense_Mutation_p.R1386K|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.R1386K			P25054	APC_HUMAN	adenomatous polyposis coli	1386	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.R1386>R*(1)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGTTTAGCAGATGTACTTCT	0.458		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	4	Deletion - Frameshift(2)|Unknown(1)|Complex - insertion inframe(1)	large_intestine(2)|soft_tissue(1)|skin(1)	5											103.0	97.0	99.0					5																	112175448		2202	4300	6502	112203347	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4157G>A	5.37:g.112175448G>A	ENSP00000413133:p.Arg1386Lys		112203347	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837438	0.91117	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.82526	-1.62;-1.62;-1.62	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	L	0.58810	1.83	0.53005	D	0.999964	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.87630	0.2515	9	.	.	.	-26.0092	20.4898	0.99202	0.0:0.0:1.0:0.0	.	1388;1386	Q4LE70;P25054	.;APC_HUMAN	K	1386	ENSP00000413133:R1386K;ENSP00000257430:R1386K;ENSP00000427089:R1386K	.	R	+	2	0	APC	112203347	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	AGA		0.458	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ADAMTS19	171019	hgsc.bcm.edu	37	5	129019933	129019933	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:129019933A>G	ENST00000274487.4	+	18	2912	c.2767A>G	c.(2767-2769)Agc>Ggc	p.S923G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	923	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACACACACAAGCTGGGAAGA	0.408																																																	0			5											86.0	83.0	84.0					5																	129019933		2203	4300	6503	129047832	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.2767A>G	5.37:g.129019933A>G	ENSP00000274487:p.Ser923Gly		129047832		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	3.758	-0.050103	0.07407	.	.	ENSG00000145808	ENST00000274487	T	0.61510	0.1	4.56	3.69	0.42338	.	0.220019	0.39020	N	0.001494	T	0.34454	0.0898	N	0.11106	0.095	0.26174	N	0.979826	B	0.06786	0.001	B	0.01281	0.0	T	0.13575	-1.0504	9	.	.	.	.	11.2452	0.48993	0.1604:0.0:0.8396:0.0	.	923	Q8TE59	ATS19_HUMAN	G	923	ENSP00000274487:S923G	.	S	+	1	0	ADAMTS19	129047832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.732000	0.47352	1.498000	0.48600	-0.248000	0.11899	AGC		0.408	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
MYOT	9499	hgsc.bcm.edu	37	5	137217668	137217668	+	Missense_Mutation	SNP	A	A	T			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:137217668A>T	ENST00000239926.4	+	6	1064	c.690A>T	c.(688-690)agA>agT	p.R230S	MYOT_ENST00000421631.2_Missense_Mutation_p.R46S|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Missense_Mutation_p.R115S|RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	230	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTAGAAGTAGATCAACCTCAA	0.343																																																	0			5											96.0	95.0	95.0					5																	137217668		2203	4300	6503	137245567	SO:0001583	missense	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.690A>T	5.37:g.137217668A>T	ENSP00000239926:p.Arg230Ser		137245567	A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707835	0.68615	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.69435	-0.35;-0.29;-0.4	5.61	3.24	0.37175	.	0.138225	0.50627	D	0.000114	T	0.48205	0.1487	N	0.24115	0.695	0.40639	D	0.981927	P	0.52842	0.956	B	0.40940	0.344	T	0.47749	-0.9093	10	0.42905	T	0.14	.	8.7386	0.34543	0.7885:0.0:0.2115:0.0	.	230	Q9UBF9	MYOTI_HUMAN	S	230;46;115	ENSP00000239926:R230S;ENSP00000391185:R46S;ENSP00000426281:R115S	ENSP00000239926:R230S	R	+	3	2	MYOT	137245567	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.995000	0.29706	0.954000	0.37851	0.482000	0.46254	AGA		0.343	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	
ABLIM3	22885	hgsc.bcm.edu	37	5	148627394	148627394	+	Missense_Mutation	SNP	G	G	A	rs373620710		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:148627394G>A	ENST00000506113.1	+	17	2083	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q	ABLIM3_ENST00000356541.3_Missense_Mutation_p.R423Q|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R423Q|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R20Q|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R501Q|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R534Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R439Q|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	534					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAGGCCCGGTCGAGCTCC	0.557																																																	0			5											41.0	45.0	44.0					5																	148627394		2203	4300	6503	148607587	SO:0001583	missense	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1601G>A	5.37:g.148627394G>A	ENSP00000425394:p.Arg534Gln		148607587	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531892	0.85706	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	N	0.25485	0.75	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;P	0.83275	0.996;0.984;0.982;0.9	T	0.51419	-0.8708	10	0.59425	D	0.04	.	19.6415	0.95760	0.0:0.0:1.0:0.0	.	20;439;423;534	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	Q	439;423;534;534;423;501;20;19	ENSP00000315841:R439Q;ENSP00000348938:R423Q;ENSP00000310309:R534Q;ENSP00000425394:R534Q;ENSP00000421183:R423Q;ENSP00000420855:R501Q;ENSP00000430150:R20Q	ENSP00000310309:R534Q	R	+	2	0	ABLIM3	148607587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.758000	0.91663	2.651000	0.90000	0.561000	0.74099	CGG		0.557	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
LARP1	23367	hgsc.bcm.edu	37	5	154174737	154174737	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:154174737A>G	ENST00000336314.4	+	8	1028	c.1004A>G	c.(1003-1005)gAa>gGa	p.E335G		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	412					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCACTTAGTGAATACTACTTC	0.463																																																	0			5											152.0	137.0	142.0					5																	154174737		2203	4300	6503	154154930	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1004A>G	5.37:g.154174737A>G	ENSP00000336721:p.Glu335Gly		154154930	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.303886|5.303886	0.95601|0.95601	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742|ENST00000518194	T;T;T;T;T|.	0.69926|.	-0.44;-0.44;-0.44;-0.44;-0.44|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.90998|.	0.7169|.	H|H	0.98738|0.98738	4.315|4.315	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|.	0.94480|.	0.7692|.	10|.	0.87932|.	D|.	0|.	-20.253|-20.253	16.6288|16.6288	0.85011|0.85011	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	412;335|.	Q6PKG0;Q6PKG0-3|.	LARP1_HUMAN;.|.	G|W	335;412;207;120;19|147	ENSP00000336721:E335G;ENSP00000428589:E412G;ENSP00000429904:E207G;ENSP00000430438:E120G;ENSP00000431072:E19G|.	ENSP00000336721:E335G|.	E|X	+|+	2|3	0|0	LARP1|LARP1	154154930|154154930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	9.262000|9.262000	0.95591|0.95591	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.463	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
FGFR2	2263	hgsc.bcm.edu	37	10	123274629	123274629	+	Splice_Site	SNP	T	T	C			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr10:123274629T>C	ENST00000358487.5	-	9	1560		c.e9+1		FGFR2_ENST00000369056.1_Splice_Site|FGFR2_ENST00000490349.1_5'Flank|FGFR2_ENST00000457416.2_Splice_Site|FGFR2_ENST00000357555.5_Splice_Site|FGFR2_ENST00000360144.3_Splice_Site|FGFR2_ENST00000369061.4_Splice_Site|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000369059.1_Splice_Site|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000478859.1_Splice_Site|FGFR2_ENST00000351936.6_Intron|FGFR2_ENST00000346997.2_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.?(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TTATCTACTTTCTGTTACCTG	0.507		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	1	Unknown(1)	endometrium(1)	10											84.0	90.0	88.0					10																	123274629		2203	4300	6503	123264619	SO:0001630	splice_region_variant	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1287+1A>G	10.37:g.123274629T>C			123264619	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Splice_Site	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999467	0.74818	.	.	ENSG00000066468	ENST00000357555;ENST00000369061;ENST00000358487;ENST00000369059;ENST00000429361;ENST00000457416;ENST00000360144;ENST00000369056;ENST00000369058	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1095	0.81250	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FGFR2	123264619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.621000	0.83083	2.205000	0.71048	0.533000	0.62120	.		0.507	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	Intron
ARHGEF11	9826	hgsc.bcm.edu	37	1	156933315	156933317	+	In_Frame_Del	DEL	GTT	GTT	-	rs150882302	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	GTT	GTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:156933315_156933317delGTT	ENST00000361409.2	-	11	1655_1657	c.913_915delAAC	c.(913-915)aacdel	p.N305del	ARHGEF11_ENST00000368194.3_In_Frame_Del_p.N345del	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	305					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N345N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGTTACCTCGTTGTTGAAATAA	0.433																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	1																																								155199941	SO:0001651	inframe_deletion	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.913_915delAAC	1.37:g.156933318_156933320delGTT	ENSP00000354644:p.Asn305del		155199939	D3DVD0|Q5VY40|Q6PFW2	In_Frame_Del	DEL	ENST00000361409.2	37	CCDS1162.1																																																																																				0.433	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
PRRC2C	23215	hgsc.bcm.edu	37	1	171511149	171511149	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr1:171511149delA	ENST00000338920.4	+	16	4775	c.4538delA	c.(4537-4539)gaafs	p.E1513fs	PRRC2C_ENST00000367742.3_Frame_Shift_Del_p.E1515fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.E1515fs|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.E1513fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1513					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GAGAGGGATGAAAAAAAAAAT	0.388																																																	0			1											59.0	63.0	62.0					1																	171511149		2203	4300	6503	169777773	SO:0001589	frameshift_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4538delA	1.37:g.171511149delA	ENSP00000343629:p.Glu1513fs		169777773	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Del	DEL	ENST00000338920.4	37	CCDS1296.2																																																																																				0.388	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
SCTR	6344	hgsc.bcm.edu	37	2	120194651	120194652	+	IGR	INS	-	-	GTGTGC	rs3217464|rs201433053|rs201077606	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:120194651_120194652insGTGTGC	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_In_Frame_Ins_p.82_82T>SVP|TMEM37_ENST00000306406.4_In_Frame_Ins_p.70_70T>SVP	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.T70>SVP(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CACCAACCAGACGATCTGCTTC	0.668														4489	0.896366	0.9705	0.8386	5008	,	,		15646	0.8919		0.8748	False		,,,				2504	0.864																1	Complex - insertion inframe(1)	ovary(1)	2								4023,213		1924,175,19						3.4	0.6		dbSNP_126	56	6958,1218		3018,922,148	no	coding	TMEM37	NM_183240.2		4942,1097,167	A1A1,A1R,RR		14.8973,5.0283,11.5292				10981,1431				119911122	SO:0001628	intergenic_variant	140738				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194651_120194652insGTGTGC			119911121	Q12961|Q13213|Q53T00	In_Frame_Ins	INS	ENST00000019103.5	37	CCDS2127.1																																																																																				0.668	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		
TNFAIP6	7130	hgsc.bcm.edu	37	2	152236046	152236046	+	Stop_Codon_Del	DEL	A	A	-	rs71403164|rs35060021	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:152236046delA	ENST00000243347.3	+	0	908					NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AGCCACTTATAAAAAAAAAAA	0.289													|||unknown(HR)	2457	0.490615	0.4425	0.4207	5008	,	,		15615	0.5208		0.5189	False		,,,				2504	0.545																0			2											20.0	21.0	21.0					2																	152236046		2160	4277	6437	151944292	SO:0001567	stop_retained_variant	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	Exception_encountered	2.37:g.152236046delA			151944292	Q53TI7|Q8WWI9	Frame_Shift_Del	DEL	ENST00000243347.3	37	CCDS2193.1																																																																																				0.289	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115	
FAM171B	165215	hgsc.bcm.edu	37	2	187559029	187559030	+	In_Frame_Ins	INS	-	-	CAG	rs549897920|rs56669143	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr2:187559029_187559030insCAG	ENST00000304698.5	+	1	332_333	c.129_130insCAG	c.(130-132)cag>CAGcag	p.44_44Q>QQ	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	44	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCCTCATCcaacagcagcagca	0.644														949	0.189497	0.1778	0.1398	5008	,	,		13517	0.1448		0.2078	False		,,,				2504	0.2679																0			2																																								187267275	SO:0001652	inframe_insertion	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.145_147dupCAG	2.37:g.187559036_187559038dupCAG	ENSP00000304108:p.Gln56dup		187267274	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	In_Frame_Ins	INS	ENST00000304698.5	37	CCDS33347.1																																																																																				0.644	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
APC	324	hgsc.bcm.edu	37	5	112155003	112155003	+	Frame_Shift_Del	DEL	A	A	-	rs77907679		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:112155003delA	ENST00000457016.1	+	10	1654	c.1274delA	c.(1273-1275)gaafs	p.E425fs	APC_ENST00000508376.2_Frame_Shift_Del_p.E425fs|APC_ENST00000257430.4_Frame_Shift_Del_p.E425fs			P25054	APC_HUMAN	adenomatous polyposis coli	425	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			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)		GAGTGGCAGGAAGCTCATGAA	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"""	0			5											58.0	57.0	57.0					5																	112155003		2202	4300	6502	112182902	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.1274delA	5.37:g.112155003delA	ENSP00000413133:p.Glu425fs		112182902	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175626	112175626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr5:112175626delA	ENST00000457016.1	+	16	4715	c.4335delA	c.(4333-4335)acafs	p.T1445fs	APC_ENST00000508376.2_Frame_Shift_Del_p.T1445fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.T1445fs			P25054	APC_HUMAN	adenomatous polyposis coli	1445	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.T1445fs*27(4)|p.A1446fs*27(1)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.S1436fs*22(1)|p.A1446fs*1(1)|p.P1441fs*27(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)		CTCCTCAAACAGCTCAAACCA	0.473		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"""	11	Deletion - Frameshift(9)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(9)|soft_tissue(1)|skin(1)	5											109.0	96.0	100.0					5																	112175626		2202	4300	6502	112203525	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.4335delA	5.37:g.112175626delA	ENSP00000413133:p.Thr1445fs		112203525	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
CYP7A1	1581	hgsc.bcm.edu	37	8	59407186	59407186	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr8:59407186delT	ENST00000301645.3	-	4	1055	c.918delA	c.(916-918)gaafs	p.E306fs		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	306					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTTTCATTGCTTCTGGGTTCC	0.373									Neonatal Giant Cell Hepatitis																																								0			8											141.0	126.0	131.0					8																	59407186		2203	4300	6503	59569740	SO:0001589	frameshift_variant	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.918delA	8.37:g.59407186delT	ENSP00000301645:p.Glu306fs		59569740	P78454|Q3MIL8|Q7KZ19	Frame_Shift_Del	DEL	ENST00000301645.3	37	CCDS6171.1																																																																																				0.373	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780	
KIN	22944	hgsc.bcm.edu	37	10	7801876	7801877	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	AA	AA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr10:7801876_7801877delAA	ENST00000379562.4	-	12	1142_1143	c.1095_1096delTT	c.(1093-1098)ttttcafs	p.S366fs	KIN_ENST00000543003.1_Frame_Shift_Del_p.S260fs|KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Frame_Shift_Del_p.S366fs	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						ATAGTAGCTGAAAAAGTCTTCT	0.302																																																	0			10																																								7841883	SO:0001589	frameshift_variant	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.1095_1096delTT	10.37:g.7801878_7801879delAA	ENSP00000368881:p.Ser366fs		7841882		Frame_Shift_Del	DEL	ENST00000379562.4	37	CCDS7080.1																																																																																				0.302	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	
KRTAP5-4	387267	hgsc.bcm.edu	37	11	1643247	1643267	+	In_Frame_Del	DEL	GAGCCACAGCCCCCACAGCCG	GAGCCACAGCCCCCACAGCCG	-	rs550575249|rs150695727|rs568897009|rs190925107|rs28696103	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	GAGCCACAGCCCCCACAGCCG	GAGCCACAGCCCCCACAGCCG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr11:1643247_1643267delGAGCCACAGCCCCCACAGCCG	ENST00000399682.1	-	1	101_121	c.57_77delCGGCTGTGGGGGCTGTGGCTC	c.(55-78)tccggctgtgggggctgtggctct>tct	p.19_26SGCGGCGS>S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)		p.C24C(5)|p.G23G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cccacagccagagccacagcccccacagccggagccacagc	0.674																																																	6	Substitution - coding silent(6)	endometrium(4)|prostate(1)|kidney(1)	11								337,3371		43,251,1560						-1.7	0.6		dbSNP_130	7	756,6656		61,634,3011	no	coding	KRTAP5-4	NM_001012709.1		104,885,4571	A1A1,A1R,RR		10.1997,9.0885,9.8291				1093,10027				1599843	SO:0001651	inframe_deletion	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.57_77delCGGCTGTGGGGGCTGTGGCTC	11.37:g.1643247_1643267delGAGCCACAGCCCCCACAGCCG	ENSP00000382590:p.Ser40_Gly46del		1599823		In_Frame_Del	DEL	ENST00000399682.1	37																																																																																					0.674	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
SCGB1D2	10647	hgsc.bcm.edu	37	11	62009833	62009833	+	Splice_Site	DEL	G	G	-			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr11:62009833delG	ENST00000244926.3	+	1	152	c.54delG	c.(52-54)cag>ca	p.Q18fs	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	18						extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						GCTGCTACCAGGGTGAGTACA	0.537																																																	0			11											158.0	119.0	132.0					11																	62009833		2202	4299	6501	61766409	SO:0001630	splice_region_variant	10647			AJ224172	CCDS8017.1	11q13	2011-12-14			ENSG00000124935	ENSG00000124935		"""Secretoglobins"""	18396	protein-coding gene	gene with protein product	"""prostatein-like lipophilin B"", ""lipophilin B (uteroglobin family member), prostatein-like"""	615061				10066439, 9720917, 22155607	Standard	XM_006718422		Approved	LPHB, LIPB	uc001ntb.3	O95969	OTTHUMG00000167508	ENST00000244926.3:c.55+1G>-	11.37:g.62009833delG			61766409	Q2M3N9	Frame_Shift_Del	DEL	ENST00000244926.3	37	CCDS8017.1																																																																																				0.537	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394859.1	NM_006551	Frame_Shift_Del
SELPLG	6404	hgsc.bcm.edu	37	12	109017425	109017454	+	In_Frame_Del	DEL	TCCATGGCTGCTGGTGGAGTGGTCTGTGCT	TCCATGGCTGCTGGTGGAGTGGTCTGTGCT	-	rs570639292|rs188941939|rs139943851|rs74792300	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	TCCATGGCTGCTGGTGGAGTGGTCTGTGCT	TCCATGGCTGCTGGTGGAGTGGTCTGTGCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:109017425_109017454delTCCATGGCTGCTGGTGGAGTGGTCTGTGCT	ENST00000550948.1	-	2	854_883	c.630_659delAGCACAGACCACTCCACCAGCAGCCATGGA	c.(628-660)gaagcacagaccactccaccagcagccatggag>gag	p.210_220EAQTTPPAAME>E	SELPLG_ENST00000228463.6_In_Frame_Del_p.226_236EAQTTPPAAME>E|SELPLG_ENST00000388962.3_In_Frame_Del_p.200_210EAQTTPPAAME>E			Q14242	SELPL_HUMAN	selectin P ligand	210	12 X 10 AA tandem repeats.			M -> T (in Ref. 3; BAC05283). {ECO:0000305}.	blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTG	0.622																																																	0			12																																								107541583	SO:0001651	inframe_deletion	6404				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.630_659delAGCACAGACCACTCCACCAGCAGCCATGGA	12.37:g.109017425_109017454delTCCATGGCTGCTGGTGGAGTGGTCTGTGCT	ENSP00000447752:p.Glu210_Met219del		107541554	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	In_Frame_Del	DEL	ENST00000550948.1	37	CCDS31895.2																																																																																				0.622	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1		
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG|RP11-547D23.1_ENST00000554235.1_RNA|AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783																0			14																																								52689231	SO:0001652	inframe_insertion	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup		52689230	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	ENST00000323669.5	37	CCDS53895.1																																																																																				0.703	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	DEL	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	-			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chrUnknown:0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT								None (None upstream) : None (None downstream)																								0.0																																																	0			17																																								263631	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT			263602		Frame_Shift_Del	DEL		37																																																																																				0	0								
RIMBP3C	150221	hgsc.bcm.edu	37	22	21904075	21904077	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	CTC	CTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr22:21904075_21904077delCTC	ENST00000433039.1	-	1	1673_1675	c.1189_1191delGAG	c.(1189-1191)gagdel	p.E397del	RIMBP3C_ENST00000331505.5_In_Frame_Del_p.E303del|UBE2L3_ENST00000458578.2_Intron	NM_001128633.1	NP_001122105.1	A6NJZ7	RIM3C_HUMAN	RIMS binding protein 3C	397										large_intestine(1)	1						GCTGCTTGTTCTCCTCTTGCAGG	0.67																																																	0			22																																								20234077	SO:0001651	inframe_deletion	150221				CCDS46669.1	22q11.21	2008-10-21			ENSG00000183246	ENSG00000183246			33892	protein-coding gene	gene with protein product		612701				17855024	Standard	NM_001128633		Approved		uc002zuq.4	A6NJZ7	OTTHUMG00000150825	ENST00000433039.1:c.1189_1191delGAG	22.37:g.21904078_21904080delCTC	ENSP00000390630:p.Glu397del		20234075		In_Frame_Del	DEL	ENST00000433039.1	37	CCDS46669.1																																																																																				0.670	RIMBP3C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_036942	
NEFH	4744	hgsc.bcm.edu	37	22	29885581	29885604	+	In_Frame_Del	DEL	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs79235463|rs200984527|rs370803228	byFrequency	TCGA-AF-6655-01A-11D-1826-10	TCGA-AF-6655-10A-01D-1826-10	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f36bb78a-5fa8-439f-92c9-56ce425206b0	54e3390b-9c67-4934-a891-f259a098de11	g.chr22:29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENST00000310624.6	+	4	1985_2008	c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	c.(1951-1977)aaggccaagtccccagagaaggaagag>aag	p.AKSPEKEE652del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTC	0.562																																																	0			22																																								28215604	SO:0001651	inframe_deletion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	22.37:g.29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENSP00000311997:p.Ala652_Glu659del		28215581	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																				0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
