#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	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_TranscriptID	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
CCT8L2	150160	hgsc.bcm.edu	37	22	17072282	17072283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr22:17072282_17072283insC	ENST00000359963.3	-	1	1417_1418	c.1158_1159insG	c.(1156-1161)cggagtfs	p.S387fs		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	387					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGCTCTGCACTCCGCAGCCCCT	0.569																																					p.S387fs												.	.	0			c.1159_1160insG	22						.																																			15452283	SO:0001589	frameshift_variant	150160	exon1			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1159dupG	22.37:g.17072284_17072284dupC	ENSP00000353048:p.Ser387fs		15452282	NM_014406	A4QPH3|Q9UJS3	Frame_Shift_Ins	INS	ENST00000359963.3	37	CCDS13738.1																																																																																				0.569	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
LINC00174	285908	hgsc.bcm.edu	37	7	65842543	65842544	+	lincRNA	INS	-	-	AT	rs574915841|rs112115083|rs11764|rs76573134|rs71523758	byFrequency	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr7:65842543_65842544insAT	ENST00000421767.1	-	0	3188_3189					NR_026873.1				long intergenic non-protein coding RNA 174									p.T18fs*93(1)|p.G21fs*90(1)									ATCCAACACACGTGCTGTTCCT	0.569														2329	0.465056	0.3101	0.4481	5008	,	,		17561	0.623		0.4235	False		,,,				2504	0.5665				.												.	.	2	Insertion - Frameshift(2)	large_intestine(1)|kidney(1)	.	7						.			1322,2942		193,936,1003						0.9	0.0		dbSNP_132	44	3443,4811		729,1985,1413	no	intergenic				922,2921,2416	A1A1,A1R,RR		41.7131,31.0038,38.0652				4765,7753				65479979			285908	.			AK091213		7q11.21	2013-12-05	2013-12-05	2013-12-05	ENSG00000179406	ENSG00000179406		"""Long non-coding RNAs"""	27788	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 174"""	NCRNA00174			Standard	NR_026873		Approved		uc003tux.4		OTTHUMG00000156590		7.37:g.65842543_65842544insAT			65479978	.		Frame_Shift_Ins	INS	ENST00000421767.1	37																																																																																					0.569	LINC00174-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000344721.1	NR_026873	
SDK1	221935	hgsc.bcm.edu	37	7	4056840	4056840	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr7:4056840C>T	ENST00000404826.2	+	17	2597	c.2458C>T	c.(2458-2460)Cgg>Tgg	p.R820W	SDK1_ENST00000389531.3_Missense_Mutation_p.R820W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	820	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R820W(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTACCAGCAGCGGAACATCAC	0.587																																					p.R820W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2458T	7						.						68.0	56.0	60.0					7																	4056840		2203	4300	6503	4023366	SO:0001583	missense	221935	exon17			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2458C>T	7.37:g.4056840C>T	ENSP00000385899:p.Arg820Trp		4023366	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913287	0.52439	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58358	0.34;0.34	6.07	-2.61	0.06171	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.245626	0.34777	N	0.003682	T	0.66327	0.2778	M	0.84326	2.69	0.27699	N	0.945852	D;D	0.89917	1.0;1.0	D;D	0.71184	0.964;0.972	T	0.61657	-0.7018	10	0.87932	D	0	.	8.1116	0.30917	0.2945:0.5519:0.0579:0.0957	.	820;820	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	W	820	ENSP00000385899:R820W;ENSP00000374182:R820W	ENSP00000374182:R820W	R	+	1	2	SDK1	4023366	0.992000	0.36948	0.691000	0.30163	0.566000	0.35808	1.371000	0.34250	-0.699000	0.05077	-1.104000	0.02111	CGG		0.587	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
CCM2L	140706	hgsc.bcm.edu	37	20	30617555	30617555	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr20:30617555G>A	ENST00000300415.8	+	9	1329	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	CCM2L_ENST00000262659.8_Missense_Mutation_p.G418R|RP1-310O13.7_ENST00000449519.1_RNA			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	439								p.G418R(1)									ATGCTGCTGCGGGAGTACCGG	0.627																																					p.G418R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1252A	20						.						73.0	66.0	68.0					20																	30617555		2203	4300	6503	30081216	SO:0001583	missense	140706	exon8			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1316G>A	20.37:g.30617555G>A	ENSP00000300415:p.Arg439Gln		30081216	NM_080625	Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.158484|5.158484	0.94686|0.94686	.|.	.|.	ENSG00000101331|ENSG00000101331	ENST00000262659|ENST00000300415;ENST00000452892	T|T;T	0.63255|0.37235	-0.03|1.21;1.21	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57755|0.57755	0.2075|0.2075	.|.	.|.	.|.	0.33867|0.33867	D|D	0.63446|0.63446	P|D	0.47409|0.76494	0.895|0.999	B|P	0.34038|0.59825	0.174|0.864	T|T	0.67067|0.67067	-0.5764|-0.5764	8|9	0.33940|0.52906	T|T	0.23|0.07	-32.7833|-32.7833	19.025|19.025	0.92929|0.92929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	418|439	Q9NUG4-2|Q9NUG4	.|CT160_HUMAN	R|Q	418|439;192	ENSP00000262659:G418R|ENSP00000300415:R439Q;ENSP00000392448:R192Q	ENSP00000262659:G418R|ENSP00000300415:R439Q	G|R	+|+	1|2	0|0	C20orf160|C20orf160	30081216|30081216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	5.648000|5.648000	0.67930|0.67930	2.735000|2.735000	0.93741|0.93741	0.563000|0.563000	0.77884|0.77884	GGG|CGG		0.627	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625	
TEP1	7011	hgsc.bcm.edu	37	14	20848443	20848443	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr14:20848443G>A	ENST00000262715.5	-	34	4994	c.4954C>T	c.(4954-4956)Cac>Tac	p.H1652Y	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Missense_Mutation_p.H1544Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1652					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.H1652Y(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGTAGTGTGTGTTGGAGGTGC	0.587																																					p.H1652Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4954T	14						.						209.0	194.0	199.0					14																	20848443		2203	4300	6503	19918283	SO:0001583	missense	7011	exon34				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4954C>T	14.37:g.20848443G>A	ENSP00000262715:p.His1652Tyr		19918283	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.870489	0.00542	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.49720	0.81;0.77	5.96	2.67	0.31697	.	1.302910	0.04529	N	0.386095	T	0.39253	0.1071	L	0.48642	1.525	0.09310	N	0.999992	B;B;B	0.20988	0.002;0.05;0.001	B;B;B	0.21917	0.002;0.037;0.001	T	0.28681	-1.0036	10	0.02654	T	1	2.8453	8.2701	0.31838	0.2939:0.0:0.7061:0.0	.	1544;995;1652	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Y	1652;1652;1544	ENSP00000262715:H1652Y;ENSP00000452574:H1544Y	ENSP00000262715:H1652Y	H	-	1	0	TEP1	19918283	0.119000	0.22226	0.000000	0.03702	0.026000	0.11368	1.280000	0.33202	0.233000	0.21120	0.655000	0.94253	CAC		0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
RPS6KL1	83694	hgsc.bcm.edu	37	14	75388086	75388086	+	Silent	SNP	C	C	T			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr14:75388086C>T	ENST00000555647.1	-	3	446	c.159G>A	c.(157-159)gcG>gcA	p.A53A	RPS6KL1_ENST00000354625.2_Silent_p.A53A|RPS6KL1_ENST00000358328.4_Silent_p.A53A|RPS6KL1_ENST00000557413.1_Silent_p.A53A|RPS6KL1_ENST00000554900.1_Intron			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	53						ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A53A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TCTGCGTGGCCGCATCCACCA	0.597																																					p.A53A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G159A	14						.						133.0	114.0	121.0					14																	75388086		2203	4300	6503	74457839	SO:0001819	synonymous_variant	83694	exon2			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.159G>A	14.37:g.75388086C>T			74457839	NM_031464	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Silent	SNP	ENST00000555647.1	37	CCDS9834.2																																																																																				0.597	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1		
MRPL20	55052	hgsc.bcm.edu	37	1	1337537	1337537	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr1:1337537C>T	ENST00000344843.7	-	4	471	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	MRPL20_ENST00000493287.1_5'UTR|CCNL2_ENST00000408918.4_5'Flank|CCNL2_ENST00000400809.3_5'Flank	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	126					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.E126K(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCAAATCCTTCGTGTCGCCTC	0.517																																					p.E126K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	1						.						135.0	126.0	129.0					1																	1337537		2203	4296	6499	1327400	SO:0001583	missense	55052	exon4			AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"""Mitochondrial ribosomal proteins / large subunits"""	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.376G>A	1.37:g.1337537C>T	ENSP00000341082:p.Glu126Lys		1327400	NM_017971	B2RE41|B7Z746	Missense_Mutation	SNP	ENST00000344843.7	37	CCDS26.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461499	0.63513	.	.	ENSG00000242485	ENST00000344843	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67647	-0.5617	9	0.44086	T	0.13	-15.2077	17.4859	0.87688	0.0:1.0:0.0:0.0	.	126	Q9BYC9	RM20_HUMAN	K	126	.	ENSP00000341082:E126K	E	-	1	0	MRPL20	1327400	1.000000	0.71417	0.931000	0.37212	0.014000	0.08584	6.457000	0.73505	2.382000	0.81193	0.467000	0.42956	GAA		0.517	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008139.1	NM_017971	
WARS2	10352	hgsc.bcm.edu	37	1	119575743	119575743	+	Missense_Mutation	SNP	G	G	A	rs201132666		TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr1:119575743G>A	ENST00000235521.4	-	6	900	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.R198C	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	292					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.R292C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GCGCTGCGGCGCACCACTTCC	0.602																																					p.R292C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C874T	1						.						68.0	69.0	69.0					1																	119575743		2203	4300	6503	119377266	SO:0001583	missense	10352	exon6			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.874C>T	1.37:g.119575743G>A	ENSP00000235521:p.Arg292Cys		119377266	NM_015836	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	8.544	0.874027	0.17395	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.52295	0.67;0.67	5.87	2.98	0.34508	.	0.586898	0.19837	N	0.104953	T	0.17704	0.0425	L	0.35644	1.08	0.27834	N	0.941342	B;B	0.18013	0.025;0.022	B;B	0.19946	0.027;0.022	T	0.16158	-1.0412	10	0.56958	D	0.05	-2.862	7.3058	0.26447	0.1979:0.1196:0.6825:0.0	.	235;292	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	C	292;198	ENSP00000235521:R292C;ENSP00000438807:R198C	ENSP00000235521:R292C	R	-	1	0	WARS2	119377266	0.000000	0.05858	0.263000	0.24496	0.005000	0.04900	0.811000	0.27198	0.839000	0.34971	-0.140000	0.14226	CGC		0.602	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836	
KIF17	57576	hgsc.bcm.edu	37	1	21031046	21031046	+	Silent	SNP	C	C	T	rs2296226	byFrequency	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr1:21031046C>T	ENST00000247986.2	-	5	1327	c.1017G>A	c.(1015-1017)ccG>ccA	p.P339P	KIF17_ENST00000400463.3_Silent_p.P339P|KIF17_ENST00000375044.1_Silent_p.P239P			Q9P2E2	KIF17_HUMAN	kinesin family member 17	339					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.P339P(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CATTGATGCGCGGCTTGTTCC	0.602													C|||	930	0.185703	0.23	0.1354	5008	,	,		17402	0.3998		0.0507	False		,,,				2504	0.0798				p.P339P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1017A	1						.	C	,	886,3520	346.2+/-308.9	103,680,1420	158.0	119.0	132.0		1017,1017	-10.5	0.1	1	dbSNP_100	132	415,8185	130.2+/-188.1	10,395,3895	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	113,1075,5315	TT,TC,CC		4.8256,20.1089,10.0031	,	339/1029,339/1030	21031046	1301,11705	2203	4300	6503	20903633	SO:0001819	synonymous_variant	57576	exon5			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1017G>A	1.37:g.21031046C>T			20903633	NM_001122819	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																				0.602	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
HMCN1	83872	hgsc.bcm.edu	37	1	186158885	186158885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr1:186158885C>T	ENST00000271588.4	+	107	17012	c.16783C>T	c.(16783-16785)Cga>Tga	p.R5595*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R5478*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5595					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R5595*(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTATACAACACGACCACTACG	0.468																																					p.R5595X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|pancreas(1)	c.C16783T	1						.						112.0	96.0	102.0					1																	186158885		2203	4300	6503	184425508	SO:0001587	stop_gained	83872	exon107			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16783C>T	1.37:g.186158885C>T	ENSP00000271588:p.Arg5595*		184425508	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	57	28.030431	0.99972	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.91	3.9	0.45041	.	0.057561	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4794	0.67570	0.4272:0.5728:0.0:0.0	.	.	.	.	X	5595;5478	.	ENSP00000271588:R5595X	R	+	1	2	HMCN1	184425508	0.845000	0.29573	0.757000	0.31301	0.857000	0.48899	1.442000	0.35046	1.457000	0.47850	0.655000	0.94253	CGA		0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
GCNT2	2651	hgsc.bcm.edu	37	6	10586308	10586308	+	Intron	SNP	C	C	T			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr6:10586308C>T	ENST00000379597.3	+	2	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000265012.4_Missense_Mutation_p.P29L|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.P29L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CAATTGAGCCCGCCAAAAAGT	0.403																																					p.P29L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C86T	6						.						141.0	136.0	138.0					6																	10586308		2203	4300	6503	10694294	SO:0001627	intron_variant	2651	exon1			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-35276C>T	6.37:g.10586308C>T			10694294	NM_145655		Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185386	0.21870	.	.	ENSG00000111846	ENST00000265012	T	0.09255	3.0	5.25	-1.8	0.07907	.	.	.	.	.	T	0.00845	0.0028	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46527	-0.9185	9	0.28530	T	0.3	.	6.3369	0.21300	0.1332:0.4427:0.0:0.4241	.	29	Q8NFS9	GNT2C_HUMAN	L	29	ENSP00000265012:P29L	ENSP00000265012:P29L	P	+	2	0	GCNT2	10694294	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.092000	0.01354	-0.636000	0.05524	0.655000	0.94253	CCG		0.403	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
BMP6	654	hgsc.bcm.edu	37	6	7880316	7880316	+	Silent	SNP	C	C	T	rs138326174		TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr6:7880316C>T	ENST00000283147.6	+	6	1533	c.1374C>T	c.(1372-1374)caC>caT	p.H458H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	458					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.H458H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAACCAACCACGCGATTGTGC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		22240	0.0		0.001	False		,,,				2504	0.0				p.H458H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1374T	6						.	C		0,4406		0,0,2203	206.0	187.0	194.0		1374	-6.3	0.8	6	dbSNP_134	194	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	BMP6	NM_001718.4		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		458/514	7880316	6,13000	2203	4300	6503	7825315	SO:0001819	synonymous_variant	654	exon6			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1374C>T	6.37:g.7880316C>T			7825315	NM_001718	Q5TCP3	Silent	SNP	ENST00000283147.6	37	CCDS4503.1																																																																																				0.483	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718	
TFEB	7942	hgsc.bcm.edu	37	6	41657513	41657513	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr6:41657513C>T	ENST00000230323.4	-	5	806	c.505G>A	c.(505-507)Gat>Aat	p.D169N	TFEB_ENST00000420312.1_Missense_Mutation_p.D84N|TFEB_ENST00000394283.1_Missense_Mutation_p.D169N|TFEB_ENST00000358871.2_Missense_Mutation_p.D183N|TFEB_ENST00000403298.4_Missense_Mutation_p.D169N|TFEB_ENST00000373033.1_Missense_Mutation_p.D169N	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	169				DDV -> TMS (in Ref. 1; AAA36730). {ECO:0000305}.	autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D169N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCAAGGACATCGTCCAGACGC	0.552			T	ALPHA	renal (childhood epithelioid)																																p.D169N			Dom	yes		6	6p21	7942	transcription factor EB		"""E,M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G505A	6						.						129.0	99.0	109.0					6																	41657513		2203	4300	6503	41765491	SO:0001583	missense	7942	exon5			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.505G>A	6.37:g.41657513C>T	ENSP00000230323:p.Asp169Asn		41765491	NM_007162	Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620513	0.46736	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396;ENST00000416140;ENST00000419574	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.74;1.78;1.82;1.81;1.82;1.7;1.82;1.38;1.38;1.35;1.38	5.36	2.37	0.29283	.	0.540189	0.14655	N	0.306324	T	0.18045	0.0433	M	0.69358	2.11	0.51482	D	0.999926	B;B;B;B	0.21309	0.017;0.004;0.017;0.054	B;B;B;B	0.12156	0.002;0.001;0.002;0.007	T	0.03728	-1.1009	10	0.45353	T	0.12	-9.415	8.0153	0.30376	0.0:0.606:0.0:0.394	.	255;183;169;84	B0QYS7;B0QYS6;P19484;P19484-2	.;.;TFEB_HUMAN;.	N	27;255;169;183;169;84;169;169;169;169;169	ENSP00000383998:D27N;ENSP00000343948:D255N;ENSP00000230323:D169N;ENSP00000351742:D183N;ENSP00000384203:D169N;ENSP00000412551:D84N;ENSP00000362124:D169N;ENSP00000377824:D169N;ENSP00000410391:D169N;ENSP00000406491:D169N;ENSP00000400276:D169N	ENSP00000230323:D169N	D	-	1	0	TFEB	41765491	0.986000	0.35501	0.245000	0.24217	0.898000	0.52572	2.066000	0.41452	0.147000	0.19030	0.561000	0.74099	GAT		0.552	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3		
CTNS	1497	hgsc.bcm.edu	37	17	3558320	3558320	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr17:3558320C>G	ENST00000046640.3	+	6	847	c.254C>G	c.(253-255)tCc>tGc	p.S85C	CTNS_ENST00000441220.2_Intron|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000381870.3_Missense_Mutation_p.S85C|CTNS_ENST00000414524.2_5'UTR	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	85					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)	p.S85C(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GTGACAAACTCCTCTTTTCAA	0.502																																					p.S85C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C254G	17						.						137.0	127.0	130.0					17																	3558320		2203	4300	6503	3505069	SO:0001583	missense	1497	exon6			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.254C>G	17.37:g.3558320C>G	ENSP00000046640:p.Ser85Cys		3505069	NM_004937	D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	ENST00000046640.3	37	CCDS11031.1	.	.	.	.	.	.	.	.	.	.	c	18.91	3.723218	0.68959	.	.	ENSG00000040531	ENST00000046640;ENST00000381870	D;D	0.95724	-3.77;-3.79	5.0	5.0	0.66597	.	0.387349	0.29362	N	0.012362	D	0.94843	0.8334	L	0.38531	1.155	0.80722	D	1	P;P	0.49783	0.694;0.928	B;P	0.52672	0.415;0.706	D	0.94850	0.8013	10	0.54805	T	0.06	-20.0704	16.3341	0.83052	0.0:1.0:0.0:0.0	.	85;85	O60931;O60931-2	CTNS_HUMAN;.	C	85	ENSP00000046640:S85C;ENSP00000371294:S85C	ENSP00000046640:S85C	S	+	2	0	CTNS	3505069	0.499000	0.26083	0.923000	0.36655	0.900000	0.52787	2.852000	0.48310	2.712000	0.92718	0.655000	0.94253	TCC		0.502	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937	
PHF12	57649	hgsc.bcm.edu	37	17	27250949	27250949	+	Silent	SNP	C	C	G			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr17:27250949C>G	ENST00000332830.4	-	4	1503	c.693G>C	c.(691-693)ctG>ctC	p.L231L	PHF12_ENST00000577226.1_Silent_p.L231L|PHF12_ENST00000268756.3_Silent_p.L231L|PHF12_ENST00000582655.1_5'UTR|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.L231L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TGGTACAAGTCAGTTCATTGG	0.567																																					p.L231L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G693C	17						.						53.0	51.0	52.0					17																	27250949		2203	4300	6503	24275075	SO:0001819	synonymous_variant	57649	exon4			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.693G>C	17.37:g.27250949C>G			24275075	NM_001033561		Silent	SNP	ENST00000332830.4	37	CCDS32598.1																																																																																				0.567	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
TP53	7157	hgsc.bcm.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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)																											p.R213X	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,+1	.	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	c.C637T	17	GRCh37	CM951226	TP53	M		.						132.0	118.0	123.0					17																	7578212		2203	4300	6503	7518937	SO:0001587	stop_gained	7157	exon6	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		7518937	NM_001126114	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ASB16	92591	hgsc.bcm.edu	37	17	42255005	42255005	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr17:42255005G>A	ENST00000293414.1	+	4	1175	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	364					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R364Q(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AACTTCCCTCGGGCCCTGGAA	0.592																																					p.R364Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1091A	17						.						179.0	122.0	141.0					17																	42255005		2203	4300	6503	39610531	SO:0001583	missense	92591	exon4			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1091G>A	17.37:g.42255005G>A	ENSP00000293414:p.Arg364Gln		39610531	NM_080863	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047836	0.55110	.	.	ENSG00000161664	ENST00000293414	T	0.64438	-0.1	5.2	4.17	0.49024	.	0.293107	0.33161	N	0.005211	T	0.34948	0.0915	N	0.12182	0.205	0.28203	N	0.927256	B	0.21688	0.059	B	0.08055	0.003	T	0.10086	-1.0645	10	0.15499	T	0.54	-33.6404	5.1835	0.15173	0.1051:0.0:0.688:0.2069	.	364	Q96NS5	ASB16_HUMAN	Q	364	ENSP00000293414:R364Q	ENSP00000293414:R364Q	R	+	2	0	ASB16	39610531	0.004000	0.15560	1.000000	0.80357	0.997000	0.91878	0.107000	0.15375	2.709000	0.92574	0.491000	0.48974	CGG		0.592	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1		
SON	6651	hgsc.bcm.edu	37	21	34927315	34927315	+	Silent	SNP	T	T	C			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr21:34927315T>C	ENST00000356577.4	+	3	6253	c.5778T>C	c.(5776-5778)agT>agC	p.S1926S	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.S1926S|SON_ENST00000300278.4_Silent_p.S1926S|SON_ENST00000290239.6_Silent_p.S1926S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1926	7 X 7 AA repeats of P-S-R-R-S-R-[TS].				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S1926S(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAACCCCAAGTCGTCGGAGTC	0.512																																					p.S1926S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T5778C	21						.						39.0	38.0	39.0					21																	34927315		2203	4299	6502	33849185	SO:0001819	synonymous_variant	6651	exon3			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5778T>C	21.37:g.34927315T>C			33849185	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	6.066	0.380449	0.11466	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.53	1.84	0.25277	.	.	.	.	.	T	0.51449	0.1675	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38200	-0.9672	4	.	.	.	.	4.7475	0.13045	0.1593:0.2261:0.0:0.6146	.	.	.	.	A	921	.	.	V	+	2	0	SON	33849185	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.528000	0.23002	0.371000	0.24564	0.533000	0.62120	GTC		0.512	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
ACSM5	54988	hgsc.bcm.edu	37	16	20429585	20429585	+	Missense_Mutation	SNP	C	C	T	rs148458265		TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr16:20429585C>T	ENST00000331849.4	+	3	556	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	ACSM5_ENST00000575584.1_Missense_Mutation_p.R137W	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	137					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.R137W(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGCTTGCATGCGGACAGGTCA	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12945	0.0		0.0	False		,,,				2504	0.0				p.R137W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C409T	16						.	C	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	47.0	39.0	42.0		409	2.4	1.0	16	dbSNP_134	42	2,8598	1.2+/-3.3	0,2,4298	yes	missense	ACSM5	NM_017888.2	101	0,7,6496	TT,TC,CC		0.0233,0.1135,0.0538	probably-damaging	137/580	20429585	7,12999	2203	4300	6503	20337086	SO:0001583	missense	54988	exon3				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.409C>T	16.37:g.20429585C>T	ENSP00000327916:p.Arg137Trp		20337086	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.05	3.289968	0.59976	0.001135	2.33E-4	ENSG00000183549	ENST00000331849	T	0.47177	0.85	4.56	2.41	0.29592	AMP-dependent synthetase/ligase (1);	0.000000	0.53938	D	0.000048	T	0.72606	0.3481	M	0.92026	3.265	0.40525	D	0.980876	D	0.89917	1.0	D	0.97110	1.0	T	0.80587	-0.1316	10	0.87932	D	0	-25.7928	13.0299	0.58837	0.3737:0.6263:0.0:0.0	.	137	Q6NUN0	ACSM5_HUMAN	W	137	ENSP00000327916:R137W	ENSP00000327916:R137W	R	+	1	2	ACSM5	20337086	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	1.058000	0.30504	1.114000	0.41781	0.650000	0.86243	CGG		0.572	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888	
SRCAP	10847	hgsc.bcm.edu	37	16	30735726	30735726	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr16:30735726C>G	ENST00000262518.4	+	25	5366	c.4981C>G	c.(4981-4983)Caa>Gaa	p.Q1661E	SRCAP_ENST00000344771.4_Missense_Mutation_p.Q1503E|SRCAP_ENST00000395059.2_Missense_Mutation_p.Q1599E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1661	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.Q1661E(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATCATCAACTCAAACTATGCT	0.582																																					p.Q1661E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4981G	16						.						143.0	147.0	146.0					16																	30735726		2197	4300	6497	30643227	SO:0001583	missense	10847	exon25			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4981C>G	16.37:g.30735726C>G	ENSP00000262518:p.Gln1661Glu		30643227	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104470	0.37145	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92048	-2.92;-2.88;-2.96	5.81	5.81	0.92471	.	0.119736	0.38005	N	0.001854	D	0.87176	0.6112	N	0.19112	0.55	0.31478	N	0.667529	P;P;P	0.40794	0.571;0.729;0.61	B;B;B	0.39027	0.21;0.288;0.15	D	0.88606	0.3153	10	0.59425	D	0.04	-3.8396	17.5674	0.87923	0.0:1.0:0.0:0.0	.	1503;1599;1661	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	E	1661;1599;1503	ENSP00000262518:Q1661E;ENSP00000378499:Q1599E;ENSP00000343042:Q1503E	ENSP00000262518:Q1661E	Q	+	1	0	SRCAP	30643227	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	1.393000	0.34497	2.741000	0.93983	0.650000	0.86243	CAA		0.582	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
TMEM43	79188	hgsc.bcm.edu	37	3	14176345	14176345	+	Missense_Mutation	SNP	G	G	A	rs570836197		TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr3:14176345G>A	ENST00000306077.4	+	8	913	c.659G>A	c.(658-660)cGc>cAc	p.R220H	RP11-434D12.1_ENST00000608606.1_5'Flank	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	220					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R220H(1)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GACATCATTCGCCGTGGAGAC	0.542																																					p.R220H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659A	3						.						103.0	98.0	100.0					3																	14176345		2203	4300	6503	14151346	SO:0001583	missense	79188	exon8			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.659G>A	3.37:g.14176345G>A	ENSP00000303992:p.Arg220His		14151346	NM_024334	Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421389	0.83559	.	.	ENSG00000170876	ENST00000306077	T	0.35605	1.3	5.33	5.33	0.75918	.	0.358861	0.32328	N	0.006250	T	0.30135	0.0755	N	0.01168	-0.975	0.35937	D	0.832942	D;D	0.76494	0.999;0.998	D;P	0.68621	0.959;0.84	T	0.56384	-0.7988	10	0.38643	T	0.18	-22.8574	14.6087	0.68501	0.0:0.1456:0.8544:0.0	.	150;220	Q8TEP9;Q9BTV4	.;TMM43_HUMAN	H	220	ENSP00000303992:R220H	ENSP00000303992:R220H	R	+	2	0	TMEM43	14151346	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.364000	0.59479	2.491000	0.84063	0.491000	0.48974	CGC		0.542	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334	
MSRB3	253827	hgsc.bcm.edu	37	12	65722326	65722326	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr12:65722326C>T	ENST00000355192.3	+	3	353	c.227C>T	c.(226-228)aCa>aTa	p.T76I	MSRB3_ENST00000535664.1_Missense_Mutation_p.T69I|MSRB3_ENST00000308259.5_Missense_Mutation_p.T69I|MSRB3_ENST00000540804.1_Missense_Mutation_p.T76I	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	76					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)	p.T69I(1)|p.T76I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GGAGAATACACACATCACAAA	0.289																																					p.T69I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C206T	12						.						141.0	142.0	142.0					12																	65722326		2203	4297	6500	64008593	SO:0001583	missense	253827	exon4			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.227C>T	12.37:g.65722326C>T	ENSP00000347324:p.Thr76Ile		64008593	NM_001193461	B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	C	5.253	0.232133	0.09969	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000540804;ENST00000535664;ENST00000538045;ENST00000535239	T;T;T;T;T;T	0.76839	-1.0;-1.0;-1.05;-1.0;-1.05;-1.0	5.52	3.71	0.42584	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.275476	0.41194	N	0.000924	T	0.71333	0.3327	L	0.49126	1.545	0.44439	D	0.997369	B;B	0.19445	0.036;0.003	B;B	0.26864	0.074;0.025	T	0.63180	-0.6695	9	.	.	.	.	11.8463	0.52387	0.0:0.8584:0.0:0.1416	.	76;69	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	I	76;69;76;69;69;69	ENSP00000347324:T76I;ENSP00000312274:T69I;ENSP00000437623:T76I;ENSP00000441650:T69I;ENSP00000442620:T69I;ENSP00000445843:T69I	.	T	+	2	0	MSRB3	64008593	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.480000	0.35464	0.719000	0.32188	0.557000	0.71058	ACA		0.289	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080	
PPIB	5479	hgsc.bcm.edu	37	15	64452396	64452396	+	Splice_Site	SNP	T	T	C			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr15:64452396T>C	ENST00000300026.3	-	3	468	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	84	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)	p.K84E(1)		kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CCAAATCCTTTCTAGAAAAAG	0.478																																					p.K84E	GBM(105;399 1481 32889 33051 36637)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A250G	15						.						117.0	100.0	106.0					15																	64452396		2203	4300	6503	62239449	SO:0001630	splice_region_variant	5479	exon3				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.250-1A>G	15.37:g.64452396T>C			62239449	NM_000942	A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	ENST00000300026.3	37	CCDS10191.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297923	0.60086	.	.	ENSG00000166794	ENST00000300026	T	0.37915	1.17	5.14	5.14	0.70334	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	L	0.45698	1.435	0.80722	D	1	B	0.27910	0.193	B	0.29663	0.105	T	0.20075	-1.0286	10	0.59425	D	0.04	.	14.6186	0.68569	0.0:0.0:0.0:1.0	.	84	P23284	PPIB_HUMAN	E	84	ENSP00000300026:K84E	ENSP00000300026:K84E	K	-	1	0	PPIB	62239449	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.552000	0.82192	1.928000	0.55862	0.459000	0.35465	AAA		0.478	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1		Missense_Mutation
DRP2	1821	hgsc.bcm.edu	37	X	100492659	100492659	+	Silent	SNP	T	T	A			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chrX:100492659T>A	ENST00000395209.3	+	5	860	c.333T>A	c.(331-333)ctT>ctA	p.L111L	DRP2_ENST00000402866.1_Silent_p.L111L|DRP2_ENST00000538510.1_Silent_p.L111L|DRP2_ENST00000541709.1_Silent_p.L33L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	111					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L108L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AGCTCCCTCTTCAAGAGATTA	0.517																																					p.L111L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T333A	X						.						118.0	110.0	113.0					X																	100492659		2203	4300	6503	100379315	SO:0001819	synonymous_variant	1821	exon5			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.333T>A	X.37:g.100492659T>A			100379315	NM_001939	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	CCDS14480.2																																																																																				0.517	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	
FHL1	2273	hgsc.bcm.edu	37	X	135288684	135288684	+	Silent	SNP	C	C	T			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chrX:135288684C>T	ENST00000345434.3	+	2	174	c.93C>T	c.(91-93)tgC>tgT	p.C31C	FHL1_ENST00000543669.1_Silent_p.C31C|FHL1_ENST00000370690.3_Silent_p.C31C|FHL1_ENST00000539015.1_Silent_p.C60C|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000535737.1_Silent_p.C31C|FHL1_ENST00000394155.2_Silent_p.C31C|FHL1_ENST00000370683.1_Silent_p.C47C|FHL1_ENST00000370676.3_Silent_p.C47C|FHL1_ENST00000394153.2_Silent_p.C31C			Q13642	FHL1_HUMAN	four and a half LIM domains 1	31					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)	p.C31C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCTGAAATGCTTTGACAAGT	0.567																																					p.C31C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C93T	X						.						211.0	185.0	194.0					X																	135288684		2203	4300	6503	135116350	SO:0001819	synonymous_variant	2273	exon3			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.93C>T	X.37:g.135288684C>T			135116350	NM_001159702	B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Silent	SNP	ENST00000345434.3	37	CCDS55507.1																																																																																				0.567	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449	
TNFRSF19	55504	hgsc.bcm.edu	37	13	24242834	24242834	+	Silent	SNP	C	C	T			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr13:24242834C>T	ENST00000382258.4	+	9	1047	c.843C>T	c.(841-843)aaC>aaT	p.N281N	TNFRSF19_ENST00000382263.3_Silent_p.N281N|TNFRSF19_ENST00000248484.4_Silent_p.N281N|TNFRSF19_ENST00000403372.2_Silent_p.N149N	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	281					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.N281N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGTGCAGAAACGCAGGCCCAG	0.478																																					p.N281N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C843T	13						.						73.0	74.0	74.0					13																	24242834		2203	4300	6503	23140834	SO:0001819	synonymous_variant	55504	exon9			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.843C>T	13.37:g.24242834C>T			23140834	NM_148957	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	ENST00000382258.4	37	CCDS9302.1																																																																																				0.478	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647	
FLT1	2321	hgsc.bcm.edu	37	13	29004198	29004198	+	Silent	SNP	C	C	T	rs145266667	byFrequency	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr13:29004198C>T	ENST00000282397.4	-	8	1346	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	FLT1_ENST00000541932.1_Silent_p.P365P|FLT1_ENST00000539099.1_Silent_p.P365P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	365	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.P365P(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATACAACTTCCGGCGAGGGAA	0.448													C|||	14	0.00279553	0.0	0.0	5008	,	,		20025	0.0		0.0139	False		,,,				2504	0.0				p.P365P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1095A	13						.	C	,,,	1,4405	2.1+/-5.4	0,1,2202	119.0	117.0	117.0		1095,1095,1095,1095	-0.7	1.0	13	dbSNP_134	117	37,8563	25.1+/-72.6	0,37,4263	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FLT1	NM_001159920.1,NM_001160030.1,NM_001160031.1,NM_002019.4	,,,	0,38,6465	TT,TC,CC		0.4302,0.0227,0.2922	,,,	365/688,365/734,365/542,365/1339	29004198	38,12968	2203	4300	6503	27902198	SO:0001819	synonymous_variant	2321	exon8			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1095G>A	13.37:g.29004198C>T			27902198	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	CCDS9330.1																																																																																				0.448	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
APC	324	hgsc.bcm.edu	37	5	112164586	112164586	+	Nonsense_Mutation	SNP	C	C	T	rs137854573		TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr5:112164586C>T	ENST00000457016.1	+	14	2040	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	APC_ENST00000508376.2_Nonsense_Mutation_p.R554*|CTC-554D6.1_ENST00000520401.1_Silent_p.G49G|APC_ENST00000257430.4_Nonsense_Mutation_p.R554*			P25054	APC_HUMAN	adenomatous polyposis coli	554	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)	p.R554*(10)|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)		TTTGTCTTGGCGAGCAGATGT	0.303		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)																											p.R536X	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"""	APC,ovary,NS,Substitution - Nonsense,0	.	11	Substitution - Nonsense(10)|Unknown(1)	large_intestine(9)|ovary(1)|skin(1)	c.C1606T	5	GRCh37	CM920034	APC	M	rs137854573	.						120.0	128.0	125.0					5																	112164586		2202	4300	6502	112192485	SO:0001587	stop_gained	324	exon12	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.1660C>T	5.37:g.112164586C>T	ENSP00000413133:p.Arg554*		112192485	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	39	7.421849	0.98275	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.62	1.6	0.23607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1281	16.6906	0.85320	0.7141:0.2859:0.0:0.0	.	.	.	.	X	554;536;554;554;554	.	ENSP00000257430:R554X	R	+	1	2	APC	112192485	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	0.994000	0.29693	-0.006000	0.14370	0.655000	0.94253	CGA		0.303	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ADCY2	108	hgsc.bcm.edu	37	5	7766897	7766897	+	Missense_Mutation	SNP	C	C	T	rs369487048		TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr5:7766897C>T	ENST00000338316.4	+	17	2281	c.2192C>T	c.(2191-2193)gCg>gTg	p.A731V	ADCY2_ENST00000537121.1_Missense_Mutation_p.A551V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	731					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.A731V(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATTCTGCGTGCGCAGAATTTA	0.428																																					p.A731V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2192T	5						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	172.0	176.0	175.0		2192	4.6	0.9	5		175	0,8600		0,0,4300	no	missense	ADCY2	NM_020546.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	731/1092	7766897	1,13005	2203	4300	6503	7819897	SO:0001583	missense	108	exon17			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2192C>T	5.37:g.7766897C>T	ENSP00000342952:p.Ala731Val		7819897	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961896	0.34659	2.27E-4	0.0	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.81821	-1.06;-1.54	5.46	4.59	0.56863	.	0.640370	0.16412	N	0.215526	T	0.73016	0.3533	L	0.44542	1.39	0.28642	N	0.907084	B;B	0.11235	0.004;0.003	B;B	0.08055	0.003;0.001	T	0.64914	-0.6295	10	0.44086	T	0.13	.	10.6427	0.45602	0.0:0.9112:0.0:0.0888	.	551;731	B7Z2C1;Q08462	.;ADCY2_HUMAN	V	731;564;551	ENSP00000342952:A731V;ENSP00000444803:A551V	ENSP00000342952:A731V	A	+	2	0	ADCY2	7819897	0.976000	0.34144	0.882000	0.34594	0.759000	0.43091	2.336000	0.43938	2.559000	0.86315	0.655000	0.94253	GCG		0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
SPEF2	79925	hgsc.bcm.edu	37	5	35628615	35628615	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr5:35628615C>G	ENST00000356031.3	+	2	266	c.112C>G	c.(112-114)Cta>Gta	p.L38V	SPEF2_ENST00000440995.2_Missense_Mutation_p.L38V|SPEF2_ENST00000509059.1_Missense_Mutation_p.L38V|SPEF2_ENST00000282469.6_Missense_Mutation_p.L38V	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	38	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.L38V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGAGAAGTTCTACACAAGTT	0.353																																					p.L38V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C112G	5						.						142.0	140.0	141.0					5																	35628615		2203	4300	6503	35664372	SO:0001583	missense	79925	exon2			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.112C>G	5.37:g.35628615C>G	ENSP00000348314:p.Leu38Val		35664372	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505406	0.64410	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.64	3.83	0.44106	Calponin homology domain (1);	0.000000	0.64402	D	0.000008	T	0.49423	0.1556	M	0.80183	2.485	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.87578	0.998;0.998;0.996	T	0.49293	-0.8955	10	0.87932	D	0	.	8.792	0.34857	0.0:0.8194:0.0:0.1806	.	38;38;38	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	V	38	ENSP00000282469:L38V;ENSP00000348314:L38V;ENSP00000421593:L38V;ENSP00000426259:L38V;ENSP00000412125:L38V	ENSP00000282469:L38V	L	+	1	2	SPEF2	35664372	1.000000	0.71417	0.989000	0.46669	0.945000	0.59286	2.989000	0.49393	0.709000	0.31976	0.655000	0.94253	CTA		0.353	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
PCDHB2	56133	hgsc.bcm.edu	37	5	140475149	140475149	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-A6-2674-01A-02W-0831-10	TCGA-A6-2674-10A-01W-0831-10	g.chr5:140475149G>A	ENST00000194155.4	+	1	923	c.775G>A	c.(775-777)Gtt>Att	p.V259I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V259I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAGCCCCGTTGGATCCCA	0.502																																					p.V259I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	5						.						63.0	64.0	64.0					5																	140475149		2203	4300	6503	140455333	SO:0001583	missense	56133	exon1			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.775G>A	5.37:g.140475149G>A	ENSP00000194155:p.Val259Ile		140455333	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.635342	0.00806	.	.	ENSG00000112852	ENST00000194155	T	0.52754	0.65	5.42	-7.0	0.01599	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26991	0.0661	L	0.31476	0.935	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.17048	-1.0382	9	0.23891	T	0.37	.	6.8403	0.23959	0.2184:0.1257:0.5822:0.0737	.	259	Q9Y5E7	PCDB2_HUMAN	I	259	ENSP00000194155:V259I	ENSP00000194155:V259I	V	+	1	0	PCDHB2	140455333	0.000000	0.05858	0.017000	0.16124	0.049000	0.14656	-5.446000	0.00121	-1.522000	0.01769	-0.797000	0.03246	GTT		0.502	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
