#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_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	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_dbSNPPopFreq	i_dbSNP_AF	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
ATP13A2	23400	hgsc.bcm.edu	37	1	17318784	17318784	+	Silent	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:17318784G>T	ENST00000326735.8	-	18	1992	c.1959C>A	c.(1957-1959)gtC>gtA	p.V653V	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Silent_p.V648V|ATP13A2_ENST00000341676.5_Silent_p.V648V			Q9NQ11	AT132_HUMAN	ATPase type 13A2	653					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGGAGCCTTTGACGTAGGCCT	0.667																																					p.V653V		Atlas-SNP	.											.	ATP13A2	85	.	0			c.C1959A						.						15.0	18.0	17.0					1																	17318784		2203	4297	6500	SO:0001819	synonymous_variant	23400	exon18			GCCTTTGACGTAG	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1959C>A	chr1.hg19:g.17318784G>T		97.0	0.0		84.0	60.0	NM_022089	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	hg19	CCDS175.1																																																																																			.	.		0.667	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
KDM1A	23028	hgsc.bcm.edu	37	1	23409732	23409732	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:23409732C>T	ENST00000356634.3	+	19	2583	c.2434C>T	c.(2434-2436)Cat>Tat	p.H812Y	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.H836Y|KDM1A_ENST00000542151.1_Missense_Mutation_p.H836Y	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	812	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGCCACAGTGCATGGTGCTCT	0.537																																					p.H836Y		Atlas-SNP	.											.	KDM1A	49	.	0			c.C2506T						.						94.0	82.0	86.0					1																	23409732		2203	4300	6503	SO:0001583	missense	23028	exon21			ACAGTGCATGGTG	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2434C>T	chr1.hg19:g.23409732C>T	ENSP00000349049:p.His812Tyr	104.0	0.0		134.0	104.0	NM_001009999	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	hg19	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520985	0.85495	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.93488	-3.23;-3.23;-3.23	5.67	3.77	0.43336	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97512	1.0067	10	0.87932	D	0	-18.6124	10.4675	0.44616	0.132:0.7976:0.0:0.0704	.	836;812	O60341-2;O60341	.;KDM1A_HUMAN	Y	812;836;836	ENSP00000349049:H812Y;ENSP00000383042:H836Y;ENSP00000439072:H836Y	ENSP00000349049:H812Y	H	+	1	0	KDM1A	23282319	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.984000	0.70548	1.382000	0.46385	0.655000	0.94253	CAT	.	.		0.537	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013	
ZMYM6	9204	hgsc.bcm.edu	37	1	35453298	35453298	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:35453298T>G	ENST00000357182.4	-	16	3612	c.3385A>C	c.(3385-3387)Agt>Cgt	p.S1129R	ZMYM6_ENST00000373340.2_Intron|ZMYM6NB_ENST00000373337.3_5'Flank|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR|RP11-244H3.1_ENST00000417456.1_RNA	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1129					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ccttggagacttaaatttaat	0.313																																					p.S1129R		Atlas-SNP	.											.	ZMYM6	110	.	0			c.A3385C						.						18.0	16.0	17.0					1																	35453298		1638	3737	5375	SO:0001583	missense	9204	exon16			GGAGACTTAAATT	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3385A>C	chr1.hg19:g.35453298T>G	ENSP00000349708:p.Ser1129Arg	481.0	0.0		398.0	23.0	NM_007167	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	hg19	CCDS387.2	.	.	.	.	.	.	.	.	.	.	T	14.23	2.474524	0.43942	.	.	ENSG00000163867	ENST00000357182	T	0.42131	0.98	4.88	2.6	0.31112	Ribonuclease H-like (1);	0.049163	0.85682	D	0.000000	T	0.36991	0.0987	L	0.52759	1.655	0.80722	D	1	P	0.45348	0.856	P	0.45506	0.483	T	0.11348	-1.0591	10	0.44086	T	0.13	-17.3568	6.0116	0.19580	0.0:0.2001:0.0:0.7999	.	1129	O95789	ZMYM6_HUMAN	R	1129	ENSP00000349708:S1129R	ENSP00000349708:S1129R	S	-	1	0	ZMYM6	35225885	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.447000	0.21710	0.997000	0.38969	0.528000	0.53228	AGT	.	.		0.313	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167	
GRIK3	2899	hgsc.bcm.edu	37	1	37282713	37282713	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:37282713G>A	ENST00000373091.3	-	13	2055	c.2039C>T	c.(2038-2040)aCc>aTc	p.T680I	GRIK3_ENST00000373093.4_Missense_Mutation_p.T680I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	680					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CTCGATTTTGGTTTGCTTGGC	0.557																																					p.T680I		Atlas-SNP	.											.	GRIK3	195	.	0			c.C2039T						.						143.0	116.0	125.0					1																	37282713		2203	4300	6503	SO:0001583	missense	2899	exon13			ATTTTGGTTTGCT	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2039C>T	chr1.hg19:g.37282713G>A	ENSP00000362183:p.Thr680Ile	162.0	0.0		147.0	14.0	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	hg19	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125940	0.94429	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.56103	0.48;0.48	6.16	6.16	0.99307	Ionotropic glutamate receptor (2);	0.242107	0.42548	D	0.000683	D	0.82586	0.5069	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86176	0.1603	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	680;680	A9Z1Z8;Q13003	.;GRIK3_HUMAN	I	680	ENSP00000362183:T680I;ENSP00000362185:T680I	ENSP00000362183:T680I	T	-	2	0	GRIK3	37055300	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	ACC	.	.		0.557	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
EIF2B3	8891	hgsc.bcm.edu	37	1	45407298	45407298	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:45407298C>T	ENST00000360403.2	-	4	460	c.334G>A	c.(334-336)Gtt>Att	p.V112I	EIF2B3_ENST00000372183.3_Missense_Mutation_p.V112I|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	112					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTAAGGCAACGTCTGTTATC	0.418																																					p.V112I	Colon(26;357 658 2581 11857 12657)	Atlas-SNP	.											EIF2B3,right_upper_lobe,carcinoma,0,1	EIF2B3	43	.	0			c.G334A						.						205.0	183.0	191.0					1																	45407298		2203	4300	6503	SO:0001583	missense	8891	exon4			AGGCAACGTCTGT	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.334G>A	chr1.hg19:g.45407298C>T	ENSP00000353575:p.Val112Ile	177.0	0.0		175.0	10.0	NM_020365	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	hg19	CCDS517.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608999	0.87258	.	.	ENSG00000070785	ENST00000360403;ENST00000372183;ENST00000372182	T;T;T	0.72942	-0.7;-0.7;-0.7	5.41	5.41	0.78517	Nucleotidyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.41573	1.285	0.80722	D	1	P;P;P	0.50943	0.925;0.94;0.625	B;B;B	0.43194	0.411;0.22;0.153	T	0.61332	-0.7084	10	0.09084	T	0.74	-24.9607	19.1869	0.93647	0.0:1.0:0.0:0.0	.	112;112;112	Q9NR50-2;Q9NR50-3;Q9NR50	.;.;EI2BG_HUMAN	I	112	ENSP00000353575:V112I;ENSP00000361257:V112I;ENSP00000361256:V112I	ENSP00000353575:V112I	V	-	1	0	EIF2B3	45179885	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.272000	0.78516	2.539000	0.85634	0.591000	0.81541	GTT	.	.		0.418	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365	
PTGER3	5733	hgsc.bcm.edu	37	1	71512486	71512486	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:71512486G>A	ENST00000306666.5	-	1	985	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	PTGER3_ENST00000414819.1_Missense_Mutation_p.R259C|PTGER3_ENST00000354608.5_Missense_Mutation_p.R259C|PTGER3_ENST00000460330.1_Missense_Mutation_p.R259C|PTGER3_ENST00000370932.2_Missense_Mutation_p.R259C|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000370924.4_Missense_Mutation_p.R259C|PTGER3_ENST00000370931.3_Missense_Mutation_p.R259C|PTGER3_ENST00000351052.5_Missense_Mutation_p.R259C|PTGER3_ENST00000356595.4_Missense_Mutation_p.R259C	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	259					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCCCGGCAGCGGGACACCAGG	0.622																																					p.R259C		Atlas-SNP	.											.	PTGER3	246	.	0			c.C775T						.						62.0	64.0	63.0					1																	71512486		2203	4300	6503	SO:0001583	missense	5733	exon1			GGCAGCGGGACAC	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.775C>T	chr1.hg19:g.71512486G>A	ENSP00000302313:p.Arg259Cys	102.0	0.0		94.0	63.0	NM_001126044	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	hg19	CCDS657.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152967	0.78001	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.70842	2.15	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	T	0.59434	-0.7455	10	0.51188	T	0.08	-30.2375	17.8095	0.88611	0.0:0.0:1.0:0.0	.	259;259;259;259;259;259;259;259	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	C	259	ENSP00000359969:R259C;ENSP00000359970:R259C;ENSP00000280208:R259C;ENSP00000418073:R259C;ENSP00000346624:R259C;ENSP00000349003:R259C;ENSP00000401423:R259C;ENSP00000302313:R259C;ENSP00000359962:R259C	ENSP00000302313:R259C	R	-	1	0	PTGER3	71285074	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.053000	0.64269	2.530000	0.85305	0.462000	0.41574	CGC	.	.		0.622	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	
TTLL7	79739	hgsc.bcm.edu	37	1	84417572	84417572	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:84417572T>A	ENST00000260505.8	-	3	490	c.113A>T	c.(112-114)aAg>aTg	p.K38M	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	38	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AATGGTTCCCTTCTTTTTCTT	0.363																																					p.K38M		Atlas-SNP	.											.	TTLL7	93	.	0			c.A113T						.						70.0	73.0	72.0					1																	84417572		2203	4299	6502	SO:0001583	missense	79739	exon3			GTTCCCTTCTTTT	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.113A>T	chr1.hg19:g.84417572T>A	ENSP00000260505:p.Lys38Met	200.0	0.0		203.0	10.0	NM_024686	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	hg19	CCDS690.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157621	0.78114	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.04454	3.62	5.21	4.08	0.47627	.	0.146882	0.64402	D	0.000011	T	0.02888	0.0086	L	0.29908	0.895	0.41443	D	0.987937	D	0.63880	0.993	P	0.50231	0.635	T	0.57004	-0.7885	10	0.38643	T	0.18	.	10.9898	0.47543	0.0:0.0741:0.0:0.9259	.	38	Q6ZT98	TTLL7_HUMAN	M	38	ENSP00000260505:K38M	ENSP00000260505:K38M	K	-	2	0	TTLL7	84190160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.618000	0.61211	0.926000	0.37118	0.533000	0.62120	AAG	.	.		0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686	
VAV3	10451	hgsc.bcm.edu	37	1	108185361	108185361	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:108185361C>A	ENST00000370056.4	-	20	2068	c.1794G>T	c.(1792-1794)caG>caT	p.Q598H	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Missense_Mutation_p.Q38H|VAV3_ENST00000527011.1_Missense_Mutation_p.Q598H|VAV3_ENST00000544443.1_Missense_Mutation_p.Q2H	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	598	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.Q598Q(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCCTAATGACCTGCATCTTTG	0.413																																					p.Q598H		Atlas-SNP	.											VAV3,caecum,carcinoma,0,1	VAV3	176	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1794T						.						115.0	109.0	111.0					1																	108185361		2203	4300	6503	SO:0001583	missense	10451	exon20			AATGACCTGCATC	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1794G>T	chr1.hg19:g.108185361C>A	ENSP00000359073:p.Gln598His	142.0	0.0		110.0	6.0	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	hg19	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.26|13.26	2.182883|2.182883	0.38511|0.38511	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432|ENST00000529809	T;T;T;T|.	0.08807|.	3.05;3.05;3.05;3.05|.	5.67|5.67	4.75|4.75	0.60458|0.60458	Src homology-3 domain (3);Variant SH3 (1);|.	0.326257|.	0.34386|.	N|.	0.004018|.	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.51537|.	0.564;0.633;0.946;0.531|.	P;P;P;P|.	0.56163|.	0.54;0.637;0.793;0.482|.	T|T	0.50311|0.50311	-0.8843|-0.8843	10|6	0.44086|0.87932	T|D	0.13|0	.|.	5.75|5.75	0.18142|0.18142	0.0:0.7368:0.0:0.2632|0.0:0.7368:0.0:0.2632	.|.	598;2;598;38|.	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3|.	.;.;VAV3_HUMAN;.|.	H|M	598;598;2;38|126	ENSP00000359073:Q598H;ENSP00000432540:Q598H;ENSP00000446404:Q2H;ENSP00000394897:Q38H|.	ENSP00000359073:Q598H|ENSP00000434944:R23M	Q|R	-|-	3|2	2|0	VAV3|VAV3	107986884|107986884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.331000|2.331000	0.43894|0.43894	2.682000|2.682000	0.91365|0.91365	0.555000|0.555000	0.69702|0.69702	CAG|AGG	.	.		0.413	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
PRR9	574414	hgsc.bcm.edu	37	1	153190630	153190630	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:153190630A>T	ENST00000368744.3	+	2	66	c.10A>T	c.(10-12)Agt>Tgt	p.S4C		NM_001195571.1	NP_001182500.1	Q5T870	PRR9_HUMAN	proline rich 9	4										prostate(1)	1						GATGTCCTTCAGTGAGCAGCA	0.502																																					p.S4C		Atlas-SNP	.											.	PRR9	1	.	0			c.A10T						.																																			SO:0001583	missense	574414	exon2			TCCTTCAGTGAGC	AL161636	CCDS55639.1	1q21.3	2008-07-02			ENSG00000203783	ENSG00000203783			32057	protein-coding gene	gene with protein product							Standard	NM_001195571		Approved		uc021ozw.1	Q5T870	OTTHUMG00000013936	ENST00000368744.3:c.10A>T	chr1.hg19:g.153190630A>T	ENSP00000357733:p.Ser4Cys	153.0	0.0		142.0	7.0	NM_001195571		Missense_Mutation	SNP	ENST00000368744.3	hg19	CCDS55639.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.118590	0.37436	.	.	ENSG00000203783	ENST00000368744	.	.	.	5.5	-0.0371	0.13885	.	0.865243	0.10087	N	0.717689	T	0.15046	0.0363	N	0.14661	0.345	0.09310	N	0.999999	.	.	.	.	.	.	T	0.30794	-0.9966	7	0.62326	D	0.03	-9.5443	12.419	0.55510	0.3885:0.6115:0.0:0.0	.	.	.	.	C	4	.	ENSP00000357733:S4C	S	+	1	0	PRR9	151457254	0.097000	0.21791	0.487000	0.27428	0.684000	0.39900	0.170000	0.16663	0.027000	0.15297	0.383000	0.25322	AGT	.	.		0.502	PRR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039105.1		
UBAP2L	9898	hgsc.bcm.edu	37	1	154226506	154226506	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:154226506A>T	ENST00000361546.2	+	14	1837	c.1795A>T	c.(1795-1797)Act>Tct	p.T599S	AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000343815.6_Missense_Mutation_p.T599S|UBAP2L_ENST00000428931.1_Missense_Mutation_p.T599S|UBAP2L_ENST00000271877.7_Missense_Mutation_p.T610S			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	599					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCCACACAGACTCGGCGGTA	0.502																																					p.T599S		Atlas-SNP	.											.	UBAP2L	197	.	0			c.A1795T						.						77.0	73.0	74.0					1																	154226506		2203	4300	6503	SO:0001583	missense	9898	exon15			ACACAGACTCGGC	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1795A>T	chr1.hg19:g.154226506A>T	ENSP00000355343:p.Thr599Ser	115.0	0.0		108.0	51.0	NM_001127320	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	hg19	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394832	0.42512	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.11277	2.83;2.86;2.79;2.86	5.05	5.05	0.67936	.	0.169187	0.51477	D	0.000091	T	0.09158	0.0226	N	0.16790	0.44	0.45390	D	0.998375	P;D;D;D;P	0.67145	0.956;0.996;0.974;0.974;0.956	P;D;D;D;P	0.73380	0.899;0.98;0.953;0.953;0.899	T	0.43048	-0.9415	10	0.20046	T	0.44	-7.603	14.1255	0.65217	1.0:0.0:0.0:0.0	.	513;610;592;599;599	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	S	599;599;95;95;610;599	ENSP00000345308:T599S;ENSP00000389445:T599S;ENSP00000271877:T610S;ENSP00000355343:T599S	ENSP00000271877:T610S	T	+	1	0	UBAP2L	152493130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.347000	0.79356	2.119000	0.64992	0.533000	0.62120	ACT	.	.		0.502	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
INSRR	3645	hgsc.bcm.edu	37	1	156816468	156816468	+	Silent	SNP	G	G	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:156816468G>C	ENST00000368195.3	-	8	2049	c.1653C>G	c.(1651-1653)ccC>ccG	p.P551P	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	551	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCGGCTTAGGGGCAGCTCCA	0.612																																					p.P551P		Atlas-SNP	.											.	INSRR	309	.	0			c.C1653G						.						80.0	71.0	74.0					1																	156816468		2203	4300	6503	SO:0001819	synonymous_variant	3645	exon8			GCTTAGGGGCAGC	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1653C>G	chr1.hg19:g.156816468G>C		122.0	0.0		124.0	48.0	NM_014215	O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	hg19	CCDS1160.1																																																																																			.	.		0.612	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
PRDX6	9588	hgsc.bcm.edu	37	1	173455515	173455515	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:173455515G>A	ENST00000340385.5	+	4	653	c.521G>A	c.(520-522)aGg>aAg	p.R174K	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	174					hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						GCAGAAAAAAGGGTTGCCACC	0.463																																					p.R174K		Atlas-SNP	.											.	PRDX6	20	.	0			c.G521A						.						129.0	136.0	134.0					1																	173455515		2203	4300	6503	SO:0001583	missense	9588	exon4			AAAAAAGGGTTGC	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.521G>A	chr1.hg19:g.173455515G>A	ENSP00000342026:p.Arg174Lys	149.0	0.0		154.0	61.0	NM_004905	A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	hg19	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	G	2.113	-0.403297	0.04832	.	.	ENSG00000117592	ENST00000340385	T	0.25250	1.81	5.63	0.844	0.18943	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.308219	0.38381	N	0.001709	T	0.00967	0.0032	N	0.00496	-1.435	0.21719	N	0.999573	B	0.02656	0.0	B	0.04013	0.001	T	0.38564	-0.9655	10	0.02654	T	1	-2.7912	0.7002	0.00906	0.1646:0.2039:0.2544:0.3771	.	174	P30041	PRDX6_HUMAN	K	174	ENSP00000342026:R174K	ENSP00000342026:R174K	R	+	2	0	PRDX6	171722138	0.959000	0.32827	0.120000	0.21714	0.534000	0.34807	1.310000	0.33551	0.346000	0.23899	-0.182000	0.12963	AGG	.	.		0.463	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905	
LEMD1	93273	hgsc.bcm.edu	37	1	205388368	205388368	+	Silent	SNP	A	A	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:205388368A>G	ENST00000367153.4	-	3	297	c.195T>C	c.(193-195)gaT>gaC	p.D65D	LEMD1_ENST00000367151.2_Intron|LEMD1_ENST00000476884.1_Intron|LEMD1_ENST00000367152.1_Intron|LEMD1_ENST00000391936.2_Silent_p.D65D|LEMD1_ENST00000367149.3_Intron|LEMD1_ENST00000367154.1_Silent_p.D65D	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	65						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CTTCGCTGTCATCACTGTCCT	0.463																																					p.D65D		Atlas-SNP	.											.	LEMD1	21	.	0			c.T195C						.						140.0	129.0	133.0					1																	205388368		2203	4300	6503	SO:0001819	synonymous_variant	93273	exon3			GCTGTCATCACTG		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"""cancer/testis antigen 50"""	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.195T>C	chr1.hg19:g.205388368A>G		90.0	0.0		94.0	32.0	NM_001001552	Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Silent	SNP	ENST00000367153.4	hg19	CCDS55679.1																																																																																			.	.		0.463	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	NM_001001552	
MIA3	375056	hgsc.bcm.edu	37	1	222801611	222801611	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:222801611A>G	ENST00000344922.5	+	4	1074	c.1049A>G	c.(1048-1050)tAt>tGt	p.Y350C	MIA3_ENST00000344507.1_Missense_Mutation_p.Y350C|MIA3_ENST00000344441.6_Missense_Mutation_p.Y350C|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	350					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTTGAGAAATATCCAACAGAT	0.398																																					p.Y350C		Atlas-SNP	.											.	MIA3	167	.	0			c.A1049G						.						82.0	77.0	79.0					1																	222801611		1839	4086	5925	SO:0001583	missense	375056	exon4			AGAAATATCCAAC		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1049A>G	chr1.hg19:g.222801611A>G	ENSP00000340900:p.Tyr350Cys	280.0	0.0		299.0	112.0	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	hg19	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591555	0.66219	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.42900	0.96;0.96;1.47	5.15	1.34	0.21922	.	.	.	.	.	T	0.50034	0.1592	L	0.54323	1.7	0.09310	N	1	D;D	0.76494	0.997;0.999	P;D	0.63488	0.821;0.915	T	0.34304	-0.9834	9	0.62326	D	0.03	.	3.8254	0.08852	0.6618:0.1363:0.0715:0.1303	.	350;350	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	C	350	ENSP00000340900:Y350C;ENSP00000340587:Y350C;ENSP00000341348:Y350C	ENSP00000325973:Y350C	Y	+	2	0	MIA3	220868234	0.000000	0.05858	0.000000	0.03702	0.564000	0.35744	0.690000	0.25451	0.033000	0.15463	0.373000	0.22412	TAT	.	.		0.398	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
PXDN	7837	hgsc.bcm.edu	37	2	1642646	1642646	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:1642646T>C	ENST00000252804.4	-	21	4228	c.4178A>G	c.(4177-4179)cAg>cGg	p.Q1393R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1393					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GATGGTCTTCTGCATTTCCAG	0.562																																					p.Q1393R		Atlas-SNP	.											.	PXDN	255	.	0			c.A4178G						.						138.0	142.0	141.0					2																	1642646		2090	4222	6312	SO:0001583	missense	7837	exon21			GTCTTCTGCATTT	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4178A>G	chr2.hg19:g.1642646T>C	ENSP00000252804:p.Gln1393Arg	78.0	0.0		73.0	30.0	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	hg19	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.163565	0.57476	.	.	ENSG00000130508	ENST00000252804	T	0.60424	0.19	5.43	5.43	0.79202	.	0.119539	0.56097	D	0.000021	T	0.53948	0.1828	L	0.55990	1.75	0.43234	D	0.995136	B	0.14805	0.011	B	0.18561	0.022	T	0.51702	-0.8672	10	0.44086	T	0.13	-41.3602	14.0045	0.64453	0.0:0.0:0.0:1.0	.	1393	Q92626	PXDN_HUMAN	R	1393	ENSP00000252804:Q1393R	ENSP00000252804:Q1393R	Q	-	2	0	PXDN	1621653	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.289000	0.78701	2.185000	0.69588	0.460000	0.39030	CAG	.	.		0.562	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
PRR30	339779	hgsc.bcm.edu	37	2	27360805	27360805	+	Silent	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:27360805G>T	ENST00000335524.3	-	3	918	c.393C>A	c.(391-393)tcC>tcA	p.S131S		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		131	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tctgaggctgggagggagaaa	0.622																																					p.S131S		Atlas-SNP	.											.	C2orf53	45	.	0			c.C393A						.						32.0	33.0	33.0					2																	27360805		2203	4300	6503	SO:0001819	synonymous_variant	339779	exon3			AGGCTGGGAGGGA																												ENST00000335524.3:c.393C>A	chr2.hg19:g.27360805G>T		86.0	0.0		88.0	34.0	NM_178553	Q86UE2	Silent	SNP	ENST00000335524.3	hg19	CCDS1739.1																																																																																			.	.		0.622	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1		
C2orf73	129852	hgsc.bcm.edu	37	2	54587449	54587449	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:54587449C>A	ENST00000398634.2	+	5	656	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	205										breast(2)	2						TCAGAACAGTCCAAAAAAACA	0.443																																					p.S205Y		Atlas-SNP	.											.	C2orf73	17	.	0			c.C614A						.						46.0	44.0	44.0					2																	54587449		1897	4116	6013	SO:0001583	missense	129852	exon5			AACAGTCCAAAAA	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.614C>A	chr2.hg19:g.54587449C>A	ENSP00000381631:p.Ser205Tyr	173.0	0.0		171.0	77.0	NM_001100396	A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	hg19	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471324	0.84533	.	.	ENSG00000177994	ENST00000486488;ENST00000398634;ENST00000447328	T;T;T	0.32753	1.44;1.44;1.44	5.35	5.35	0.76521	.	0.469117	0.19565	N	0.111237	T	0.47710	0.1460	L	0.51422	1.61	0.34661	D	0.722634	D;D	0.59767	0.986;0.986	P;P	0.57152	0.742;0.814	T	0.58081	-0.7699	10	0.72032	D	0.01	-27.7261	19.4212	0.94721	0.0:1.0:0.0:0.0	.	147;205	B7ZM12;Q8N5S3	.;CB073_HUMAN	Y	211;205;147	ENSP00000417971:S211Y;ENSP00000381631:S205Y;ENSP00000389570:S147Y	ENSP00000381631:S205Y	S	+	2	0	C2orf73	54440953	0.461000	0.25783	0.976000	0.42696	0.977000	0.68977	3.871000	0.56077	2.660000	0.90430	0.650000	0.86243	TCC	.	.		0.443	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396	
REV1	51455	hgsc.bcm.edu	37	2	100050856	100050856	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:100050856G>A	ENST00000258428.3	-	8	1604	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P459L	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	459	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTAGCGCCAGGACGTAAAGG	0.443								Direct reversal of damage																													p.P459L		Atlas-SNP	.											.	REV1	100	.	0			c.C1376T						.						83.0	86.0	85.0					2																	100050856		2203	4300	6503	SO:0001583	missense	51455	exon8			GCGCCAGGACGTA	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1376C>T	chr2.hg19:g.100050856G>A	ENSP00000258428:p.Pro459Leu	100.0	0.0		96.0	40.0	NM_001037872	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	hg19	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528522	0.85706	.	.	ENSG00000135945	ENST00000393445;ENST00000258428;ENST00000450415	T;T;T	0.48836	1.54;1.54;0.8	5.58	5.58	0.84498	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.099917	0.64402	D	0.000001	T	0.66197	0.2765	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.964;0.981	T	0.68269	-0.5453	10	0.72032	D	0.01	.	14.423	0.67196	0.0:0.0:0.8526:0.1474	.	459;459	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	L	459;459;97	ENSP00000377091:P459L;ENSP00000258428:P459L;ENSP00000414875:P97L	ENSP00000258428:P459L	P	-	2	0	REV1	99417288	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.436000	0.73417	2.626000	0.88956	0.561000	0.74099	CCT	.	.		0.443	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
MYO7B	4648	hgsc.bcm.edu	37	2	128366406	128366406	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:128366406C>T	ENST00000409816.2	+	21	2799	c.2767C>T	c.(2767-2769)Cct>Tct	p.P923S	MYO7B_ENST00000389524.4_Missense_Mutation_p.P923S|MYO7B_ENST00000428314.1_Missense_Mutation_p.P923S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	923						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGGCTTCCTCCCTGCCATGAT	0.627																																					p.P923S		Atlas-SNP	.											.	MYO7B	359	.	0			c.C2767T						.						33.0	40.0	38.0					2																	128366406		2094	4203	6297	SO:0001583	missense	4648	exon22			TTCCTCCCTGCCA		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2767C>T	chr2.hg19:g.128366406C>T	ENSP00000386461:p.Pro923Ser	158.0	0.0		211.0	99.0	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	hg19	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975962	0.74360	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87809	-2.3;-2.29;-2.29	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.87649	0.6230	L	0.61387	1.9	0.54753	D	0.999989	D	0.54397	0.966	P	0.45794	0.493	D	0.86403	0.1743	10	0.30854	T	0.27	.	18.8763	0.92337	0.0:1.0:0.0:0.0	.	923	Q6PIF6	MYO7B_HUMAN	S	923	ENSP00000374175:P923S;ENSP00000415090:P923S;ENSP00000386461:P923S	ENSP00000374175:P923S	P	+	1	0	MYO7B	128082876	0.046000	0.20272	0.921000	0.36526	0.955000	0.61496	0.755000	0.26405	2.548000	0.85928	0.462000	0.41574	CCT	.	.		0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
NXPH2	11249	hgsc.bcm.edu	37	2	139429158	139429158	+	Silent	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:139429158C>T	ENST00000272641.3	-	2	235	c.129G>A	c.(127-129)ttG>ttA	p.L43L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	43	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CGTTGCCGACCAACGTCCCTG	0.542																																					p.L43L		Atlas-SNP	.											.	NXPH2	63	.	0			c.G129A						.						92.0	92.0	92.0					2																	139429158		1980	4173	6153	SO:0001819	synonymous_variant	11249	exon2			GCCGACCAACGTC	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.129G>A	chr2.hg19:g.139429158C>T		112.0	0.0		143.0	57.0	NM_007226	B7WP24|Q494R1|Q75QC3	Silent	SNP	ENST00000272641.3	hg19	CCDS46421.1																																																																																			.	.		0.542	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1		
LRP1B	53353	hgsc.bcm.edu	37	2	141739748	141739748	+	Silent	SNP	T	T	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:141739748T>A	ENST00000389484.3	-	18	3839	c.2868A>T	c.(2866-2868)acA>acT	p.T956T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	956	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTTCATCTGTCTGGTCAC	0.473										TSP Lung(27;0.18)																											p.T956T	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.A2868T						.						147.0	128.0	134.0					2																	141739748		2203	4300	6503	SO:0001819	synonymous_variant	53353	exon18			TTCATCTGTCTGG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2868A>T	chr2.hg19:g.141739748T>A		97.0	0.0		83.0	26.0	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	hg19	CCDS2182.1																																																																																			.	.		0.473	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
MBD5	55777	hgsc.bcm.edu	37	2	149267693	149267693	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:149267693A>G	ENST00000407073.1	+	14	5399	c.4402A>G	c.(4402-4404)Atg>Gtg	p.M1468V	MBD5_ENST00000404807.1_Missense_Mutation_p.M1701V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1468					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACTGGACAAAATGTCTGGGAC	0.313																																					p.M1468V		Atlas-SNP	.											.	MBD5	164	.	0			c.A4402G						.						98.0	101.0	100.0					2																	149267693		2203	4299	6502	SO:0001583	missense	55777	exon14			GACAAAATGTCTG	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4402A>G	chr2.hg19:g.149267693A>G	ENSP00000386049:p.Met1468Val	399.0	0.0		368.0	144.0	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	hg19	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.856558	0.51376	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.68903	-0.36;-0.36	5.41	5.41	0.78517	.	0.067384	0.64402	D	0.000006	T	0.63920	0.2552	L	0.53249	1.67	0.51233	D	0.999919	B;B	0.12013	0.005;0.005	B;B	0.14578	0.008;0.011	T	0.61931	-0.6961	10	0.54805	T	0.06	-6.8787	15.7403	0.77891	1.0:0.0:0.0:0.0	.	1701;1468	E9PHH0;Q9P267	.;MBD5_HUMAN	V	1468;1701	ENSP00000386049:M1468V;ENSP00000384672:M1701V	ENSP00000384672:M1701V	M	+	1	0	MBD5	148984163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.714000	0.91412	2.173000	0.68751	0.528000	0.53228	ATG	.	.		0.313	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
SCN1A	6323	hgsc.bcm.edu	37	2	166868648	166868648	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:166868648A>T	ENST00000303395.4	-	19	3849	c.3850T>A	c.(3850-3852)Tgg>Agg	p.W1284R	SCN1A_ENST00000375405.3_Missense_Mutation_p.W1273R|SCN1A_ENST00000409050.1_Missense_Mutation_p.W1256R|SCN1A_ENST00000423058.2_Missense_Mutation_p.W1284R|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1284					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCCAACACCAGGCATTGGTG	0.348																																					p.W1284R		Atlas-SNP	.											.	SCN1A	641	.	0			c.T3850A						.						107.0	97.0	100.0					2																	166868648		2203	4299	6502	SO:0001583	missense	6323	exon19			AACACCAGGCATT	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3850T>A	chr2.hg19:g.166868648A>T	ENSP00000303540:p.Trp1284Arg	330.0	0.0		285.0	105.0	NM_001165963	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	hg19	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442580	0.83993	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.53938	D	0.000044	D	0.99753	0.9901	H	0.99986	5.255	0.80722	D	1	P;D;D	0.89917	0.94;0.999;1.0	P;D;D	0.97110	0.622;0.998;1.0	D	0.96409	0.9303	10	0.87932	D	0	.	15.3795	0.74641	1.0:0.0:0.0:0.0	.	1273;1256;1284	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	R	1284;1284;1273;1256	ENSP00000407030:W1284R;ENSP00000303540:W1284R;ENSP00000364554:W1273R;ENSP00000386312:W1256R	ENSP00000303540:W1284R	W	-	1	0	SCN1A	166576894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.284000	0.95882	2.029000	0.59856	0.455000	0.32223	TGG	.	.		0.348	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
XIRP2	129446	hgsc.bcm.edu	37	2	168115577	168115577	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:168115577G>A	ENST00000409728.1	+	11	2709	c.2620G>A	c.(2620-2622)Gtg>Atg	p.V874M	XIRP2_ENST00000420519.1_Missense_Mutation_p.V874M|XIRP2_ENST00000409043.1_Missense_Mutation_p.V841M|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.V619M|XIRP2_ENST00000409756.2_Missense_Mutation_p.V841M|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCTAACACCGTGAAAATCAC	0.308																																					p.V874M		Atlas-SNP	.											.	XIRP2	914	.	0			c.G2620A						.						28.0	27.0	27.0					2																	168115577		1807	4077	5884	SO:0001583	missense	129446	exon11			AACACCGTGAAAA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2620G>A	chr2.hg19:g.168115577G>A	ENSP00000386619:p.Val874Met	550.0	1.0		488.0	185.0	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	hg19	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344134	0.24339	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	D;D;D;D;D	0.85339	-1.89;-1.88;-1.89;-1.88;-1.97	5.66	2.88	0.33553	.	.	.	.	.	T	0.70334	0.3212	.	.	.	0.80722	D	1	P;P	0.45569	0.861;0.861	B;B	0.31016	0.123;0.123	T	0.64964	-0.6283	8	0.31617	T	0.26	.	6.8616	0.24069	0.2165:0.1834:0.6001:0.0	.	841;874	A4UGR9-4;A4UGR9-6	.;.	M	841;874;841;874;619	ENSP00000386454:V841M;ENSP00000386619:V874M;ENSP00000386724:V841M;ENSP00000415541:V874M;ENSP00000386981:V619M	ENSP00000386454:V841M	V	+	1	0	XIRP2	167823823	0.272000	0.24172	0.997000	0.53966	0.940000	0.58332	0.376000	0.20535	0.757000	0.33036	0.555000	0.69702	GTG	.	.		0.308	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
UBR3	130507	hgsc.bcm.edu	37	2	170806382	170806382	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:170806382T>G	ENST00000272793.5	+	23	3402	c.3352T>G	c.(3352-3354)Tta>Gta	p.L1118V	UBR3_ENST00000418381.1_Missense_Mutation_p.L1118V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1118					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CATAGAAATTTTAATCCAACC	0.348																																					p.L1118V		Atlas-SNP	.											.	UBR3	182	.	0			c.T3352G						.						97.0	81.0	86.0					2																	170806382		692	1591	2283	SO:0001583	missense	130507	exon23			GAAATTTTAATCC	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3352T>G	chr2.hg19:g.170806382T>G	ENSP00000272793:p.Leu1118Val	253.0	0.0		289.0	138.0	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.37|17.37	3.373614|3.373614	0.61624|0.61624	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000392632|ENST00000272793;ENST00000442603;ENST00000418381	.|T;T	.|0.53857	.|0.6;0.6	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|.	.|.	.|.	.|.	T|T	0.53932|0.53932	0.1827|0.1827	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P	.|0.52842	.|0.956	.|D	.|0.65010	.|0.931	T|T	0.51268|0.51268	-0.8727|-0.8727	5|9	.|0.27082	.|T	.|0.32	.|.	10.3543|10.3543	0.43954|0.43954	0.0:0.0727:0.0:0.9273|0.0:0.0727:0.0:0.9273	.|.	.|1118	.|Q6ZT12	.|UBR3_HUMAN	L|V	175|1118	.|ENSP00000272793:L1118V;ENSP00000396068:L1118V	.|ENSP00000272793:L1118V	F|L	+|+	3|1	2|2	UBR3|UBR3	170514628|170514628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.253000|2.253000	0.43205|0.43205	2.191000|2.191000	0.70037|0.70037	0.528000|0.528000	0.53228|0.53228	TTT|TTA	.	.		0.348	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
NABP1	64859	hgsc.bcm.edu	37	2	192546742	192546742	+	Splice_Site	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:192546742G>T	ENST00000425611.2	+	3	384	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	NABP1_ENST00000410026.2_Splice_Site_p.E21*|NABP1_ENST00000409510.1_Splice_Site_p.E21*	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	101					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)										AAAAATTGGGGAGTAAGTATT	0.318																																					p.E101X		Atlas-SNP	.											.	.	.	.	0			c.G301T						.						55.0	57.0	56.0					2																	192546742		2202	4295	6497	SO:0001630	splice_region_variant	64859	exon3			ATTGGGGAGTAAG	BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"""single-stranded DNA-binding protein 2"", ""sensor of single-strand DNA complex subunit B2"""	612103	"""oligonucleotide/oligosaccharide-binding fold containing 2A"""	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.302+1G>T	chr2.hg19:g.192546742G>T		787.0	1.0		694.0	273.0	NM_001031716	Q658Y8|Q9H5X6	Nonsense_Mutation	SNP	ENST00000425611.2	hg19	CCDS33352.1	.	.	.	.	.	.	.	.	.	.	G	37	6.151667	0.97329	.	.	ENSG00000173559	ENST00000410026;ENST00000409510;ENST00000425611	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	.	.	.	X	21;21;101	.	ENSP00000386605:E21X	E	+	1	0	OBFC2A	192254987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.726000	0.93360	0.655000	0.94253	GAA	.	.		0.318	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837	Nonsense_Mutation
AOX1	316	hgsc.bcm.edu	37	2	201521589	201521589	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:201521589C>T	ENST00000374700.2	+	27	3341	c.3100C>T	c.(3100-3102)Ctt>Ttt	p.L1034F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1034					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCACATTTATCTTGATGGCTC	0.408																																					p.L1034F		Atlas-SNP	.											.	AOX1	152	.	0			c.C3100T						.						111.0	102.0	105.0					2																	201521589		2203	4300	6503	SO:0001583	missense	316	exon27			ATTTATCTTGATG	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3100C>T	chr2.hg19:g.201521589C>T	ENSP00000363832:p.Leu1034Phe	123.0	0.0		96.0	30.0	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	hg19	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082548	0.36758	.	.	ENSG00000138356	ENST00000374700	T	0.37235	1.21	5.41	2.46	0.29980	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.359640	0.29783	N	0.011218	T	0.47600	0.1454	M	0.76002	2.32	0.09310	N	0.999999	P	0.50156	0.932	P	0.57425	0.82	T	0.36939	-0.9727	10	0.56958	D	0.05	-5.4518	4.0635	0.09849	0.3376:0.4169:0.0:0.2455	.	1034	Q06278	ADO_HUMAN	F	1034	ENSP00000363832:L1034F	ENSP00000363832:L1034F	L	+	1	0	AOX1	201229834	0.928000	0.31464	0.038000	0.18304	0.588000	0.36517	2.053000	0.41326	0.324000	0.23333	-0.367000	0.07326	CTT	.	.		0.408	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
FN1	2335	hgsc.bcm.edu	37	2	216261901	216261901	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:216261901G>T	ENST00000359671.1	-	23	3828	c.3563C>A	c.(3562-3564)aCt>aAt	p.T1188N	FN1_ENST00000446046.1_Missense_Mutation_p.T1188N|FN1_ENST00000357867.4_Missense_Mutation_p.T1188N|FN1_ENST00000345488.5_Missense_Mutation_p.T1188N|FN1_ENST00000357009.2_Missense_Mutation_p.T1188N|FN1_ENST00000421182.1_Missense_Mutation_p.T1188N|FN1_ENST00000346544.3_Missense_Mutation_p.T1188N|FN1_ENST00000336916.4_Missense_Mutation_p.T1188N|FN1_ENST00000323926.6_Missense_Mutation_p.T1188N|FN1_ENST00000443816.1_Missense_Mutation_p.T1188N|FN1_ENST00000354785.4_Missense_Mutation_p.T1188N|FN1_ENST00000356005.4_Missense_Mutation_p.T1188N|FN1_ENST00000432072.2_Missense_Mutation_p.T1188N			P02751	FINC_HUMAN	fibronectin 1	1188	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GAGCACTCCAGTGTCAGGGTT	0.473																																					p.T1188N		Atlas-SNP	.											.	FN1	521	.	0			c.C3563A						.						197.0	195.0	195.0					2																	216261901		2203	4300	6503	SO:0001583	missense	2335	exon23			ACTCCAGTGTCAG		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3563C>A	chr2.hg19:g.216261901G>T	ENSP00000352696:p.Thr1188Asn	104.0	0.0		93.0	32.0	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.32	2.203299	0.38905	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.45;0.41;0.41;0.45;0.41;0.41;0.45;0.41;0.41;0.41;0.45;0.41;0.45	5.62	4.73	0.59995	.	0.256048	0.33895	N	0.004442	T	0.59376	0.2189	N	0.21545	0.675	0.54753	D	0.999981	D;B;P;D;P;B;D;D;D;D	0.76494	0.984;0.14;0.79;0.998;0.932;0.136;0.999;0.985;0.992;0.998	P;B;P;D;P;B;D;D;D;D	0.79108	0.839;0.139;0.614;0.922;0.672;0.082;0.992;0.989;0.989;0.974	T	0.61103	-0.7130	10	0.40728	T	0.16	.	16.0028	0.80308	0.0:0.0:0.8643:0.1357	.	1188;1188;1188;1188;1188;1188;1188;1188;1188;1188	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	N	1188	ENSP00000394423:T1188N;ENSP00000323534:T1188N;ENSP00000338200:T1188N;ENSP00000350534:T1188N;ENSP00000346839:T1188N;ENSP00000352696:T1188N;ENSP00000265312:T1188N;ENSP00000273049:T1188N;ENSP00000349509:T1188N;ENSP00000410422:T1188N;ENSP00000415018:T1188N;ENSP00000399538:T1188N;ENSP00000348285:T1188N	ENSP00000265313:T1188N	T	-	2	0	FN1	215970146	1.000000	0.71417	0.965000	0.40720	0.083000	0.17756	5.954000	0.70298	1.469000	0.48083	0.585000	0.79938	ACT	.	.		0.473	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
GIGYF2	26058	hgsc.bcm.edu	37	2	233709124	233709124	+	Missense_Mutation	SNP	A	A	G	rs371374687		TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:233709124A>G	ENST00000409547.1	+	27	3456	c.3145A>G	c.(3145-3147)Ata>Gta	p.I1049V	GIGYF2_ENST00000409196.3_Missense_Mutation_p.I1043V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.I1071V|GIGYF2_ENST00000452341.2_3'UTR|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I1049V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I1070V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.I1071V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1049					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGGGGCTCTATAAATACTGG	0.398																																					p.I1070V		Atlas-SNP	.											.	GIGYF2	288	.	0			c.A3208G						.	A	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	101.0	100.0	100.0		3145,3127,3208,3145	2.2	1.0	2		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GIGYF2	NM_015575.3,NM_001103148.1,NM_001103147.1,NM_001103146.1	29,29,29,29	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	benign,benign,benign,benign	1049/1300,1043/1294,1070/1321,1049/1300	233709124	2,13004	2203	4300	6503	SO:0001583	missense	26058	exon27			GGCTCTATAAATA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3145A>G	chr2.hg19:g.233709124A>G	ENSP00000386537:p.Ile1049Val	138.0	0.0		144.0	59.0	NM_001103147	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	hg19	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	5.324	0.245083	0.10077	2.27E-4	1.16E-4	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000426102	T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;1.34	5.82	2.24	0.28232	.	0.205159	0.51477	D	0.000090	T	0.34366	0.0895	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.03025	-1.1081	10	0.19147	T	0.46	-13.0994	1.7782	0.03026	0.4742:0.2433:0.1743:0.1082	.	1070;1049;1043	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	V	1071;1049;1071;1049;1043;1070;78	ENSP00000362667:I1071V;ENSP00000362664:I1049V;ENSP00000386765:I1071V;ENSP00000386537:I1049V;ENSP00000387070:I1043V;ENSP00000387170:I1070V;ENSP00000415037:I78V	ENSP00000362664:I1049V	I	+	1	0	GIGYF2	233417368	0.972000	0.33761	0.991000	0.47740	0.580000	0.36256	1.455000	0.35190	0.466000	0.27193	-0.379000	0.06801	ATA	.	.		0.398	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
UGT1A3	54659	hgsc.bcm.edu	37	2	234638551	234638551	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr2:234638551A>G	ENST00000482026.1	+	1	798	c.779A>G	c.(778-780)gAc>gGc	p.D260G	UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.D260G|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	260					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TTCCGAGGGGACTTTGTGATG	0.502																																					p.D260G		Atlas-SNP	.											.	UGT1A3	91	.	0			c.A779G						.						199.0	197.0	197.0					2																	234638551		2203	4300	6503	SO:0001583	missense	54659	exon1			GAGGGGACTTTGT	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.779A>G	chr2.hg19:g.234638551A>G	ENSP00000418532:p.Asp260Gly	150.0	0.0		142.0	47.0	NM_019093	B8K287	Missense_Mutation	SNP	ENST00000482026.1	hg19	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	a	19.77	3.888640	0.72524	.	.	ENSG00000243135	ENST00000482026	T	0.61510	0.1	3.91	3.91	0.45181	.	.	.	.	.	T	0.78515	0.4295	M	0.94021	3.485	0.48511	D	0.999669	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80585	-0.1317	9	0.12766	T	0.61	.	12.7681	0.57403	1.0:0.0:0.0:0.0	.	260;260	Q5DT01;P35503	.;UD13_HUMAN	G	260	ENSP00000418532:D260G	ENSP00000418532:D260G	D	+	2	0	UGT1A3	234303290	1.000000	0.71417	0.980000	0.43619	0.947000	0.59692	9.145000	0.94634	1.414000	0.47017	0.373000	0.22412	GAC	.	.		0.502	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093	
DENND6A	201627	hgsc.bcm.edu	37	3	57646534	57646534	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr3:57646534C>A	ENST00000311128.5	-	7	722	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L		NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	218					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TTCCCTGGCACTGGGGCAGGC	0.303																																					p.V218L		Atlas-SNP	.											.	.	.	.	0			c.G652T						.						43.0	43.0	43.0					3																	57646534		2203	4300	6503	SO:0001583	missense	201627	exon7			CTGGCACTGGGGC	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.652G>T	chr3.hg19:g.57646534C>A	ENSP00000311401:p.Val218Leu	1511.0	1.0		1369.0	553.0	NM_152678	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	hg19	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.02|10.02	1.236027|1.236027	0.22626|0.22626	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000477344|ENST00000311128	.|.	.|.	.|.	5.02|5.02	2.21|2.21	0.28008|0.28008	.|.	.|0.402362	.|0.27253	.|N	.|0.020215	T|T	0.40448|0.40448	0.1117|0.1117	L|L	0.38531|0.38531	1.155|1.155	0.35302|0.35302	D|D	0.783112|0.783112	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.37361|0.37361	-0.9709|-0.9709	5|9	.|0.08381	.|T	.|0.77	-12.2775|-12.2775	9.9256|9.9256	0.41489|0.41489	0.0:0.7715:0.0:0.2285|0.0:0.7715:0.0:0.2285	.|.	.|218	.|Q8IWF6	.|F116A_HUMAN	I|L	7|218	.|.	.|ENSP00000311401:V218L	S|V	-|-	2|1	0|0	FAM116A|FAM116A	57621574|57621574	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	0.870000|0.870000	0.28010|0.28010	0.515000|0.515000	0.28320|0.28320	0.460000|0.460000	0.39030|0.39030	AGT|GTG	.	.		0.303	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	
EAF2	55840	hgsc.bcm.edu	37	3	121573668	121573668	+	Silent	SNP	A	A	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr3:121573668A>C	ENST00000273668.2	+	3	407	c.336A>C	c.(334-336)acA>acC	p.T112T	EAF2_ENST00000451944.2_Silent_p.T112T	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	112					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TAAAAAAAACAAGGTATGTGG	0.249																																					p.T112T	Esophageal Squamous(194;1942 2097 24663 29345 31866)	Atlas-SNP	.											.	EAF2	26	.	0			c.A336C						.						43.0	48.0	46.0					3																	121573668		2201	4295	6496	SO:0001819	synonymous_variant	55840	exon3			AAAAACAAGGTAT	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.336A>C	chr3.hg19:g.121573668A>C		729.0	0.0		693.0	267.0	NM_018456	Q9NZ82	Silent	SNP	ENST00000273668.2	hg19	CCDS3006.1																																																																																			.	.		0.249	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456	
MUC13	56667	hgsc.bcm.edu	37	3	124635177	124635177	+	Silent	SNP	A	A	G	rs370885108		TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr3:124635177A>G	ENST00000311075.3	-	6	986	c.948T>C	c.(946-948)ttT>ttC	p.F316F		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	317	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CATAGTTTAGAAAGTTGCTTG	0.308																																					p.F316F		Atlas-SNP	.											.	MUC13	57	.	0			c.T948C						.						95.0	90.0	92.0					3																	124635177		2202	4299	6501	SO:0001819	synonymous_variant	56667	exon6			GTTTAGAAAGTTG	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.948T>C	chr3.hg19:g.124635177A>G		214.0	0.0		217.0	100.0	NM_033049	Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	hg19																																																																																				.	.		0.308	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049	
COL6A6	131873	hgsc.bcm.edu	37	3	130380832	130380832	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr3:130380832T>C	ENST00000358511.6	+	34	6213	c.6182T>C	c.(6181-6183)aTt>aCt	p.I2061T	COL6A6_ENST00000453409.2_Missense_Mutation_p.I2061T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2061	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GATGCTTTTATTGGTCATGCC	0.418																																					p.I2061T		Atlas-SNP	.											.	COL6A6	497	.	0			c.T6182C						.						91.0	89.0	89.0					3																	130380832		1896	4134	6030	SO:0001583	missense	131873	exon34			CTTTTATTGGTCA	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6182T>C	chr3.hg19:g.130380832T>C	ENSP00000351310:p.Ile2061Thr	111.0	0.0		133.0	49.0	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.268604	0.40095	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.81330	-1.48;-1.48	6.04	6.04	0.98038	von Willebrand factor, type A (3);	.	.	.	.	T	0.71484	0.3345	N	0.21583	0.68	0.09310	N	1	B;B	0.21520	0.027;0.057	B;B	0.28385	0.024;0.089	T	0.54330	-0.8310	9	0.11794	T	0.64	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	2061;2061	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	T	2061	ENSP00000351310:I2061T;ENSP00000399236:I2061T	ENSP00000351310:I2061T	I	+	2	0	COL6A6	131863522	0.114000	0.22134	0.007000	0.13788	0.896000	0.52359	3.251000	0.51453	2.317000	0.78254	0.459000	0.35465	ATT	.	.		0.418	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
ESYT3	83850	hgsc.bcm.edu	37	3	138183192	138183192	+	Silent	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr3:138183192G>A	ENST00000389567.4	+	9	1107	c.921G>A	c.(919-921)gtG>gtA	p.V307V		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	307	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TCCAGGGGGTGATCAGAGTGC	0.587																																					p.V307V		Atlas-SNP	.											.	ESYT3	64	.	0			c.G921A						.						51.0	53.0	52.0					3																	138183192		2203	4300	6503	SO:0001819	synonymous_variant	83850	exon9			GGGGGTGATCAGA	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.921G>A	chr3.hg19:g.138183192G>A		74.0	0.0		63.0	23.0	NM_031913	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	ENST00000389567.4	hg19	CCDS3101.2																																																																																			.	.		0.587	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	
CCDC39	339829	hgsc.bcm.edu	37	3	180377348	180377348	+	Silent	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr3:180377348T>C	ENST00000442201.2	-	6	749	c.630A>G	c.(628-630)gcA>gcG	p.A210A	CCDC39_ENST00000273654.4_Silent_p.A294A	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	210					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAAAATCTTGTGCTGCTTTAT	0.328																																					p.A210A		Atlas-SNP	.											.	CCDC39	242	.	0			c.A630G						.						246.0	224.0	231.0					3																	180377348		1866	4106	5972	SO:0001819	synonymous_variant	339829	exon6			ATCTTGTGCTGCT	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.630A>G	chr3.hg19:g.180377348T>C		177.0	0.0		123.0	49.0	NM_181426	B4E2H1	Silent	SNP	ENST00000442201.2	hg19	CCDS46964.1																																																																																			.	.		0.328	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
KIAA0226	9711	hgsc.bcm.edu	37	3	197409349	197409349	+	Silent	SNP	T	T	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr3:197409349T>A	ENST00000296343.5	-	14	2117	c.2118A>T	c.(2116-2118)ccA>ccT	p.P706P	KIAA0226_ENST00000273582.5_Silent_p.P661P|KIAA0226_ENST00000389665.5_Silent_p.P731P	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	706					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACGTTGGGGCTGGATGAACAT	0.562																																					p.P706P	Esophageal Squamous(3;167 355 3763 15924)	Atlas-SNP	.											.	KIAA0226	136	.	0			c.A2118T						.						31.0	37.0	35.0					3																	197409349		1970	4152	6122	SO:0001819	synonymous_variant	9711	exon14			TGGGGCTGGATGA	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2118A>T	chr3.hg19:g.197409349T>A		165.0	0.0		129.0	54.0	NM_014687	Q96CK5	Silent	SNP	ENST00000296343.5	hg19	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.06|11.06	1.526432|1.526432	0.27299|0.27299	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000413360	.|.	.|.	.|.	5.56|5.56	0.231|0.231	0.15377|0.15377	.|.	.|.	.|.	.|.	.|.	T|T	0.40791|0.40791	0.1131|0.1131	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27971|0.27971	-1.0058|-1.0058	4|4	.|.	.|.	.|.	.|.	1.2423|1.2423	0.01965|0.01965	0.207:0.2021:0.1064:0.4846|0.207:0.2021:0.1064:0.4846	.|.	.|.	.|.	.|.	L|C	490|668	.|.	.|.	Q|S	-|-	2|1	0|0	KIAA0226|KIAA0226	198893746|198893746	0.272000|0.272000	0.24172|0.24172	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	-0.458000|-0.458000	0.06737|0.06737	0.428000|0.428000	0.26173|0.26173	-0.258000|-0.258000	0.10820|0.10820	CAG|AGC	.	.		0.562	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	
KIAA0226	9711	hgsc.bcm.edu	37	3	197409351	197409351	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr3:197409351G>A	ENST00000296343.5	-	14	2115	c.2116C>T	c.(2116-2118)Cca>Tca	p.P706S	KIAA0226_ENST00000273582.5_Missense_Mutation_p.P661S|KIAA0226_ENST00000389665.5_Missense_Mutation_p.P731S	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	706					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTTGGGGCTGGATGAACATTA	0.567																																					p.P706S	Esophageal Squamous(3;167 355 3763 15924)	Atlas-SNP	.											.	KIAA0226	136	.	0			c.C2116T						.						32.0	37.0	36.0					3																	197409351		1970	4155	6125	SO:0001583	missense	9711	exon14			GGGCTGGATGAAC	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2116C>T	chr3.hg19:g.197409351G>A	ENSP00000296343:p.Pro706Ser	166.0	0.0		135.0	54.0	NM_014687	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	hg19	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.52|15.52	2.858421|2.858421	0.51376|0.51376	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665|ENST00000413360	.|.	.|.	.|.	5.56|5.56	4.69|4.69	0.59074|0.59074	.|.	0.123169|.	0.56097|.	N|.	0.000033|.	T|T	0.61974|0.61974	0.2390|0.2390	M|M	0.67625|0.67625	2.065|2.065	0.49130|0.49130	D|D	0.999754|0.999754	P;B;P|.	0.35348|.	0.488;0.165;0.496|.	B;B;B|.	0.37267|.	0.209;0.086;0.245|.	T|T	0.61540|0.61540	-0.7042|-0.7042	9|5	0.45353|.	T|.	0.12|.	.|.	6.7282|6.7282	0.23369|0.23369	0.146:0.0:0.7104:0.1436|0.146:0.0:0.7104:0.1436	.|.	731;661;706|.	Q92622-3;Q92622-2;Q92622|.	.;.;RUBIC_HUMAN|.	S|F	661;706;731|667	.|.	ENSP00000273582:P661S|.	P|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198893748|198893748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.467000|3.467000	0.53078|0.53078	1.360000|1.360000	0.45960|0.45960	0.655000|0.655000	0.94253|0.94253	CCA|TCC	.	.		0.567	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	
KIAA0232	9778	hgsc.bcm.edu	37	4	6865250	6865250	+	Silent	SNP	A	A	G	rs549270762		TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr4:6865250A>G	ENST00000307659.5	+	7	3596	c.3141A>G	c.(3139-3141)ccA>ccG	p.P1047P	KIAA0232_ENST00000425103.1_Silent_p.P1047P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1047							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TAAGCAATCCATTTTCACAAG	0.388													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20559	0.0		0.0	False		,,,				2504	0.0				p.P1047P		Atlas-SNP	.											.	KIAA0232	102	.	0			c.A3141G						.						78.0	73.0	75.0					4																	6865250		1849	4101	5950	SO:0001819	synonymous_variant	9778	exon7			CAATCCATTTTCA	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3141A>G	chr4.hg19:g.6865250A>G		123.0	0.0		127.0	43.0	NM_014743	A7E2D2	Silent	SNP	ENST00000307659.5	hg19	CCDS43209.1																																																																																			.	.		0.388	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	
NSUN7	79730	hgsc.bcm.edu	37	4	40809188	40809188	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr4:40809188T>C	ENST00000381782.2	+	11	2006	c.1511T>C	c.(1510-1512)aTt>aCt	p.I504T	NSUN7_ENST00000316607.5_Intron	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	504							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TTTCTTTCTATTTTAACAAGG	0.343																																					p.I504T		Atlas-SNP	.											.	NSUN7	70	.	0			c.T1511C						.						88.0	72.0	77.0					4																	40809188		692	1591	2283	SO:0001583	missense	79730	exon11			TTTCTATTTTAAC	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1511T>C	chr4.hg19:g.40809188T>C	ENSP00000371201:p.Ile504Thr	160.0	0.0		152.0	62.0	NM_024677	C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	hg19	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476720	0.44044	.	.	ENSG00000179299	ENST00000381782	T	0.40476	1.03	5.96	5.96	0.96718	.	0.342627	0.27509	N	0.019053	T	0.31420	0.0796	N	0.22421	0.69	0.80722	D	1	B	0.31769	0.339	B	0.24701	0.055	T	0.11446	-1.0587	10	0.56958	D	0.05	-11.3479	16.4221	0.83766	0.0:0.0:0.0:1.0	.	504	Q8NE18	NSUN7_HUMAN	T	504	ENSP00000371201:I504T	ENSP00000371201:I504T	I	+	2	0	NSUN7	40503945	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.684000	0.54671	2.283000	0.76528	0.477000	0.44152	ATT	.	.		0.343	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677	
PRKG2	5593	hgsc.bcm.edu	37	4	82125912	82125912	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr4:82125912G>A	ENST00000395578.1	-	2	406	c.290C>T	c.(289-291)tCt>tTt	p.S97F	PRKG2_ENST00000264399.1_Missense_Mutation_p.S97F|PRKG2_ENST00000418486.2_Missense_Mutation_p.S97F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	97					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTATCTGGAGAGGCCTGAAG	0.562																																					p.S97F		Atlas-SNP	.											.	PRKG2	195	.	0			c.C290T						.						109.0	118.0	115.0					4																	82125912		2203	4300	6503	SO:0001583	missense	5593	exon1			TCTGGAGAGGCCT	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.290C>T	chr4.hg19:g.82125912G>A	ENSP00000378945:p.Ser97Phe	149.0	0.0		154.0	61.0	NM_006259	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	hg19	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871535	0.33069	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.70749	-0.39;-0.39;-0.51	5.55	5.55	0.83447	.	0.117855	0.64402	D	0.000019	T	0.70107	0.3186	L	0.34521	1.04	0.80722	D	1	P;P	0.50819	0.855;0.939	B;P	0.48873	0.288;0.593	T	0.71679	-0.4520	10	0.54805	T	0.06	-17.0592	19.28	0.94050	0.0:0.0:1.0:0.0	.	97;97	E7EPE6;Q13237	.;KGP2_HUMAN	F	97	ENSP00000378945:S97F;ENSP00000264399:S97F;ENSP00000389038:S97F	ENSP00000264399:S97F	S	-	2	0	PRKG2	82344936	1.000000	0.71417	0.975000	0.42487	0.014000	0.08584	5.009000	0.63998	2.890000	0.99128	0.585000	0.79938	TCT	.	.		0.562	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
GYPE	2996	hgsc.bcm.edu	37	4	144801614	144801614	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr4:144801614G>A	ENST00000358615.4	-	2	137	c.86C>T	c.(85-87)aCt>aTt	p.T29I	GYPE_ENST00000437468.2_Missense_Mutation_p.T29I	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	29						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					AGAGGTTGAAGTGTGCATTGC	0.383																																					p.T29I		Atlas-SNP	.											.	GYPE	21	.	0			c.C86T						.						212.0	220.0	217.0					4																	144801614		2203	4300	6503	SO:0001583	missense	2996	exon2			GTTGAAGTGTGCA		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.86C>T	chr4.hg19:g.144801614G>A	ENSP00000351430:p.Thr29Ile	458.0	0.0		457.0	203.0	NM_198682	D3DNZ5	Missense_Mutation	SNP	ENST00000358615.4	hg19	CCDS47138.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289554	0.23478	.	.	ENSG00000197465	ENST00000358615;ENST00000437468;ENST00000428604	T;T	0.03242	4.0;4.0	0.858	-0.0599	0.13791	.	.	.	.	.	T	0.02649	0.0080	.	.	.	0.09310	N	1	P	0.35780	0.52	B	0.30029	0.11	T	0.42699	-0.9436	8	0.87932	D	0	.	3.2532	0.06822	0.3177:0.0:0.6823:0.0	.	29	P15421	GLPE_HUMAN	I	29	ENSP00000351430:T29I;ENSP00000400698:T29I	ENSP00000351430:T29I	T	-	2	0	GYPE	145021064	0.003000	0.15002	0.001000	0.08648	0.065000	0.16274	1.419000	0.34793	-0.031000	0.13781	0.134000	0.15878	ACT	.	.		0.383	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102	
KLHL2	11275	hgsc.bcm.edu	37	4	166184404	166184404	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr4:166184404G>T	ENST00000226725.6	+	5	696	c.437G>T	c.(436-438)tGt>tTt	p.C146F	KLHL2_ENST00000421009.2_Missense_Mutation_p.C49F|KLHL2_ENST00000514860.1_Missense_Mutation_p.C150F|KLHL2_ENST00000538127.1_Missense_Mutation_p.C58F|KLHL2_ENST00000506761.1_5'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	146					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAGACTTGTTGTGAATTTTTG	0.463																																					p.C150F		Atlas-SNP	.											.	KLHL2	42	.	0			c.G449T						.						157.0	145.0	149.0					4																	166184404		2203	4300	6503	SO:0001583	missense	11275	exon5			CTTGTTGTGAATT	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.437G>T	chr4.hg19:g.166184404G>T	ENSP00000226725:p.Cys146Phe	263.0	0.0		225.0	109.0	NM_001161521	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	hg19	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418210	0.83449	.	.	ENSG00000109466	ENST00000226725;ENST00000509704;ENST00000514860;ENST00000538127;ENST00000421009	T;T;T;T;T	0.72505	-0.24;-0.24;-0.24;-0.24;-0.66	5.42	5.42	0.78866	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.87612	0.2504	10	0.72032	D	0.01	.	19.2162	0.93780	0.0:0.0:1.0:0.0	.	150;146	B4DFH7;O95198	.;KLHL2_HUMAN	F	146;108;150;58;49	ENSP00000226725:C146F;ENSP00000421324:C108F;ENSP00000424198:C150F;ENSP00000437526:C58F;ENSP00000408974:C49F	ENSP00000226725:C146F	C	+	2	0	KLHL2	166403854	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.550000	0.86006	0.650000	0.86243	TGT	.	.		0.463	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		
SH3RF1	57630	hgsc.bcm.edu	37	4	170043263	170043263	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr4:170043263G>A	ENST00000284637.9	-	7	1675	c.1334C>T	c.(1333-1335)aCt>aTt	p.T445I	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	445	Interaction with AKT2. {ECO:0000250}.|SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ACTGGGGCGAGTCTGCGGCCG	0.547																																					p.T445I		Atlas-SNP	.											.	SH3RF1	60	.	0			c.C1334T						.						89.0	78.0	82.0					4																	170043263		2203	4300	6503	SO:0001583	missense	57630	exon7			GGGCGAGTCTGCG	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1334C>T	chr4.hg19:g.170043263G>A	ENSP00000284637:p.Thr445Ile	101.0	0.0		102.0	39.0	NM_020870	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	hg19	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309909	0.40895	.	.	ENSG00000154447	ENST00000284637	T	0.28666	1.6	5.3	4.44	0.53790	Src homology-3 domain (2);	0.481828	0.24666	N	0.036599	T	0.14013	0.0339	N	0.03608	-0.345	0.38118	D	0.937774	B	0.34103	0.437	B	0.23852	0.049	T	0.10613	-1.0622	10	0.36615	T	0.2	-2.6297	15.7767	0.78228	0.0:0.1367:0.8632:0.0	.	445	Q7Z6J0	SH3R1_HUMAN	I	445	ENSP00000284637:T445I	ENSP00000284637:T445I	T	-	2	0	SH3RF1	170279838	0.984000	0.35163	0.882000	0.34594	0.508000	0.34012	3.887000	0.56197	1.187000	0.43000	0.585000	0.79938	ACT	.	.		0.547	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870	
IL6ST	3572	hgsc.bcm.edu	37	5	55265599	55265599	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr5:55265599A>G	ENST00000381298.2	-	4	461	c.149T>C	c.(148-150)cTa>cCa	p.L50P	IL6ST_ENST00000336909.5_Missense_Mutation_p.L50P|IL6ST_ENST00000381294.3_Missense_Mutation_p.L50P|IL6ST_ENST00000502326.3_Missense_Mutation_p.L50P|IL6ST_ENST00000536319.1_Missense_Mutation_p.L50P|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381293.2_Missense_Mutation_p.L50P|IL6ST_ENST00000522633.2_Missense_Mutation_p.L50P|IL6ST_ENST00000381287.4_Missense_Mutation_p.L50P	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	50	Ig-like C2-type.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTTCCTTTAGCACACAAAC	0.318			O		hepatocellular ca																																p.L50P		Atlas-SNP	.		Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	.	IL6ST	75	.	0			c.T149C						.						83.0	83.0	83.0					5																	55265599		2203	4297	6500	SO:0001583	missense	3572	exon4			TCCTTTAGCACAC	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.149T>C	chr5.hg19:g.55265599A>G	ENSP00000370698:p.Leu50Pro	106.0	0.0		178.0	113.0	NM_175767	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	hg19	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966791	0.74131	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	D;D;D;D;D;D;D	0.88586	-1.6;-1.6;-1.6;-1.6;-1.6;-2.4;-1.6	5.86	5.86	0.93980	Fibronectin, type III (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	0.688458	0.14275	N	0.329899	D	0.93592	0.7954	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	D;D;D;D	0.97110	0.951;1.0;1.0;0.995	D	0.93043	0.6459	10	0.72032	D	0.01	.	14.8116	0.70000	1.0:0.0:0.0:0.0	.	50;50;50;50	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	P	50	ENSP00000370698:L50P;ENSP00000338799:L50P;ENSP00000370694:L50P;ENSP00000370687:L50P;ENSP00000444456:L50P;ENSP00000370693:L50P;ENSP00000435399:L50P	ENSP00000338799:L50P	L	-	2	0	IL6ST	55301356	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.374000	0.73132	2.238000	0.73509	0.477000	0.44152	CTA	.	.		0.318	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	
MAP1B	4131	hgsc.bcm.edu	37	5	71403461	71403461	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr5:71403461A>C	ENST00000296755.7	+	1	401	c.103A>C	c.(103-105)Agc>Cgc	p.S35R	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	35					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTCCTTGACAGCAAGTTCTA	0.687																																					p.S35R	Melanoma(17;367 822 11631 31730 47712)	Atlas-SNP	.											.	MAP1B	243	.	0			c.A103C						.						35.0	32.0	33.0					5																	71403461		2203	4300	6503	SO:0001583	missense	4131	exon1			CTTGACAGCAAGT	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.103A>C	chr5.hg19:g.71403461A>C	ENSP00000296755:p.Ser35Arg	78.0	0.0		130.0	28.0	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.788100	0.49997	.	.	ENSG00000131711	ENST00000512974;ENST00000296755;ENST00000511641	T;T	0.05649	3.98;3.41	5.02	5.02	0.67125	.	0.087834	0.48767	D	0.000166	T	0.04588	0.0125	N	0.22421	0.69	0.42295	D	0.992158	B	0.34103	0.437	B	0.29267	0.1	T	0.48547	-0.9026	10	0.10902	T	0.67	-11.2039	14.8997	0.70670	1.0:0.0:0.0:0.0	.	35	P46821	MAP1B_HUMAN	R	35	ENSP00000296755:S35R;ENSP00000423444:S35R	ENSP00000296755:S35R	S	+	1	0	MAP1B	71439217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.615000	0.54167	2.105000	0.64084	0.459000	0.35465	AGC	.	.		0.687	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
SNCAIP	9627	hgsc.bcm.edu	37	5	121780326	121780326	+	Silent	SNP	C	C	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr5:121780326C>A	ENST00000261368.8	+	8	1753	c.1491C>A	c.(1489-1491)gcC>gcA	p.A497A	CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.A131A|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.A55A|SNCAIP_ENST00000261367.7_Silent_p.A544A|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.A99A|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Silent_p.A437A|SNCAIP_ENST00000379533.2_Silent_p.A544A	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	497					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCCAGAGCGCCGAGCGGCAGG	0.552																																					p.A497A		Atlas-SNP	.											SNCAIP_ENST00000379533,NS,carcinoma,0,2	SNCAIP	308	.	0			c.C1491A						.						90.0	86.0	88.0					5																	121780326		2203	4300	6503	SO:0001819	synonymous_variant	9627	exon8			GAGCGCCGAGCGG	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1491C>A	chr5.hg19:g.121780326C>A		160.0	0.0		274.0	59.0	NM_005460	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	hg19	CCDS4131.1																																																																																			.	.		0.552	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1		
FBN2	2201	hgsc.bcm.edu	37	5	127614345	127614345	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr5:127614345A>C	ENST00000508053.1	-	63	8301	c.7327T>G	c.(7327-7329)Tat>Gat	p.Y2443D	FBN2_ENST00000262464.4_Missense_Mutation_p.Y2443D			P35556	FBN2_HUMAN	fibrillin 2	2443					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCAGTTGTATATCCTGGGCCA	0.423																																					p.Y2443D		Atlas-SNP	.											.	FBN2	858	.	0			c.T7327G						.						106.0	102.0	103.0					5																	127614345		2203	4300	6503	SO:0001583	missense	2201	exon57			TTGTATATCCTGG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7327T>G	chr5.hg19:g.127614345A>C	ENSP00000424571:p.Tyr2443Asp	103.0	0.0		139.0	23.0	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066581	0.76301	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91124	-2.79;-2.79	5.08	5.08	0.68730	Matrix fibril-associated (2);	0.000000	0.50627	D	0.000115	D	0.95143	0.8426	H	0.94306	3.52	0.80722	D	1	D	0.63880	0.993	P	0.52109	0.69	D	0.96261	0.9191	10	0.66056	D	0.02	.	15.3042	0.73979	1.0:0.0:0.0:0.0	.	2443	P35556	FBN2_HUMAN	D	2443	ENSP00000262464:Y2443D;ENSP00000424571:Y2443D	ENSP00000262464:Y2443D	Y	-	1	0	FBN2	127642244	1.000000	0.71417	0.845000	0.33349	0.939000	0.58152	9.029000	0.93718	2.252000	0.74401	0.528000	0.53228	TAT	.	.		0.423	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PCDHGA8	9708	hgsc.bcm.edu	37	5	140772927	140772927	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr5:140772927C>G	ENST00000398604.2	+	1	547	c.547C>G	c.(547-549)Cag>Gag	p.Q183E	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	183	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACGTGCAGACTGGAGA	0.612																																					p.Q183E		Atlas-SNP	.											.	PCDHGA8	146	.	0			c.C547G						.						52.0	58.0	56.0					5																	140772927		2147	4282	6429	SO:0001583	missense	9708	exon1			GACGTGCAGACTG	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.547C>G	chr5.hg19:g.140772927C>G	ENSP00000381605:p.Gln183Glu	198.0	0.0		332.0	86.0	NM_014004	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	hg19	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	9.532	1.110965	0.20714	.	.	ENSG00000253767	ENST00000398604	T	0.19105	2.17	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.30118	U	0.010368	T	0.25344	0.0616	L	0.58969	1.84	0.09310	N	1	B;B	0.29988	0.164;0.264	B;B	0.33254	0.117;0.16	T	0.15636	-1.0430	10	0.46703	T	0.11	.	13.7424	0.62855	0.1539:0.8461:0.0:0.0	.	183;183	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	E	183	ENSP00000381605:Q183E	ENSP00000381605:Q183E	Q	+	1	0	PCDHGA8	140753111	0.000000	0.05858	0.859000	0.33776	0.662000	0.39071	-0.042000	0.12063	2.552000	0.86080	0.655000	0.94253	CAG	.	.		0.612	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
PCDHGC5	56097	hgsc.bcm.edu	37	5	140870856	140870856	+	Silent	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr5:140870856C>T	ENST00000252087.1	+	1	2049	c.2049C>T	c.(2047-2049)caC>caT	p.H683H	PCDHGC4_ENST00000306593.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	683					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCATACACCCTCCTGAGC	0.532																																					p.H683H		Atlas-SNP	.											.	PCDHGC5	199	.	0			c.C2049T						.						205.0	186.0	193.0					5																	140870856		2203	4300	6503	SO:0001819	synonymous_variant	56097	exon1			CATACACCCTCCT	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2049C>T	chr5.hg19:g.140870856C>T		110.0	0.0		178.0	42.0	NM_018929	Q9Y5C2	Silent	SNP	ENST00000252087.1	hg19	CCDS4263.1																																																																																			.	.		0.532	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929	
FAM71B	153745	hgsc.bcm.edu	37	5	156590354	156590354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr5:156590354G>A	ENST00000302938.4	-	2	1017	c.922C>T	c.(922-924)Caa>Taa	p.Q308*		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	308	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTCACTTGACCTGGGCCT	0.517																																					p.Q308X		Atlas-SNP	.											.	FAM71B	145	.	0			c.C922T						.						118.0	114.0	115.0					5																	156590354		2203	4300	6503	SO:0001587	stop_gained	153745	exon2			TCACTTGACCTGG		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.922C>T	chr5.hg19:g.156590354G>A	ENSP00000305596:p.Gln308*	55.0	0.0		81.0	62.0	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Nonsense_Mutation	SNP	ENST00000302938.4	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439847	0.63067	.	.	ENSG00000170613	ENST00000302938	.	.	.	3.85	2.96	0.34315	.	0.365738	0.20136	N	0.098493	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-9.8624	9.482	0.38906	0.0:0.216:0.784:0.0	.	.	.	.	X	308	.	ENSP00000305596:Q308X	Q	-	1	0	FAM71B	156522932	0.133000	0.22466	0.016000	0.15963	0.002000	0.02628	3.753000	0.55180	1.164000	0.42652	-0.175000	0.13238	CAA	.	.		0.517	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
TTC1	7265	hgsc.bcm.edu	37	5	159463724	159463724	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr5:159463724A>T	ENST00000231238.5	+	4	528	c.418A>T	c.(418-420)Agt>Tgt	p.S140C	TTC1_ENST00000522793.1_Missense_Mutation_p.S140C	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	140					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AAGTTCTTATAGTCGAGCCCT	0.388																																					p.S140C		Atlas-SNP	.											.	TTC1	26	.	0			c.A418T						.						87.0	85.0	86.0					5																	159463724		2203	4300	6503	SO:0001583	missense	7265	exon4			TCTTATAGTCGAG	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.418A>T	chr5.hg19:g.159463724A>T	ENSP00000231238:p.Ser140Cys	95.0	0.0		112.0	23.0	NM_003314	B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	hg19	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771959	0.69992	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.61040	0.14;0.14	5.52	5.52	0.82312	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.252132	0.42053	D	0.000770	T	0.78400	0.4277	M	0.92970	3.365	0.09310	N	0.999996	D	0.57899	0.981	P	0.59546	0.859	T	0.75614	-0.3257	10	0.87932	D	0	-15.1795	13.2989	0.60313	1.0:0.0:0.0:0.0	.	140	Q99614	TTC1_HUMAN	C	140	ENSP00000231238:S140C;ENSP00000429225:S140C	ENSP00000231238:S140C	S	+	1	0	TTC1	159396302	0.082000	0.21442	0.205000	0.23548	0.873000	0.50193	3.153000	0.50685	2.223000	0.72356	0.482000	0.46254	AGT	.	.		0.388	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314	
PRPF4B	8899	hgsc.bcm.edu	37	6	4060749	4060749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr6:4060749C>T	ENST00000337659.6	+	15	3023	c.2923C>T	c.(2923-2925)Cag>Tag	p.Q975*	PRPF4B_ENST00000538861.1_Nonsense_Mutation_p.Q961*|PRPF4B_ENST00000494674.1_3'UTR	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	975	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAAAGTACACCAGCTAAAGGA	0.448																																					p.Q975X		Atlas-SNP	.											.	PRPF4B	140	.	0			c.C2923T						.						63.0	56.0	58.0					6																	4060749		2203	4300	6503	SO:0001587	stop_gained	8899	exon15			GTACACCAGCTAA	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2923C>T	chr6.hg19:g.4060749C>T	ENSP00000337194:p.Gln975*	374.0	2.0		647.0	453.0	NM_003913	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Nonsense_Mutation	SNP	ENST00000337659.6	hg19	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952248	0.92660	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	.	.	.	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.9491	0.92635	0.0:1.0:0.0:0.0	.	.	.	.	X	975;961	.	ENSP00000337194:Q975X	Q	+	1	0	PRPF4B	4005748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.451000	0.82905	0.655000	0.94253	CAG	.	.		0.448	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2		
ZBTB9	221504	hgsc.bcm.edu	37	6	33423514	33423514	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr6:33423514G>A	ENST00000395064.2	+	2	905	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E213Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TCaggtggaagaagaagagga	0.547																																					p.E213K		Atlas-SNP	.											ZBTB9,larynx,carcinoma,0,1	ZBTB9	23	.	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G637A						.						62.0	63.0	62.0					6																	33423514		2203	4300	6503	SO:0001583	missense	221504	exon2			GTGGAAGAAGAAG	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.637G>A	chr6.hg19:g.33423514G>A	ENSP00000378503:p.Glu213Lys	93.0	0.0		157.0	95.0	NM_152735	A2AB19	Missense_Mutation	SNP	ENST00000395064.2	hg19	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	G	6.865	0.528919	0.13127	.	.	ENSG00000213588	ENST00000395064	T	0.06933	3.24	5.22	5.22	0.72569	.	0.810441	0.09729	U	0.763381	T	0.02970	0.0088	L	0.32530	0.975	0.34650	D	0.721508	P	0.41673	0.759	B	0.37833	0.259	T	0.34875	-0.9811	10	0.07325	T	0.83	.	16.3266	0.82986	0.0:0.0:1.0:0.0	.	213	Q96C00	ZBTB9_HUMAN	K	213	ENSP00000378503:E213K	ENSP00000378503:E213K	E	+	1	0	ZBTB9	33531492	1.000000	0.71417	0.254000	0.24359	0.887000	0.51463	4.623000	0.61247	2.710000	0.92621	0.563000	0.77884	GAA	.	.		0.547	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735	
CDKN1A	1026	hgsc.bcm.edu	37	6	36652053	36652053	+	Silent	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr6:36652053C>T	ENST00000405375.1	+	2	410	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Silent_p.L93L|CDKN1A_ENST00000244741.5_Silent_p.L59L|CDKN1A_ENST00000373711.2_Silent_p.L59L	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	59					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CGAGACACCACTGGAGGGTGA	0.667																																					p.L59L		Atlas-SNP	.											.	CDKN1A	27	.	0			c.C175T						.						59.0	53.0	55.0					6																	36652053		2203	4300	6503	SO:0001819	synonymous_variant	1026	exon2			ACACCACTGGAGG	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.175C>T	chr6.hg19:g.36652053C>T		83.0	0.0		142.0	31.0	NM_001220778	Q14010|Q6FI05|Q9BUT4	Silent	SNP	ENST00000405375.1	hg19	CCDS4824.1																																																																																			.	.		0.667	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467	
GPRC6A	222545	hgsc.bcm.edu	37	6	117130749	117130749	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr6:117130749C>T	ENST00000310357.3	-	2	247	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	GPRC6A_ENST00000368549.3_Missense_Mutation_p.A76T|GPRC6A_ENST00000530250.1_Missense_Mutation_p.A76T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	76					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGTATCATGGCAAGAGTTTGA	0.368																																					p.A76T		Atlas-SNP	.											.	GPRC6A	152	.	0			c.G226A						.						98.0	93.0	94.0					6																	117130749		2203	4300	6503	SO:0001583	missense	222545	exon2			TCATGGCAAGAGT	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.226G>A	chr6.hg19:g.117130749C>T	ENSP00000309493:p.Ala76Thr	84.0	0.0		36.0	24.0	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	hg19	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954544	0.92726	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.91577	-2.87;-2.87;-2.87	4.66	4.66	0.58398	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000002	D	0.91623	0.7353	L	0.49778	1.585	0.34476	D	0.703367	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.79784	0.992;0.993;0.978	D	0.89160	0.3529	10	0.22706	T	0.39	.	17.7521	0.88438	0.0:1.0:0.0:0.0	.	76;76;76	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	T	76	ENSP00000309493:A76T;ENSP00000357537:A76T;ENSP00000433465:A76T	ENSP00000309493:A76T	A	-	1	0	GPRC6A	117237442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.860000	0.75473	2.420000	0.82092	0.650000	0.86243	GCC	.	.		0.368	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
MCM9	254394	hgsc.bcm.edu	37	6	119150342	119150342	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr6:119150342T>C	ENST00000316316.6	-	9	1683	c.1397A>G	c.(1396-1398)cAg>cGg	p.Q466R	MCM9_ENST00000505485.1_5'UTR	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	466	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CACGGACTCCTGGGGGTCGTA	0.532																																					p.Q466R		Atlas-SNP	.											.	MCM9	73	.	0			c.A1397G						.																																			SO:0001583	missense	254394	exon8			GACTCCTGGGGGT	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.1397A>G	chr6.hg19:g.119150342T>C	ENSP00000314505:p.Gln466Arg	146.0	0.0		69.0	44.0	NM_017696	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	hg19	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	T	7.144	0.582449	0.13749	.	.	ENSG00000111877	ENST00000316316;ENST00000243218	T	0.06218	3.33	5.01	-0.0864	0.13681	ATPase, AAA+ type, core (1);	70.399800	0.01095	N	0.005266	T	0.00695	0.0023	N	0.02334	-0.595	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42275	-0.9461	10	0.09084	T	0.74	.	7.1449	0.25577	0.0:0.2896:0.1149:0.5955	.	466	Q9NXL9	MCM9_HUMAN	R	466;85	ENSP00000314505:Q466R	ENSP00000243218:Q85R	Q	-	2	0	MCM9	119257034	0.910000	0.30920	0.016000	0.15963	0.979000	0.70002	1.441000	0.35035	0.073000	0.16731	0.482000	0.46254	CAG	.	.		0.532	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255	
UTRN	7402	hgsc.bcm.edu	37	6	144863929	144863929	+	Splice_Site	SNP	A	A	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr6:144863929A>G	ENST00000367545.3	+	45	6519		c.e45-1			NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGATGCGGTAGATTTGCAGA	0.413																																					.		Atlas-SNP	.											.	UTRN	327	.	0			c.6520-2A>G						.						89.0	86.0	87.0					6																	144863929		2203	4300	6503	SO:0001630	splice_region_variant	7402	exon45			TGCGGTAGATTTG	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.6520-1A>G	chr6.hg19:g.144863929A>G		105.0	0.0		40.0	24.0	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	hg19	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157780	0.38119	.	.	ENSG00000152818	ENST00000367545	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6945	0.45890	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTRN	144905622	0.998000	0.40836	0.962000	0.40283	0.468000	0.32798	4.743000	0.62110	1.911000	0.55334	0.459000	0.35465	.	.	.		0.413	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Intron
TNS3	64759	hgsc.bcm.edu	37	7	47440020	47440020	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr7:47440020C>T	ENST00000398879.1	-	15	1255	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	TNS3_ENST00000311160.9_Missense_Mutation_p.V297I|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	297	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCAGAGAAGACTAATTCAACC	0.448																																					p.V297I		Atlas-SNP	.											.	TNS3	140	.	0			c.G889A						.						76.0	75.0	75.0					7																	47440020		1987	4160	6147	SO:0001583	missense	64759	exon15			AGAAGACTAATTC	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.889G>A	chr7.hg19:g.47440020C>T	ENSP00000381854:p.Val297Ile	263.0	0.0		232.0	83.0	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	hg19	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009347	0.54361	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.29	4.41	0.53225	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.347490	0.29034	N	0.013345	T	0.79281	0.4419	L	0.35341	1.055	0.80722	D	1	B	0.15719	0.014	B	0.17722	0.019	T	0.71027	-0.4711	10	0.16896	T	0.51	-30.4402	11.4605	0.50208	0.0:0.9119:0.0:0.0881	.	297	Q68CZ2	TENS3_HUMAN	I	297;407;297;400;386	ENSP00000312143:V297I;ENSP00000381854:V297I;ENSP00000414358:V400I;ENSP00000396914:V386I	ENSP00000312143:V297I	V	-	1	0	TNS3	47406545	0.681000	0.27614	0.539000	0.28077	0.993000	0.82548	1.320000	0.33666	1.209000	0.43321	0.655000	0.94253	GTC	.	.		0.448	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
CACNA2D1	781	hgsc.bcm.edu	37	7	81593423	81593423	+	Splice_Site	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr7:81593423G>A	ENST00000356253.5	-	34	3020	c.2765C>T	c.(2764-2766)cCa>cTa	p.P922L	CACNA2D1_ENST00000535308.1_Splice_Site_p.P122L|CACNA2D1_ENST00000356860.3_Splice_Site_p.P910L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	922					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGCTACTGATGGCTATAAAAT	0.368																																					p.P910L		Atlas-SNP	.											.	CACNA2D1	191	.	0			c.C2729T						.						45.0	48.0	47.0					7																	81593423		2199	4292	6491	SO:0001630	splice_region_variant	781	exon34			ACTGATGGCTATA	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2764-1C>T	chr7.hg19:g.81593423G>A		250.0	0.0		234.0	98.0	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	hg19		.	.	.	.	.	.	.	.	.	.	G	26.8	4.772177	0.90108	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.76060	-0.99;-0.99;-0.99	5.36	5.36	0.76844	.	0.104471	0.64402	D	0.000002	D	0.87916	0.6298	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.966;1.0	P;D	0.87578	0.688;0.998	D	0.89123	0.3504	10	0.87932	D	0	-5.265	19.4987	0.95085	0.0:0.0:1.0:0.0	.	122;910	B7Z658;P54289-2	.;.	L	910;929;922;122	ENSP00000349320:P910L;ENSP00000348589:P922L;ENSP00000443124:P122L	ENSP00000284088:P929L	P	-	2	0	CACNA2D1	81431359	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.375000	0.97178	2.677000	0.91161	0.644000	0.83932	CCA	.	.		0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation
KIAA1324L	222223	hgsc.bcm.edu	37	7	86526844	86526844	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr7:86526844C>T	ENST00000450689.2	-	19	2848	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G817E|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G648E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G721E	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	888						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTTGCAGGCTCCCTCAATCTC	0.488																																					p.G888E		Atlas-SNP	.											.	KIAA1324L	225	.	0			c.G2663A						.						100.0	96.0	97.0					7																	86526844		2203	4300	6503	SO:0001583	missense	222223	exon19			CAGGCTCCCTCAA	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2663G>A	chr7.hg19:g.86526844C>T	ENSP00000413445:p.Gly888Glu	133.0	0.0		92.0	38.0	NM_001142749	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	hg19	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693642	0.88735	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.23950	2.18;1.95;1.88;1.94	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.982;0.993;0.993	T	0.56245	-0.8011	10	0.51188	T	0.08	.	18.5874	0.91196	0.0:1.0:0.0:0.0	.	888;648;721	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	E	888;648;817;721	ENSP00000413445:G888E;ENSP00000297222:G648E;ENSP00000397377:G817E;ENSP00000402390:G721E	ENSP00000297222:G648E	G	-	2	0	KIAA1324L	86364780	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	6.089000	0.71384	2.642000	0.89623	0.650000	0.86243	GGA	.	.		0.488	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
TAS2R16	50833	hgsc.bcm.edu	37	7	122634906	122634906	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr7:122634906C>G	ENST00000249284.2	-	1	848	c.783G>C	c.(781-783)tgG>tgC	p.W261C		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	261					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAAAAGCTTCCCAGACCCATA	0.403																																					p.W261C		Atlas-SNP	.											.	TAS2R16	57	.	0			c.G783C						.						128.0	126.0	126.0					7																	122634906		2203	4300	6503	SO:0001583	missense	50833	exon1			AGCTTCCCAGACC	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.783G>C	chr7.hg19:g.122634906C>G	ENSP00000249284:p.Trp261Cys	137.0	0.0		148.0	49.0	NM_016945	A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	hg19	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	7.598	0.672129	0.14776	.	.	ENSG00000128519	ENST00000249284	T	0.00695	5.83	4.77	2.89	0.33648	.	1.178150	0.06102	N	0.665669	T	0.01421	0.0046	L	0.53729	1.69	0.09310	N	0.999994	P	0.35982	0.531	B	0.37833	0.259	T	0.53885	-0.8375	10	0.25106	T	0.35	.	11.2561	0.49054	0.0:0.6251:0.3749:0.0	.	261	Q9NYV7	T2R16_HUMAN	C	261	ENSP00000249284:W261C	ENSP00000249284:W261C	W	-	3	0	TAS2R16	122422142	0.000000	0.05858	0.024000	0.17045	0.045000	0.14185	-0.320000	0.08028	0.672000	0.31204	0.655000	0.94253	TGG	.	.		0.403	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945	
GPR37	2861	hgsc.bcm.edu	37	7	124404046	124404046	+	Silent	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr7:124404046G>A	ENST00000303921.2	-	1	1635	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	329				L -> V (in Ref. 3; AAC51281). {ECO:0000305}.	dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGTCCTCCAGCAGCCACTTC	0.517																																					p.L329L		Atlas-SNP	.											.	GPR37	89	.	0			c.C985T						.						139.0	154.0	149.0					7																	124404046		2203	4300	6503	SO:0001819	synonymous_variant	2861	exon1			CCTCCAGCAGCCA		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.985C>T	chr7.hg19:g.124404046G>A		42.0	0.0		28.0	13.0	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	hg19	CCDS5792.1																																																																																			.	.		0.517	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
SSPO	23145	hgsc.bcm.edu	37	7	149524046	149524046	+	RNA	SNP	A	A	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr7:149524046A>G	ENST00000378016.2	+	0	14768							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTTGACTGTCAGGGTGAGATG	0.597																																					p.Q4922R		Atlas-SNP	.											.	.	.	.	0			c.A14765G						.						158.0	184.0	175.0					7																	149524046		2184	4277	6461			23145	exon104			ACTGTCAGGGTGA	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149524046A>G		55.0	0.0		35.0	15.0	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	hg19																																																																																				.	.		0.597	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
ADAM2	2515	hgsc.bcm.edu	37	8	39678669	39678669	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr8:39678669T>A	ENST00000265708.4	-	6	468	c.365A>T	c.(364-366)aAt>aTt	p.N122I	ADAM2_ENST00000379853.2_Missense_Mutation_p.N122I|ADAM2_ENST00000347580.4_Missense_Mutation_p.N122I|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.N122I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	122					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATAACTAACATTTTCAAACTG	0.308																																					p.N122I		Atlas-SNP	.											.	ADAM2	124	.	0			c.A365T						.						38.0	38.0	38.0					8																	39678669		2203	4295	6498	SO:0001583	missense	2515	exon6			CTAACATTTTCAA	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.365A>T	chr8.hg19:g.39678669T>A	ENSP00000265708:p.Asn122Ile	257.0	0.0		415.0	86.0	NM_001464	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	hg19	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544003	0.65198	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.33	4.13	0.48395	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.35158	0.0922	M	0.92880	3.355	0.36977	D	0.894127	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.991;0.998;0.999	T	0.50550	-0.8815	8	.	.	.	.	10.417	0.44327	0.0:0.0:0.1645:0.8355	.	122;122;122;122	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	I	122	ENSP00000343854:N122I;ENSP00000369182:N122I;ENSP00000265708:N122I;ENSP00000429352:N122I	.	N	-	2	0	ADAM2	39797826	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	2.432000	0.44784	0.820000	0.34516	0.533000	0.62120	AAT	.	.		0.308	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
CNGB3	54714	hgsc.bcm.edu	37	8	87755757	87755757	+	Silent	SNP	T	T	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr8:87755757T>G	ENST00000320005.5	-	1	146	c.99A>C	c.(97-99)ccA>ccC	p.P33P	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	33					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ACTGATTACTTGGGTGAGAGC	0.398																																					p.P33P		Atlas-SNP	.											.	CNGB3	176	.	0			c.A99C						.						329.0	275.0	293.0					8																	87755757		2203	4300	6503	SO:0001819	synonymous_variant	54714	exon1			ATTACTTGGGTGA	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.99A>C	chr8.hg19:g.87755757T>G		153.0	0.0		288.0	188.0	NM_019098	C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	hg19	CCDS6244.1																																																																																			.	.		0.398	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
NDUFAF6	137682	hgsc.bcm.edu	37	8	96037272	96037272	+	Silent	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr8:96037272G>T	ENST00000396124.4	+	1	59	c.36G>T	c.(34-36)ccG>ccT	p.P12P	NDUFAF6_ENST00000542894.1_Intron|NDUFAF6_ENST00000396111.2_Intron|NDUFAF6_ENST00000396113.1_Intron|NDUFAF6_ENST00000286687.4_5'Flank	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	12					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										TCTGGGGGCCGTTGCGGCTTG	0.786																																					p.P12P		Atlas-SNP	.											.	.	.	.	0			c.G36T						.						3.0	3.0	3.0					8																	96037272		1194	2802	3996	SO:0001819	synonymous_variant	137682	exon1			GGGGCCGTTGCGG	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.36G>T	chr8.hg19:g.96037272G>T		3.0	0.0		11.0	7.0	NM_152416	A8MT28|A8MWF0|B4DQ45|Q8N6U6	Silent	SNP	ENST00000396124.4	hg19	CCDS6266.2																																																																																			.	.		0.786	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416	
DOCK8	81704	hgsc.bcm.edu	37	9	434898	434898	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr9:434898G>A	ENST00000453981.1	+	39	5114	c.5002G>A	c.(5002-5004)Gcc>Acc	p.A1668T	DOCK8_ENST00000469391.1_Missense_Mutation_p.A1568T|DOCK8_ENST00000432829.2_Missense_Mutation_p.A1600T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A1135T			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1668	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTGGTGCACGCCGCTGCGTT	0.592																																					p.A1668T		Atlas-SNP	.											.	DOCK8	401	.	0			c.G5002A						.						98.0	86.0	90.0					9																	434898		2203	4300	6503	SO:0001583	missense	81704	exon39			GTGCACGCCGCTG	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5002G>A	chr9.hg19:g.434898G>A	ENSP00000408464:p.Ala1668Thr	68.0	0.0		60.0	27.0	NM_203447	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	hg19	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844259	0.32606	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.73575	2.52;-0.76;-0.76;-0.76	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.66939	2.045	0.80722	D	1	B;B;B	0.30824	0.104;0.296;0.104	B;B;B	0.31812	0.046;0.136;0.086	T	0.72520	-0.4268	10	0.33940	T	0.23	.	18.5837	0.91181	0.0:0.0:1.0:0.0	.	1568;1135;1668	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	T	1668;1636;1600;1568;1135	ENSP00000408464:A1668T;ENSP00000394888:A1600T;ENSP00000419438:A1568T;ENSP00000371766:A1135T	ENSP00000287364:A1636T	A	+	1	0	DOCK8	424898	1.000000	0.71417	0.971000	0.41717	0.087000	0.18053	4.493000	0.60341	2.615000	0.88500	0.609000	0.83330	GCC	.	.		0.592	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
NOL6	65083	hgsc.bcm.edu	37	9	33467217	33467217	+	Missense_Mutation	SNP	C	C	G	rs374756474		TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr9:33467217C>G	ENST00000379471.2	-	14	1856	c.1769G>C	c.(1768-1770)cGg>cCg	p.R590P	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R538P			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	590					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CTGGAAACGCCGAAGCTCCGA	0.617											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R590P		Atlas-SNP	.											.	NOL6	85	.	0			c.G1769C						.						50.0	57.0	54.0					9																	33467217		2203	4300	6503	SO:0001583	missense	65083	exon14			AAACGCCGAAGCT	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1769G>C	chr9.hg19:g.33467217C>G	ENSP00000368784:p.Arg590Pro	91.0	0.0	840	104.0	53.0	NM_022917	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	hg19		.	.	.	.	.	.	.	.	.	.	C	34	5.378085	0.95945	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.89334	0.3649	10	0.87932	D	0	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	538;587;590;590;590	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	P	590;590;590;146;590;538	ENSP00000313978:R590P;ENSP00000297990:R590P;ENSP00000368784:R590P;ENSP00000395915:R538P	ENSP00000297990:R590P	R	-	2	0	NOL6	33457217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.428000	0.80296	2.755000	0.94549	0.655000	0.94253	CGG	.	.		0.617	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	
VPS13A	23230	hgsc.bcm.edu	37	9	79898289	79898289	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr9:79898289A>T	ENST00000360280.3	+	30	3397	c.3137A>T	c.(3136-3138)aAt>aTt	p.N1046I	VPS13A_ENST00000376634.4_Missense_Mutation_p.N1046I|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1046I|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Intron	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1046					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTATCCACAAATGAAGATATC	0.259																																					p.N1046I		Atlas-SNP	.											.	VPS13A	735	.	0			c.A3137T						.						24.0	26.0	25.0					9																	79898289		2174	4265	6439	SO:0001583	missense	23230	exon30			CCACAAATGAAGA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3137A>T	chr9.hg19:g.79898289A>T	ENSP00000353422:p.Asn1046Ile	375.0	1.0		348.0	137.0	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	5.513	0.279587	0.10458	.	.	ENSG00000197969	ENST00000376634;ENST00000360280;ENST00000357409	T;T;T	0.17691	2.26;2.26;2.26	5.74	1.9	0.25705	.	1.056110	0.07284	N	0.871226	T	0.08758	0.0217	N	0.08118	0	0.80722	D	1	B;B;B	0.29432	0.158;0.244;0.244	B;B;B	0.23716	0.021;0.048;0.048	T	0.16512	-1.0400	10	0.36615	T	0.2	.	7.588	0.28004	0.6598:0.2249:0.1153:0.0	.	1046;1046;1046	Q96RL7;Q96RL7-2;Q96RL7-4	VP13A_HUMAN;.;.	I	1046	ENSP00000365821:N1046I;ENSP00000353422:N1046I;ENSP00000349985:N1046I	ENSP00000349985:N1046I	N	+	2	0	VPS13A	79088109	0.998000	0.40836	0.790000	0.31976	0.280000	0.26924	0.652000	0.24888	0.982000	0.38575	-0.323000	0.08544	AAT	.	.		0.259	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
USP20	10868	hgsc.bcm.edu	37	9	132638408	132638408	+	Splice_Site	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr9:132638408G>T	ENST00000315480.4	+	22	2458		c.e22-1		USP20_ENST00000358355.1_Splice_Site|USP20_ENST00000372429.3_Splice_Site			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20						endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCTGGGCACAGATTCGGGGGT	0.647																																					.		Atlas-SNP	.											.	USP20	186	.	0			c.2301-1G>T						.						22.0	25.0	24.0					9																	132638408		2019	4188	6207	SO:0001630	splice_region_variant	10868	exon22			GGCACAGATTCGG	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2301-1G>T	chr9.hg19:g.132638408G>T		206.0	0.0		172.0	67.0	NM_001110303	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Splice_Site	SNP	ENST00000315480.4	hg19	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068255	0.36470	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0289	0.92946	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP20	131678229	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	9.467000	0.97671	2.746000	0.94184	0.561000	0.74099	.	.	.		0.647	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		Intron
GTF3C4	9329	hgsc.bcm.edu	37	9	135553599	135553599	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr9:135553599A>G	ENST00000372146.4	+	2	1157	c.593A>G	c.(592-594)aAc>aGc	p.N198S	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	198					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCAAATCTCAACAGACTGCAG	0.527																																					p.N198S	Pancreas(142;417 1875 11086 31973 47667)	Atlas-SNP	.											.	GTF3C4	53	.	0			c.A593G						.						70.0	68.0	69.0					9																	135553599		2203	4300	6503	SO:0001583	missense	9329	exon2			ATCTCAACAGACT	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.593A>G	chr9.hg19:g.135553599A>G	ENSP00000361219:p.Asn198Ser	153.0	0.0		129.0	46.0	NM_012204	Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	hg19	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449064	0.26074	.	.	ENSG00000125484	ENST00000372146	T	0.40476	1.03	5.72	4.59	0.56863	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.197602	0.52532	N	0.000077	T	0.22666	0.0547	N	0.19112	0.55	0.33217	D	0.554233	B	0.09022	0.002	B	0.10450	0.005	T	0.27806	-1.0063	10	0.02654	T	1	-33.2064	9.1267	0.36818	0.9075:0.0:0.0925:0.0	.	198	Q9UKN8	TF3C4_HUMAN	S	198	ENSP00000361219:N198S	ENSP00000361219:N198S	N	+	2	0	GTF3C4	134543420	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.727000	0.47311	0.997000	0.38969	0.459000	0.35465	AAC	.	.		0.527	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1		
ITIH5	80760	hgsc.bcm.edu	37	10	7659077	7659077	+	Splice_Site	SNP	T	T	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr10:7659077T>A	ENST00000256861.6	-	6	899	c.821A>T	c.(820-822)cAg>cTg	p.Q274L	ITIH5_ENST00000298441.6_Splice_Site_p.Q60L|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Splice_Site_p.Q56L|ITIH5_ENST00000397145.2_Splice_Site_p.Q274L|ITIH5_ENST00000397146.2_Splice_Site_p.Q274L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	274					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCCTATTACCTGGATGTCCCC	0.423																																					p.Q274L		Atlas-SNP	.											.	ITIH5	343	.	0			c.A821T						.						180.0	157.0	165.0					10																	7659077		2203	4300	6503	SO:0001630	splice_region_variant	80760	exon6			ATTACCTGGATGT			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.822+1A>T	chr10.hg19:g.7659077T>A		86.0	0.0		103.0	6.0	NM_001001851	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	hg19		.	.	.	.	.	.	.	.	.	.	T	28.5	4.925231	0.92319	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	6.08	6.08	0.98989	.	0.051461	0.85682	D	0.000000	D	0.86518	0.5952	.	.	.	0.58432	D	0.999999	P;D;D	0.65815	0.93;0.995;0.994	P;P;P	0.62014	0.762;0.848;0.897	D	0.86451	0.1773	9	0.45353	T	0.12	-24.9552	16.3246	0.82970	0.0:0.0:0.0:1.0	.	274;274;60	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	L	274;274;60;56;274	ENSP00000256861:Q274L;ENSP00000380333:Q274L;ENSP00000298441:Q60L;ENSP00000387969:Q56L;ENSP00000380332:Q274L	ENSP00000256861:Q274L	Q	-	2	0	ITIH5	7699083	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.278000	0.78587	2.333000	0.79357	0.482000	0.46254	CAG	.	.		0.423	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	Missense_Mutation
CACNB2	783	hgsc.bcm.edu	37	10	18828423	18828423	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr10:18828423C>T	ENST00000324631.7	+	14	1813	c.1753C>T	c.(1753-1755)Cac>Tac	p.H585Y	CACNB2_ENST00000377329.4_Missense_Mutation_p.H531Y|CACNB2_ENST00000377331.2_Missense_Mutation_p.H533Y|CACNB2_ENST00000352115.6_Missense_Mutation_p.H561Y|RP11-499P20.2_ENST00000425669.1_RNA|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.H537Y|CACNB2_ENST00000377328.1_Missense_Mutation_p.H335Y|CACNB2_ENST00000377319.3_Missense_Mutation_p.H492Y|CACNB2_ENST00000282343.8_Missense_Mutation_p.H557Y|CACNB2_ENST00000396576.2_Missense_Mutation_p.H530Y	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	585					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTATGCCTCACACCGTGACCA	0.577																																					p.H585Y		Atlas-SNP	.											.	CACNB2	220	.	0			c.C1753T						.						114.0	82.0	93.0					10																	18828423		2203	4300	6503	SO:0001583	missense	783	exon14			GCCTCACACCGTG	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1753C>T	chr10.hg19:g.18828423C>T	ENSP00000320025:p.His585Tyr	206.0	0.0		202.0	78.0	NM_201596	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	hg19	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999929	0.74818	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83755	-1.69;1.99;-1.76;-1.68;1.99;-1.68;-1.7;-1.68;-1.69	5.91	5.91	0.95273	.	0.127596	0.64402	D	0.000001	D	0.85239	0.5651	N	0.14661	0.345	0.80722	D	1	P;D;D;D;D;D;D;P;P;D;P;D;D	0.71674	0.908;0.997;0.996;0.976;0.995;0.986;0.995;0.952;0.947;0.998;0.952;0.989;0.997	P;D;D;D;D;D;D;P;P;D;P;P;D	0.79784	0.684;0.985;0.918;0.943;0.985;0.974;0.985;0.453;0.622;0.993;0.709;0.868;0.985	D	0.86666	0.1907	10	0.54805	T	0.06	-20.9662	20.2963	0.98556	0.0:1.0:0.0:0.0	.	499;557;335;537;507;531;541;492;533;557;547;561;585	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Y	585;561;335;557;533;530;492;531;537	ENSP00000320025:H585Y;ENSP00000344474:H561Y;ENSP00000366545:H335Y;ENSP00000282343:H557Y;ENSP00000366548:H533Y;ENSP00000379821:H530Y;ENSP00000366536:H492Y;ENSP00000366546:H531Y;ENSP00000366532:H537Y	ENSP00000282343:H557Y	H	+	1	0	CACNB2	18868429	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.951000	0.63610	2.813000	0.96785	0.655000	0.94253	CAC	.	.		0.577	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724	
ZNF239	8187	hgsc.bcm.edu	37	10	44052197	44052197	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr10:44052197G>A	ENST00000306006.6	-	2	1983	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	ZNF239_ENST00000426961.1_Missense_Mutation_p.S444F|ZNF239_ENST00000374446.2_Missense_Mutation_p.S444F|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000535642.1_Missense_Mutation_p.S444F	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTGAAGGTTGGAGCTCTGGCT	0.488																																					p.S444F		Atlas-SNP	.											.	ZNF239	45	.	0			c.C1331T						.						64.0	69.0	67.0					10																	44052197		2201	4300	6501	SO:0001583	missense	8187	exon2			AGGTTGGAGCTCT	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.1331C>T	chr10.hg19:g.44052197G>A	ENSP00000307774:p.Ser444Phe	91.0	0.0		93.0	40.0	NM_001099283	Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	hg19	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886048	0.51908	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	3.25	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64305	0.2586	M	0.89478	3.035	0.30614	N	0.759207	D	0.71674	0.998	D	0.79784	0.993	T	0.66909	-0.5804	9	0.87932	D	0	-14.5011	12.8102	0.57635	0.0:0.0:1.0:0.0	.	444	Q16600	ZN239_HUMAN	F	444	ENSP00000307774:S444F;ENSP00000363569:S444F;ENSP00000398202:S444F;ENSP00000443907:S444F	ENSP00000307774:S444F	S	-	2	0	ZNF239	43372203	0.190000	0.23276	1.000000	0.80357	0.990000	0.78478	2.261000	0.43276	2.129000	0.65627	0.650000	0.86243	TCC	.	.		0.488	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1		
TMEM72	643236	hgsc.bcm.edu	37	10	45406975	45406975	+	5'UTR	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr10:45406975G>A	ENST00000544540.1	+	0	212				TMEM72-AS1_ENST00000450287.2_RNA|RP11-285G1.2_ENST00000436877.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72							integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						AGCTCCAGGTGTTCTGGACTG	0.607																																					p.V5V		Atlas-SNP	.											.	TMEM72	25	.	0			c.G15A						.						18.0	18.0	18.0					10																	45406975		1502	3420	4922	SO:0001623	5_prime_UTR_variant	643236	exon1			CCAGGTGTTCTGG	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.-273G>A	chr10.hg19:g.45406975G>A		39.0	0.0		32.0	12.0	NM_001123376	A1L181|Q5T740	Silent	SNP	ENST00000544540.1	hg19																																																																																				.	.		0.607	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376	
SORCS1	114815	hgsc.bcm.edu	37	10	108924108	108924108	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr10:108924108C>A	ENST00000263054.6	-	1	184	c.177G>T	c.(175-177)caG>caT	p.Q59H	SORCS1_ENST00000344440.6_Missense_Mutation_p.Q59H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	59					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGGCCGCCCCTGGTGGGAAA	0.756																																					p.Q59H		Atlas-SNP	.											.	SORCS1	534	.	0			c.G177T						.						2.0	3.0	3.0					10																	108924108		1734	3594	5328	SO:0001583	missense	114815	exon1			CCGCCCCTGGTGG	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.177G>T	chr10.hg19:g.108924108C>A	ENSP00000263054:p.Gln59His	72.0	0.0		67.0	7.0	NM_001206572	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	hg19	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	2.949	-0.217203	0.06101	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.14391	2.51;2.52	4.06	2.17	0.27698	.	0.570812	0.13469	N	0.385558	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.41698	-0.9494	9	.	.	.	-0.2343	2.782	0.05363	0.1861:0.5292:0.1809:0.1037	.	59;59;59;59;59	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	H	59	ENSP00000263054:Q59H;ENSP00000345964:Q59H	.	Q	-	3	2	SORCS1	108914098	0.548000	0.26473	0.002000	0.10522	0.183000	0.23260	1.234000	0.32660	0.348000	0.23949	0.467000	0.42956	CAG	.	.		0.756	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SEC23IP	11196	hgsc.bcm.edu	37	10	121678002	121678002	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr10:121678002G>T	ENST00000369075.3	+	10	1923	c.1851G>T	c.(1849-1851)caG>caT	p.Q617H	SEC23IP_ENST00000543134.1_Missense_Mutation_p.Q406H	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	617					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTGTGAAGCAGCTACATTTTC	0.373																																					p.Q617H		Atlas-SNP	.											.	SEC23IP	100	.	0			c.G1851T						.						111.0	105.0	107.0					10																	121678002		2203	4300	6503	SO:0001583	missense	11196	exon10			GAAGCAGCTACAT	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1851G>T	chr10.hg19:g.121678002G>T	ENSP00000358071:p.Gln617His	111.0	0.0		87.0	6.0	NM_007190	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	hg19	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582412	0.28180	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.42900	0.96;0.96	5.72	-1.79	0.07932	.	0.379061	0.33875	N	0.004467	T	0.14614	0.0353	N	0.04880	-0.145	0.20873	N	0.999839	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.06303	-1.0834	10	0.41790	T	0.15	-7.7821	0.8952	0.01262	0.2986:0.0957:0.2475:0.3582	.	406;617	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	H	617;406	ENSP00000358071:Q617H;ENSP00000438773:Q406H	ENSP00000358071:Q617H	Q	+	3	2	SEC23IP	121667992	0.034000	0.19679	0.383000	0.26132	0.989000	0.77384	0.113000	0.15499	-0.069000	0.12931	-0.137000	0.14449	CAG	.	.		0.373	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
MMP26	56547	hgsc.bcm.edu	37	11	5013312	5013312	+	Silent	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr11:5013312C>T	ENST00000380390.1	+	6	930	c.714C>T	c.(712-714)ttC>ttT	p.F238F	MMP26_ENST00000300762.1_Silent_p.F238F			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	238					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CTAGAACCTTCCAGCTCAGTG	0.478																																					p.F238F		Atlas-SNP	.											.	MMP26	49	.	0			c.C714T						.						86.0	77.0	80.0					11																	5013312		2201	4298	6499	SO:0001819	synonymous_variant	56547	exon5			AACCTTCCAGCTC	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.714C>T	chr11.hg19:g.5013312C>T		164.0	0.0		183.0	72.0	NM_021801	Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	hg19	CCDS7752.1																																																																																			.	.		0.478	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801	
RBMXL2	27288	hgsc.bcm.edu	37	11	7111063	7111063	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr11:7111063T>C	ENST00000306904.5	+	1	899	c.712T>C	c.(712-714)Tac>Cac	p.Y238H		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	238	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCGGAGAGTACACCCACCG	0.672																																					p.Y238H		Atlas-SNP	.											.	RBMXL2	47	.	0			c.T712C						.						20.0	22.0	21.0					11																	7111063		2193	4277	6470	SO:0001583	missense	27288	exon1			GGAGAGTACACCC	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.712T>C	chr11.hg19:g.7111063T>C	ENSP00000304139:p.Tyr238His	85.0	0.0		59.0	16.0	NM_014469	Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	hg19	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.354446	0.41700	.	.	ENSG00000170748	ENST00000306904	T	0.79749	-1.3	3.08	3.08	0.35506	.	0.075363	0.56097	U	0.000035	D	0.85826	0.5787	M	0.73962	2.25	0.43133	D	0.994873	D	0.76494	0.999	P	0.60789	0.879	D	0.87050	0.2146	10	0.87932	D	0	.	9.8477	0.41037	0.0:0.0:0.0:1.0	.	238	O75526	HNRGT_HUMAN	H	238	ENSP00000304139:Y238H	ENSP00000304139:Y238H	Y	+	1	0	RBMXL2	7067639	1.000000	0.71417	0.967000	0.41034	0.379000	0.30106	6.042000	0.70996	1.637000	0.50538	0.383000	0.25322	TAC	.	.		0.672	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469	
KCNA4	3739	hgsc.bcm.edu	37	11	30034089	30034089	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr11:30034089G>C	ENST00000328224.6	-	2	1370	c.137C>G	c.(136-138)gCg>gGg	p.A46G	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	46					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	AGCTGTGGCCGCTGCAACAGC	0.662																																					p.A46G		Atlas-SNP	.											.	KCNA4	158	.	0			c.C137G						.						40.0	41.0	41.0					11																	30034089		1806	3994	5800	SO:0001583	missense	3739	exon2			GTGGCCGCTGCAA	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.137C>G	chr11.hg19:g.30034089G>C	ENSP00000328511:p.Ala46Gly	35.0	0.0		41.0	17.0	NM_002233		Missense_Mutation	SNP	ENST00000328224.6	hg19	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127630	0.20959	.	.	ENSG00000182255	ENST00000328224	D	0.96967	-4.19	4.84	4.84	0.62591	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	4.111420	0.00616	N	0.000436	D	0.92714	0.7684	N	0.12182	0.205	0.39953	D	0.974562	B	0.06786	0.001	B	0.09377	0.004	T	0.67715	-0.5599	10	0.28530	T	0.3	.	13.6829	0.62496	0.0:0.1546:0.8454:0.0	.	46	P22459	KCNA4_HUMAN	G	46	ENSP00000328511:A46G	ENSP00000328511:A46G	A	-	2	0	KCNA4	29990665	1.000000	0.71417	0.090000	0.20809	0.132000	0.20833	4.380000	0.59581	2.239000	0.73571	0.561000	0.74099	GCG	.	.		0.662	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
PACSIN3	29763	hgsc.bcm.edu	37	11	47201829	47201829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr11:47201829C>A	ENST00000539589.1	-	6	853	c.511G>T	c.(511-513)Gag>Tag	p.E171*	PACSIN3_ENST00000298838.6_Nonsense_Mutation_p.E171*	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	171	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GCGTGGCTCTCCCTCGTCTGG	0.622											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E171X		Atlas-SNP	.											.	PACSIN3	28	.	0			c.G511T						.						135.0	108.0	117.0					11																	47201829		2201	4298	6499	SO:0001587	stop_gained	29763	exon6			GGCTCTCCCTCGT	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.511G>T	chr11.hg19:g.47201829C>A	ENSP00000440945:p.Glu171*	45.0	0.0	945	41.0	18.0	NM_016223	A6NH84|Q9H331|Q9NWV9	Nonsense_Mutation	SNP	ENST00000539589.1	hg19	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952545	0.53293	.	.	ENSG00000165912	ENST00000298838;ENST00000415232;ENST00000539589;ENST00000528462	.	.	.	5.62	4.71	0.59529	.	0.190075	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-21.5089	14.561	0.68136	0.0:0.9296:0.0:0.0704	.	.	.	.	X	171	.	ENSP00000298838:E171X	E	-	1	0	PACSIN3	47158405	1.000000	0.71417	0.999000	0.59377	0.005000	0.04900	6.086000	0.71352	1.397000	0.46682	-0.258000	0.10820	GAG	.	.		0.622	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223	
OR5D13	390142	hgsc.bcm.edu	37	11	55541283	55541283	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr11:55541283C>A	ENST00000361760.1	+	1	370	c.370C>A	c.(370-372)Cgt>Agt	p.R124S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	124			R -> H (in dbSNP:rs11230983).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GGCTTATGACCGTTTTGTGGC	0.433																																					p.R124S		Atlas-SNP	.											.	OR5D13	96	.	0			c.C370A						.						238.0	231.0	233.0					11																	55541283		2200	4296	6496	SO:0001583	missense	390142	exon1			TATGACCGTTTTG	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.370C>A	chr11.hg19:g.55541283C>A	ENSP00000354800:p.Arg124Ser	154.0	0.0		176.0	72.0	NM_001001967	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	hg19	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511149	0.27036	.	.	ENSG00000198877	ENST00000361760	T	0.77620	-1.11	3.3	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.339612	0.16661	U	0.204770	D	0.84220	0.5424	H	0.97023	3.925	0.20764	N	0.999857	P	0.37985	0.613	B	0.41466	0.358	T	0.77993	-0.2378	10	0.87932	D	0	-0.0508	7.3858	0.26882	0.1802:0.4926:0.3272:0.0	.	124	Q8NGL4	OR5DD_HUMAN	S	124	ENSP00000354800:R124S	ENSP00000354800:R124S	R	+	1	0	OR5D13	55297859	0.013000	0.17824	0.131000	0.22000	0.002000	0.02628	0.316000	0.19469	0.173000	0.19788	0.486000	0.48141	CGT	.	.		0.433	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR8J3	81168	hgsc.bcm.edu	37	11	55905105	55905105	+	Silent	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr11:55905105G>T	ENST00000301529.1	-	1	89	c.90C>A	c.(88-90)gtC>gtA	p.V30V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCACTAGGAAGACCAGGAAGA	0.498																																					p.V30V		Atlas-SNP	.											.	OR8J3	112	.	0			c.C90A						.						124.0	124.0	124.0					11																	55905105		2201	4296	6497	SO:0001819	synonymous_variant	81168	exon1			TAGGAAGACCAGG		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.90C>A	chr11.hg19:g.55905105G>T		167.0	0.0		134.0	63.0	NM_001004064	Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	hg19	CCDS31520.1																																																																																			.	.		0.498	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064	
SLC22A24	283238	hgsc.bcm.edu	37	11	62863471	62863471	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr11:62863471G>C	ENST00000417740.1	-	6	1503	c.1062C>G	c.(1060-1062)tgC>tgG	p.C354W		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						ACCTCACAAAGCACAGGCCGA	0.413																																					p.C354W		Atlas-SNP	.											.	SLC22A24	31	.	0			c.C1062G						.						111.0	93.0	98.0					11																	62863471		692	1591	2283	SO:0001583	missense	283238	exon6			CACAAAGCACAGG		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.1062C>G	chr11.hg19:g.62863471G>C	ENSP00000396586:p.Cys354Trp	171.0	0.0		171.0	70.0	NM_001136506		Missense_Mutation	SNP	ENST00000417740.1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.209	1.030385	0.19512	.	.	ENSG00000197658	ENST00000417740	T	0.58652	0.32	3.68	-2.13	0.07144	.	.	.	.	.	T	0.56426	0.1984	L	0.39898	1.24	0.09310	N	1	D	0.55800	0.973	P	0.61275	0.886	T	0.48246	-0.9052	9	0.38643	T	0.18	.	4.1523	0.10244	0.4463:0.1769:0.3768:0.0	.	354	C9JC66	.	W	354	ENSP00000396586:C354W	ENSP00000396586:C354W	C	-	3	2	SLC22A24	62620047	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.158000	0.10070	-0.557000	0.06126	0.590000	0.80494	TGC	.	.		0.413	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586	
TENM4	26011	hgsc.bcm.edu	37	11	78525437	78525437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr11:78525437G>T	ENST00000278550.7	-	13	2147	c.1685C>A	c.(1684-1686)tCg>tAg	p.S562*		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	562	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GTTATCCACCGACTCTGGGGA	0.522																																					p.S562X		Atlas-SNP	.											.	.	.	.	0			c.C1685A						.						71.0	86.0	81.0					11																	78525437		692	1591	2283	SO:0001587	stop_gained	26011	exon13			TCCACCGACTCTG	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.1685C>A	chr11.hg19:g.78525437G>T	ENSP00000278550:p.Ser562*	237.0	0.0		229.0	91.0	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Nonsense_Mutation	SNP	ENST00000278550.7	hg19	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	41	9.029282	0.99042	.	.	ENSG00000149256	ENST00000278550	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.462	0.90741	0.0:0.0:1.0:0.0	.	.	.	.	X	562	.	.	S	-	2	0	ODZ4	78203085	1.000000	0.71417	0.828000	0.32881	0.276000	0.26787	7.826000	0.86716	2.646000	0.89796	0.655000	0.94253	TCG	.	.		0.522	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
FZD4	8322	hgsc.bcm.edu	37	11	86663371	86663371	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr11:86663371G>T	ENST00000531380.1	-	2	732	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	143	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGCAGTTCAGACTCTCTGGC	0.537																																					p.L143M		Atlas-SNP	.											.	FZD4	52	.	0			c.C427A						.						92.0	96.0	95.0					11																	86663371		2201	4299	6500	SO:0001583	missense	8322	exon2			AGTTCAGACTCTC	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.427C>A	chr11.hg19:g.86663371G>T	ENSP00000434034:p.Leu143Met	175.0	0.0		144.0	51.0	NM_012193	A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	hg19	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678702	0.47886	.	.	ENSG00000174804	ENST00000531380	D	0.84516	-1.86	5.82	5.82	0.92795	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	L	0.58354	1.805	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.88259	0.2922	9	.	.	.	.	10.4781	0.44676	0.1435:0.0:0.8565:0.0	.	143	Q9ULV1	FZD4_HUMAN	M	143	ENSP00000434034:L143M	.	L	-	1	2	FZD4	86341019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.996000	0.63914	2.760000	0.94817	0.655000	0.94253	CTG	.	.		0.537	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193	
GJB2	2706	hgsc.bcm.edu	37	13	20763464	20763464	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr13:20763464G>A	ENST00000382844.1	-	1	455	c.257C>T	c.(256-258)aCg>aTg	p.T86M	GJB2_ENST00000382848.4_Missense_Mutation_p.T86M			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	86			T -> R (in DFNB1A; does not form gap junctions since the mutated protein is confined in the cytoplasm and not transported to the cell membrane; when the mutation is coexpressed with the wild-type protein ionic and biochemical coupling is normal consistent with the recessive nature of the mutation). {ECO:0000269|PubMed:12560944, ECO:0000269|PubMed:19384972}.	T -> S (in Ref. 1; AAD21314). {ECO:0000305}.	cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		GAGCGCTGGCGTGGACACGAA	0.552									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T86M		Atlas-SNP	.											.	GJB2	19	.	0			c.C257T	GRCh37	CM031189|CM065231	GJB2	M		.						104.0	90.0	95.0					13																	20763464		2203	4300	6503	SO:0001583	missense	2706	exon2	Familial Cancer Database	KID syndrome	GCTGGCGTGGACA	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"""Ion channels / Gap junction proteins (connexins)"""	4284	protein-coding gene	gene with protein product	"""connexin 26"""	121011	"""gap junction protein, beta 2, 26kD (connexin 26)"", ""gap junction protein, beta 2, 26kDa (connexin 26)"""	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.257C>T	chr13.hg19:g.20763464G>A	ENSP00000372295:p.Thr86Met	64.0	0.0	743	65.0	26.0	NM_004004	Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Missense_Mutation	SNP	ENST00000382844.1	hg19	CCDS9290.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876910	0.91664	.	.	ENSG00000165474	ENST00000382848;ENST00000382844	D;D	0.99207	-5.56;-5.56	5.33	5.33	0.75918	Connexin, N-terminal (1);	0.057675	0.64402	D	0.000004	D	0.99423	0.9796	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99097	1.0842	10	0.87932	D	0	.	19.382	0.94540	0.0:0.0:1.0:0.0	.	86	P29033	CXB2_HUMAN	M	86	ENSP00000372299:T86M;ENSP00000372295:T86M	ENSP00000372295:T86M	T	-	2	0	GJB2	19661464	1.000000	0.71417	0.962000	0.40283	0.963000	0.63663	9.751000	0.98889	2.636000	0.89361	0.655000	0.94253	ACG	.	.		0.552	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1		
GPR12	2835	hgsc.bcm.edu	37	13	27333433	27333433	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr13:27333433C>A	ENST00000381436.2	-	1	994	c.532G>T	c.(532-534)Ggc>Tgc	p.G178C	GPR12_ENST00000405846.3_Missense_Mutation_p.G178C			P47775	GPR12_HUMAN	G protein-coupled receptor 12	178					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CAGTTCCAGCCCATGACGGGC	0.602																																					p.G178C		Atlas-SNP	.											.	GPR12	67	.	0			c.G532T						.						52.0	47.0	49.0					13																	27333433		2203	4300	6503	SO:0001583	missense	2835	exon2			TCCAGCCCATGAC	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.532G>T	chr13.hg19:g.27333433C>A	ENSP00000370844:p.Gly178Cys	61.0	0.0		70.0	31.0	NM_005288	Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	hg19	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532635	0.85812	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.73681	-0.77;-0.77	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93607	0.6935	10	0.72032	D	0.01	.	19.0843	0.93196	0.0:1.0:0.0:0.0	.	178	P47775	GPR12_HUMAN	C	178	ENSP00000384932:G178C;ENSP00000370844:G178C	ENSP00000370844:G178C	G	-	1	0	GPR12	26231433	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.685000	0.84117	2.532000	0.85374	0.561000	0.74099	GGC	.	.		0.602	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2		
PCDH9	5101	hgsc.bcm.edu	37	13	67799953	67799953	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr13:67799953T>C	ENST00000377865.2	-	1	2754	c.2620A>G	c.(2620-2622)Agg>Ggg	p.R874G	PCDH9_ENST00000544246.1_Missense_Mutation_p.R874G|PCDH9_ENST00000328454.5_Missense_Mutation_p.R874G|PCDH9_ENST00000377861.3_Missense_Mutation_p.R874G|PCDH9_ENST00000456367.1_Missense_Mutation_p.R874G			Q9HC56	PCDH9_HUMAN	protocadherin 9	874					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGACTTCCTTTTCTTTCTT	0.438																																					p.R874G		Atlas-SNP	.											.	PCDH9	252	.	0			c.A2620G						.						83.0	90.0	88.0					13																	67799953		2203	4300	6503	SO:0001583	missense	5101	exon2			ACTTCCTTTTCTT	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2620A>G	chr13.hg19:g.67799953T>C	ENSP00000367096:p.Arg874Gly	141.0	0.0		168.0	69.0	NM_203487	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	hg19	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762666	0.49574	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.87	5.87	0.94306	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.17474	0.49	0.80722	D	1	P;P;P;P	0.42161	0.772;0.463;0.73;0.772	P;B;P;P	0.49192	0.602;0.296;0.467;0.602	T	0.11108	-1.0601	10	0.54805	T	0.06	.	16.2597	0.82535	0.0:0.0:0.0:1.0	.	874;874;874;874	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	G	874	ENSP00000442186:R874G;ENSP00000367096:R874G;ENSP00000401699:R874G;ENSP00000332060:R874G;ENSP00000367092:R874G	ENSP00000332060:R874G	R	-	1	2	PCDH9	66697954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.037000	0.88933	2.243000	0.73865	0.533000	0.62120	AGG	.	.		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
KLHL1	57626	hgsc.bcm.edu	37	13	70535504	70535504	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr13:70535504C>G	ENST00000377844.4	-	3	1512	c.753G>C	c.(751-753)gaG>gaC	p.E251D	KLHL1_ENST00000545028.1_Missense_Mutation_p.E58D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	251	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTTTGATCTCCTCTTGCTTGG	0.413																																					p.E251D		Atlas-SNP	.											.	KLHL1	164	.	0			c.G753C						.						165.0	144.0	151.0					13																	70535504		2203	4300	6503	SO:0001583	missense	57626	exon3			GATCTCCTCTTGC	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.753G>C	chr13.hg19:g.70535504C>G	ENSP00000367075:p.Glu251Asp	108.0	0.0		131.0	62.0	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	hg19	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	9.192	1.026203	0.19512	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.67523	-0.27;-0.27	5.08	-0.334	0.12666	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.084010	0.51477	N	0.000099	T	0.46560	0.1399	L	0.28192	0.835	0.29757	N	0.835898	B;B	0.32338	0.365;0.053	B;B	0.37888	0.26;0.09	T	0.35025	-0.9805	10	0.20519	T	0.43	.	4.0138	0.09634	0.1761:0.2711:0.0:0.5528	.	251;251	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	D	251;58	ENSP00000367075:E251D;ENSP00000439602:E58D	ENSP00000367075:E251D	E	-	3	2	KLHL1	69433505	0.917000	0.31117	0.998000	0.56505	0.739000	0.42172	0.017000	0.13399	0.022000	0.15160	-2.477000	0.00200	GAG	.	.		0.413	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
CHMP4A	29082	hgsc.bcm.edu	37	14	24679870	24679870	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr14:24679870T>A	ENST00000609024.1	-	4	512	c.464A>T	c.(463-465)gAt>gTt	p.D155V	TM9SF1_ENST00000530611.1_Missense_Mutation_p.D155V|TM9SF1_ENST00000556387.1_Missense_Mutation_p.D155V|CHMP4A_ENST00000530996.1_Missense_Mutation_p.D50V|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_Missense_Mutation_p.D198V|CHMP4A_ENST00000542700.2_5'UTR			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	155	Intramolecular interaction with N- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		CTCATCCACATCATCTCCAAA	0.507																																					p.D198V		Atlas-SNP	.											.	CHMP4A	20	.	0			c.A593T						.						207.0	165.0	179.0					14																	24679870		2203	4300	6503	SO:0001583	missense	29082	exon4			TCCACATCATCTC	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.464A>T	chr14.hg19:g.24679870T>A	ENSP00000476412:p.Asp155Val	114.0	0.0		111.0	43.0	NM_014169	Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	hg19		.	.	.	.	.	.	.	.	.	.	T	16.09	3.024946	0.54683	.	.	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.1	3.93	0.45458	.	0.265962	0.26598	N	0.023485	T	0.69415	0.3108	M	0.64997	1.995	0.58432	D	0.999997	B;B	0.20988	0.006;0.05	B;B	0.25140	0.018;0.058	T	0.63862	-0.6541	10	0.34782	T	0.22	-2.9262	9.4369	0.38643	0.1591:0.0:0.0:0.8409	.	155;198	Q9BY43;Q14D22	CHM4A_HUMAN;.	V	155;155;198;165	ENSP00000451949:D155V;ENSP00000433967:D155V;ENSP00000324205:D198V;ENSP00000432575:D165V	ENSP00000324205:D198V	D	-	2	0	TM9SF1;AL096870.1;RP11-468E2.1	23749710	0.992000	0.36948	0.939000	0.37840	0.997000	0.91878	3.757000	0.55212	0.928000	0.37168	0.459000	0.35465	GAT	.	.		0.507	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169	
DYNC1H1	1778	hgsc.bcm.edu	37	14	102500705	102500705	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr14:102500705A>T	ENST00000360184.4	+	56	10834	c.10670A>T	c.(10669-10671)gAt>gTt	p.D3557V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3557	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCCAATGCTGATGAGCGTCTT	0.512																																					p.D3557V		Atlas-SNP	.											.	DYNC1H1	395	.	0			c.A10670T						.						117.0	94.0	102.0					14																	102500705		2203	4300	6503	SO:0001583	missense	1778	exon56			ATGCTGATGAGCG	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10670A>T	chr14.hg19:g.102500705A>T	ENSP00000348965:p.Asp3557Val	147.0	0.0		128.0	55.0	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	hg19	CCDS9966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.08|19.08	3.758791|3.758791	0.69763|0.69763	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000360184|ENST00000553423	T|.	0.52295|.	0.67|.	5.17|5.17	4.01|4.01	0.46588|0.46588	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.43322|.	0.1242|.	N|N	0.20881|0.20881	0.62|0.62	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|.	0.19877|.	-1.0292|.	10|.	0.21014|.	T|.	0.42|.	.|.	11.2|11.2	0.48736|0.48736	0.9271:0.0:0.0729:0.0|0.9271:0.0:0.0729:0.0	.|.	3557|.	Q14204|.	DYHC1_HUMAN|.	V|C	3557|32	ENSP00000348965:D3557V|.	ENSP00000348965:D3557V|.	D|X	+|+	2|3	0|0	DYNC1H1|DYNC1H1	101570458|101570458	1.000000|1.000000	0.71417|0.71417	0.630000|0.630000	0.29268|0.29268	0.667000|0.667000	0.39255|0.39255	9.232000|9.232000	0.95325|0.95325	0.912000|0.912000	0.36772|0.36772	0.482000|0.482000	0.46254|0.46254	GAT|TGA	.	.		0.512	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
SNRPN	6638	hgsc.bcm.edu	37	15	25213230	25213230	+	Splice_Site	SNP	G	G	T	rs368905564		TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr15:25213230G>T	ENST00000400100.1	+	6	747		c.e6+1		SNRPN_ENST00000390687.4_Splice_Site|SNRPN_ENST00000346403.6_Splice_Site|SNURF_ENST00000338327.4_Splice_Site|SNURF_ENST00000577949.1_3'UTR|SNRPN_ENST00000400098.1_Splice_Site|SNRPN_ENST00000400097.1_Splice_Site|SNRPN_ENST00000577565.1_Splice_Site|SNRPN_ENST00000553597.1_Splice_Site|SNURF_ENST00000551312.2_Splice_Site|SNRPN_ENST00000554227.2_Splice_Site|SNURF_ENST00000338094.6_Splice_Site	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N						response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CAAAAACCAGGTTAGAGCTAA	0.403									Prader-Willi syndrome																												.		Atlas-SNP	.											.	SNRPN	58	.	0			.						.						48.0	43.0	45.0					15																	25213230		2203	4300	6503	SO:0001630	splice_region_variant	6638	.	Familial Cancer Database	Prader-Labhart-Willi syndrome	AACCAGGTTAGAG	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.-144+1G>T	chr15.hg19:g.25213230G>T		48.0	0.0		39.0	12.0	.	B3KVR1|P14648|P17135|Q0D2Q5	Splice_Site	SNP	ENST00000400100.1	hg19	CCDS10017.1																																																																																			.	.		0.403	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097	Intron
FMN1	342184	hgsc.bcm.edu	37	15	33260970	33260970	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr15:33260970G>C	ENST00000559047.1	-	5	2931	c.2932C>G	c.(2932-2934)Ccc>Gcc	p.P978A	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.P880A|FMN1_ENST00000334528.9_Missense_Mutation_p.P755A			Q68DA7	FMN1_HUMAN	formin 1	978	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGACAACTGGGCTCGATGGCT	0.502																																					p.P755A		Atlas-SNP	.											.	FMN1	174	.	0			c.C2263G						.						127.0	123.0	124.0					15																	33260970		1844	4092	5936	SO:0001583	missense	342184	exon4			AACTGGGCTCGAT	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2932C>G	chr15.hg19:g.33260970G>C	ENSP00000454047:p.Pro978Ala	200.0	0.0		189.0	57.0	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.32	2.799424	0.50208	.	.	ENSG00000248905	ENST00000334528	T	0.21191	2.02	4.42	3.49	0.39957	.	0.162214	0.56097	D	0.000028	T	0.50905	0.1643	M	0.87758	2.905	.	.	.	D	0.89917	1.0	D	0.97110	1.0	T	0.68146	-0.5486	9	0.72032	D	0.01	.	14.361	0.66771	0.0:0.1491:0.8509:0.0	.	755	Q68DA7-5	.	A	755	ENSP00000333950:P755A	ENSP00000333950:P755A	P	-	1	0	FMN1	31048262	1.000000	0.71417	0.887000	0.34795	0.523000	0.34469	9.488000	0.97947	1.039000	0.40074	0.650000	0.86243	CCC	.	.		0.502	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
MGA	23269	hgsc.bcm.edu	37	15	42042688	42042688	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr15:42042688G>C	ENST00000570161.1	+	16	6883	c.6883G>C	c.(6883-6885)Gac>Cac	p.D2295H	MGA_ENST00000566586.1_Missense_Mutation_p.D2086H|MGA_ENST00000389936.4_Missense_Mutation_p.D2256H|MGA_ENST00000219905.7_Missense_Mutation_p.D2295H|MGA_ENST00000545763.1_Missense_Mutation_p.D2086H			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGCAGTGCTGACTTCACTGT	0.408																																					p.D2295H		Atlas-SNP	.											.	MGA	264	.	0			c.G6883C						.						111.0	102.0	105.0					15																	42042688		1929	4134	6063	SO:0001583	missense	23269	exon17			AGTGCTGACTTCA	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6883G>C	chr15.hg19:g.42042688G>C	ENSP00000457035:p.Asp2295His	119.0	0.0		106.0	48.0	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356832	0.41801	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.89343	-2.48;-2.46;-2.5	5.11	4.18	0.49190	.	1.048350	0.07489	N	0.905276	D	0.91314	0.7261	L	0.27053	0.805	0.24227	N	0.995411	D;D;D;D	0.89917	0.999;0.992;0.999;1.0	D;P;D;D	0.85130	0.927;0.875;0.936;0.997	T	0.82210	-0.0570	10	0.72032	D	0.01	.	13.1062	0.59249	0.0:0.1607:0.8393:0.0	.	911;2086;2295;2256	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	H	2295;2256;2086	ENSP00000219905:D2295H;ENSP00000374586:D2256H;ENSP00000442467:D2086H	ENSP00000219905:D2295H	D	+	1	0	MGA	39829980	1.000000	0.71417	0.994000	0.49952	0.824000	0.46624	5.873000	0.69644	1.355000	0.45865	0.591000	0.81541	GAC	.	.		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
TMEM8A	58986	hgsc.bcm.edu	37	16	422089	422089	+	Silent	SNP	C	C	A	rs141574918	byFrequency	TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr16:422089C>A	ENST00000431232.2	-	13	2374	c.2214G>T	c.(2212-2214)ccG>ccT	p.P738P	MRPL28_ENST00000389675.2_5'Flank|MRPL28_ENST00000429738.1_5'Flank|TMEM8A_ENST00000250930.3_Silent_p.P545P|MRPL28_ENST00000199706.8_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	738					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGTCAGGTGGCGGCAGCAGCA	0.602																																					p.P738P		Atlas-SNP	.											.	TMEM8A	49	.	0			c.G2214T						.						62.0	67.0	65.0					16																	422089		2201	4299	6500	SO:0001819	synonymous_variant	58986	exon13			AGGTGGCGGCAGC	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2214G>T	chr16.hg19:g.422089C>A		91.0	0.0		78.0	27.0	NM_021259	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	hg19	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	2.336	-0.352223	0.05173	.	.	ENSG00000129925	ENST00000424078	.	.	.	4.3	-8.59	0.00893	.	.	.	.	.	T	0.35335	0.0928	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41680	-0.9495	4	.	.	.	-2.3796	3.1236	0.06400	0.1599:0.2948:0.0857:0.4596	.	.	.	.	L	206	.	.	R	-	2	0	TMEM8A	362090	0.000000	0.05858	0.432000	0.26747	0.098000	0.18820	-3.821000	0.00358	-1.468000	0.01892	-0.384000	0.06662	CGC	.	C|1.000;T|0.000		0.602	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259	
ITGAM	3684	hgsc.bcm.edu	37	16	31332817	31332817	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr16:31332817T>C	ENST00000287497.8	+	16	1946	c.1871T>C	c.(1870-1872)aTg>aCg	p.M624T	ITGAM_ENST00000544665.3_Missense_Mutation_p.M625T			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	624					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAGGCAATCATGGAGTTCAAT	0.498																																					p.M625T		Atlas-SNP	.											.	ITGAM	137	.	0			c.T1874C						.						302.0	301.0	302.0					16																	31332817		2084	4226	6310	SO:0001583	missense	3684	exon16			CAATCATGGAGTT	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1871T>C	chr16.hg19:g.31332817T>C	ENSP00000287497:p.Met624Thr	173.0	0.0		159.0	66.0	NM_001145808	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	hg19	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844131	0.32606	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.60672	0.17;0.17	4.83	4.83	0.62350	Integrin alpha-2 (1);	.	.	.	.	T	0.74913	0.3779	M	0.83603	2.65	0.31651	N	0.646857	D;D;D	0.69078	0.997;0.978;0.978	D;P;P	0.67548	0.952;0.897;0.897	T	0.79349	-0.1840	9	0.87932	D	0	.	10.7095	0.45975	0.0:0.0:0.0:1.0	.	30;624;624	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	T	625;624	ENSP00000441691:M625T;ENSP00000287497:M624T	ENSP00000287497:M624T	M	+	2	0	ITGAM	31240318	0.997000	0.39634	0.919000	0.36401	0.064000	0.16182	3.759000	0.55227	2.006000	0.58801	0.533000	0.62120	ATG	.	.		0.498	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ITGAM	3684	hgsc.bcm.edu	37	16	31336335	31336335	+	Silent	SNP	C	C	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr16:31336335C>A	ENST00000287497.8	+	19	2421	c.2346C>A	c.(2344-2346)atC>atA	p.I782I	ITGAM_ENST00000544665.3_Silent_p.I783I			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	782					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACCTCAGCATCACCTTCAGTT	0.448																																					p.I783I		Atlas-SNP	.											.	ITGAM	137	.	0			c.C2349A						.						76.0	72.0	73.0					16																	31336335		1923	4137	6060	SO:0001819	synonymous_variant	3684	exon19			CAGCATCACCTTC	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2346C>A	chr16.hg19:g.31336335C>A		59.0	0.0		60.0	18.0	NM_001145808	Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	hg19	CCDS45470.1																																																																																			.	.		0.448	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
TGFB1I1	7041	hgsc.bcm.edu	37	16	31485920	31485920	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr16:31485920A>C	ENST00000394863.3	+	7	686	c.556A>C	c.(556-558)Agc>Cgc	p.S186R	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.S169R|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.S169R|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.S169R	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	186	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						ACCGGTGGTGAGCTCCACAAA	0.622																																					p.S186R		Atlas-SNP	.											.	TGFB1I1	60	.	0			c.A556C						.						27.0	25.0	26.0					16																	31485920		2197	4300	6497	SO:0001583	missense	7041	exon7			GTGGTGAGCTCCA	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.556A>C	chr16.hg19:g.31485920A>C	ENSP00000378332:p.Ser186Arg	112.0	0.0		108.0	44.0	NM_001042454	B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	hg19	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	A	5.056	0.196085	0.09599	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.57107	0.42;0.42;0.42	5.22	4.06	0.47325	.	0.801737	0.12152	N	0.494747	T	0.46560	0.1399	L	0.54323	1.7	0.09310	N	0.999998	B	0.09022	0.002	B	0.08055	0.003	T	0.36648	-0.9739	10	0.52906	T	0.07	.	7.9285	0.29889	0.8173:0.0:0.0:0.1827	.	186	O43294	TGFI1_HUMAN	R	186;169;169	ENSP00000378332:S186R;ENSP00000355117:S169R;ENSP00000378327:S169R	ENSP00000355117:S169R	S	+	1	0	TGFB1I1	31393421	0.533000	0.26354	0.008000	0.14137	0.061000	0.15899	2.982000	0.49337	2.099000	0.63709	0.533000	0.62120	AGC	.	.		0.622	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3		
MYO1C	4641	hgsc.bcm.edu	37	17	1378257	1378257	+	Silent	SNP	C	C	A	rs551011507	byFrequency	TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr17:1378257C>A	ENST00000575158.1	-	15	1715	c.1539G>T	c.(1537-1539)gcG>gcT	p.A513A	MYO1C_ENST00000545534.2_Silent_p.A524A|MYO1C_ENST00000361007.2_Silent_p.A513A|MYO1C_ENST00000359786.5_Silent_p.A548A|MYO1C_ENST00000438665.2_Silent_p.A529A			Q12965	MYO1E_HUMAN	myosin IC	508	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCACCTCCCCCGCATAGTGCA	0.652																																					p.A548A		Atlas-SNP	.											.	MYO1C	57	.	0			c.G1644T						.						55.0	49.0	51.0					17																	1378257		2198	4294	6492	SO:0001819	synonymous_variant	4641	exon15			CTCCCCCGCATAG	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1539G>T	chr17.hg19:g.1378257C>A		98.0	0.0		122.0	49.0	NM_001080779	Q14778	Silent	SNP	ENST00000575158.1	hg19	CCDS11003.1																																																																																			.	.		0.652	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2		
USP43	124739	hgsc.bcm.edu	37	17	9604706	9604706	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr17:9604706A>T	ENST00000285199.7	+	12	1796	c.1700A>T	c.(1699-1701)cAa>cTa	p.Q567L	USP43_ENST00000570475.1_Missense_Mutation_p.Q567L|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	567	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCTCACTGCCAAGTCCTGCAG	0.597																																					p.Q567L		Atlas-SNP	.											.	USP43	65	.	0			c.A1700T						.						32.0	34.0	33.0					17																	9604706		2170	4266	6436	SO:0001583	missense	124739	exon12			ACTGCCAAGTCCT	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1700A>T	chr17.hg19:g.9604706A>T	ENSP00000285199:p.Gln567Leu	75.0	0.0		57.0	23.0	NM_001267576	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	hg19	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795517	0.50208	.	.	ENSG00000154914	ENST00000285199	T	0.02837	4.14	5.12	3.96	0.45880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.276734	0.31897	N	0.006898	T	0.03434	0.0099	L	0.38838	1.175	0.38490	D	0.947943	P;P;B;B	0.35124	0.485;0.469;0.367;0.356	B;B;B;B	0.37550	0.253;0.158;0.216;0.138	T	0.47497	-0.9113	10	0.87932	D	0	-1.0423	9.2684	0.37657	0.8385:0.0:0.0:0.1615	.	567;256;567;79	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	L	567	ENSP00000285199:Q567L	ENSP00000285199:Q567L	Q	+	2	0	USP43	9545431	1.000000	0.71417	0.058000	0.19502	0.860000	0.49131	3.982000	0.56909	2.040000	0.60383	0.460000	0.39030	CAA	.	.		0.597	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210	
SUPT6H	6830	hgsc.bcm.edu	37	17	27028455	27028455	+	Splice_Site	SNP	A	A	G			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr17:27028455A>G	ENST00000314616.6	+	37	5277		c.e37-1		PROCA1_ENST00000579650.1_5'Flank|SUPT6H_ENST00000347486.4_Splice_Site	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTCCCCTCCCAGGTCCAACAG	0.542																																					.		Atlas-SNP	.											.	SUPT6H	165	.	0			c.4995-2A>G						.						58.0	58.0	58.0					17																	27028455		2203	4300	6503	SO:0001630	splice_region_variant	6830	exon37			CCTCCCAGGTCCA	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4995-1A>G	chr17.hg19:g.27028455A>G		70.0	0.0		66.0	34.0	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Splice_Site	SNP	ENST00000314616.6	hg19	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932710	0.73442	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7254	0.77751	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUPT6H	24052582	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.647000	0.91057	2.120000	0.65058	0.460000	0.39030	.	.	.		0.542	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	Intron
KRTAP17-1	83902	hgsc.bcm.edu	37	17	39471767	39471767	+	Missense_Mutation	SNP	A	A	T	rs572148015|rs386797077	byFrequency	TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr17:39471767A>T	ENST00000334202.3	-	1	180	c.136T>A	c.(136-138)Tct>Act	p.S46T		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	46						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ccgcagccagagcccccgcag	0.687																																					p.S46T		Atlas-SNP	.											.	KRTAP17-1	14	.	0			c.T136A						.						9.0	14.0	12.0					17																	39471767		2165	4218	6383	SO:0001583	missense	83902	exon1			AGCCAGAGCCCCC	AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"""Keratin associated proteins"""	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.136T>A	chr17.hg19:g.39471767A>T	ENSP00000333993:p.Ser46Thr	24.0	0.0		54.0	6.0	NM_031964		Missense_Mutation	SNP	ENST00000334202.3	hg19	CCDS11387.1	.	.	.	.	.	.	.	.	.	.	A	5.663	0.306859	0.10733	.	.	ENSG00000186860	ENST00000334202	.	.	.	3.53	-5.98	0.02220	.	.	.	.	.	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.23574	0.047	T	0.35076	-0.9803	8	0.87932	D	0	4.2542	8.5795	0.33619	0.2025:0.6771:0.0:0.1203	.	46	Q9BYP8	KR171_HUMAN	T	46	.	ENSP00000333993:S46T	S	-	1	0	KRTAP17-1	36725293	0.005000	0.15991	0.001000	0.08648	0.449000	0.32228	0.296000	0.19083	-1.344000	0.02216	0.369000	0.22263	TCT	.	.		0.687	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1		
KRT16	3868	hgsc.bcm.edu	37	17	39766282	39766282	+	Splice_Site	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr17:39766282C>T	ENST00000301653.4	-	8	1392		c.e8-1			NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16						aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GAGGTGAAGACTGTGGGAGAG	0.617																																					.		Atlas-SNP	.											.	KRT16	45	.	0			c.1328-1G>A						.						27.0	27.0	27.0					17																	39766282		2203	4300	6503	SO:0001630	splice_region_variant	3868	exon9			TGAAGACTGTGGG	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1328-1G>A	chr17.hg19:g.39766282C>T		89.0	0.0		78.0	29.0	NM_005557	A8K488|P30654|Q16402|Q9UBG8	Splice_Site	SNP	ENST00000301653.4	hg19	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308070	0.40895	.	.	ENSG00000186832	ENST00000301653	.	.	.	4.59	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.20074	N	0.999936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1917	0.01866	0.3889:0.2267:0.2317:0.1526	.	.	.	.	.	-1	.	.	.	-	.	.	KRT16	37019808	0.001000	0.12720	0.001000	0.08648	0.824000	0.46624	0.575000	0.23729	-0.015000	0.14150	0.462000	0.41574	.	.	.		0.617	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557	Intron
CTAGE1	64693	hgsc.bcm.edu	37	18	19997418	19997418	+	5'Flank	SNP	T	T	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr18:19997418T>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.E119D			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTAACTCTTTTTCTAGACAGA	0.388																																					p.E119D		Atlas-SNP	.											.	CTAGE1	146	.	0			c.A357T						.						96.0	106.0	103.0					18																	19997418		2166	4290	6456	SO:0001631	upstream_gene_variant	64693	exon1			CTCTTTTTCTAGA	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			chr18.hg19:g.19997418T>A	Exception_encountered	136.0	0.0		99.0	36.0	NM_172241	B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	hg19		.	.	.	.	.	.	.	.	.	.	T	16.58	3.162660	0.57368	.	.	ENSG00000212710	ENST00000391403	T	0.76709	-1.04	0.949	-0.479	0.12089	.	.	.	.	.	D	0.84083	0.5394	M	0.82923	2.615	0.21105	N	0.999785	D	0.69078	0.997	D	0.66847	0.947	T	0.71297	-0.4635	8	.	.	.	.	3.0429	0.06143	0.0:0.3164:0.0:0.6836	.	119	Q96RT6	CTGE2_HUMAN	D	119	ENSP00000375220:E119D	.	E	-	3	2	CTAGE1	18251416	0.001000	0.12720	0.327000	0.25402	0.698000	0.40448	-0.829000	0.04415	-0.168000	0.10853	0.374000	0.22700	GAA	.	.		0.388	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241	
LIPG	9388	hgsc.bcm.edu	37	18	47101852	47101852	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr18:47101852A>T	ENST00000261292.4	+	5	963	c.685A>T	c.(685-687)Agc>Tgc	p.S229C	LIPG_ENST00000427224.2_Intron|LIPG_ENST00000580036.1_Missense_Mutation_p.S229C|LIPG_ENST00000577628.1_Missense_Mutation_p.S265C	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	229					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CTTCGGCTTGAGCATTGGTAT	0.552																																					p.S229C	Pancreas(126;280 1778 12814 26243 34948)	Atlas-SNP	.											.	LIPG	47	.	0			c.A685T						.						101.0	79.0	87.0					18																	47101852		2203	4300	6503	SO:0001583	missense	9388	exon5			GGCTTGAGCATTG	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.685A>T	chr18.hg19:g.47101852A>T	ENSP00000261292:p.Ser229Cys	95.0	0.0		91.0	34.0	NM_006033	B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	hg19	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.910730	0.92107	.	.	ENSG00000101670	ENST00000261292	D	0.91843	-2.92	5.72	5.72	0.89469	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.97737	1.0206	10	0.87932	D	0	-13.9412	15.9791	0.80094	1.0:0.0:0.0:0.0	.	229;229	Q9Y5X9;Q9Y5X9-2	LIPE_HUMAN;.	C	229	ENSP00000261292:S229C	ENSP00000261292:S229C	S	+	1	0	LIPG	45355850	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.331000	0.96430	2.182000	0.69389	0.482000	0.46254	AGC	.	.		0.552	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033	
CCDC68	80323	hgsc.bcm.edu	37	18	52604137	52604137	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr18:52604137C>T	ENST00000591504.1	-	6	672	c.398G>A	c.(397-399)aGa>aAa	p.R133K	CCDC68_ENST00000432185.1_Missense_Mutation_p.R133K|CCDC68_ENST00000337363.4_Missense_Mutation_p.R133K	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	133										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTCAAATAATCTCTGGGCCAC	0.433																																					p.R133K		Atlas-SNP	.											CCDC68,NS,malignant_melanoma,0,1	CCDC68	38	.	0			c.G398A						.						162.0	136.0	144.0					18																	52604137		2203	4300	6503	SO:0001583	missense	80323	exon6			AATAATCTCTGGG		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.398G>A	chr18.hg19:g.52604137C>T	ENSP00000466690:p.Arg133Lys	122.0	0.0		87.0	37.0	NM_025214	B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	hg19	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	C	6.320	0.427144	0.11987	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.49720	0.77;0.77	5.53	1.17	0.20885	.	0.359032	0.27586	N	0.018715	T	0.27384	0.0672	L	0.37466	1.105	0.24440	N	0.994534	B	0.06786	0.001	B	0.09377	0.004	T	0.27640	-1.0068	10	0.02654	T	1	-8.6657	6.6013	0.22703	0.0:0.5117:0.0:0.4883	.	133	Q9H2F9	CCD68_HUMAN	K	133	ENSP00000337209:R133K;ENSP00000413406:R133K	ENSP00000337209:R133K	R	-	2	0	CCDC68	50755135	0.644000	0.27277	0.980000	0.43619	0.954000	0.61252	0.131000	0.15870	0.391000	0.25143	0.650000	0.86243	AGA	.	.		0.433	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214	
SAFB2	9667	hgsc.bcm.edu	37	19	5594100	5594100	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:5594100A>C	ENST00000252542.4	-	15	2273	c.2009T>G	c.(2008-2010)cTc>cGc	p.L670R		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	670	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTGGCACTCGAGCTGCAGGCG	0.721																																					p.L670R	Ovarian(127;888 1728 23957 44128 52668)	Atlas-SNP	.											.	SAFB2	90	.	0			c.T2009G						.						8.0	11.0	10.0					19																	5594100		2153	4229	6382	SO:0001583	missense	9667	exon15			CACTCGAGCTGCA	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2009T>G	chr19.hg19:g.5594100A>C	ENSP00000252542:p.Leu670Arg	89.0	0.0		71.0	25.0	NM_014649	B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	hg19	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.369314	0.42003	.	.	ENSG00000130254	ENST00000252542	T	0.20738	2.05	4.33	4.33	0.51752	.	0.318954	0.21251	N	0.077644	T	0.43500	0.1250	M	0.75615	2.305	0.58432	D	0.999998	D	0.76494	0.999	D	0.69307	0.963	T	0.30563	-0.9974	10	0.37606	T	0.19	-8.5728	12.688	0.56958	1.0:0.0:0.0:0.0	.	670	Q14151	SAFB2_HUMAN	R	670	ENSP00000252542:L670R	ENSP00000252542:L670R	L	-	2	0	SAFB2	5545100	0.995000	0.38212	0.174000	0.22961	0.149000	0.21700	5.241000	0.65384	1.586000	0.49944	0.358000	0.22013	CTC	.	.		0.721	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649	
SMARCA4	6597	hgsc.bcm.edu	37	19	11143970	11143970	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:11143970T>C	ENST00000429416.3	+	27	3832	c.3551T>C	c.(3550-3552)cTg>cCg	p.L1184P	SMARCA4_ENST00000344626.4_Missense_Mutation_p.L1184P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L1184P|SMARCA4_ENST00000358026.2_Missense_Mutation_p.L1184P|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L1184P|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L1184P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L1184P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L1184P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L1184P	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1184	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCCAGGACCTGCAAGCGCAG	0.622			"""F, N, Mis"""		NSCLC																																p.L1184P		Atlas-SNP	.		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	SMARCA4	502	.	1	Unknown(1)	lung(1)	c.T3551C						.						43.0	44.0	44.0					19																	11143970		2203	4298	6501	SO:0001583	missense	6597	exon26			AGGACCTGCAAGC	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3551T>C	chr19.hg19:g.11143970T>C	ENSP00000395654:p.Leu1184Pro	146.0	0.0		132.0	56.0	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663223	0.67700	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000009	D	0.92110	0.7499	H	0.98089	4.145	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.996;0.996;0.996;0.99;0.999;0.996;0.996	D	0.94547	0.7750	10	0.87932	D	0	-32.0752	13.3948	0.60846	0.0:0.0:0.0:1.0	.	1184;1184;1184;1184;1184;404;1184	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	P	1184;1184;1248;1184;1184;1184;1184;1184	ENSP00000395654:L1184P;ENSP00000350720:L1184P;ENSP00000343896:L1184P;ENSP00000445036:L1184P;ENSP00000392837:L1184P;ENSP00000397783:L1184P;ENSP00000414727:L1184P	ENSP00000343896:L1184P	L	+	2	0	SMARCA4	11004970	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.596000	0.82721	2.012000	0.59069	0.456000	0.33151	CTG	.	.		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
MYO9B	4650	hgsc.bcm.edu	37	19	17321609	17321609	+	Missense_Mutation	SNP	G	G	A	rs373618149		TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:17321609G>A	ENST00000594824.1	+	38	6029	c.5882G>A	c.(5881-5883)cGg>cAg	p.R1961Q	MYO9B_ENST00000397274.2_Missense_Mutation_p.R1961Q|MYO9B_ENST00000595618.1_Missense_Mutation_p.R1961Q|CTD-3032J10.3_ENST00000601929.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	1961	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GATGAGGACCGGGAAAAGGAG	0.577																																					p.R1961Q		Atlas-SNP	.											.	MYO9B	264	.	0			c.G5882A						.	G	GLN/ARG,GLN/ARG	1,4227		0,1,2113	37.0	49.0	45.0		5882,5882	2.9	0.5	19		45	0,8454		0,0,4227	no	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	43,43	0,1,6340	AA,AG,GG		0.0,0.0237,0.0079	probably-damaging,probably-damaging	1961/2023,1961/2158	17321609	1,12681	2114	4227	6341	SO:0001583	missense	4650	exon38			AGGACCGGGAAAA		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5882G>A	chr19.hg19:g.17321609G>A	ENSP00000471367:p.Arg1961Gln	100.0	0.0		84.0	38.0	NM_001130065	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.281	1.048246	0.19827	2.37E-4	0.0	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.83419	-1.72	5.01	2.89	0.33648	.	0.000000	0.43416	D	0.000567	T	0.67135	0.2861	N	0.25380	0.74	0.31904	N	0.615594	B;B;B	0.30361	0.231;0.231;0.277	B;B;B	0.14023	0.01;0.01;0.01	T	0.62886	-0.6759	10	0.18710	T	0.47	.	9.8479	0.41039	0.1659:0.0:0.8341:0.0	.	1961;1961;1967	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Q	1961;306	ENSP00000380444:R1961Q	ENSP00000314032:R306Q	R	+	2	0	MYO9B	17182609	0.948000	0.32251	0.509000	0.27700	0.369000	0.29798	4.006000	0.57083	0.518000	0.28383	0.561000	0.74099	CGG	.	.		0.577	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		
ZNF714	148206	hgsc.bcm.edu	37	19	21299777	21299777	+	Missense_Mutation	SNP	G	G	A	rs111443257		TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:21299777G>A	ENST00000596143.1	+	5	632	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AAAAGGTTATGAACTAAACCA	0.328																																					p.E103K		Atlas-SNP	.											.	ZNF714	121	.	0			c.G307A						.						39.0	38.0	38.0					19																	21299777		2190	4291	6481	SO:0001583	missense	148206	exon5			GGTTATGAACTAA	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.307G>A	chr19.hg19:g.21299777G>A	ENSP00000472368:p.Glu103Lys	435.0	0.0		457.0	25.0	NM_182515	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	hg19	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	0.388	-0.924824	0.02377	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.394	0.394	0.16299	.	.	.	.	.	T	0.22322	0.0538	L	0.27975	0.815	0.09310	N	1	B;P	0.37781	0.004;0.608	B;B	0.35413	0.004;0.202	T	0.14062	-1.0486	7	0.56958	D	0.05	.	.	.	.	.	104;103	Q96N38-2;A6NEM4	.;.	K	103	.	ENSP00000291770:E103K	E	+	1	0	ZNF714	21091617	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.857000	0.04286	0.452000	0.26830	0.456000	0.33151	GAA	.	.		0.328	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF99	7652	hgsc.bcm.edu	37	19	22940876	22940876	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:22940876T>A	ENST00000596209.1	-	4	1925	c.1835A>T	c.(1834-1836)cAg>cTg	p.Q612L	ZNF99_ENST00000397104.3_Missense_Mutation_p.Q521L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGAATTATCTGATGTTTTCT	0.378																																					p.Q612L		Atlas-SNP	.											.	ZNF99	273	.	0			c.A1835T						.						35.0	39.0	38.0					19																	22940876		1966	4190	6156	SO:0001583	missense	7652	exon4			ATTATCTGATGTT	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1835A>T	chr19.hg19:g.22940876T>A	ENSP00000472969:p.Gln612Leu	166.0	0.0		177.0	82.0	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	hg19	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	4.658	0.122266	0.08931	.	.	ENSG00000213973	ENST00000397104	T	0.36340	1.26	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20047	0.0482	N	0.16266	0.395	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.21415	-1.0246	9	0.87932	D	0	.	4.2921	0.10883	0.0:0.2167:0.0:0.7833	.	521	A8MXY4	ZNF99_HUMAN	L	521	ENSP00000380293:Q521L	ENSP00000380293:Q521L	Q	-	2	0	ZNF99	22732716	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.487000	0.06505	0.501000	0.28013	0.163000	0.16589	CAG	.	.		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF527	84503	hgsc.bcm.edu	37	19	37880756	37880756	+	Missense_Mutation	SNP	G	G	T	rs202094634		TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:37880756G>T	ENST00000436120.2	+	5	1912	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGACATCAGAGAATTCATAAT	0.348																																					p.R602I		Atlas-SNP	.											.	ZNF527	78	.	0			c.G1805T						.						53.0	54.0	54.0					19																	37880756		1971	4182	6153	SO:0001583	missense	84503	exon5			ATCAGAGAATTCA	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1805G>T	chr19.hg19:g.37880756G>T	ENSP00000390179:p.Arg602Ile	70.0	0.0		54.0	23.0	NM_032453	B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	hg19	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615400	0.28801	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.91	0.389	0.16269	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.229124	0.22584	N	0.058161	T	0.58878	0.2153	M	0.77712	2.385	0.80722	D	1	B;B	0.24186	0.06;0.099	B;B	0.26416	0.031;0.069	T	0.55023	-0.8205	9	0.72032	D	0.01	.	7.5375	0.27719	0.5704:0.0:0.4296:0.0	.	602;570	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	I	602;570;550	.	ENSP00000325231:R570I	R	+	2	0	ZNF527	42572596	0.000000	0.05858	0.744000	0.31058	0.780000	0.44128	0.068000	0.14531	-0.084000	0.12595	0.655000	0.94253	AGA	.	G|0.999;T|0.001		0.348	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453	
RYR1	6261	hgsc.bcm.edu	37	19	38956904	38956904	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:38956904G>A	ENST00000359596.3	+	24	3044	c.3044G>A	c.(3043-3045)cGc>cAc	p.R1015H	RYR1_ENST00000355481.4_Missense_Mutation_p.R1015H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1015H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1015	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R1015H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATCCCAGCGCGCCGAAACCCT	0.677																																					p.R1015H		Atlas-SNP	.											RYR1,NS,carcinoma,+1,1	RYR1	708	.	1	Substitution - Missense(1)	endometrium(1)	c.G3044A						.						43.0	41.0	42.0					19																	38956904		2200	4299	6499	SO:0001583	missense	6261	exon24			CAGCGCGCCGAAA	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3044G>A	chr19.hg19:g.38956904G>A	ENSP00000352608:p.Arg1015His	160.0	0.0		130.0	48.0	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	11.67	1.708236	0.30322	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91740	-2.9;-2.9;-2.9	3.8	3.8	0.43715	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.206543	0.30134	U	0.010337	D	0.93936	0.8059	M	0.68952	2.095	0.31797	N	0.628888	D;D	0.76494	0.996;0.999	D;D	0.73708	0.936;0.981	D	0.92296	0.5845	10	0.54805	T	0.06	.	7.1924	0.25832	0.121:0.0:0.879:0.0	.	1015;1015	P21817-2;P21817	.;RYR1_HUMAN	H	1015	ENSP00000352608:R1015H;ENSP00000347667:R1015H;ENSP00000354254:R1015H	ENSP00000347667:R1015H	R	+	2	0	RYR1	43648744	0.951000	0.32395	0.989000	0.46669	0.294000	0.27393	1.734000	0.38166	1.988000	0.58038	0.444000	0.29173	CGC	.	.		0.677	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
BCL3	602	hgsc.bcm.edu	37	19	45260629	45260629	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:45260629C>T	ENST00000164227.5	+	5	1014	c.770C>T	c.(769-771)aCc>aTc	p.T257I		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	257					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TGCCAAGAAACCGTGCAGCTC	0.667			T	IGH@	CLL																																p.T257I		Atlas-SNP	.		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	.	BCL3	28	.	0			c.C770T						.						25.0	19.0	21.0					19																	45260629		2203	4298	6501	SO:0001583	missense	602	exon5			AAGAAACCGTGCA	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.770C>T	chr19.hg19:g.45260629C>T	ENSP00000164227:p.Thr257Ile	179.0	0.0		136.0	53.0	NM_005178		Missense_Mutation	SNP	ENST00000164227.5	hg19	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237881	0.22711	.	.	ENSG00000069399	ENST00000403534;ENST00000164227	T	0.60171	0.21	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.296735	0.24091	N	0.041622	T	0.28234	0.0697	N	0.02213	-0.635	0.09310	N	0.999992	B	0.18863	0.031	B	0.17098	0.017	T	0.07539	-1.0767	10	0.06236	T	0.91	-25.5142	13.1677	0.59581	0.0:1.0:0.0:0.0	.	257	P20749	BCL3_HUMAN	I	217;257	ENSP00000164227:T257I	ENSP00000164227:T257I	T	+	2	0	BCL3	49952469	0.021000	0.18746	0.566000	0.28421	0.618000	0.37518	2.341000	0.43983	2.178000	0.69098	0.305000	0.20034	ACC	.	.		0.667	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178	
HAS1	3036	hgsc.bcm.edu	37	19	52216886	52216886	+	Silent	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:52216886G>A	ENST00000222115.1	-	5	1565	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	HAS1_ENST00000601714.1_Silent_p.L518L|HAS1_ENST00000540069.2_Silent_p.L510L	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	511					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCAGCAGCAGCGCCCAGAGC	0.721																																					p.L511L	NSCLC(132;636 2450 45807 47979)	Atlas-SNP	.											.	HAS1	61	.	0			c.C1531T						.						5.0	5.0	5.0					19																	52216886		2042	4012	6054	SO:0001819	synonymous_variant	3036	exon5			GCAGCAGCGCCCA	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1531C>T	chr19.hg19:g.52216886G>A		118.0	0.0		117.0	46.0	NM_001523	Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	hg19	CCDS12838.1																																																																																			.	.		0.721	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523	
ZNF578	147660	hgsc.bcm.edu	37	19	53014279	53014279	+	Silent	SNP	A	A	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:53014279A>T	ENST00000421239.2	+	6	889	c.645A>T	c.(643-645)tcA>tcT	p.S215S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTTTCCATTCATCATTACTCA	0.358																																					p.S215S		Atlas-SNP	.											.	.	.	.	0			c.A645T						.						67.0	70.0	69.0					19																	53014279		2201	4299	6500	SO:0001819	synonymous_variant	147660	exon6			CCATTCATCATTA	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.645A>T	chr19.hg19:g.53014279A>T		299.0	0.0		308.0	116.0	NM_001099694	B4DR51|I3L1Y6	Silent	SNP	ENST00000421239.2	hg19	CCDS54310.1																																																																																			.	.		0.358	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	
ZNF347	84671	hgsc.bcm.edu	37	19	53644667	53644667	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:53644667G>A	ENST00000334197.7	-	5	1482	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.L473F|ZNF347_ENST00000601469.2_Missense_Mutation_p.L473F	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGCCTTGCAAGGTGTGAATTA	0.428																																					p.L473F	Melanoma(64;205 1597 17324 45721)	Atlas-SNP	.											.	ZNF347	87	.	0			c.C1417T						.						147.0	145.0	146.0					19																	53644667		2203	4300	6503	SO:0001583	missense	84671	exon5			TTGCAAGGTGTGA	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1414C>T	chr19.hg19:g.53644667G>A	ENSP00000334146:p.Leu472Phe	109.0	0.0		110.0	47.0	NM_001172675	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	hg19	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118790	0.37436	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.52057	0.68;0.68	2.61	1.52	0.23074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65842	0.2730	M	0.84683	2.71	0.09310	N	1	D;D	0.89917	1.0;0.991	D;P	0.97110	1.0;0.825	T	0.51228	-0.8732	9	0.49607	T	0.09	.	5.1408	0.14957	0.124:0.0:0.6749:0.2011	.	473;472	G5E9N4;Q96SE7	.;ZN347_HUMAN	F	472;473	ENSP00000334146:L472F;ENSP00000405218:L473F	ENSP00000334146:L472F	L	-	1	0	ZNF347	58336479	0.460000	0.25776	0.003000	0.11579	0.007000	0.05969	1.464000	0.35288	0.439000	0.26476	0.655000	0.94253	CTT	.	.		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
C20orf96	140680	hgsc.bcm.edu	37	20	270284	270284	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr20:270284T>C	ENST00000360321.2	-	3	241	c.103A>G	c.(103-105)Acc>Gcc	p.T35A	C20orf96_ENST00000400269.3_Intron|C20orf96_ENST00000382369.5_Intron	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	35										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GATGGCTTGGTTTCCTGCTTG	0.463																																					p.T35A		Atlas-SNP	.											.	C20orf96	28	.	0			c.A103G						.						164.0	137.0	146.0					20																	270284		2203	4300	6503	SO:0001583	missense	140680	exon3			GCTTGGTTTCCTG	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.103A>G	chr20.hg19:g.270284T>C	ENSP00000353470:p.Thr35Ala	168.0	0.0		140.0	61.0	NM_153269	A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	ENST00000360321.2	hg19	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.563605	0.00903	.	.	ENSG00000196476	ENST00000360321	T	0.41065	1.01	3.95	-2.07	0.07276	.	1.078640	0.07210	N	0.858980	T	0.20536	0.0494	N	0.17082	0.46	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.21999	-1.0229	10	0.13853	T	0.58	-10.8412	3.3819	0.07257	0.26:0.3767:0.0:0.3633	.	35	Q9NUD7	CT096_HUMAN	A	35	ENSP00000353470:T35A	ENSP00000353470:T35A	T	-	1	0	C20orf96	218284	0.000000	0.05858	0.003000	0.11579	0.358000	0.29455	-0.352000	0.07701	-0.390000	0.07774	0.374000	0.22700	ACC	.	.		0.463	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269	
ZNF217	7764	hgsc.bcm.edu	37	20	52198237	52198237	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr20:52198237A>T	ENST00000371471.2	-	2	1554	c.1129T>A	c.(1129-1131)Tgc>Agc	p.C377S	ZNF217_ENST00000302342.3_Missense_Mutation_p.C377S|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	377					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CACTCGGAGCAGTGAGTGGGC	0.612																																					p.C377S		Atlas-SNP	.											.	ZNF217	227	.	0			c.T1129A						.						96.0	99.0	98.0					20																	52198237		2203	4300	6503	SO:0001583	missense	7764	exon1			CGGAGCAGTGAGT	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1129T>A	chr20.hg19:g.52198237A>T	ENSP00000360526:p.Cys377Ser	126.0	0.0		94.0	42.0	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	hg19	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748109	0.69533	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.59638	0.25;0.25	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.80654	0.4664	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84958	0.0875	10	0.87932	D	0	-29.0809	15.6258	0.76855	1.0:0.0:0.0:0.0	.	377	O75362	ZN217_HUMAN	S	377	ENSP00000360526:C377S;ENSP00000304308:C377S	ENSP00000304308:C377S	C	-	1	0	ZNF217	51631644	1.000000	0.71417	0.560000	0.28344	0.343000	0.28985	8.838000	0.92115	2.170000	0.68504	0.482000	0.46254	TGC	.	.		0.612	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
SYCP2	10388	hgsc.bcm.edu	37	20	58496502	58496502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr20:58496502C>A	ENST00000357552.3	-	4	256	c.31G>T	c.(31-33)Gaa>Taa	p.E11*	SYCP2_ENST00000476314.1_5'UTR|SYCP2_ENST00000371001.2_Nonsense_Mutation_p.E11*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	11					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATGCATTTTTCCAACTGCTAG	0.284																																					p.E11X		Atlas-SNP	.											.	SYCP2	204	.	0			c.G31T						.						33.0	32.0	32.0					20																	58496502		2200	4285	6485	SO:0001587	stop_gained	10388	exon3			ATTTTTCCAACTG	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.31G>T	chr20.hg19:g.58496502C>A	ENSP00000350162:p.Glu11*	170.0	0.0		209.0	89.0	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Nonsense_Mutation	SNP	ENST00000357552.3	hg19	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702171	0.96812	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	.	.	.	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.6222	18.7497	0.91809	0.0:1.0:0.0:0.0	.	.	.	.	X	11;11;11;10	.	ENSP00000350162:E11X	E	-	1	0	SYCP2	57929897	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.156000	0.64905	2.515000	0.84797	0.467000	0.42956	GAA	.	.		0.284	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
CDH26	60437	hgsc.bcm.edu	37	20	58569360	58569360	+	Silent	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr20:58569360T>C	ENST00000244047.5	+	11	1793	c.1482T>C	c.(1480-1482)aaT>aaC	p.N494N	CDH26_ENST00000348616.4_Silent_p.N494N|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000350849.6_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	494	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CTGACATCAATGACAACGTCC	0.567																																					p.N494N		Atlas-SNP	.											CDH26_ENST00000244047,caecum,carcinoma,0,2	CDH26	229	.	0			c.T1482C						.						103.0	88.0	93.0					20																	58569360		2203	4300	6503	SO:0001819	synonymous_variant	60437	exon11			CATCAATGACAAC	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1482T>C	chr20.hg19:g.58569360T>C		92.0	0.0		94.0	45.0	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	hg19		.	.	.	.	.	.	.	.	.	.	T	5.229	0.227807	0.09916	.	.	ENSG00000124215	ENST00000370991	.	.	.	4.57	-2.33	0.06724	.	.	.	.	.	T	0.54565	0.1866	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.48352	-0.9043	4	.	.	.	.	9.911	0.41406	0.0:0.4504:0.0:0.5496	.	.	.	.	T	86	.	.	M	+	2	0	CDH26	58002755	0.731000	0.28111	0.002000	0.10522	0.609000	0.37215	-0.164000	0.09983	-0.887000	0.03961	-0.256000	0.11100	ATG	.	.		0.567	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980	
STMN3	50861	hgsc.bcm.edu	37	20	62273597	62273597	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr20:62273597T>C	ENST00000370053.1	-	4	428	c.347A>G	c.(346-348)gAg>gGg	p.E116G	STMN3_ENST00000540534.1_Missense_Mutation_p.E105G	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	116	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GTGCAGCACCTCGCGCTCGTG	0.682																																					p.E116G		Atlas-SNP	.											.	STMN3	19	.	0			c.A347G						.						28.0	25.0	26.0					20																	62273597		2200	4300	6500	SO:0001583	missense	50861	exon4			AGCACCTCGCGCT	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.347A>G	chr20.hg19:g.62273597T>C	ENSP00000359070:p.Glu116Gly	116.0	0.0		88.0	33.0	NM_015894	B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	ENST00000370053.1	hg19	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	t	16.42	3.117392	0.56505	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.14	5.14	0.70334	.	0.281959	0.27586	U	0.018701	T	0.62405	0.2425	M	0.85630	2.765	0.58432	D	0.999995	P	0.46512	0.879	B	0.38985	0.287	T	0.72754	-0.4198	9	0.87932	D	0	-14.434	14.9715	0.71238	0.0:0.0:0.0:1.0	.	116	Q9NZ72	STMN3_HUMAN	G	116;105	.	ENSP00000359070:E116G	E	-	2	0	STMN3	61744041	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	5.970000	0.70431	1.945000	0.56424	0.393000	0.25936	GAG	.	.		0.682	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894	
ICOSLG	23308	hgsc.bcm.edu	37	21	45655360	45655360	+	Silent	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr21:45655360G>A	ENST00000407780.3	-	4	619	c.492C>T	c.(490-492)taC>taT	p.Y164Y	ICOSLG_ENST00000344330.4_Silent_p.Y164Y|ICOSLG_ENST00000400379.3_Silent_p.Y164Y|ICOSLG_ENST00000400377.3_Silent_p.Y47Y	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	164	Ig-like C2-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGGGCCTGGGGTAGCCGTTTA	0.582																																					p.Y164Y		Atlas-SNP	.											.	ICOSLG	20	.	0			c.C492T						.						91.0	97.0	95.0					21																	45655360		2160	4271	6431	SO:0001819	synonymous_variant	23308	exon4			CCTGGGGTAGCCG	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.492C>T	chr21.hg19:g.45655360G>A		113.0	0.0		64.0	43.0	NM_015259	A8MUZ1|Q9HD18|Q9NRQ1	Silent	SNP	ENST00000407780.3	hg19	CCDS42952.1																																																																																			.	.		0.582	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259	
POTEH	23784	hgsc.bcm.edu	37	22	16287870	16287870	+	Missense_Mutation	SNP	C	C	T	rs368142357		TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr22:16287870C>T	ENST00000343518.6	-	1	67	c.16G>A	c.(16-18)Ggt>Agt	p.G6S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	6										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GGCATTGAACCAGCCTCAGCC	0.587																																					p.G6S		Atlas-SNP	.											.	POTEH	114	.	0			c.G16A						.	C	SER/GLY	0,3920		0,0,1960	50.0	61.0	57.0		16	-0.9	0.0	22		57	1,7537		0,1,3768	no	missense	POTEH	NM_001136213.1	56	0,1,5728	TT,TC,CC		0.0133,0.0,0.0087	benign	6/546	16287870	1,11457	1960	3769	5729	SO:0001583	missense	23784	exon1			TTGAACCAGCCTC	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.16G>A	chr22.hg19:g.16287870C>T	ENSP00000340610:p.Gly6Ser	682.0	0.0		633.0	178.0	NM_001136213	A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	hg19	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.614322	0.00120	0.0	1.33E-4	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.23552	1.9	0.462	-0.925	0.10458	.	.	.	.	.	T	0.06735	0.0172	N	0.01874	-0.695	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.32666	-0.9898	8	0.08837	T	0.75	.	.	.	.	.	6	Q6S545	POTEH_HUMAN	S	6	ENSP00000340610:G6S	ENSP00000340610:G6S	G	-	1	0	POTEH	14667870	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.610000	0.05629	-0.950000	0.03659	-1.064000	0.02280	GGT	.	.		0.587	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213	
CPXCR1	53336	hgsc.bcm.edu	37	X	88008450	88008450	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chrX:88008450C>T	ENST00000276127.4	+	3	294	c.35C>T	c.(34-36)gCt>gTt	p.A12V	CPXCR1_ENST00000373111.1_Missense_Mutation_p.A12V	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	12							metal ion binding (GO:0046872)	p.A12V(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGTGATACAGCTGGAAATGCT	0.353																																					p.A12V		Atlas-SNP	.											.	CPXCR1	83	.	1	Substitution - Missense(1)	large_intestine(1)	c.C35T						.						27.0	24.0	25.0					X																	88008450		2202	4297	6499	SO:0001583	missense	53336	exon3			ATACAGCTGGAAA	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.35C>T	chrX.hg19:g.88008450C>T	ENSP00000276127:p.Ala12Val	309.0	0.0		229.0	197.0	NM_001184771	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	hg19	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018624	0.19355	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.29397	1.57;1.57	3.28	-0.711	0.11230	.	0.972892	0.08355	N	0.958693	T	0.15565	0.0375	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.18561	0.022	T	0.31110	-0.9955	9	.	.	.	.	0.5159	0.00603	0.1986:0.358:0.1916:0.2518	.	12	Q8N123	CPXCR_HUMAN	V	12	ENSP00000276127:A12V;ENSP00000362203:A12V	.	A	+	2	0	CPXCR1	87895106	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.152000	0.16302	-0.303000	0.08856	-1.057000	0.02308	GCT	.	.		0.353	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048	
PLS3	5358	hgsc.bcm.edu	37	X	114863611	114863611	+	Silent	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chrX:114863611C>T	ENST00000420625.2	+	4	473	c.339C>T	c.(337-339)tcC>tcT	p.S113S	PLS3_ENST00000289290.3_Silent_p.S68S|PLS3_ENST00000537301.1_Silent_p.S91S|PLS3_ENST00000539310.1_Silent_p.S68S|PLS3_ENST00000355899.3_Silent_p.S113S	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	113	Actin-binding 1.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CAGAGTTGTCCAGCGAAGGAA	0.418																																					p.S113S	Colon(160;1047 1864 8490 12969 29601)	Atlas-SNP	.											.	PLS3	60	.	0			c.C339T						.						132.0	116.0	121.0					X																	114863611		2203	4300	6503	SO:0001819	synonymous_variant	5358	exon4			GTTGTCCAGCGAA	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.339C>T	chrX.hg19:g.114863611C>T		278.0	0.0		272.0	229.0	NM_005032	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Silent	SNP	ENST00000420625.2	hg19	CCDS14568.1																																																																																			.	.		0.418	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2		
GPR112	139378	hgsc.bcm.edu	37	X	135443733	135443733	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chrX:135443733G>T	ENST00000394143.1	+	12	7555	c.7264G>T	c.(7264-7266)Gcc>Tcc	p.A2422S	GPR112_ENST00000370652.1_Missense_Mutation_p.A2422S|GPR112_ENST00000394141.1_Missense_Mutation_p.A2217S|GPR112_ENST00000412101.1_Missense_Mutation_p.A2217S|GPR112_ENST00000287534.4_Missense_Mutation_p.A2220S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2422					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGATGGAAATGCCACAAGATT	0.403																																					p.A2422S		Atlas-SNP	.											.	GPR112	459	.	0			c.G7264T						.						154.0	113.0	127.0					X																	135443733		2203	4300	6503	SO:0001583	missense	139378	exon12			GGAAATGCCACAA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7264G>T	chrX.hg19:g.135443733G>T	ENSP00000377699:p.Ala2422Ser	218.0	0.0		222.0	179.0	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	hg19	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349632	0.82132	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.46063	0.93;0.93;0.88;1.01;0.88	5.79	5.79	0.91817	.	.	.	.	.	T	0.54598	0.1868	L	0.34521	1.04	0.26112	N	0.980672	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.87578	0.998;0.981;0.975	T	0.50759	-0.8790	9	0.59425	D	0.04	.	14.244	0.65975	0.0:0.0:1.0:0.0	.	2220;2217;2422	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	2422;2422;2217;2220;2217	ENSP00000377699:A2422S;ENSP00000359686:A2422S;ENSP00000416526:A2217S;ENSP00000287534:A2220S;ENSP00000377697:A2217S	ENSP00000287534:A2220S	A	+	1	0	GPR112	135271399	0.994000	0.37717	0.444000	0.26895	0.936000	0.57629	3.168000	0.50801	2.438000	0.82558	0.600000	0.82982	GCC	.	.		0.403	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
DUSP9	1852	hgsc.bcm.edu	37	X	152915517	152915517	+	Silent	SNP	C	C	T			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chrX:152915517C>T	ENST00000342782.3	+	4	1177	c.912C>T	c.(910-912)taC>taT	p.Y304Y	DUSP9_ENST00000370167.4_Silent_p.Y304Y			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	304	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGGCCTACCTCATGCAGA	0.567																																					p.Y304Y		Atlas-SNP	.											.	DUSP9	41	.	0			c.C912T						.						271.0	232.0	245.0					X																	152915517		2203	4300	6503	SO:0001819	synonymous_variant	1852	exon4			GGCCTACCTCATG	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.912C>T	chrX.hg19:g.152915517C>T		84.0	0.0		83.0	63.0	NM_001395	D3DWU5	Silent	SNP	ENST00000342782.3	hg19	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.310324	0.23821	.	.	ENSG00000130829	ENST00000433144	.	.	.	4.83	2.98	0.34508	.	.	.	.	.	T	0.56731	0.2005	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51980	-0.8636	4	.	.	.	.	8.1857	0.31337	0.1562:0.7547:0.0:0.0892	.	.	.	.	I	275	.	.	T	+	2	0	DUSP9	152568711	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.526000	0.45607	1.009000	0.39289	0.529000	0.55759	ACC	.	.		0.567	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395	
MT-CYB	4519	hgsc.bcm.edu	37	M	15500	15500	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chrM:15500G>A	ENST00000361789.2	+	1	754	c.754G>A	c.(754-756)Gac>Aac	p.D252N	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	252			Missing (in mitochondrial myopathy; sporadic). {ECO:0000269|PubMed:10502593}.		cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						ACCTCCTAGGCGACCCAGACA	0.483											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.D252N		Atlas-SNP	.											.	.	.	.	0			c.G754A						.																																			SO:0001583	missense	0	exon1			CTAGGCGACCCAG			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.754G>A	chrM.hg19:g.15500G>A	ENSP00000354554:p.Asp252Asn	26.0	0.0	585	64.0	17.0	ENST00000361789	Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	hg19																																																																																				.	.		0.483	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038	
FAM120C	54954	hgsc.bcm.edu	37	X	54185860	54185862	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chrX:54185860_54185862delCTT	ENST00000375180.2	-	2	943_945	c.887_889delAAG	c.(886-891)gaagta>gta	p.E296del	FAM120C_ENST00000328235.4_In_Frame_Del_p.E296del	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	296							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGCTTGGCTACTTCTTGCATCAG	0.463																																					p.296_297del		Atlas-INDEL	.											.	FAM120C	89	.	0			c.888_890del						.																																			SO:0001651	inframe_deletion	54954	exon2			.	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.887_889delAAG	chrX.hg19:g.54185863_54185865delCTT	ENSP00000364324:p.Glu296del	152.0	0.0		127.0	97.0	NM_017848	B2RMT7	In_Frame_Del	DEL	ENST00000375180.2	hg19	CCDS14356.1																																																																																			.	.		0.463	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848	
ZNF627	199692	hgsc.bcm.edu	37	19	11728647	11728656	+	Frame_Shift_Del	DEL	AGAGAAACCC	AGAGAAACCC	-	rs573622915|rs190861488	byFrequency	TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	AGAGAAACCC	AGAGAAACCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr19:11728647_11728656delAGAGAAACCC	ENST00000361113.5	+	4	1537_1546	c.1329_1338delAGAGAAACCC	c.(1327-1338)ggagagaaacccfs	p.GEKP443fs	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P446P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTCATACTGGAGAGAAACCCTATGAGAACC	0.41																																					p.443_446del	Melanoma(112;173 1614 10731 17751 23322)	Atlas-INDEL	.											.	ZNF627	43	.	1	Substitution - coding silent(1)	prostate(1)	c.1328_1337del						.																																			SO:0001589	frameshift_variant	199692	exon4			.	AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.1329_1338delAGAGAAACCC	chr19.hg19:g.11728647_11728656delAGAGAAACCC	ENSP00000354414:p.Gly443fs	29.0	0.0		27.0	13.0	NM_145295	O14846|Q4KMP9|Q6NT81|Q9BRG4	Frame_Shift_Del	DEL	ENST00000361113.5	hg19	CCDS42502.1																																																																																			.	.		0.410	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295	
FMO3	2328	hgsc.bcm.edu	37	1	171076962	171076962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr1:171076962delA	ENST00000367755.4	+	4	579	c.468delA	c.(466-468)ccafs	p.P156fs	FMO3_ENST00000392085.2_Frame_Shift_Del_p.P156fs|FMO3_ENST00000542847.1_Frame_Shift_Del_p.P136fs|FMO3_ENST00000538429.1_Frame_Shift_Del_p.P93fs	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	156					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CCAACCTACCAAAAGAGTCCT	0.388																																					p.P156fs		Atlas-INDEL	.											.	FMO3	73	.	0			c.467delC						.						125.0	129.0	127.0					1																	171076962		2203	4300	6503	SO:0001589	frameshift_variant	2328	exon4			.	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.468delA	chr1.hg19:g.171076962delA	ENSP00000356729:p.Pro156fs	154.0	0.0		143.0	53.0	NM_001002294	B2R816|Q14854|Q8N5N5	Frame_Shift_Del	DEL	ENST00000367755.4	hg19	CCDS1292.1																																																																																			.	.		0.388	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
VAMP1	6843	hgsc.bcm.edu	37	12	6574098	6574099	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr12:6574098_6574099insGA	ENST00000396308.3	-	4	442_443	c.297_298insTC	c.(295-300)atcatgfs	p.M100fs	VAMP1_ENST00000535180.1_Frame_Shift_Ins_p.M100fs|VAMP1_ENST00000400911.3_Frame_Shift_Ins_p.M100fs|VAMP1_ENST00000361716.3_Frame_Shift_Ins_p.M100fs|VAMP1_ENST00000544432.1_5'UTR|TAPBPL_ENST00000545700.1_Intron	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	100					neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GCTCCCAGCATGATCATCATCT	0.465																																					p.M100fs		Atlas-INDEL	.											.	VAMP1	6	.	0			c.298_299insTC						.																																			SO:0001589	frameshift_variant	6843	exon4			.		CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"""Vesicle-associated membrane proteins"""	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.296_297dupTC	chr12.hg19:g.6574099_6574100dupGA	ENSP00000379602:p.Met100fs	78.0	0.0		63.0	16.0	NM_016830	A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Frame_Shift_Ins	INS	ENST00000396308.3	hg19	CCDS41740.1																																																																																			.	.		0.465	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1		
MTMR6	9107	hgsc.bcm.edu	37	13	25823497	25823498	+	In_Frame_Ins	INS	-	-	TTA			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr13:25823497_25823498insTTA	ENST00000381801.5	-	14	2499_2500	c.1738_1739insTAA	c.(1738-1740)gat>gTAAat	p.580_580D>VN	AL590787.1_ENST00000408397.1_RNA|MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	580					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCGAAGAGCATCATTTACGGGT	0.436																																					p.D580delinsVN		Atlas-INDEL	.											.	MTMR6	75	.	0			c.1739_1740insTAA						.																																			SO:0001652	inframe_insertion	9107	exon14			.	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1738_1739insTAA	chr13.hg19:g.25823497_25823498insTTA	ENSP00000371221:p.Asp580delinsValAsn	183.0	0.0		137.0	37.0	NM_004685	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	In_Frame_Ins	INS	ENST00000381801.5	hg19	CCDS9313.1																																																																																			.	.		0.436	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685	
MTMR6	9107	hgsc.bcm.edu	37	13	25823489	25823492	+	Frame_Shift_Del	DEL	GAAG	GAAG	-			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	GAAG	GAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr13:25823489_25823492delGAAG	ENST00000381801.5	-	14	2505_2508	c.1744_1747delCTTC	c.(1744-1749)cttcgafs	p.LR582fs	AL590787.1_ENST00000408397.1_RNA|MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	582					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCTATAGTTCGAAGAGCATCATTT	0.431																																					p.582_583del		Atlas-INDEL	.											MTMR6,colon,carcinoma,0,1	MTMR6	75	.	0			c.1745_1748del						.																																			SO:0001589	frameshift_variant	9107	exon14			.	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1744_1747delCTTC	chr13.hg19:g.25823489_25823492delGAAG	ENSP00000371221:p.Leu582fs	178.0	0.0		135.0	36.0	NM_004685	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Frame_Shift_Del	DEL	ENST00000381801.5	hg19	CCDS9313.1																																																																																			.	.		0.431	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685	
ALB	213	hgsc.bcm.edu	37	4	74281992	74281992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr4:74281992delT	ENST00000503124.1	+	8	968	c.761delT	c.(760-762)cttfs	p.L254fs	ALB_ENST00000401494.3_Frame_Shift_Del_p.L289fs|ALB_ENST00000509063.1_Frame_Shift_Del_p.L404fs|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Frame_Shift_Del_p.L212fs|ALB_ENST00000295897.4_Frame_Shift_Del_p.L404fs			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTAAACCTCTTGTGGAAGAG	0.358																																					p.L404fs		Atlas-INDEL	.											.	ALB	132	.	0			c.1210delC						.						72.0	72.0	72.0					4																	74281992		2201	4300	6501	SO:0001589	frameshift_variant	213	exon10			.	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.761delT	chr4.hg19:g.74281992delT	ENSP00000421027:p.Leu254fs	350.0	0.0		335.0	150.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Frame_Shift_Del	DEL	ENST00000503124.1	hg19																																																																																				.	.		0.358	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
ESRP2	80004	hgsc.bcm.edu	37	16	68265386	68265401	+	Splice_Site	DEL	TGCTGGTTGAGCACCA	TGCTGGTTGAGCACCA	-			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	TGCTGGTTGAGCACCA	TGCTGGTTGAGCACCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr16:68265386_68265401delTGCTGGTTGAGCACCA	ENST00000565858.1	-	11	1612_1627	c.1526_1541delTGGTGCTCAACCAGCA	c.(1525-1542)atggtgctcaaccagcag>ag	p.MVLNQQ509fs	ESRP2_ENST00000473183.2_Splice_Site_p.MVLNQQ499fs|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	509	RRM 3.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TGGCTTCACCTGCTGGTTGAGCACCATGTGTACACC	0.551																																					p.499_504del		Atlas-INDEL	.											.	ESRP2	118	.	0			c.1497_1512del						.																																			SO:0001630	splice_region_variant	80004	exon11			.	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1542+1TGGTGCTCAACCAGCA>-	chr16.hg19:g.68265386_68265401delTGCTGGTTGAGCACCA		83.0	0.0		65.0	17.0	NM_024939	Q8N6H8|Q8WZ15|Q9H6I4	Frame_Shift_Del	DEL	ENST00000565858.1	hg19																																																																																				.	.		0.551	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939	Frame_Shift_Del
DDX11	1663	hgsc.bcm.edu	37	12	31253960	31253961	+	Splice_Site	INS	-	-	A			TCGA-DD-AADQ-01A-11D-A40R-10	TCGA-DD-AADQ-10A-01D-A40U-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a9ad3707-975a-4455-a65c-976f9cc645ad	f1879db2-297f-44d1-b52f-3cbf282a8ecd	g.chr12:31253960_31253961insA	ENST00000407793.2	+	20	2199_2200		c.e20-1		DDX11_ENST00000228264.6_Splice_Site|DDX11_ENST00000545668.1_Splice_Site|DDX11_ENST00000350437.4_Splice_Site|DDX11_ENST00000251758.5_Splice_Site|DDX11_ENST00000542838.1_Splice_Site	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTCTTACCAGGTCACGTGATC	0.579										Multiple Myeloma(12;0.14)																											.		Atlas-INDEL	.											.	DDX11	188	.	0			c.1949-1->A						.																																			SO:0001630	splice_region_variant	1663	exon20			.	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1949-1->A	chr12.hg19:g.31253960_31253961insA		87.0	0.0		59.0	13.0	NM_152438	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	INS	ENST00000407793.2	hg19	CCDS44856.1																																																																																			.	.		0.579	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	Intron
