#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
KDM5A	5927	genome.wustl.edu	37	12	438006	438006	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr12:438006G>C	ENST00000399788.2	-	14	2325	c.1963C>G	c.(1963-1965)Cag>Gag	p.Q655E	KDM5A_ENST00000382815.4_Missense_Mutation_p.Q655E	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	655					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTCACCATCTGTACAACAGAC	0.413			T	NUP98	AML																																		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0			12											89.0	86.0	87.0					12																	438006		1942	4150	6092	308267	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1963C>G	12.37:g.438006G>C	ENSP00000382688:p.Gln655Glu		308267	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	HMMSmart_SM00545,HMMSmart_SM00501,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMSmart_SM00558	p.Q655E	ENST00000399788.2	37	c.1963	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	1.527	-0.545250	0.04024	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	D;D;T	0.83506	-1.73;-1.54;-1.39	4.8	3.9	0.45041	.	0.241593	0.42682	D	0.000661	T	0.65954	0.2741	N	0.12182	0.205	0.39922	D	0.974174	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.10450	0.001;0.001;0.002;0.005	T	0.60677	-0.7216	10	0.02654	T	1	-4.0733	14.5766	0.68252	0.0:0.0:0.8525:0.1475	.	274;655;655;655	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	E	274;614;655;655;274	ENSP00000382688:Q655E;ENSP00000372265:Q655E;ENSP00000440622:Q274E	ENSP00000261253:Q274E	Q	-	1	0	KDM5A	308267	1.000000	0.71417	0.856000	0.33681	0.982000	0.71751	4.811000	0.62606	1.123000	0.41961	0.462000	0.41574	CAG	-	NULL		0.413	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JARID1A	protein_coding	OTTHUMT00000397812.1	G	NM_005056		308267	-1	no_errors	NM_001042603	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
OR51B5	282763	genome.wustl.edu	37	11	5364098	5364098	+	Silent	SNP	T	T	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr11:5364098T>A	ENST00000300773.2	-	1	711	c.657A>T	c.(655-657)atA>atT	p.I219I	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	219					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTCTTGAGTATCAACACAT	0.463																																																0			11											112.0	110.0	111.0					11																	5364098		2201	4297	6498	5320674	SO:0001819	synonymous_variant	282763			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.657A>T	11.37:g.5364098T>A			5320674	B2RN59	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.I219	ENST00000300773.2	37	c.657	CCDS31378.1	11																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.463	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B5	protein_coding	OTTHUMT00000142975.1	T	NM_001005567		5320674	-1	no_errors	NM_001005567	genbank	human	provisional	54_36p	silent	SNP	0.002	A
KAL1	3730	genome.wustl.edu	37	X	8522030	8522030	+	Silent	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chrX:8522030G>T	ENST00000262648.3	-	9	1466	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	439	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTTGCAGTTGGCCATCCTGAT	0.408																																																0			X											124.0	108.0	114.0					X																	8522030		2203	4300	6503	8482030	SO:0001819	synonymous_variant	3730				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1317C>A	X.37:g.8522030G>T			8482030	B2RPF8	Silent	SNP	superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP,PatternScan_4_DISULFIDE_CORE,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3	p.G439	ENST00000262648.3	37	c.1317	CCDS14130.1	X																																																																																			-	HMMSmart_FN3		0.408	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	protein_coding	OTTHUMT00000055692.1	G	NM_000216		8482030	-1	no_errors	NM_000216	genbank	human	reviewed	54_36p	silent	SNP	0.289	T
PAK7	57144	genome.wustl.edu	37	20	9523271	9523271	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr20:9523271G>A	ENST00000378429.3	-	10	2512	c.1966C>T	c.(1966-1968)Cgg>Tgg	p.R656W	PAK7_ENST00000353224.5_Missense_Mutation_p.R656W|PAK7_ENST00000378423.1_Missense_Mutation_p.R656W	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAACTGTCCCGGATCCTCCGC	0.502																																																0			20											145.0	145.0	145.0					20																	9523271		2203	4300	6503	9471271	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1966C>T	20.37:g.9523271G>A	ENSP00000367686:p.Arg656Trp		9471271	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ST,HMMPfam_PBD,HMMSmart_PBD,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP	p.R656W	ENST00000378429.3	37	c.1966	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345601	0.82022	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	T;T;T	0.67523	-0.27;-0.27;-0.27	5.48	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78368	0.4272	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78265	-0.2271	9	.	.	.	.	13.4971	0.61432	0.0:0.0:0.7157:0.2843	.	656	Q9P286	PAK7_HUMAN	W	656	ENSP00000367686:R656W;ENSP00000322957:R656W;ENSP00000367679:R656W	.	R	-	1	2	PAK7	9471271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.547000	0.67249	1.329000	0.45376	-0.152000	0.13540	CGG	-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.502	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	protein_coding	OTTHUMT00000077962.1	G			9471271	-1	no_errors	NM_020341	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MYH2	4620	genome.wustl.edu	37	17	10424610	10424610	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr17:10424610A>T	ENST00000245503.5	-	40	6197	c.5813T>A	c.(5812-5814)aTa>aAa	p.I1938K	CTC-297N7.11_ENST00000587182.2_RNA|MYH1_ENST00000226207.5_5'Flank|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.I1938K|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.I705K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1938					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCTTCACTTATGACTTTTGT	0.483																																																0			17											203.0	191.0	195.0					17																	10424610		2203	4300	6503	10365335	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5813T>A	17.37:g.10424610A>T	ENSP00000245503:p.Ile1938Lys		10365335	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1	p.I1938K	ENST00000245503.5	37	c.5813	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	A	12.00	1.808080	0.31961	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.78003	2.3;-1.14;-1.14	5.55	5.55	0.83447	.	0.425407	0.17542	U	0.170483	T	0.55593	0.1930	N	0.11560	0.145	0.40849	D	0.983737	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52343	-0.8588	10	0.06365	T	0.9	.	10.2209	0.43196	0.9268:0.0:0.0732:0.0	.	705;1938	Q567P6;Q9UKX2	.;MYH2_HUMAN	K	705;1938;1938	ENSP00000433944:I705K;ENSP00000245503:I1938K;ENSP00000380367:I1938K	ENSP00000245503:I1938K	I	-	2	0	MYH2	10365335	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.059000	0.49947	2.333000	0.79357	0.482000	0.46254	ATA	-	NULL		0.483	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	A	NM_017534		10365335	-1	no_errors	NM_001100112	genbank	human	validated	54_36p	missense	SNP	0.776	T
DNAH9	1770	genome.wustl.edu	37	17	11757664	11757664	+	Silent	SNP	C	C	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr17:11757664C>A	ENST00000262442.4	+	50	9920	c.9852C>A	c.(9850-9852)ccC>ccA	p.P3284P	DNAH9_ENST00000454412.2_Silent_p.P3284P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3284	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGTGGAACCCAAGCGCCAGG	0.557																																																0			17											79.0	81.0	81.0					17																	11757664		2203	4300	6503	11698389	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9852C>A	17.37:g.11757664C>A			11698389	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2	p.P3284	ENST00000262442.4	37	c.9852	CCDS11160.1	17																																																																																			-	NULL		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11698389	+1	no_errors	NM_001372	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
PLA2G2C	391013	genome.wustl.edu	37	1	20499308	20499308	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr1:20499308T>G	ENST00000429261.2	-	3	322	c.262A>C	c.(262-264)Atc>Ctc	p.I88L	PLA2G2C_ENST00000495760.2_Intron|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.I89L			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	88					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATTGACGATGTGGAACTGG	0.517																																																0			1											71.0	72.0	72.0					1																	20499308		1973	4166	6139	20371895	SO:0001583	missense	391013					1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"""phospholipase A2, group IIC (possible pseudogene)"""			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.262A>C	1.37:g.20499308T>G	ENSP00000389335:p.Ile88Leu		20371895	Q7M4M6	Missense_Mutation	SNP	PatternScan_PA2_HIS,HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2,PatternScan_PA2_ASP	p.I89L	ENST00000429261.2	37	c.265		1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397321	0.04899	.	.	ENSG00000187980	ENST00000429261;ENST00000247992	T;D	0.81821	1.78;-1.54	5.06	-5.24	0.02789	Phospholipase A2 (3);	0.951984	0.08696	N	0.907207	T	0.63295	0.2499	L	0.31065	0.9	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.48559	-0.9025	10	0.14656	T	0.56	.	8.0227	0.30419	0.0:0.4748:0.3218:0.2035	.	88	Q5R387	PA2GC_HUMAN	L	88;89	ENSP00000389335:I88L;ENSP00000247992:I89L	ENSP00000247992:I89L	I	-	1	0	PLA2G2C	20371895	0.000000	0.05858	0.002000	0.10522	0.207000	0.24258	-0.950000	0.03889	-0.796000	0.04456	-0.250000	0.11733	ATC	-	HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2		0.517	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	PLA2G2C	protein_coding	OTTHUMT00000007689.3	T	NM_001105572		20371895	-1	no_errors	NM_001105572	genbank	human	inferred	54_36p	missense	SNP	0.009	G
CHEK2	11200	genome.wustl.edu	37	22	29083975	29083975	+	Splice_Site	SNP	C	C	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr22:29083975C>A	ENST00000405598.1	-	16	1734		c.e16-1		CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000348295.3_Splice_Site|CHEK2_ENST00000402731.1_Splice_Site|CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000404276.1_Splice_Site|CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000544772.1_Splice_Site|CHEK2_ENST00000382566.1_Splice_Site|CHEK2_ENST00000382565.1_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site			O96017	CHK2_HUMAN	checkpoint kinase 2						cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TAGTAGAAGGCTGAAAATAAA	0.473			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0			22											23.0	26.0	25.0					22																	29083975		1346	2288	3634	27413975	SO:0001630	splice_region_variant	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1543-1G>T	22.37:g.29083975C>A			27413975	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Splice_Site	SNP	-	e15-1	ENST00000405598.1	37	c.1672-1	CCDS13843.1	22	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508870	0.64410	.	.	ENSG00000183765	ENST00000434810;ENST00000456369;ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6477	0.62292	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHEK2	27413975	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.599000	0.54045	2.351000	0.79841	0.557000	0.71058	.	-	-		0.473	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	protein_coding	OTTHUMT00000321150.1	C	NM_001005735	Intron	27413975	-1	no_errors	NM_001005735	genbank	human	reviewed	54_36p	splice_site	SNP	0.992	A
TRNAU1AP	54952	genome.wustl.edu	37	1	28904992	28904992	+	3'UTR	SNP	T	T	C			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr1:28904992T>C	ENST00000373830.3	+	0	1734				SNHG12_ENST00000483436.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000384581.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						GGGAGATGGATTGCTTGAGCT	0.388																																																0			1																																								28777579	SO:0001624	3_prime_UTR_variant	54952				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.*844T>C	1.37:g.28904992T>C			28777579	Q86SU7	RNA	SNP	-	NULL	ENST00000373830.3	37	NULL	CCDS324.1	1																																																																																			-	-		0.388	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	protein_coding	OTTHUMT00000010346.1	T	NM_017846		28777579	+1	no_errors	NR_003109	genbank	human	validated	54_36p	rna	SNP	0.000	C
RRN3P2	653390	genome.wustl.edu	37	16	29095798	29095798	+	RNA	SNP	G	G	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr16:29095798G>A	ENST00000564580.1	+	0	344							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		CTAGAATTCCGTTCTTCTATC	0.323																																																0			16																																								29003299			0					16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29095798G>A			29003299		Missense_Mutation	SNP	NULL	p.R164H	ENST00000564580.1	37	c.491		16	.	.	.	.	.	.	.	.	.	.	g	16.15	3.040862	0.55003	.	.	ENSG00000103472	ENST00000415221;ENST00000219758	.	.	.	1.88	1.88	0.25563	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	.	.	.	.	.	.	.	.	.	.	.	.	T	0.66444	-0.5922	5	0.48119	T	0.1	.	9.8133	0.40838	0.0:0.0:1.0:0.0	.	.	.	.	H	96	.	ENSP00000219758:R96H	R	+	2	0	AC009093.1	29003299	0.998000	0.40836	0.998000	0.56505	0.955000	0.61496	3.981000	0.56902	1.365000	0.46057	0.531000	0.56144	CGT	-	NULL		0.323	RRN3P2-001	KNOWN	basic	processed_transcript	ENSG00000172533	pseudogene	OTTHUMT00000433243.1	G	NR_003369		29003299	+1	no_start_codon:no_stop_codon	ENST00000327307	ensembl	human	known	54_36p	missense	SNP	0.991	A
KIF13B	23303	genome.wustl.edu	37	8	29039455	29039455	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr8:29039455A>T	ENST00000524189.1	-	7	604	c.566T>A	c.(565-567)cTg>cAg	p.L189Q	KIF13B_ENST00000521515.1_Missense_Mutation_p.L189Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	189	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGTGACAGCCAGTTTAGAAAG	0.373																																																0			8											122.0	116.0	118.0					8																	29039455		1850	4097	5947	29095374	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.566T>A	8.37:g.29039455A>T	ENSP00000427900:p.Leu189Gln		29095374	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMPfam_FHA,superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1	p.L189Q	ENST00000524189.1	37	c.566	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363979	0.82353	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	D;D	0.88818	-2.43;-2.43	5.42	5.42	0.78866	Kinesin, motor domain (4);	0.069789	0.64402	D	0.000016	D	0.92818	0.7716	L	0.53249	1.67	0.80722	D	1	D;D;P	0.89917	0.998;1.0;0.935	D;D;P	0.78314	0.947;0.991;0.658	D	0.93548	0.6884	10	0.87932	D	0	.	15.6246	0.76845	1.0:0.0:0.0:0.0	.	175;189;189	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	Q	189	ENSP00000427900:L189Q;ENSP00000429201:L189Q	ENSP00000429201:L189Q	L	-	2	0	KIF13B	29095374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.761000	0.91691	2.272000	0.75746	0.460000	0.39030	CTG	-	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin		0.373	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	protein_coding	OTTHUMT00000376878.1	A			29095374	-1	no_errors	NM_015254	genbank	human	validated	54_36p	missense	SNP	1.000	T
TAF1L	138474	genome.wustl.edu	37	9	32633772	32633772	+	Silent	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr9:32633772G>T	ENST00000242310.4	-	1	1895	c.1806C>A	c.(1804-1806)acC>acA	p.T602T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	602					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCTCCAAAGGTGCCCCGAA	0.483																																																0			9											145.0	153.0	151.0					9																	32633772		2203	4300	6503	32623772	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1806C>A	9.37:g.32633772G>T			32623772	Q0VG57	Silent	SNP	HMMPfam_TBP-binding,superfamily_TAF_II_230,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.T602	ENST00000242310.4	37	c.1806	CCDS35003.1	9																																																																																			-	NULL		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G			32623772	-1	no_errors	NM_153809	genbank	human	provisional	54_36p	silent	SNP	0.992	T
CDK13	8621	genome.wustl.edu	37	7	40127931	40127931	+	Splice_Site	SNP	G	G	C			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr7:40127931G>C	ENST00000181839.4	+	12	3840		c.e12+1		CDK13_ENST00000340829.5_Splice_Site	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13						alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GTGGCACCTGGTCAGTAATGC	0.448																																																0			7											59.0	50.0	53.0					7																	40127931		2203	4300	6503	40094456	SO:0001630	splice_region_variant	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3235+1G>C	7.37:g.40127931G>C			40094456	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Splice_Site	SNP	-	e12+1	ENST00000181839.4	37	c.3235+1	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210882	0.79240	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5332	0.95237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK13	40094456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.213000	0.89758	2.779000	0.95612	0.650000	0.86243	.	-	-		0.448	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC2L5	protein_coding	OTTHUMT00000250726.2	G	NM_003718	Intron	40094456	+1	no_errors	NM_003718	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	C
SLC38A5	92745	genome.wustl.edu	37	X	48317932	48317932	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chrX:48317932G>A	ENST00000376876.3	-	15	2150	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.P385L|SLC38A5_ENST00000317669.5_Missense_Mutation_p.P436L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	436					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CTGGATCTTGGGCCAGGATAA	0.582																																																0			X											47.0	39.0	42.0					X																	48317932		2199	4298	6497	48202876	SO:0001583	missense	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1307C>T	X.37:g.48317932G>A	ENSP00000366073:p.Pro436Leu		48202876	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	HMMPfam_Aa_trans	p.P436L	ENST00000376876.3	37	c.1307	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	g	18.48	3.633913	0.67130	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02395	4.31;4.31;4.31	5.28	4.4	0.53042	.	0.165521	0.53938	D	0.000044	T	0.15176	0.0366	M	0.87038	2.855	0.80722	D	1	D	0.53151	0.958	P	0.62184	0.899	T	0.00420	-1.1750	10	0.52906	T	0.07	.	12.6635	0.56828	0.0:0.1633:0.8367:0.0	.	436	Q8WUX1	S38A5_HUMAN	L	436;385;436	ENSP00000366073:P436L;ENSP00000366071:P385L;ENSP00000313740:P436L	ENSP00000313740:P436L	P	-	2	0	SLC38A5	48202876	1.000000	0.71417	0.984000	0.44739	0.966000	0.64601	5.237000	0.65360	0.995000	0.38917	0.523000	0.50628	CCC	-	HMMPfam_Aa_trans		0.582	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	protein_coding	OTTHUMT00000060724.1	G	NM_033518		48202876	-1	no_errors	NM_033518	genbank	human	validated	54_36p	missense	SNP	1.000	A
KLK11	11012	genome.wustl.edu	37	19	51527575	51527575	+	Intron	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr19:51527575G>T	ENST00000594768.1	-	4	479				KLK11_ENST00000594458.1_Intron|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000453757.3_Intron|KLK11_ENST00000391804.3_Silent_p.S88S|KLK11_ENST00000319720.7_Intron	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GGCTGAGGTGGGAGAGACAGT	0.592																																																0			19											75.0	88.0	83.0					19																	51527575		2203	4300	6503	56219387	SO:0001627	intron_variant	11012			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.294-9C>A	19.37:g.51527575G>T			56219387	O75837|Q0WXX5|Q8IXD7|Q9NS65	Silent	SNP	superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.S88	ENST00000594768.1	37	c.264	CCDS12818.1	19																																																																																			-	superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin		0.592	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	protein_coding	OTTHUMT00000464314.2	G	NM_006853		56219387	-1	no_errors	ENST00000391804	ensembl	human	known	54_36p	silent	SNP	0.065	T
LILRB4	11006	genome.wustl.edu	37	19	55179377	55179377	+	Missense_Mutation	SNP	T	T	G	rs149600113		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr19:55179377T>G	ENST00000391736.1	+	14	1569	c.1254T>G	c.(1252-1254)ttT>ttG	p.F418L	LILRB4_ENST00000430952.2_Missense_Mutation_p.F417L|LILRB4_ENST00000270452.2_Missense_Mutation_p.F418L|LILRB4_ENST00000391733.3_Missense_Mutation_p.F419L|LILRB4_ENST00000391734.3_Missense_Mutation_p.F365L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	418					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCACAGCTTTACCCTCAGAC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16015	0.0		0.0	False		,,,				2504	0.0															0			19											93.0	97.0	95.0					19																	55179377		2203	4300	6503	59871189	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1254T>G	19.37:g.55179377T>G	ENSP00000375616:p.Phe418Leu		59871189	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_ig	p.F418L	ENST00000391736.1	37	c.1254	CCDS12902.1	19	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.292496	0.01375	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00460	7.32;7.32;7.31;7.27;7.33	2.07	-0.638	0.11500	.	.	.	.	.	T	0.00073	0.0002	N	0.00251	-1.775	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	0.6834	0.00878	0.1703:0.2396:0.3472:0.2428	.	365;419;417;418	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	L	418;418;417;365;419	ENSP00000375616:F418L;ENSP00000270452:F418L;ENSP00000408995:F417L;ENSP00000375614:F365L;ENSP00000375613:F419L	ENSP00000270452:F418L	F	+	3	2	LILRB4	59871189	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.085000	0.14912	-0.134000	0.11516	-0.484000	0.04775	TTT	-	NULL		0.627	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	protein_coding	OTTHUMT00000141127.3	T			59871189	+1	no_errors	NM_006847	genbank	human	reviewed	54_36p	missense	SNP	0.023	G
CHD7	55636	genome.wustl.edu	37	8	61749528	61749528	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr8:61749528G>T	ENST00000423902.2	+	17	4621	c.4142G>T	c.(4141-4143)tGc>tTc	p.C1381F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1381	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTGATACCTGCATCATCTTT	0.433																																																0			8											136.0	137.0	137.0					8																	61749528		2133	4276	6409	61912082	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4142G>T	8.37:g.61749528G>T	ENSP00000392028:p.Cys1381Phe		61912082	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592	p.C1381F	ENST00000423902.2	37	c.4142	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930362	0.92389	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.75477	-0.94	5.93	5.93	0.95920	Helicase, C-terminal (3);	0.054396	0.85682	D	0.000000	D	0.86569	0.5964	M	0.70595	2.14	0.80722	D	1	D	0.54601	0.967	D	0.72625	0.978	D	0.86527	0.1819	10	0.87932	D	0	-12.1848	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1381	Q9P2D1	CHD7_HUMAN	F	1381	ENSP00000392028:C1381F	ENSP00000307304:C1381F	C	+	2	0	CHD7	61912082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	TGC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61912082	+1	no_errors	NM_017780	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZIK1	284307	genome.wustl.edu	37	19	58102040	58102040	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr19:58102040A>T	ENST00000597850.1	+	4	1076	c.861A>T	c.(859-861)agA>agT	p.R287S	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.R232S|ZIK1_ENST00000536878.2_Missense_Mutation_p.R274S	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	287					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCATCGGAGAATCCACACCG	0.453																																																0			19											62.0	63.0	63.0					19																	58102040		2203	4300	6503	62793852	SO:0001583	missense	284307			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.861A>T	19.37:g.58102040A>T	ENSP00000472867:p.Arg287Ser		62793852	O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_Multiheme cytochromes,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers	p.R287S	ENST00000597850.1	37	c.861	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550682	0.65311	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.24151	1.87	3.06	-3.91	0.04168	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34424	0.0897	L	0.53671	1.685	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.982;0.995	T	0.25676	-1.0125	9	0.66056	D	0.02	.	1.3223	0.02118	0.363:0.2261:0.285:0.1259	.	274;287	F5H435;Q3SY52	.;ZIK1_HUMAN	S	274;268;287	ENSP00000438487:R274S	ENSP00000303820:R287S	R	+	3	2	ZIK1	62793852	0.000000	0.05858	0.000000	0.03702	0.757000	0.42996	-0.601000	0.05687	-0.704000	0.05042	0.460000	0.39030	AGA	-	superfamily_Multiheme cytochromes,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.453	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	protein_coding	OTTHUMT00000466791.1	A	NM_001010879		62793852	+1	no_errors	NM_001010879	genbank	human	provisional	54_36p	missense	SNP	0.002	T
ALMS1	7840	genome.wustl.edu	37	2	73678657	73678657	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr2:73678657G>A	ENST00000264448.6	+	8	5111	c.5000G>A	c.(4999-5001)aGg>aAg	p.R1667K	ALMS1_ENST00000377715.1_Missense_Mutation_p.R1667K|ALMS1_ENST00000409009.1_Missense_Mutation_p.R1625K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1667	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TACTCAAATAGGGGGAAGCCT	0.463																																																0			2											91.0	88.0	89.0					2																	73678657		1850	4094	5944	73532165	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5000G>A	2.37:g.73678657G>A	ENSP00000264448:p.Arg1667Lys		73532165	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.R1667K	ENST00000264448.6	37	c.5000	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463298	0.26248	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.13901	3.44;3.44;2.55	4.26	-0.838	0.10762	.	2.161710	0.02205	N	0.062627	T	0.13713	0.0332	L	0.50333	1.59	0.09310	N	1	B;B;B	0.24963	0.009;0.115;0.008	B;B;B	0.26517	0.005;0.07;0.01	T	0.24154	-1.0168	10	0.33940	T	0.23	.	3.7512	0.08568	0.3787:0.0:0.4575:0.1639	.	1667;1625;1667	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	K	1625;1667;1667	ENSP00000386627:R1625K;ENSP00000264448:R1667K;ENSP00000366944:R1667K	ENSP00000264448:R1667K	R	+	2	0	ALMS1	73532165	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.067000	0.03451	-0.173000	0.10761	0.563000	0.77884	AGG	-	NULL		0.463	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73532165	+1	no_errors	NM_015120	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
CCDC146	57639	genome.wustl.edu	37	7	76916769	76916769	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr7:76916769C>G	ENST00000285871.4	+	17	2417	c.2290C>G	c.(2290-2292)Ctg>Gtg	p.L764V	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.L478V	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	764										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGAACTACAACTGGCCAAGAA	0.433																																																0			7											82.0	83.0	83.0					7																	76916769		2203	4300	6503	76754705	SO:0001583	missense	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2290C>G	7.37:g.76916769C>G	ENSP00000285871:p.Leu764Val		76754705	A8K8X6|Q9P223	Missense_Mutation	SNP	NULL	p.L764V	ENST00000285871.4	37	c.2290	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487888	0.64074	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.42900	0.96;0.96	5.2	2.4	0.29515	.	0.148818	0.46442	D	0.000292	T	0.52125	0.1715	M	0.69463	2.115	0.48696	D	0.999691	D;D	0.67145	0.967;0.996	P;P	0.58928	0.556;0.848	T	0.46498	-0.9187	10	0.49607	T	0.09	-3.8323	7.7835	0.29078	0.1316:0.725:0.0:0.1434	.	478;764	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	V	764;478	ENSP00000285871:L764V;ENSP00000413885:L478V	ENSP00000285871:L764V	L	+	1	2	AC007000.1	76754705	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	3.435000	0.52849	0.197000	0.20387	0.467000	0.42956	CTG	-	NULL		0.433	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	protein_coding	OTTHUMT00000341449.1	C	NM_020879		76754705	+1	no_errors	NM_020879	genbank	human	validated	54_36p	missense	SNP	0.993	G
THBS4	7060	genome.wustl.edu	37	5	79355583	79355583	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr5:79355583C>A	ENST00000350881.2	+	7	1032	c.842C>A	c.(841-843)gCa>gAa	p.A281E	THBS4_ENST00000511733.1_Missense_Mutation_p.A190E|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	281					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GCTCCCCCTGCACCGCCAACA	0.597																																																0			5											124.0	123.0	124.0					5																	79355583		2203	4300	6503	79391339	SO:0001583	missense	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.842C>A	5.37:g.79355583C>A	ENSP00000339730:p.Ala281Glu		79391339	B2R909|Q86TG2	Missense_Mutation	SNP	PatternScan_EGF_1,HMMSmart_TSPN,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_CA,HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_SSF103647,HMMPfam_TSP_3,superfamily_ConA_like_lec_gl,HMMPfam_TSP_C	p.A281E	ENST00000350881.2	37	c.842	CCDS4049.1	5	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649731	0.29336	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.86164	-1.96;-2.08	4.81	4.81	0.61882	.	0.247626	0.32231	N	0.006397	T	0.72550	0.3474	N	0.08118	0	0.18873	N	0.999989	B	0.31383	0.321	B	0.29663	0.105	T	0.55218	-0.8175	10	0.02654	T	1	-9.3859	18.0475	0.89337	0.0:1.0:0.0:0.0	.	281	P35443	TSP4_HUMAN	E	281;190	ENSP00000339730:A281E;ENSP00000422298:A190E	ENSP00000339730:A281E	A	+	2	0	THBS4	79391339	0.054000	0.20591	0.076000	0.20297	0.436000	0.31835	2.884000	0.48562	2.656000	0.90262	0.655000	0.94253	GCA	-	NULL		0.597	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	protein_coding	OTTHUMT00000226977.1	C			79391339	+1	no_errors	NM_003248	genbank	human	reviewed	54_36p	missense	SNP	0.028	A
AKAP9	10142	genome.wustl.edu	37	7	91632198	91632198	+	Silent	SNP	A	A	G	rs193135042		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr7:91632198A>G	ENST00000359028.2	+	9	3228	c.3003A>G	c.(3001-3003)caA>caG	p.Q1001Q	AKAP9_ENST00000358100.2_Silent_p.Q1001Q|AKAP9_ENST00000356239.3_Silent_p.Q989Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1001	Glu-rich.			Q -> P (in Ref. 1; AAB86384 and 2; CAB40713). {ECO:0000305}.	G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAAGAACAAGTTTCATTGA	0.338			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0			7											77.0	80.0	79.0					7																	91632198		2203	4300	6503	91470134	SO:0001819	synonymous_variant	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3003A>G	7.37:g.91632198A>G			91470134	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil	p.Q989	ENST00000359028.2	37	c.2967		7																																																																																			-	NULL		0.338	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	protein_coding		A	NM_005751		91470134	+1	no_errors	NM_005751	genbank	human	reviewed	54_36p	silent	SNP	0.971	G
HTR7	3363	genome.wustl.edu	37	10	92509151	92509151	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr10:92509151G>T	ENST00000336152.3	-	2	766	c.740C>A	c.(739-741)gCa>gAa	p.A247E	HTR7_ENST00000277874.6_Missense_Mutation_p.A247E|HTR7_ENST00000371719.2_Missense_Mutation_p.A247E|HTR7_ENST00000371721.3_Missense_Mutation_p.A247E	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	247					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATATAAAATGCCACTGCGGT	0.463																																																0			10											80.0	84.0	83.0					10																	92509151		2203	4300	6503	92499131	SO:0001583	missense	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.740C>A	10.37:g.92509151G>T	ENSP00000337949:p.Ala247Glu		92499131	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A247E	ENST00000336152.3	37	c.740	CCDS7408.1	10	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000779	0.93227	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.91215	0.5002	10	0.87932	D	0	.	20.0697	0.97716	0.0:0.0:1.0:0.0	.	247;247	P34969;P34969-2	5HT7R_HUMAN;.	E	247	ENSP00000337949:A247E;ENSP00000277874:A247E;ENSP00000360784:A247E;ENSP00000360786:A247E	ENSP00000277874:A247E	A	-	2	0	HTR7	92499131	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	9.869000	0.99810	2.756000	0.94617	0.650000	0.86243	GCA	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.463	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	protein_coding	OTTHUMT00000049343.1	G	NM_000872		92499131	-1	no_errors	NM_019859	genbank	human	reviewed	54_36p	missense	SNP	0.800	T
OR13C8	138802	genome.wustl.edu	37	9	107331905	107331905	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr9:107331905C>A	ENST00000335040.1	+	1	457	c.457C>A	c.(457-459)Ctt>Att	p.L153I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGTCACTGGGCTTGTGGACTC	0.483																																																0			9											116.0	105.0	109.0					9																	107331905		2203	4300	6503	106371726	SO:0001583	missense	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.457C>A	9.37:g.107331905C>A	ENSP00000334068:p.Leu153Ile		106371726	Q5VVG0|Q96R44	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L153I	ENST00000335040.1	37	c.457	CCDS35090.1	9	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.181212	0.01633	.	.	ENSG00000186943	ENST00000335040	T	0.00216	8.53	5.18	-4.31	0.03698	GPCR, rhodopsin-like superfamily (1);	1.349040	0.05019	N	0.472405	T	0.00144	0.0004	L	0.39326	1.205	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.10451	-1.0629	10	0.24483	T	0.36	.	4.6926	0.12788	0.479:0.1854:0.0:0.3356	.	153	Q8NGS7	O13C8_HUMAN	I	153	ENSP00000334068:L153I	ENSP00000334068:L153I	L	+	1	0	OR13C8	106371726	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.511000	0.02260	-0.686000	0.05170	-0.878000	0.02970	CTT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.483	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	protein_coding	OTTHUMT00000053480.1	C			106371726	+1	no_errors	NM_001004483	genbank	human	provisional	54_36p	missense	SNP	0.000	A
EEF1A1P12	644604	genome.wustl.edu	37	2	107315031	107315031	+	IGR	SNP	G	G	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr2:107315031G>A								AC108868.6 (154278 upstream) : ST6GAL2 (103024 downstream)																							TTCTTTTGTCGATGCCACCGC	0.468																																																0			2																																								106681463	SO:0001628	intergenic_variant	0																															2.37:g.107315031G>A			106681463		RNA	SNP	-	NULL		37	NULL		2																																																																																			-	-	0	0.468					ENSG00000221149			G			106681463	-1	no_errors	ENST00000408222	ensembl	human	novel	54_36p	rna	SNP	1.000	A
VAV3	10451	genome.wustl.edu	37	1	108160229	108160229	+	Missense_Mutation	SNP	A	A	T	rs576499843		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr1:108160229A>T	ENST00000370056.4	-	21	2214	c.1940T>A	c.(1939-1941)gTt>gAt	p.V647D	VAV3_ENST00000415432.2_Missense_Mutation_p.V87D|VAV3_ENST00000527011.1_Missense_Mutation_p.V647D|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Missense_Mutation_p.V51D	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	647	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)			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)		AAAAAATCCAACCTCTCCAGA	0.353																																																0			1											78.0	81.0	80.0					1																	108160229		2203	4300	6503	107961752	SO:0001583	missense	10451			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.1940T>A	1.37:g.108160229A>T	ENSP00000359073:p.Val647Asp		107961752	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	HMMPfam_CH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMPfam_SH3_1	p.V647D	ENST00000370056.4	37	c.1940	CCDS785.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.65|18.65	3.670272|3.670272	0.67814|0.67814	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000529809|ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	.|T;T;T;T	.|0.09723	.|2.95;2.95;2.95;2.95	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Src homology-3 domain (3);Variant SH3 (1);	.|0.318671	.|0.33631	.|N	.|0.004712	T|T	0.15305|0.15305	0.0369|0.0369	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|P;P;B;P	.|0.45531	.|0.744;0.86;0.043;0.584	.|P;P;B;B	.|0.53313	.|0.588;0.723;0.311;0.305	T|T	0.01232|0.01232	-1.1411|-1.1411	5|10	.|0.31617	.|T	.|0.26	.|.	16.0663|16.0663	0.80878|0.80878	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|647;51;647;87	.|E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.|.;.;VAV3_HUMAN;.	M|D	175|647;647;51;87	.|ENSP00000359073:V647D;ENSP00000432540:V647D;ENSP00000446404:V51D;ENSP00000394897:V87D	.|ENSP00000359073:V647D	L|V	-|-	1|2	2|0	VAV3|VAV3	107961752|107961752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.333000|7.333000	0.79214|0.79214	2.196000|2.196000	0.70406|0.70406	0.533000|0.533000	0.62120|0.62120	TTG|GTT	-	superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2		0.353	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	protein_coding	OTTHUMT00000030242.2	A	NM_006113		107961752	-1	no_errors	NM_006113	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
METTL24	728464	genome.wustl.edu	37	6	110620245	110620245	+	Silent	SNP	G	G	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr6:110620245G>A	ENST00000338882.4	-	4	665	c.666C>T	c.(664-666)caC>caT	p.H222H		NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	222						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										GATACCAAAGGTGCTGACTCT	0.483																																																0			6											122.0	104.0	110.0					6																	110620245		1568	3582	5150	110726938	SO:0001819	synonymous_variant	728464				CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 186"""	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.666C>T	6.37:g.110620245G>A			110726938	Q6ZSU5	Silent	SNP	NULL	p.H222	ENST00000338882.4	37	c.666	CCDS43489.1	6																																																																																			-	NULL		0.483	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C6orf186	protein_coding	OTTHUMT00000041794.1	G	NM_001123364		110726938	-1	no_errors	ENST00000338882	ensembl	human	known	54_36p	silent	SNP	0.991	A
CDK5RAP2	55755	genome.wustl.edu	37	9	123199627	123199627	+	Nonsense_Mutation	SNP	G	G	A	rs375727174		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr9:123199627G>A	ENST00000349780.4	-	25	4080	c.3901C>T	c.(3901-3903)Cag>Tag	p.Q1301*	CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q1301*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q1269*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q1260*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1301					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGATTCAGCTGTTCCTGGAAA	0.478																																																0			9						G	stop/GLN,stop/GLN	0,4406		0,0,2203	164.0	123.0	136.0		3901,3901	5.9	1.0	9		136	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	CDK5RAP2	NM_001011649.1,NM_018249.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1301/1815,1301/1894	123199627	1,13005	2203	4300	6503	122239448	SO:0001587	stop_gained	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3901C>T	9.37:g.123199627G>A	ENSP00000343818:p.Gln1301*		122239448	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	HMMPfam_Microtub_assoc	p.Q1301*	ENST00000349780.4	37	c.3901	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	40	7.920217	0.98563	0.0	1.16E-4	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	1269;1260;1301;1301;695;311;1073	.	ENSP00000341695:Q1073X	Q	-	1	0	CDK5RAP2	122239448	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	CAG	-	NULL		0.478	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	protein_coding	OTTHUMT00000055535.1	G	NM_018249		122239448	-1	no_errors	NM_018249	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
PARP14	54625	genome.wustl.edu	37	3	122419019	122419019	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr3:122419019C>A	ENST00000474629.2	+	6	1884	c.1618C>A	c.(1618-1620)Cct>Act	p.P540T		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCAGGTTTCTCCTGAGATTTT	0.393																																																0			3											44.0	41.0	42.0					3																	122419019		1830	4094	5924	123901709	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1618C>A	3.37:g.122419019C>A	ENSP00000418194:p.Pro540Thr		123901709	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro,superfamily_ADP-ribosylation,HMMPfam_PARP	p.P540T	ENST00000474629.2	37	c.1618	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417319	0.42918	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.09911	2.93	5.45	-0.31	0.12765	.	0.564747	0.16942	N	0.193256	T	0.18383	0.0441	M	0.71581	2.175	0.09310	N	1	P;P	0.51351	0.944;0.926	P;P	0.50825	0.651;0.454	T	0.07046	-1.0793	10	0.66056	D	0.02	.	9.1084	0.36712	0.0:0.5295:0.0:0.4705	.	540;540	Q460N5-4;Q460N5	.;PAR14_HUMAN	T	540;459	ENSP00000418194:P540T	ENSP00000381228:P459T	P	+	1	0	PARP14	123901709	0.000000	0.05858	0.000000	0.03702	0.868000	0.49771	0.355000	0.20163	-0.248000	0.09583	0.650000	0.86243	CCT	-	NULL		0.393	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	protein_coding	OTTHUMT00000356173.2	C	NM_017554		123901709	+1	no_errors	NM_017554	genbank	human	validated	54_36p	missense	SNP	0.000	A
TMEM132D	121256	genome.wustl.edu	37	12	129566528	129566528	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr12:129566528C>T	ENST00000422113.2	-	7	2025	c.1699G>A	c.(1699-1701)Ggc>Agc	p.G567S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G105S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	567					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGGTGCAGCCGCGGCCCCTC	0.642																																																0			12											48.0	50.0	49.0					12																	129566528		2203	4300	6503	128132481	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1699G>A	12.37:g.129566528C>T	ENSP00000408581:p.Gly567Ser		128132481	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.G567S	ENST00000422113.2	37	c.1699	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440038	0.83993	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.30981	1.51;1.51	4.72	4.72	0.59763	.	0.080003	0.52532	D	0.000074	T	0.53769	0.1817	M	0.75884	2.315	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	P;P	0.62382	0.721;0.901	T	0.57476	-0.7805	9	.	.	.	-38.4624	17.6741	0.88225	0.0:1.0:0.0:0.0	.	567;105	Q14C87;Q14C87-2	T132D_HUMAN;.	S	105;567	ENSP00000374092:G105S;ENSP00000408581:G567S	.	G	-	1	0	TMEM132D	128132481	0.937000	0.31787	0.889000	0.34880	0.974000	0.67602	1.989000	0.40707	2.149000	0.67028	0.561000	0.74099	GGC	-	NULL		0.642	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	protein_coding	OTTHUMT00000399592.1	C	NM_133448		128132481	-1	no_errors	NM_133448	genbank	human	validated	54_36p	missense	SNP	0.992	T
TG	7038	genome.wustl.edu	37	8	134146966	134146966	+	Missense_Mutation	SNP	G	G	T	rs368489792		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr8:134146966G>T	ENST00000220616.4	+	48	8275	c.8235G>T	c.(8233-8235)ttG>ttT	p.L2745F	TG_ENST00000519543.1_Missense_Mutation_p.L878F|TG_ENST00000542445.1_Missense_Mutation_p.L1115F|TG_ENST00000377869.1_Missense_Mutation_p.L2688F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2745					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGAGGAGTTGACGGCTGGAT	0.542																																																0			8											116.0	99.0	105.0					8																	134146966		2203	4300	6503	134216148	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8235G>T	8.37:g.134146966G>T	ENSP00000220616:p.Leu2745Phe		134216148	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2	p.L2745F	ENST00000220616.4	37	c.8235	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.68|11.68	1.709564|1.709564	0.30322|0.30322	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	.|T;T;T;T;T	.|0.68479	.|-0.12;-0.13;-0.33;-0.32;0.82	3.52|3.52	-2.76|-2.76	0.05896|0.05896	.|.	.|8.243810	.|0.00166	.|N	.|0.000000	T|T	0.55097|0.55097	0.1899|0.1899	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|P;D;D	.|0.56521	.|0.956;0.969;0.976	.|P;P;P	.|0.47827	.|0.459;0.558;0.459	T|T	0.50048|0.50048	-0.8873|-0.8873	5|10	.|0.46703	.|T	.|0.11	.|.	5.0828|5.0828	0.14666|0.14666	0.5331:0.1655:0.3015:0.0|0.5331:0.1655:0.3015:0.0	.|.	.|878;1115;2745	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Y|F	1201|2688;1551;2745;864;1115;878;149	.|ENSP00000367100:L2688F;ENSP00000220616:L2745F;ENSP00000441693:L1115F;ENSP00000430430:L878F;ENSP00000430161:L149F	.|ENSP00000220616:L2745F	D|L	+|+	1|3	0|2	TG|TG	134216148|134216148	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.086000|0.086000	0.17979|0.17979	0.289000|0.289000	0.18957|0.18957	-0.696000|-0.696000	0.05098|0.05098	0.313000|0.313000	0.20887|0.20887	GAC|TTG	-	NULL		0.542	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	protein_coding	OTTHUMT00000379606.1	G	NM_003235		134216148	+1	no_errors	NM_003235	genbank	human	validated	54_36p	missense	SNP	0.000	T
MGAM	8972	genome.wustl.edu	37	7	141762405	141762405	+	Missense_Mutation	SNP	G	G	A	rs368560642		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr7:141762405G>A	ENST00000549489.2	+	35	4255	c.4160G>A	c.(4159-4161)cGt>cAt	p.R1387H	MGAM_ENST00000475668.2_Missense_Mutation_p.R1387H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1387	Glucoamylase.				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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACTTTTTCCGTAATTCAACT	0.388																																																0			7						G	HIS/ARG	0,3602		0,0,1801	45.0	38.0	40.0		4160	3.9	1.0	7		40	3,8075		0,3,4036	no	missense	MGAM	NM_004668.2	29	0,3,5837	AA,AG,GG		0.0371,0.0,0.0257	probably-damaging	1387/1858	141762405	3,11677	1801	4039	5840	141408874	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4160G>A	7.37:g.141762405G>A	ENSP00000447378:p.Arg1387His		141408874	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	HMMPfam_Trefoil,HMMPfam_Glyco_hydro_31	p.R1387H	ENST00000549489.2	37	c.4160	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392288	0.62066	0.0	3.71E-4	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92752	-3.1	3.87	3.87	0.44632	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.85221	0.5647	L	0.31120	0.905	0.33906	D	0.639044	B	0.29716	0.255	B	0.21708	0.036	D	0.86805	0.1994	9	0.44086	T	0.13	.	10.1486	0.42780	0.0:0.0:0.7997:0.2003	.	1387	O43451	MGA_HUMAN	H	1387;1387;1264	ENSP00000447378:R1387H	ENSP00000316431:R1264H	R	+	2	0	MGAM	141408874	1.000000	0.71417	0.994000	0.49952	0.843000	0.47879	5.493000	0.66899	1.707000	0.51288	0.306000	0.20318	CGT	-	HMMPfam_Glyco_hydro_31		0.388	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	protein_coding	OTTHUMT00000351244.3	G			141408874	+1	no_errors	NM_004668	genbank	human	reviewed	54_36p	missense	SNP	0.952	A
LCE2A	353139	genome.wustl.edu	37	1	152671470	152671470	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr1:152671470G>T	ENST00000368779.1	+	2	144	c.93G>T	c.(91-93)caG>caT	p.Q31H		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	31	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGACCTCAGTGCCCAGCCC	0.657																																																0			1											72.0	87.0	82.0					1																	152671470		2203	4300	6503	150938094	SO:0001583	missense	353139				CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.93G>T	1.37:g.152671470G>T	ENSP00000357768:p.Gln31His		150938094	A4QMZ9	Missense_Mutation	SNP	NULL	p.Q31H	ENST00000368779.1	37	c.93	CCDS1021.1	1	.	.	.	.	.	.	.	.	.	.	G	8.592	0.884833	0.17540	.	.	ENSG00000187173	ENST00000368779	T	0.04015	3.73	4.87	3.96	0.45880	.	.	.	.	.	T	0.02156	0.0067	L	0.34521	1.04	0.22745	N	0.998785	D	0.54207	0.965	P	0.44990	0.466	T	0.43163	-0.9408	9	0.87932	D	0	.	9.1216	0.36791	0.1033:0.0:0.8967:0.0	.	31	Q5TA79	LCE2A_HUMAN	H	31	ENSP00000357768:Q31H	ENSP00000357768:Q31H	Q	+	3	2	LCE2A	150938094	0.861000	0.29849	0.566000	0.28421	0.589000	0.36550	4.224000	0.58593	1.025000	0.39708	0.650000	0.86243	CAG	-	NULL		0.657	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2A	protein_coding	OTTHUMT00000034512.1	G	NM_178428		150938094	+1	no_errors	NM_178428	genbank	human	validated	54_36p	missense	SNP	0.964	T
TTN	7273	genome.wustl.edu	37	2	179475074	179475074	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr2:179475074G>T	ENST00000591111.1	-	221	46480	c.46256C>A	c.(46255-46257)aCc>aAc	p.T15419N	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T8120N|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T17060N|TTN_ENST00000342992.6_Missense_Mutation_p.T14492N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T8187N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T7995N			Q8WZ42	TITIN_HUMAN	titin	15419	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACTCTTGGTAATGTCACT	0.383																																																0			2											116.0	113.0	114.0					2																	179475074		1849	4091	5940	179183319	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46256C>A	2.37:g.179475074G>T	ENSP00000465570:p.Thr15419Asn		179183319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.T13042N	ENST00000591111.1	37	c.39125		2	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776968	0.49786	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75889	0.3911	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.76457	-0.2952	9	0.87932	D	0	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	7995;8120;8187;15419	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14492;7995;8187;8120;7995	ENSP00000343764:T14492N;ENSP00000434586:T7995N;ENSP00000340554:T8187N;ENSP00000352154:T8120N	ENSP00000340554:T8187N	T	-	2	0	TTN	179183319	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.807000	0.99171	2.760000	0.94817	0.655000	0.94253	ACC	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179183319	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	T
TRIM67	440730	genome.wustl.edu	37	1	231335999	231335999	+	Silent	SNP	T	T	C			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr1:231335999T>C	ENST00000366653.5	+	4	1369	c.1369T>C	c.(1369-1371)Tta>Cta	p.L457L	TRIM67_ENST00000366652.2_Silent_p.L457L|TRIM67_ENST00000444294.3_Silent_p.L457L|TRIM67_ENST00000449018.3_Silent_p.L395L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	457	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTCCGGGTTCTTACAGGTGAG	0.547																																																0			1											84.0	86.0	85.0					1																	231335999		1941	4130	6071	229402622	SO:0001819	synonymous_variant	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1369T>C	1.37:g.231335999T>C			229402622	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMSmart_SM00336,HMMPfam_zf-B_box,superfamily_B-box zinc-binding domain,HMMSmart_SM00502,HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00449,HMMPfam_SPRY	p.L457	ENST00000366653.5	37	c.1369	CCDS44333.1	1																																																																																			-	HMMSmart_SM00502		0.547	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	protein_coding	OTTHUMT00000092649.3	T	NM_001004342		229402622	+1	no_errors	NM_001004342	genbank	human	validated	54_36p	silent	SNP	0.997	C
NF1	4763	genome.wustl.edu	37	17	29559877	29559889	+	Frame_Shift_Del	DEL	CAGTGGTCTCATG	CAGTGGTCTCATG	-	rs200732832		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	CAGTGGTCTCATG	CAGTGGTCTCATG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr17:29559877_29559889delCAGTGGTCTCATG	ENST00000358273.4	+	26	3857_3869	c.3474_3486delCAGTGGTCTCATG	c.(3472-3486)gacagtggtctcatgfs	p.DSGLM1158fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.DSGLM1158fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1158					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAACGTAGACAGTGGTCTCATGCACTCCATAG	0.451			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17																																								26584015	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3474_3486delCAGTGGTCTCATG	17.37:g.29559877_29559889delCAGTGGTCTCATG	ENSP00000351015:p.Asp1158fs		26584003	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516	p.S1159fs	ENST00000358273.4	37	c.3474_3486	CCDS42292.1	17																																																																																			(deletion:cds_exon[26583844,26584025])	NULL		0.451	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	CAGTGGTCTCATG	NM_000267		26584015	+1	no_errors	NM_001042492	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
RYR3	6263	genome.wustl.edu	37	15	33926808	33926819	+	In_Frame_Del	DEL	CCCCGTCTGGTG	CCCCGTCTGGTG	-	rs371947863		TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	CCCCGTCTGGTG	CCCCGTCTGGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr15:33926808_33926819delCCCCGTCTGGTG	ENST00000389232.4	+	25	3119_3130	c.3049_3060delCCCCGTCTGGTG	c.(3049-3060)ccccgtctggtgdel	p.PRLV1017del	RYR3_ENST00000415757.3_In_Frame_Del_p.PRLV1017del	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1017	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAAAGAAATCCCCGTCTGGTGCCATATGCAT	0.467																																																0			15																																								31714111	SO:0001651	inframe_deletion	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3049_3060delCCCCGTCTGGTG	15.37:g.33926808_33926819delCCCCGTCTGGTG	ENSP00000373884:p.Pro1017_Val1020del		31714100	O15175|Q15412	In_Frame_Del	DEL	HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans	p.RLVP1018in_frame_del	ENST00000389232.4	37	c.3049_3060	CCDS45210.1	15																																																																																			(deletion:cds_exon[31714079,31714226])	HMMPfam_RyR		0.467	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	CCCCGTCTGGTG			31714111	+1	no_errors	NM_001036	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:1.000:0.997:1.000:1.000:0.862:0.904:0.997:0.997:1.000:1.000:1.000	-
OR4C6	219432	genome.wustl.edu	37	11	55433525	55433532	+	Frame_Shift_Del	DEL	GCCATGAA	GCCATGAA	-			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	GCCATGAA	GCCATGAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr11:55433525_55433532delGCCATGAA	ENST00000314259.3	+	1	912_919	c.883_890delGCCATGAA	c.(883-891)gccatgaagfs	p.AMK295fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A295D(2)|p.M296V(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGTGAAAAGTGCCATGAAGAAACTCTGG	0.433																																																3	Substitution - Missense(3)	lung(2)|endometrium(1)	11																																								55190108	SO:0001589	frameshift_variant	219432			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.883_890delGCCATGAA	11.37:g.55433525_55433532delGCCATGAA	ENSP00000324769:p.Ala295fs		55190101	B2RP11|Q6IFD2	Frame_Shift_Del	DEL	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A295fs	ENST00000314259.3	37	c.883_890	CCDS31506.1	11																																																																																			(deletion:cds_exon[55189219,55190148])	superfamily_Family A G protein-coupled receptor-like		0.433	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	protein_coding	OTTHUMT00000391504.1	GCCATGAA	NM_001004704		55190108	+1	no_errors	NM_001004704	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.020:0.018:0.022:0.046:0.064:0.027:0.009:0.006	-
HMGB1P37	100132863	genome.wustl.edu	37	9	124282594	124282594	+	IGR	DEL	C	C	-			TCGA-29-1694-01A-01W-0633-09	TCGA-29-1694-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6bc24f9b-1890-46f9-95b5-2113e4633a81	890b84f9-25a6-4f26-b662-dd110bfb1696	g.chr9:124282594delC								GGTA1P (20558 upstream) : AL357936.1 (19560 downstream)																							CAGGCATGGTCTTCCACCTCT	0.428																																																0			9																																								123322415	SO:0001628	intergenic_variant	0																															9.37:g.124282594delC			123322415		RNA	DEL	-	NULL		37	NULL		9																																																																																			(deletion:rna[123321456,123322530])	-	0	0.428					LOC100132863			C			123322415	-1	pseudogene	XR_039604	genbank	human	model	54_36p	rna	DEL	1.000	-
