#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_EVS_AA	i_EVS_All	i_EVS_EA	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_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AHNAK2	113146	genome.wustl.edu	37	14	105413154	105413154	+	Silent	SNP	G	G	A	rs533202251	byFrequency	TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr14:105413154G>A	ENST00000333244.5	-	7	8753	c.8634C>T	c.(8632-8634)gaC>gaT	p.D2878D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2878						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGTTTCACGTCCACCTGGC	0.617													.|||	8	0.00159744	0.0008	0.0	5008	,	,		17980	0.0069		0.0	False		,,,				2504	0.0					dbGAP											0													120.0	131.0	127.0					14																	105413154		1923	4125	6048	-	-	-	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8634C>T	14.37:g.105413154G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D2878	ENST00000333244.5	37	c.8634	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	93	0.00	0	G	NM_138420		105413154	105413154	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	silent	9	67.86	19	SNP	0.000	A
ALG10B	144245	genome.wustl.edu	37	12	38714107	38714107	+	Missense_Mutation	SNP	C	C	T	rs537712536		TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr12:38714107C>T	ENST00000308742.4	+	3	830	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	172					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTATGGAAATCATAAAACTTC	0.338																																						dbGAP											0													156.0	165.0	162.0					12																	38714107		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.514C>T	12.37:g.38714107C>T	ENSP00000310120:p.His172Tyr		B2RPF4	Missense_Mutation	SNP	pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10	p.H172Y	ENST00000308742.4	37	c.514	CCDS31772.1	12	.	.	.	.	.	.	.	.	.	.	c	18.79	3.699919	0.68501	.	.	ENSG00000175548	ENST00000308742	T	0.54071	0.59	3.26	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.52573	1.65	0.80722	D	1	P	0.40578	0.722	P	0.46144	0.505	T	0.45614	-0.9249	10	0.02654	T	1	.	12.7892	0.57523	0.0:1.0:0.0:0.0	.	172	Q5I7T1	AG10B_HUMAN	Y	172	ENSP00000310120:H172Y	ENSP00000310120:H172Y	H	+	1	0	ALG10B	37000374	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.308000	0.78929	2.124000	0.65301	0.561000	0.74099	CAT	ALG10B	-	pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10	ENSG00000175548		0.338	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10B	HGNC	protein_coding	OTTHUMT00000403349.1	382	0.00	0	C	NM_001013620		38714107	38714107	+1	no_errors	ENST00000308742	ensembl	human	known	69_37n	missense	276	39.47	180	SNP	1.000	T
ANGPT1	284	genome.wustl.edu	37	8	108359214	108359214	+	IGR	SNP	G	G	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr8:108359214G>C								ANGPT1 (10464 upstream) : RNA5SP275 (537507 downstream)																							TCTGCAGTCTGAGAGAGGAGG	0.488																																						dbGAP											0													150.0	135.0	140.0					8																	108359214		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0																															8.37:g.108359214G>C				Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.Q137E		37	c.409		8	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895163	0.72639	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520033	D;D	0.81908	-1.55;-1.55	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	M	0.75615	2.305	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.65443	0.935;0.935	D	0.85726	0.1328	10	0.14252	T	0.57	.	20.031	0.97536	0.0:0.0:1.0:0.0	.	137;137	Q5HYA0;Q15389	.;ANGP1_HUMAN	E	137;137;30	ENSP00000428340:Q137E;ENSP00000297450:Q137E	ENSP00000297450:Q137E	Q	-	1	0	ANGPT1	108428390	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	9.864000	0.99589	2.735000	0.93741	0.655000	0.94253	CAG	ANGPT1	-	NULL	ENSG00000154188	0	0.488					ANGPT1	HGNC			281	0.00	0	G			108359214	108359214	-1	no_errors	ENST00000517746	ensembl	human	known	69_37n	missense	118	44.08	93	SNP	1.000	C
ARMCX5	64860	genome.wustl.edu	37	X	101858440	101858440	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chrX:101858440G>A	ENST00000604957.1	+	1	3993	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S	RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000541409.1_Silent_p.S457S|ARMCX5_ENST00000372742.1_Silent_p.S457S|ARMCX5_ENST00000537008.1_Silent_p.S457S|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Silent_p.S457S|ARMCX5_ENST00000246174.2_Silent_p.S457S	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	457										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AAGTGTTTTCGTGTTTGTCTA	0.353																																						dbGAP											0													57.0	53.0	55.0					X																	101858440		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1371G>A	X.37:g.101858440G>A			B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S457	ENST00000604957.1	37	c.1371	CCDS14500.1	X																																																																																			ARMCX5	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000125962		0.353	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	407	0.00	0	G	NM_022838		101858440	101858440	+1	no_errors	ENST00000246174	ensembl	human	known	69_37n	silent	336	40.64	230	SNP	0.001	A
ARPP21	10777	genome.wustl.edu	37	3	35729359	35729359	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr3:35729359C>G	ENST00000187397.4	+	6	846	c.390C>G	c.(388-390)atC>atG	p.I130M	ARPP21_ENST00000417925.1_Missense_Mutation_p.I130M|ARPP21_ENST00000444190.1_Missense_Mutation_p.I130M|ARPP21_ENST00000337271.5_Missense_Mutation_p.I130M|ARPP21_ENST00000458225.1_Missense_Mutation_p.I130M	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	130					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AACCCAAGATCAGAATGTTAT	0.338																																						dbGAP											0													109.0	117.0	114.0					3																	35729359		2203	4299	6502	-	-	-	SO:0001583	missense	0			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.390C>G	3.37:g.35729359C>G	ENSP00000187397:p.Ile130Met		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.I130M	ENST00000187397.4	37	c.390	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751632	0.49362	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.23348	1.92;1.91;1.91;1.92;1.92	5.69	3.74	0.42951	.	0.330675	0.29558	N	0.011817	T	0.34513	0.0900	L	0.44542	1.39	0.30008	N	0.815425	D;D;D	0.62365	0.973;0.991;0.98	P;P;P	0.56823	0.807;0.73;0.804	T	0.16424	-1.0403	9	.	.	.	-21.4555	12.3816	0.55309	0.4138:0.5862:0.0:0.0	.	130;130;130	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	M	130	ENSP00000414351:I130M;ENSP00000337792:I130M;ENSP00000405276:I130M;ENSP00000187397:I130M;ENSP00000412326:I130M	.	I	+	3	3	ARPP21	35704363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.936000	0.28938	1.340000	0.45581	0.585000	0.79938	ATC	ARPP21	-	NULL	ENSG00000172995		0.338	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	541	0.00	0	C	NM_198399		35729359	35729359	+1	no_errors	ENST00000417925	ensembl	human	known	69_37n	missense	310	37.97	191	SNP	1.000	G
ATP13A4	84239	genome.wustl.edu	37	3	193185105	193185105	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr3:193185105C>T	ENST00000342695.4	-	10	1436	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	ATP13A4_ENST00000392443.3_Splice_Site_p.G372R|ATP13A4_ENST00000295548.3_Splice_Site_p.G372R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	372						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGATGCTAACCAGTCTGCAGT	0.443																																						dbGAP											0													70.0	66.0	68.0					3																	193185105		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1114+1G>A	3.37:g.193185105C>T			B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.G372R	ENST00000342695.4	37	c.1114	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682494	0.88542	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.94092	-3.35;-3.35;-3.35	6.16	6.16	0.99307	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	D	0.98128	0.9382	H	0.96662	3.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.98554	1.0638	9	.	.	.	-13.4301	19.848	0.96722	0.0:1.0:0.0:0.0	.	372;372;372	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	R	372	ENSP00000376238:G372R;ENSP00000339182:G372R;ENSP00000295548:G372R	.	G	-	1	0	ATP13A4	194667799	1.000000	0.71417	0.975000	0.42487	0.586000	0.36452	7.438000	0.80431	2.937000	0.99478	0.650000	0.86243	GGA	ATP13A4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000127249		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	123	0.00	0	C	NM_032279	Missense_Mutation	193185105	193185105	-1	no_errors	ENST00000342695	ensembl	human	known	69_37n	missense	71	37.17	42	SNP	1.000	T
AUNIP	79000	genome.wustl.edu	37	1	26162139	26162139	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:26162139G>A	ENST00000374298.3	-	3	473	c.419C>T	c.(418-420)tCt>tTt	p.S140F	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.S140F	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	140					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											GTGGTGGCCAGAAGTCTGGAG	0.512																																						dbGAP											0													153.0	145.0	148.0					1																	26162139		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.419C>T	1.37:g.26162139G>A	ENSP00000363416:p.Ser140Phe		C9EI59|Q53F70	Missense_Mutation	SNP	NULL	p.S140F	ENST00000374298.3	37	c.419	CCDS266.1	1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061745	0.55432	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.57595	0.39;0.39	4.87	2.96	0.34315	.	0.589219	0.15381	N	0.265339	T	0.39517	0.1081	L	0.34521	1.04	0.19300	N	0.999971	B	0.27679	0.185	B	0.29716	0.106	T	0.37337	-0.9710	10	0.87932	D	0	-22.7398	5.5875	0.17283	0.0998:0.0:0.7045:0.1956	.	140	Q9H7T9	CA135_HUMAN	F	140	ENSP00000443647:S140F;ENSP00000363416:S140F	ENSP00000363416:S140F	S	-	2	0	C1orf135	26034726	0.004000	0.15560	0.175000	0.22980	0.962000	0.63368	0.148000	0.16224	0.619000	0.30197	0.585000	0.79938	TCT	AUNIP	-	NULL	ENSG00000127423		0.512	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUNIP	HGNC	protein_coding	OTTHUMT00000019309.2	136	0.00	0	G	NM_024037		26162139	26162139	-1	no_errors	ENST00000538789	ensembl	human	known	69_37n	missense	77	49.68	77	SNP	0.239	A
BOC	91653	genome.wustl.edu	37	3	113004392	113004392	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr3:113004392G>T	ENST00000495514.1	+	19	3841	c.3137G>T	c.(3136-3138)tGg>tTg	p.W1046L	BOC_ENST00000355385.3_Missense_Mutation_p.W1046L|BOC_ENST00000273395.4_Missense_Mutation_p.W1047L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1046					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GAAGCAGTGTGGGACCCTCCA	0.602																																						dbGAP											0													37.0	35.0	36.0					3																	113004392		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3137G>T	3.37:g.113004392G>T	ENSP00000418663:p.Trp1046Leu		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.W1047L	ENST00000495514.1	37	c.3140	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	6.251	0.414494	0.11870	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57752	0.38;0.39;0.38	5.82	5.82	0.92795	.	0.183014	0.39274	N	0.001414	T	0.31857	0.0810	N	0.17082	0.46	0.34377	D	0.692641	B;B;B	0.33171	0.4;0.0;0.0	B;B;B	0.26969	0.075;0.002;0.001	T	0.42430	-0.9452	10	0.13108	T	0.6	.	12.5851	0.56412	0.076:0.0:0.924:0.0	.	863;1047;1046	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	L	1046;1047;1046	ENSP00000418663:W1046L;ENSP00000273395:W1047L;ENSP00000347546:W1046L	ENSP00000273395:W1047L	W	+	2	0	BOC	114487082	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	1.936000	0.40183	2.762000	0.94881	0.514000	0.50259	TGG	BOC	-	NULL	ENSG00000144857		0.602	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	34	0.00	0	G	NM_033254		113004392	113004392	+1	no_errors	ENST00000273395	ensembl	human	known	69_37n	missense	19	44.12	15	SNP	0.997	T
NOL4L	140688	genome.wustl.edu	37	20	31041555	31041556	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr20:31041555_31041556insG	ENST00000359676.5	-	4	538_539	c.396_397insC	c.(394-399)ccctacfs	p.Y133fs	C20orf112_ENST00000475781.1_5'UTR|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		133						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCAGAGCTGTAGGGGGGGGACT	0.634																																						dbGAP											0										28,4072		1,26,2023						5.0	1.0			20	27,7927		3,21,3953	no	frameshift	C20orf112	NM_080616.3		4,47,5976	A1A1,A1R,RR		0.3395,0.6829,0.4563				55,11999				-	-	-	SO:0001589	frameshift_variant	0																														ENST00000359676.5:c.397dupC	20.37:g.31041563_31041563dupG	ENSP00000352704:p.Tyr133fs		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Frame_Shift_Ins	INS	NULL	p.Y132fs	ENST00000359676.5	37	c.397_396	CCDS13202.1	20																																																																																			C20orf112	-	NULL	ENSG00000197183		0.634	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	9	0.00	0	-			31041555	31041556	-1	no_errors	ENST00000359676	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.997:0.034	G
CDH9	1007	genome.wustl.edu	37	5	26902585	26902585	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr5:26902585T>C	ENST00000231021.4	-	7	1425	c.1253A>G	c.(1252-1254)aAg>aGg	p.K418R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAGTACTTACTTTATTAAATT	0.313																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													59.0	56.0	57.0					5																	26902585		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1253+1A>G	5.37:g.26902585T>C			Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K418R	ENST00000231021.4	37	c.1253	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	T	4.964	0.179018	0.09443	.	.	ENSG00000113100	ENST00000231021	T	0.60672	0.17	5.62	4.46	0.54185	Cadherin (4);Cadherin-like (1);	0.276491	0.36482	N	0.002580	T	0.27134	0.0665	N	0.02266	-0.62	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.05699	-1.0869	9	.	.	.	.	7.914	0.29808	0.0:0.1606:0.0:0.8394	.	418	Q9ULB4	CADH9_HUMAN	R	418	ENSP00000231021:K418R	.	K	-	2	0	CDH9	26938342	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.630000	0.46494	0.966000	0.38159	0.528000	0.53228	AAG	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113100		0.313	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	161	0.00	0	T	NM_016279	Missense_Mutation	26902585	26902585	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	missense	99	40.00	66	SNP	1.000	C
CDH6	1004	genome.wustl.edu	37	5	31305333	31305333	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr5:31305333A>G	ENST00000265071.2	+	7	1317	c.1052A>G	c.(1051-1053)aAt>aGt	p.N351S	CDH6_ENST00000514738.1_Missense_Mutation_p.N296S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	351	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAGCCTCCAATCCTTATGTT	0.463																																						dbGAP											0													92.0	90.0	90.0					5																	31305333		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1052A>G	5.37:g.31305333A>G	ENSP00000265071:p.Asn351Ser		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N351S	ENST00000265071.2	37	c.1052	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	A	26.4	4.729471	0.89390	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.54479	0.57;0.57	5.88	5.88	0.94601	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	M	0.85462	2.755	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80410	-0.1394	10	0.87932	D	0	.	16.2792	0.82664	1.0:0.0:0.0:0.0	.	351;351	P55285;P55285-2	CADH6_HUMAN;.	S	296;351	ENSP00000424843:N296S;ENSP00000265071:N351S	ENSP00000265071:N351S	N	+	2	0	CDH6	31341090	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	8.920000	0.92779	2.243000	0.73865	0.533000	0.62120	AAT	CDH6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113361		0.463	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	323	0.00	0	A	NM_004932		31305333	31305333	+1	no_errors	ENST00000265071	ensembl	human	known	69_37n	missense	146	33.33	73	SNP	1.000	G
CDK7	1022	genome.wustl.edu	37	5	68551332	68551332	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr5:68551332G>A	ENST00000256443.3	+	5	377	c.274G>A	c.(274-276)Gat>Aat	p.D92N	CDK7_ENST00000502604.1_5'UTR|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000514676.1_Missense_Mutation_p.D92N	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CCTTGTCTTTGATTTTATGGA	0.308								Nucleotide excision repair (NER)																														dbGAP											0													108.0	126.0	120.0					5																	68551332		2201	4293	6494	-	-	-	SO:0001583	missense	0				CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.274G>A	5.37:g.68551332G>A	ENSP00000256443:p.Asp92Asn		Q9BS60|Q9UE19	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D92N	ENST00000256443.3	37	c.274	CCDS3999.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.406406	0.96051	.	.	ENSG00000134058	ENST00000256443;ENST00000514676	T;T	0.50001	0.76;0.76	5.42	5.42	0.78866	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	0.67998	0.2953	M	0.70595	2.14	0.80722	D	1	D;P	0.56287	0.975;0.936	D;D	0.64877	0.93;0.927	T	0.70407	-0.4880	10	0.87932	D	0	.	18.3587	0.90367	0.0:0.0:1.0:0.0	.	92;92	D6RAD4;P50613	.;CDK7_HUMAN	N	92	ENSP00000256443:D92N;ENSP00000422737:D92N	ENSP00000256443:D92N	D	+	1	0	CDK7	68587088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.428000	0.97476	2.705000	0.92388	0.655000	0.94253	GAT	CDK7	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000134058		0.308	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK7	HGNC	protein_coding	OTTHUMT00000216802.3	206	0.48	1	G	NM_001799		68551332	68551332	+1	no_errors	ENST00000256443	ensembl	human	known	69_37n	missense	161	39.02	103	SNP	1.000	A
CENPE	1062	genome.wustl.edu	37	4	104080339	104080339	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr4:104080339G>A	ENST00000265148.3	-	22	2518	c.2429C>T	c.(2428-2430)tCg>tTg	p.S810L	CENPE_ENST00000380026.3_Missense_Mutation_p.S785L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	810					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTATAATTCGACTGTGTAGT	0.338																																						dbGAP											0													137.0	140.0	139.0					4																	104080339		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2429C>T	4.37:g.104080339G>A	ENSP00000265148:p.Ser810Leu		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.S810L	ENST00000265148.3	37	c.2429	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.708131	0.00712	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.70631	-0.5;-0.5;-0.5	4.82	-1.09	0.09904	.	.	.	.	.	T	0.34832	0.0911	N	0.00801	-1.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29610	-1.0006	9	0.14656	T	0.56	.	9.8238	0.40899	0.5445:0.0:0.4555:0.0	.	785;810	Q02224-3;Q02224	.;CENPE_HUMAN	L	810;810;785;810	ENSP00000265148:S810L;ENSP00000369365:S785L;ENSP00000423981:S810L	ENSP00000265148:S810L	S	-	2	0	CENPE	104299788	0.002000	0.14202	0.000000	0.03702	0.123000	0.20343	0.966000	0.29331	0.008000	0.14787	-0.300000	0.09419	TCG	CENPE	-	NULL	ENSG00000138778		0.338	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		180	0.00	0	G			104080339	104080339	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	113	36.87	66	SNP	0.000	A
CEP57	9702	genome.wustl.edu	37	11	95552061	95552061	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr11:95552061C>G	ENST00000325542.5	+	6	930	c.692C>G	c.(691-693)gCa>gGa	p.A231G	CEP57_ENST00000325486.5_Missense_Mutation_p.A231G|CEP57_ENST00000538658.1_Missense_Mutation_p.A231G|CEP57_ENST00000537677.1_Missense_Mutation_p.A204G|CEP57_ENST00000541150.1_Missense_Mutation_p.A222G	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	231	centrosome localization domain (CLD). {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGCTAAGGCAGCTGAGGTA	0.348									Mosaic Variegated Aneuploidy Syndrome																													dbGAP											0													102.0	107.0	105.0					11																	95552061		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.692C>G	11.37:g.95552061C>G	ENSP00000317902:p.Ala231Gly		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.A231G	ENST00000325542.5	37	c.692	CCDS8304.1	11	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566524	0.86439	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541365;ENST00000538658;ENST00000541150;ENST00000537093	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	T	0.77089	0.4079	M	0.74647	2.275	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.995;0.998;0.996	T	0.80054	-0.1543	10	0.87932	D	0	-5.2465	18.8015	0.92018	0.0:1.0:0.0:0.0	.	222;231;231;231	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3	.;.;CEP57_HUMAN;.	G	204;231;231;204;231;222;52	ENSP00000441392:A204G;ENSP00000317902:A231G;ENSP00000317487:A231G;ENSP00000445821:A204G;ENSP00000445706:A231G;ENSP00000443436:A222G;ENSP00000444749:A52G	ENSP00000317487:A231G	A	+	2	0	CEP57	95191709	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.712000	0.68407	2.491000	0.84063	0.585000	0.79938	GCA	CEP57	-	pfam_Cep57_MT-bd_dom	ENSG00000166037		0.348	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	210	0.00	0	C	NM_014679		95552061	95552061	+1	no_errors	ENST00000325542	ensembl	human	known	69_37n	missense	97	42.60	72	SNP	1.000	G
CLEC18B	497190	genome.wustl.edu	37	16	74451960	74451960	+	Silent	SNP	C	C	T	rs201007386	byFrequency	TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr16:74451960C>T	ENST00000339953.5	-	3	574	c.453G>A	c.(451-453)acG>acA	p.T151T		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	151	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACTCACCTGCGTGTAGTGGG	0.592																																						dbGAP											0													8.0	9.0	8.0					16																	74451960		1773	3617	5390	-	-	-	SO:0001819	synonymous_variant	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.453G>A	16.37:g.74451960C>T			B4DF90	Silent	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EGF-like,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.T151	ENST00000339953.5	37	c.453	CCDS32484.1	16																																																																																			CLEC18B	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000140839		0.592	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	HGNC	protein_coding	OTTHUMT00000434697.1	19	0.00	0	C	NM_001011880		74451960	74451960	-1	no_errors	ENST00000339953	ensembl	human	known	69_37n	silent	9	25.00	3	SNP	0.578	T
CNKSR1	10256	genome.wustl.edu	37	1	26509860	26509860	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:26509860G>A	ENST00000374253.5	+	8	747	c.708G>A	c.(706-708)caG>caA	p.Q236Q	CNKSR1_ENST00000361530.6_Silent_p.Q236Q|CNKSR1_ENST00000531191.1_5'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	236	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGACTGCAGATCCAGCCTG	0.627																																					NSCLC(180;1396 2109 28270 30756 34275)	dbGAP											0													112.0	107.0	109.0					1																	26509860		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.708G>A	1.37:g.26509860G>A			B1AMW9|O95381	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ	p.R26K	ENST00000374253.5	37	c.77		1																																																																																			CNKSR1	-	pfam_PDZ,superfamily_PDZ	ENSG00000142675		0.627	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	65	0.00	0	G	NM_006314		26509860	26509860	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000528281	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	0.940	A
CREBRF	153222	genome.wustl.edu	37	5	172537652	172537652	+	Silent	SNP	C	C	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr5:172537652C>T	ENST00000296953.2	+	6	1864	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	CREBRF_ENST00000540014.1_Silent_p.V517V	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	515					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGACTCCAGTCAGTGAGCTTC	0.418																																						dbGAP											0													71.0	70.0	70.0					5																	172537652		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1545C>T	5.37:g.172537652C>T			B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Silent	SNP	NULL	p.V517	ENST00000296953.2	37	c.1551	CCDS34293.1	5																																																																																			CREBRF	-	NULL	ENSG00000164463		0.418	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	341	0.29	1	C	NM_153607		172537652	172537652	+1	no_errors	ENST00000540014	ensembl	human	known	69_37n	silent	195	43.15	148	SNP	1.000	T
CUX1	1523	genome.wustl.edu	37	7	101844815	101844815	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr7:101844815G>A	ENST00000292535.7	+	18	2276	c.2238G>A	c.(2236-2238)ctG>ctA	p.L746L	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.L757L|CUX1_ENST00000549414.2_Silent_p.L724L|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Silent_p.L644L|CUX1_ENST00000550008.2_Silent_p.L690L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.L588L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	746					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAAGCTTCTGTCCACCTCGC	0.657																																						dbGAP											0													138.0	141.0	140.0					7																	101844815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2238G>A	7.37:g.101844815G>A			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.L757	ENST00000292535.7	37	c.2271	CCDS5721.1	7																																																																																			CUX1	-	NULL	ENSG00000257923		0.657	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	70	0.00	0	G	NM_001913		101844815	101844815	+1	no_errors	ENST00000360264	ensembl	human	known	69_37n	silent	35	43.75	28	SNP	0.000	A
DCAF4L2	138009	genome.wustl.edu	37	8	88885242	88885242	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr8:88885242C>T	ENST00000319675.3	-	1	1054	c.958G>A	c.(958-960)Gtg>Atg	p.V320M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	320										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCACATGCACGGGTAGGTAG	0.537																																						dbGAP											0													95.0	93.0	94.0					8																	88885242		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.958G>A	8.37:g.88885242C>T	ENSP00000316496:p.Val320Met			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V320M	ENST00000319675.3	37	c.958	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571087	0.45798	.	.	ENSG00000176566	ENST00000319675	T	0.73047	-0.71	1.21	0.0784	0.14411	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.162606	0.44688	D	0.000423	T	0.48259	0.1490	L	0.31926	0.97	0.09310	N	0.999999	P	0.36315	0.547	B	0.28849	0.095	T	0.42548	-0.9445	10	0.66056	D	0.02	.	2.7566	0.05294	0.382:0.2528:0.3652:0.0	.	320	Q8NA75	DC4L2_HUMAN	M	320	ENSP00000316496:V320M	ENSP00000316496:V320M	V	-	1	0	DCAF4L2	88954358	0.959000	0.32827	0.050000	0.19076	0.046000	0.14306	-0.097000	0.11042	-0.833000	0.04245	-0.352000	0.07741	GTG	DCAF4L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000176566		0.537	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	105	0.00	0	C	NM_152418		88885242	88885242	-1	no_errors	ENST00000319675	ensembl	human	known	69_37n	missense	97	22.40	28	SNP	0.976	T
DLGAP4	22839	genome.wustl.edu	37	20	35155390	35155390	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr20:35155390G>A	ENST00000373907.2	+	12	3134	c.2935G>A	c.(2935-2937)Gac>Aac	p.D979N	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373913.3_Missense_Mutation_p.D976N|DLGAP4_ENST00000340491.4_Missense_Mutation_p.D440N|RP5-977B1.7_ENST00000433238.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Missense_Mutation_p.D976N|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D979N|RP5-977B1.7_ENST00000425233.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	979					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGAGAGCGCAGACAGCATCGA	0.557																																						dbGAP											0													37.0	41.0	40.0					20																	35155390		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2935G>A	20.37:g.35155390G>A	ENSP00000363014:p.Asp979Asn		E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	pfam_GKAP	p.D979N	ENST00000373907.2	37	c.2935		20	.	.	.	.	.	.	.	.	.	.	G	33	5.196660	0.94960	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.996;0.997;0.994	T	0.51857	-0.8652	10	0.87932	D	0	.	18.9602	0.92674	0.0:0.0:1.0:0.0	.	440;979;976	Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;DLGP4_HUMAN;.	N	976;976;979;979;440	ENSP00000363023:D976N;ENSP00000384954:D976N;ENSP00000363014:D979N;ENSP00000341633:D979N;ENSP00000345700:D440N	ENSP00000341633:D979N	D	+	1	0	DLGAP4	34588804	1.000000	0.71417	0.965000	0.40720	0.930000	0.56654	9.808000	0.99193	2.724000	0.93272	0.462000	0.41574	GAC	DLGAP4	-	pfam_GKAP	ENSG00000080845		0.557	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	34	0.00	0	G	NM_014902		35155390	35155390	+1	no_errors	ENST00000339266	ensembl	human	known	69_37n	missense	29	44.23	23	SNP	1.000	A
DNAH17	8632	genome.wustl.edu	37	17	76472688	76472688	+	Missense_Mutation	SNP	C	C	G	rs529346098		TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr17:76472688C>G	ENST00000585328.1	-	52	8229	c.8105G>C	c.(8104-8106)aGa>aCa	p.R2702T	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Missense_Mutation_p.R2693T	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2693					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATGGTGACTCTATGCAATGT	0.532																																						dbGAP											0													147.0	170.0	162.0					17																	76472688		2029	4174	6203	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8105G>C	17.37:g.76472688C>G	ENSP00000465516:p.Arg2702Thr		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.R2693T	ENST00000585328.1	37	c.8078		17	.	.	.	.	.	.	.	.	.	.	C	7.238	0.600748	0.13939	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.22743	1.94	4.64	3.43	0.39272	.	.	.	.	.	T	0.27967	0.0689	L	0.46741	1.465	0.09310	N	1	.	.	.	.	.	.	T	0.09773	-1.0659	7	0.66056	D	0.02	.	11.5397	0.50659	0.0:0.8512:0.0:0.1488	.	.	.	.	T	2702;2693	ENSP00000374490:R2693T	ENSP00000300671:R2702T	R	-	2	0	DNAH17	73984283	0.084000	0.21492	0.956000	0.39512	0.113000	0.19764	1.350000	0.34010	2.136000	0.66102	0.455000	0.32223	AGA	DNAH17	-	NULL	ENSG00000187775		0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	17	0.00	0	C	NM_173628		76472688	76472688	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	7	63.16	12	SNP	0.042	G
DOK5	55816	genome.wustl.edu	37	20	53260054	53260054	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr20:53260054C>T	ENST00000262593.5	+	7	1143	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	DOK5_ENST00000395939.1_Missense_Mutation_p.R157C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	265					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCCCCTGCCTCGCAGCGCCTA	0.627																																						dbGAP											0													57.0	51.0	53.0					20																	53260054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.793C>T	20.37:g.53260054C>T	ENSP00000262593:p.Arg265Cys		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.R265C	ENST00000262593.5	37	c.793	CCDS13446.1	20	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705757	0.89018	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.93604	-2.25;-3.25	5.29	5.29	0.74685	.	0.057208	0.64402	D	0.000001	D	0.94918	0.8357	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.973	D	0.95350	0.8446	10	0.59425	D	0.04	-7.3495	17.9128	0.88939	0.0:1.0:0.0:0.0	.	157;265	Q9P104-2;Q9P104	.;DOK5_HUMAN	C	265;157	ENSP00000262593:R265C;ENSP00000379270:R157C	ENSP00000262593:R265C	R	+	1	0	DOK5	52693461	0.999000	0.42202	0.988000	0.46212	0.994000	0.84299	5.142000	0.64820	2.464000	0.83262	0.563000	0.77884	CGC	DOK5	-	NULL	ENSG00000101134		0.627	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK5	HGNC	protein_coding	OTTHUMT00000079777.2	54	0.00	0	C			53260054	53260054	+1	no_errors	ENST00000262593	ensembl	human	known	69_37n	missense	31	47.46	28	SNP	0.998	T
ECHS1	1892	genome.wustl.edu	37	10	135179586	135179586	+	Silent	SNP	C	C	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr10:135179586C>T	ENST00000368547.3	-	6	988	c.633G>A	c.(631-633)aaG>aaA	p.K211K		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	211					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CAGGACAAATCTTGCTGACAA	0.473																																					GBM(132;1720 1771 5373 10277 21402)	dbGAP											0													110.0	95.0	100.0					10																	135179586		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.633G>A	10.37:g.135179586C>T			O00739|Q5VWY1|Q96H54	Silent	SNP	pfam_Crotonase_core	p.K211	ENST00000368547.3	37	c.633	CCDS7681.1	10																																																																																			ECHS1	-	pfam_Crotonase_core	ENSG00000127884		0.473	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHS1	HGNC	protein_coding	OTTHUMT00000051156.1	25	0.00	0	C			135179586	135179586	-1	no_errors	ENST00000368547	ensembl	human	known	69_37n	silent	11	42.11	8	SNP	0.990	T
EPHA8	2046	genome.wustl.edu	37	1	22903295	22903295	+	Missense_Mutation	SNP	G	G	A	rs202015824		TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:22903295G>A	ENST00000166244.3	+	3	817	c.745G>A	c.(745-747)Gcg>Acg	p.A249T	EPHA8_ENST00000538803.1_Missense_Mutation_p.A249T|EPHA8_ENST00000374644.4_Missense_Mutation_p.A249T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	249	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTACTGCAGCGCGGAGGGCGA	0.692																																						dbGAP											0													44.0	43.0	43.0					1																	22903295		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.745G>A	1.37:g.22903295G>A	ENSP00000166244:p.Ala249Thr		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.A249T	ENST00000166244.3	37	c.745	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865997	0.71949	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.73789	-0.78;5.05;5.05	4.09	4.09	0.47781	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	L	0.57130	1.785	0.51012	D	0.999901	D;D	0.89917	1.0;0.97	D;P	0.83275	0.996;0.555	T	0.81366	-0.0965	10	0.33141	T	0.24	.	15.0354	0.71741	0.0:0.0:1.0:0.0	.	249;249	P29322;P29322-2	EPHA8_HUMAN;.	T	249	ENSP00000166244:A249T;ENSP00000363775:A249T;ENSP00000440274:A249T	ENSP00000166244:A249T	A	+	1	0	EPHA8	22775882	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.575000	0.74018	2.103000	0.63969	0.442000	0.29010	GCG	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000070886		0.692	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	11	0.00	0	G	NM_020526		22903295	22903295	+1	no_errors	ENST00000166244	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	1.000	A
FLNB	2317	genome.wustl.edu	37	3	58089787	58089788	+	Frame_Shift_Ins	INS	-	-	G	rs145086495		TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr3:58089787_58089788insG	ENST00000295956.4	+	10	1750_1751	c.1585_1586insG	c.(1585-1587)tggfs	p.W529fs	FLNB_ENST00000493452.1_Frame_Shift_Ins_p.W360fs|FLNB_ENST00000358537.3_Frame_Shift_Ins_p.W529fs|FLNB_ENST00000357272.4_Frame_Shift_Ins_p.W529fs|FLNB_ENST00000348383.5_Frame_Shift_Ins_p.W529fs|FLNB_ENST00000490882.1_Frame_Shift_Ins_p.W529fs|FLNB_ENST00000429972.2_Frame_Shift_Ins_p.W529fs|FLNB_ENST00000419752.2_Frame_Shift_Ins_p.W360fs	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	529					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACAC	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1592dupG	3.37:g.58089794_58089794dupG	ENSP00000295956:p.Trp529fs		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Frame_Shift_Ins	INS	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.H532fs	ENST00000295956.4	37	c.1585_1586	CCDS2885.1	3																																																																																			FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.594	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	50	0.00	0	-	NM_001457		58089787	58089788	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	frame_shift_ins	33	13.16	5	INS	1.000:1.000	G
GAB3	139716	genome.wustl.edu	37	X	153925488	153925488	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chrX:153925488G>A	ENST00000369575.3	-	7	1374	c.1343C>T	c.(1342-1344)tCa>tTa	p.S448L	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Splice_Site_p.S449L	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	448					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGTGGCCGTGCTACAAGACA	0.488																																						dbGAP											0													115.0	98.0	104.0					X																	153925488		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1343-1C>T	X.37:g.153925488G>A			A6NHF8|E9PB44	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S449L	ENST00000369575.3	37	c.1346	CCDS14760.1	X	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796819	0.16327	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.18502	2.21;2.21;2.21	4.95	4.07	0.47477	.	1.198120	0.05554	N	0.568004	T	0.20618	0.0496	M	0.66939	2.045	0.27240	N	0.959176	B;B;B	0.18013	0.02;0.025;0.02	B;B;B	0.14023	0.01;0.008;0.006	T	0.32877	-0.9890	10	0.27785	T	0.31	.	5.7814	0.18308	0.1022:0.0:0.7028:0.195	.	449;449;448	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	L	448;449;449	ENSP00000358588:S448L;ENSP00000358581:S449L;ENSP00000399588:S449L	ENSP00000358581:S449L	S	-	2	0	GAB3	153578682	1.000000	0.71417	0.985000	0.45067	0.079000	0.17450	1.431000	0.34925	0.968000	0.38212	-0.237000	0.12165	TCA	GAB3	-	NULL	ENSG00000160219		0.488	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	108	0.00	0	G	NM_001081573	Missense_Mutation	153925488	153925488	-1	no_errors	ENST00000424127	ensembl	human	known	69_37n	missense	98	32.41	47	SNP	1.000	A
GRAMD1B	57476	genome.wustl.edu	37	11	123481044	123481044	+	Silent	SNP	C	C	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr11:123481044C>G	ENST00000529750.1	+	13	1815	c.1488C>G	c.(1486-1488)ctC>ctG	p.L496L	GRAMD1B_ENST00000456860.2_Silent_p.L503L|GRAMD1B_ENST00000450171.2_Silent_p.L187L|GRAMD1B_ENST00000322282.7_Silent_p.L496L	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	496						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		AGAGCCGACTCAGGTGTGGTG	0.562																																						dbGAP											0													110.0	110.0	110.0					11																	123481044		2013	4169	6182	-	-	-	SO:0001819	synonymous_variant	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1488C>G	11.37:g.123481044C>G			Q6UW85|Q9ULL9	Silent	SNP	pfam_GRAM,smart_GRAM	p.L496	ENST00000529750.1	37	c.1488	CCDS53720.1	11																																																																																			GRAMD1B	-	NULL	ENSG00000023171		0.562	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	126	0.79	1	C	XM_370660		123481044	123481044	+1	no_errors	ENST00000322282	ensembl	human	known	69_37n	silent	86	26.50	31	SNP	1.000	G
GTDC1	79712	genome.wustl.edu	37	2	144764838	144764838	+	Silent	SNP	A	A	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr2:144764838A>G	ENST00000392869.2	-	6	938	c.786T>C	c.(784-786)aaT>aaC	p.N262N	GTDC1_ENST00000463875.2_Silent_p.N133N|GTDC1_ENST00000542155.1_Silent_p.N262N|GTDC1_ENST00000409214.1_Silent_p.N262N|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Silent_p.N262N|GTDC1_ENST00000344850.4_Silent_p.N262N|GTDC1_ENST00000392867.3_Silent_p.N262N	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	262					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GATTTTGTTTATTTTCACCAT	0.403																																						dbGAP											0													121.0	113.0	116.0					2																	144764838		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.786T>C	2.37:g.144764838A>G			A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Silent	SNP	pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1	p.N262	ENST00000392869.2	37	c.786	CCDS33300.1	2																																																																																			GTDC1	-	NULL	ENSG00000121964		0.403	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC1	HGNC	protein_coding	OTTHUMT00000254779.2	155	0.00	0	A	NM_024659		144764838	144764838	-1	no_errors	ENST00000344850	ensembl	human	known	69_37n	silent	51	62.22	84	SNP	0.000	G
IGHG3	3502	genome.wustl.edu	37	14	106237611	106237611	+	RNA	SNP	C	C	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr14:106237611C>T	ENST00000390551.2	-	0	131							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CTGGTCAGGGCGCCTGAGTTC	0.672																																						dbGAP											0													33.0	29.0	30.0					14																	106237611		1917	4061	5978	-	-	-			0			M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237611C>T			A2NU35	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.A44	ENST00000390551.2	37	c.132		14																																																																																			IGHG3	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211897		0.672	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHG3	HGNC	IG_C_gene	OTTHUMT00000326654.1	131	0.00	0	C	NG_001019		106237611	106237611	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390551	ensembl	human	known	69_37n	silent	26	73.20	71	SNP	0.001	T
KCNB2	9312	genome.wustl.edu	37	8	73848476	73848476	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr8:73848476G>A	ENST00000523207.1	+	3	1474	c.886G>A	c.(886-888)Gtg>Atg	p.V296M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	296					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V296L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GTTCCAAAACGTGAGGCGCGT	0.527																																						dbGAP											1	Substitution - Missense(1)	lung(1)											89.0	87.0	88.0					8																	73848476		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.886G>A	8.37:g.73848476G>A	ENSP00000430846:p.Val296Met		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.V296M	ENST00000523207.1	37	c.886	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.089106	0.94100	.	.	ENSG00000182674	ENST00000523207	D	0.98493	-4.96	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.41097	D	0.000947	D	0.97015	0.9025	L	0.31578	0.945	0.80722	D	1	P	0.52061	0.95	P	0.48921	0.595	D	0.97140	0.9824	10	0.51188	T	0.08	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	296	Q92953	KCNB2_HUMAN	M	296	ENSP00000430846:V296M	ENSP00000430846:V296M	V	+	1	0	KCNB2	74011030	1.000000	0.71417	0.833000	0.33012	0.992000	0.81027	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	GTG	KCNB2	-	pfam_Ion_trans_dom	ENSG00000182674		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	148	0.00	0	G	NM_004770		73848476	73848476	+1	no_errors	ENST00000523207	ensembl	human	known	69_37n	missense	99	40.72	68	SNP	1.000	A
KIAA0226	9711	genome.wustl.edu	37	3	197421375	197421375	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr3:197421375C>G	ENST00000296343.5	-	10	1554	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	KIAA0226_ENST00000273582.5_Missense_Mutation_p.E474Q|KIAA0226_ENST00000389665.5_Missense_Mutation_p.E519Q	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	519					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCCTCCTCCTCTAGGCACTGG	0.537																																					Esophageal Squamous(3;167 355 3763 15924)	dbGAP											0													149.0	147.0	148.0					3																	197421375		2051	4206	6257	-	-	-	SO:0001583	missense	0			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1555G>C	3.37:g.197421375C>G	ENSP00000296343:p.Glu519Gln		Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.E519Q	ENST00000296343.5	37	c.1555	CCDS43195.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	9.719|9.719|9.719	1.159195|1.159195|1.159195	0.21454|0.21454|0.21454	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000447048|ENST00000413360|ENST00000415452	.|.|.	.|.|.	.|.|.	4.86|4.86|4.86	3.98|3.98|3.98	0.46160|0.46160|0.46160	.|.|.	0.146062|.|.	0.43747|.|.	N|.|.	0.000538|.|.	T|T|.	0.40909|0.40909|.	0.1136|0.1136|.	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.37872|0.37872|0.37872	D|D|D	0.930094|0.930094|0.930094	B;B;B;B|.|.	0.19331|.|.	0.013;0.035;0.007;0.021|.|.	B;B;B;B|.|.	0.18871|.|.	0.011;0.023;0.01;0.007|.|.	T|T|.	0.35748|0.35748|.	-0.9776|-0.9776|.	9|5|.	0.41790|.|.	T|.|.	0.15|.|.	.|.|.	13.6323|13.6323|13.6323	0.62202|0.62202|0.62202	0.0:0.7035:0.2965:0.0|0.0:0.7035:0.2965:0.0|0.0:0.7035:0.2965:0.0	.|.|.	367;519;474;519|.|.	Q5HYI6;Q92622-3;Q92622-2;Q92622|.|.	.;.;.;RUBIC_HUMAN|.|.	Q|T|Y	474;519;519;119|480|277	.|.|.	ENSP00000273582:E474Q|.|.	E|R|X	-|-|-	1|2|3	0|0|2	KIAA0226|KIAA0226|KIAA0226	198905772|198905772|198905772	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.816000|0.816000|0.816000	0.32577|0.32577|0.32577	0.151000|0.151000|0.151000	0.21798|0.21798|0.21798	4.464000|4.464000|4.464000	0.60134|0.60134|0.60134	1.030000|1.030000|1.030000	0.39839|0.39839|0.39839	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|AGA|TAG	KIAA0226	-	NULL	ENSG00000145016		0.537	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	121	0.00	0	C	XM_032901		197421375	197421375	-1	no_errors	ENST00000296343	ensembl	human	known	69_37n	missense	63	45.22	52	SNP	0.998	G
EFCAB14	9813	genome.wustl.edu	37	1	47183644	47183644	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:47183644G>A	ENST00000371933.3	-	1	1092	c.116C>T	c.(115-117)tCa>tTa	p.S39L	EFCAB14_ENST00000544071.1_Missense_Mutation_p.S39L	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	39							calcium ion binding (GO:0005509)										CTCAGAGTCTGAGTCGGGAGG	0.547																																						dbGAP											0													75.0	72.0	73.0					1																	47183644		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.116C>T	1.37:g.47183644G>A	ENSP00000361001:p.Ser39Leu		D3DQ23|Q5SXB8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.S39L	ENST00000371933.3	37	c.116	CCDS30706.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823614	0.90873	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.51817	0.69;1.6	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.61133	-0.7124	10	0.35671	T	0.21	-3.4902	19.1735	0.93590	0.0:0.0:1.0:0.0	.	39;39;39	F5H7K3;B7Z444;O75071	.;.;K0494_HUMAN	L	39	ENSP00000442465:S39L;ENSP00000361001:S39L	ENSP00000361001:S39L	S	-	2	0	KIAA0494	46956231	1.000000	0.71417	0.999000	0.59377	0.475000	0.33008	7.939000	0.87685	2.836000	0.97738	0.655000	0.94253	TCA	KIAA0494	-	NULL	ENSG00000159658		0.547	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0494	HGNC	protein_coding	OTTHUMT00000021931.1	56	0.00	0	G	NM_014774		47183644	47183644	-1	no_errors	ENST00000371933	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	1.000	A
KIAA1377	57562	genome.wustl.edu	37	11	101828905	101828905	+	Silent	SNP	A	A	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr11:101828905A>C	ENST00000263468.8	+	5	783	c.513A>C	c.(511-513)atA>atC	p.I171I	KIAA1377_ENST00000537689.1_5'UTR	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	171										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ACAGAGCTATAGATTCTGCCT	0.318																																						dbGAP											0													205.0	224.0	217.0					11																	101828905		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.513A>C	11.37:g.101828905A>C			Q4G0U6	Silent	SNP	NULL	p.I171	ENST00000263468.8	37	c.513	CCDS31658.1	11																																																																																			KIAA1377	-	NULL	ENSG00000110318		0.318	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	929	0.21	2	A	NM_020802		101828905	101828905	+1	no_errors	ENST00000263468	ensembl	human	known	69_37n	silent	553	35.73	308	SNP	1.000	C
KIF2A	3796	genome.wustl.edu	37	5	61643923	61643923	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr5:61643923G>A	ENST00000401507.3	+	3	519	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.E70K|KIF2A_ENST00000381103.2_Missense_Mutation_p.E50K|KIF2A_ENST00000506857.1_Missense_Mutation_p.E43K	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	70	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGTTCCTGATGAAGAAATTGA	0.398																																						dbGAP											0													140.0	138.0	139.0					5																	61643923		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.208G>A	5.37:g.61643923G>A	ENSP00000385622:p.Glu70Lys		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E70K	ENST00000401507.3	37	c.208	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145321	0.77888	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000512541;ENST00000506857	T;T;T;T;T;T	0.74315	-0.66;-0.65;1.85;-0.83;0.82;-0.66	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.22414	0.041;0.069;0.021;0.005	B;B;B;B	0.32928	0.074;0.155;0.007;0.004	T	0.60865	-0.7178	10	0.08381	T	0.77	.	19.0952	0.93248	0.0:0.0:1.0:0.0	.	70;70;70;50	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	K	70;50;70;70;43;43	ENSP00000385622:E70K;ENSP00000370493:E50K;ENSP00000423542:E70K;ENSP00000385000:E70K;ENSP00000425411:E43K;ENSP00000423772:E43K	ENSP00000370493:E50K	E	+	1	0	KIF2A	61679680	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.318000	0.96334	2.522000	0.85027	0.460000	0.39030	GAA	KIF2A	-	NULL	ENSG00000068796		0.398	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	214	0.00	0	G	NM_004520		61643923	61643923	+1	no_errors	ENST00000407818	ensembl	human	known	69_37n	missense	125	37.50	75	SNP	1.000	A
KIF2C	11004	genome.wustl.edu	37	1	45227643	45227643	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:45227643G>C	ENST00000372224.4	+	17	1852	c.1739G>C	c.(1738-1740)aGa>aCa	p.R580T	KIF2C_ENST00000372218.4_Missense_Mutation_p.R539T|KIF2C_ENST00000372217.1_Missense_Mutation_p.R526T|RP11-269F19.2_ENST00000440985.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.R467T	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	580	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AACACCCTGAGATATGCAGAC	0.537																																						dbGAP											0													131.0	119.0	123.0					1																	45227643		2203	4300	6503	-	-	-	SO:0001583	missense	0			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1739G>C	1.37:g.45227643G>C	ENSP00000361298:p.Arg580Thr		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R580T	ENST00000372224.4	37	c.1739	CCDS512.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.145650|5.145650	0.94603|0.94603	.|.	.|.	ENSG00000142945|ENSG00000142945	ENST00000423289|ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	.|T;T;T;T	.|0.76578	.|-1.03;-1.03;-1.03;-1.03	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Kinesin, motor domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90793|0.90793	0.7109|0.7109	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.996;0.999	D|D	0.91991|0.91991	0.5603|0.5603	5|10	.|0.87932	.|D	.|0	.|.	19.7926|19.7926	0.96466|0.96466	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|539;526;580	.|B7Z6Q6;Q99661-2;Q99661	.|.;.;KIF2C_HUMAN	H|T	58|580;539;467;526	.|ENSP00000361298:R580T;ENSP00000361292:R539T;ENSP00000361296:R467T;ENSP00000361291:R526T	.|ENSP00000361291:R526T	D|R	+|+	1|2	0|0	KIF2C|KIF2C	45000230|45000230	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	9.789000|9.789000	0.99068|0.99068	2.761000|2.761000	0.94854|0.94854	0.655000|0.655000	0.94253|0.94253	GAT|AGA	KIF2C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000142945		0.537	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	71	0.00	0	G	NM_006845		45227643	45227643	+1	no_errors	ENST00000372224	ensembl	human	known	69_37n	missense	50	25.37	17	SNP	1.000	C
KLHL12	59349	genome.wustl.edu	37	1	202862414	202862414	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:202862414G>C	ENST00000367261.3	-	11	1751	c.1533C>G	c.(1531-1533)tgC>tgG	p.C511W	KLHL12_ENST00000435533.3_Missense_Mutation_p.C549W|KLHL12_ENST00000367259.1_Intron	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	511	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCCTACATAGCATCGTGGAG	0.493																																						dbGAP											0													181.0	170.0	174.0					1																	202862414		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1533C>G	1.37:g.202862414G>C	ENSP00000356230:p.Cys511Trp		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C549W	ENST00000367261.3	37	c.1647	CCDS1429.1	1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.426193	0.62733	.	.	ENSG00000117153	ENST00000367261;ENST00000435533	T;T	0.79454	-1.27;-1.27	5.54	1.61	0.23674	Galactose oxidase, beta-propeller (1);	0.081085	0.85682	D	0.000000	T	0.79488	0.4454	L	0.35542	1.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.77778	-0.2460	10	0.66056	D	0.02	.	9.6433	0.39853	0.3403:0.0:0.6597:0.0	.	549;511	B7Z7B8;Q53G59	.;KLH12_HUMAN	W	511;549	ENSP00000356230:C511W;ENSP00000416886:C549W	ENSP00000356230:C511W	C	-	3	2	KLHL12	201129037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.171000	0.42453	0.393000	0.25203	0.650000	0.86243	TGC	KLHL12	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000117153		0.493	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL12	HGNC	protein_coding	OTTHUMT00000099151.1	236	0.00	0	G	NM_021633		202862414	202862414	-1	no_errors	ENST00000435533	ensembl	human	known	69_37n	missense	118	38.54	74	SNP	1.000	C
LGSN	51557	genome.wustl.edu	37	6	63990178	63990178	+	Silent	SNP	G	G	A	rs572903370		TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr6:63990178G>A	ENST00000370657.4	-	4	1311	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	426					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATCTAAGCCGGCAGCAACAG	0.453																																						dbGAP											0													67.0	69.0	68.0					6																	63990178		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1278C>T	6.37:g.63990178G>A			A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.A426	ENST00000370657.4	37	c.1278	CCDS4964.1	6																																																																																			LGSN	-	pfam_Gln_synth_cat_dom	ENSG00000146166		0.453	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGSN	HGNC	protein_coding	OTTHUMT00000041076.2	149	0.00	0	G	NM_016571		63990178	63990178	-1	no_errors	ENST00000370657	ensembl	human	known	69_37n	silent	88	36.23	50	SNP	0.103	A
LRP2BP	55805	genome.wustl.edu	37	4	186291899	186291899	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr4:186291899G>A	ENST00000328559.7	-	7	1684	c.873C>T	c.(871-873)ttC>ttT	p.F291F	LRP2BP_ENST00000362004.3_Silent_p.F293F|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Silent_p.F291F|LRP2BP_ENST00000510776.1_Silent_p.F265F	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	291						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CTCTGCCGATGAACTCCGGGA	0.502																																						dbGAP											0													132.0	108.0	116.0					4																	186291899		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.873C>T	4.37:g.186291899G>A			A6NJR7|A7E219|B3KX83|Q9NSN6	Silent	SNP	pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F293	ENST00000328559.7	37	c.879	CCDS3840.1	4																																																																																			LRP2BP	-	NULL	ENSG00000109771		0.502	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRP2BP	HGNC	protein_coding	OTTHUMT00000360679.2	114	0.00	0	G	NM_018409		186291899	186291899	-1	no_errors	ENST00000362004	ensembl	human	known	69_37n	silent	50	43.82	39	SNP	1.000	A
LRRK1	79705	genome.wustl.edu	37	15	101549212	101549212	+	Silent	SNP	C	C	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr15:101549212C>T	ENST00000388948.3	+	7	1292	c.933C>T	c.(931-933)gaC>gaT	p.D311D	LRRK1_ENST00000284395.5_Silent_p.D308D	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCTCTCCGACAACCACCTGG	0.637											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													54.0	55.0	55.0					15																	101549212		1946	4137	6083	-	-	-	SO:0001819	synonymous_variant	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.933C>T	15.37:g.101549212C>T		1359		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.D311	ENST00000388948.3	37	c.933	CCDS42086.1	15																																																																																			LRRK1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000154237		0.637	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	60	0.00	0	C	NM_024652		101549212	101549212	+1	no_errors	ENST00000388948	ensembl	human	known	69_37n	silent	25	34.21	13	SNP	1.000	T
MAP4K4	9448	genome.wustl.edu	37	2	102482935	102482935	+	Silent	SNP	G	G	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr2:102482935G>T	ENST00000347699.4	+	18	2016	c.2016G>T	c.(2014-2016)gtG>gtT	p.V672V	MAP4K4_ENST00000413150.2_Silent_p.V587V|MAP4K4_ENST00000456652.1_Silent_p.V471V|MAP4K4_ENST00000324219.4_Silent_p.V750V|MAP4K4_ENST00000350198.4_Silent_p.V588V|MAP4K4_ENST00000350878.4_Silent_p.V645V|MAP4K4_ENST00000425019.1_Silent_p.V641V|MAP4K4_ENST00000302217.5_Silent_p.V472V	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	672					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAAGCTGGTGCCCAGACCTG	0.572																																						dbGAP											0													55.0	60.0	58.0					2																	102482935		1926	4130	6056	-	-	-	SO:0001819	synonymous_variant	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2016G>T	2.37:g.102482935G>T			O75172|Q9NST7	Missense_Mutation	SNP	pfam_Citron,superfamily_Kinase-like_dom,smart_Citron	p.A489S	ENST00000347699.4	37	c.1465	CCDS56130.1	2	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295887	0.23564	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.67	2.74	0.32292	.	.	.	.	.	T	0.47303	0.1438	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33189	-0.9878	4	.	.	.	.	4.3743	0.11263	0.1478:0.1277:0.6001:0.1244	.	.	.	.	S	489	.	.	A	+	1	0	MAP4K4	101849367	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.453000	0.21811	0.717000	0.32145	0.561000	0.74099	GCC	MAP4K4	-	NULL	ENSG00000071054		0.572	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	69	0.00	0	G	NM_004834		102482935	102482935	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000421882	ensembl	human	novel	69_37n	missense	19	58.70	27	SNP	1.000	T
MGAM	8972	genome.wustl.edu	37	7	141763364	141763364	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr7:141763364G>A	ENST00000549489.2	+	36	4418	c.4323G>A	c.(4321-4323)ctG>ctA	p.L1441L	MGAM_ENST00000475668.2_Silent_p.L1441L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1441	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)	ACGCCTCTCTGAACCACCCTC	0.537																																						dbGAP											0													66.0	64.0	65.0					7																	141763364		1986	4148	6134	-	-	-	SO:0001819	synonymous_variant	0			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.4323G>A	7.37:g.141763364G>A			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.L1441	ENST00000549489.2	37	c.4323	CCDS47727.1	7																																																																																			MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257335		0.537	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	38	0.00	0	G			141763364	141763364	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	silent	21	36.36	12	SNP	0.998	A
MMP3	4314	genome.wustl.edu	37	11	102708128	102708128	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr11:102708128C>G	ENST00000299855.5	-	9	1490	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	412					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	CTCTTCTCATCAAATCTGTAC	0.383																																						dbGAP											0													100.0	103.0	102.0					11																	102708128		2203	4299	6502	-	-	-	SO:0001583	missense	0			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1234G>C	11.37:g.102708128C>G	ENSP00000299855:p.Asp412His		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.D412H	ENST00000299855.5	37	c.1234	CCDS8323.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.171389|4.171389	0.78452|0.78452	.|.	.|.	ENSG00000149968|ENSG00000149968	ENST00000299855|ENST00000434103	T|.	0.03496|.	3.91|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Hemopexin/matrixin (2);|.	0.000000|.	0.35677|.	N|.	0.003054|.	D|D	0.85133|0.85133	0.5627|0.5627	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.87421|0.87421	0.2382|0.2382	10|5	0.87932|.	D|.	0|.	.|.	18.8559|18.8559	0.92252|0.92252	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	412|.	P08254|.	MMP3_HUMAN|.	H|F	412|55	ENSP00000299855:D412H|.	ENSP00000299855:D412H|.	D|L	-|-	1|3	0|2	MMP3|MMP3	102213338|102213338	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.814000|0.814000	0.46013|0.46013	2.348000|2.348000	0.44045|0.44045	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GAT|TTG	MMP3	-	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat	ENSG00000149968		0.383	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	HGNC	protein_coding	OTTHUMT00000109758.2	88	0.00	0	C	NM_002422		102708128	102708128	-1	no_errors	ENST00000299855	ensembl	human	known	69_37n	missense	68	29.90	29	SNP	1.000	G
MOB1B	92597	genome.wustl.edu	37	4	71844867	71844867	+	Silent	SNP	C	C	T	rs537448770		TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr4:71844867C>T	ENST00000309395.2	+	5	633	c.432C>T	c.(430-432)ttC>ttT	p.F144F	MOB1B_ENST00000396051.2_Silent_p.F149F|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	144					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										CAAAGAATTTCATGTCTGTGG	0.418																																						dbGAP											0													149.0	148.0	148.0					4																	71844867		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.432C>T	4.37:g.71844867C>T			B2R8U6|B4DRY3|Q8IY23	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.F144	ENST00000309395.2	37	c.432	CCDS34002.1	4																																																																																			MOB1B	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000173542		0.418	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1B	HGNC	protein_coding	OTTHUMT00000362634.1	168	0.00	0	C	NM_173468		71844867	71844867	+1	no_errors	ENST00000309395	ensembl	human	known	69_37n	silent	101	37.04	60	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9062767	9062767	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr19:9062767C>G	ENST00000397910.4	-	3	24882	c.24679G>C	c.(24679-24681)Gaa>Caa	p.E8227Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8229	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTGGGTTTCTACCCAGTTG	0.458																																						dbGAP											0													97.0	92.0	94.0					19																	9062767		1956	4141	6097	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24679G>C	19.37:g.9062767C>G	ENSP00000381008:p.Glu8227Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E8227Q	ENST00000397910.4	37	c.24679	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	5.721	0.317571	0.10845	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	2.87	0.644	0.17776	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	.	.	.	B	0.24823	0.112	B	0.27076	0.076	T	0.22208	-1.0223	8	0.87932	D	0	.	4.115	0.10077	0.0:0.6152:0.244:0.1408	.	8227	B5ME49	.	Q	8227	ENSP00000381008:E8227Q	ENSP00000381008:E8227Q	E	-	1	0	MUC16	8923767	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.366000	0.20365	0.263000	0.21812	0.393000	0.25936	GAA	MUC16	-	NULL	ENSG00000181143		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	119	0.00	0	C	NM_024690		9062767	9062767	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	191	63.20	328	SNP	0.000	G
MYBPC1	4604	genome.wustl.edu	37	12	102025811	102025811	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr12:102025811G>C	ENST00000550270.1	+	6	376	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	MYBPC1_ENST00000553190.1_Missense_Mutation_p.E126Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E151Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E113Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E114Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E126Q|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E112Q|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E151Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E126Q|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E139Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E126Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E126Q|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E27Q|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E100Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E126Q			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	126	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GTACACATTTGAGATGCAGAT	0.393																																						dbGAP											0													118.0	112.0	114.0					12																	102025811		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.376G>C	12.37:g.102025811G>C	ENSP00000449702:p.Glu126Gln		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E151Q	ENST00000550270.1	37	c.451	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.424227	0.96111	.	.	ENSG00000196091	ENST00000550514;ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67698	1.0;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;1.0;-0.28	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000106	D	0.82328	0.5013	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.99;0.999;1.0;0.998;0.999;0.997;0.998;0.998;1.0;0.998;0.999	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.97;0.999;1.0;0.999;1.0;0.992;0.997;0.999;1.0;0.997;0.999	T	0.83322	-0.0017	10	0.87932	D	0	.	19.8108	0.96545	0.0:0.0:1.0:0.0	.	126;114;126;126;113;100;126;126;151;151;139	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	Q	27;100;126;126;126;113;112;151;139;126;151;126;126;114;151;27;126	ENSP00000447404:E27Q;ENSP00000448175:E100Q;ENSP00000400908:E126Q;ENSP00000388989:E126Q;ENSP00000353822:E126Q;ENSP00000376665:E113Q;ENSP00000447362:E112Q;ENSP00000354845:E151Q;ENSP00000447660:E139Q;ENSP00000447900:E126Q;ENSP00000440034:E126Q;ENSP00000446128:E126Q;ENSP00000442847:E114Q;ENSP00000354849:E151Q;ENSP00000447116:E27Q;ENSP00000449702:E126Q	ENSP00000353822:E126Q	E	+	1	0	MYBPC1	100549942	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	9.869000	0.99810	2.698000	0.92095	0.563000	0.77884	GAG	MYBPC1	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000196091		0.393	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	73	0.00	0	G			102025811	102025811	+1	no_errors	ENST00000361466	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	C
NCOA6	23054	genome.wustl.edu	37	20	33337239	33337239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr20:33337239delG	ENST00000374796.2	-	10	5329	c.2759delC	c.(2758-2760)cctfs	p.P920fs	NCOA6_ENST00000359003.2_Frame_Shift_Del_p.P920fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	920	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTTCTTCCGAGGGGGTTTCTT	0.363																																						dbGAP											0													102.0	99.0	100.0					20																	33337239		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2759delC	20.37:g.33337239delG	ENSP00000363929:p.Pro920fs		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Del	DEL	NULL	p.P920fs	ENST00000374796.2	37	c.2759	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.363	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	304	0.00	0	G	NM_014071		33337239	33337239	-1	no_errors	ENST00000359003	ensembl	human	known	69_37n	frame_shift_del	179	31.09	83	DEL	1.000	-
NPC1L1	29881	genome.wustl.edu	37	7	44579387	44579387	+	Silent	SNP	G	G	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr7:44579387G>C	ENST00000289547.4	-	2	664	c.609C>G	c.(607-609)ctC>ctG	p.L203L	NPC1L1_ENST00000381160.3_Silent_p.L203L|NPC1L1_ENST00000423141.1_Silent_p.L203L|NPC1L1_ENST00000546276.1_Silent_p.L203L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	203					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCTGGAAGTTGAGCCAGCGCT	0.637																																						dbGAP											0													90.0	77.0	81.0					7																	44579387		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.609C>G	7.37:g.44579387G>C			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	pfam_Patched,pfscan_SSD	p.L203	ENST00000289547.4	37	c.609	CCDS5491.1	7																																																																																			NPC1L1	-	NULL	ENSG00000015520		0.637	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	36	0.00	0	G	NM_013389		44579387	44579387	-1	no_errors	ENST00000289547	ensembl	human	known	69_37n	silent	14	33.33	7	SNP	1.000	C
NTRK3	4916	genome.wustl.edu	37	15	88671941	88671941	+	Splice_Site	SNP	C	C	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr15:88671941C>A	ENST00000360948.2	-	10	1390		c.e10+1		NTRK3_ENST00000317501.3_Splice_Site|NTRK3_ENST00000558306.1_5'Flank|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000355254.2_Splice_Site|NTRK3_ENST00000540489.2_Splice_Site|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000542733.2_Splice_Site|NTRK3_ENST00000394480.2_Splice_Site	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCAGACTTACACAAGATAAA	0.358			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												dbGAP		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													85.0	85.0	85.0					15																	88671941		2201	4299	6500	-	-	-	SO:0001630	splice_region_variant	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1228+1G>T	15.37:g.88671941C>A			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Splice_Site	SNP	-	e9+1	ENST00000360948.2	37	c.1228+1	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928555	0.73327	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.327	0.82987	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NTRK3	86472945	1.000000	0.71417	0.957000	0.39632	0.977000	0.68977	4.314000	0.59166	2.525000	0.85131	0.655000	0.94253	.	NTRK3	-	-	ENSG00000140538		0.358	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		119	0.00	0	C		Intron	88671941	88671941	-1	no_errors	ENST00000360948	ensembl	human	known	69_37n	splice_site	64	28.89	26	SNP	0.993	A
NUP188	23511	genome.wustl.edu	37	9	131721088	131721088	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr9:131721088A>C	ENST00000372577.2	+	7	401	c.380A>C	c.(379-381)gAt>gCt	p.D127A		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	127					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGATTGCAGATTATTATTAT	0.343																																						dbGAP											0													76.0	72.0	74.0					9																	131721088		2203	4299	6502	-	-	-	SO:0001583	missense	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.380A>C	9.37:g.131721088A>C	ENSP00000361658:p.Asp127Ala		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.D127A	ENST00000372577.2	37	c.380	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	A	18.48	3.633938	0.67130	.	.	ENSG00000095319	ENST00000372577	T	0.33216	1.42	5.41	4.27	0.50696	.	0.043793	0.85682	D	0.000000	T	0.28267	0.0698	L	0.34521	1.04	0.58432	D	0.999999	P	0.41420	0.749	P	0.45753	0.492	T	0.02115	-1.1211	10	0.31617	T	0.26	-1.0E-4	10.6515	0.45651	0.9248:0.0:0.0752:0.0	.	127	Q5SRE5	NU188_HUMAN	A	127	ENSP00000361658:D127A	ENSP00000361658:D127A	D	+	2	0	NUP188	130760909	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.785000	0.91822	1.013000	0.39391	0.402000	0.26972	GAT	NUP188	-	pfam_Nucleoporin_Nup188	ENSG00000095319		0.343	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	112	0.00	0	A			131721088	131721088	+1	no_errors	ENST00000372577	ensembl	human	known	69_37n	missense	100	26.47	36	SNP	1.000	C
PCDH11X	27328	genome.wustl.edu	37	X	91090834	91090834	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chrX:91090834G>C	ENST00000373094.1	+	1	1176	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	PCDH11X_ENST00000373088.1_Missense_Mutation_p.E111Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.E111Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.E111Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.E111Q|PCDH11X_ENST00000504220.2_Missense_Mutation_p.E111Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.E111Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.E111Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.E111Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTATGAAGTGGAGGTTGCCAT	0.403																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													96.0	87.0	90.0					X																	91090834		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.331G>C	X.37:g.91090834G>C	ENSP00000362186:p.Glu111Gln		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E111Q	ENST00000373094.1	37	c.331	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812294	0.70912	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	4.44	4.44	0.53790	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.80422	2.495	0.50171	D	0.99985	D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.976;0.999;0.999;0.999;1.0;0.999;0.999	T	0.65311	-0.6199	10	0.87932	D	0	.	15.4133	0.74943	0.0:0.0:1.0:0.0	.	111;111;111;111;111;111;111;111	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Q	111	ENSP00000378746:E111Q;ENSP00000362186:E111Q;ENSP00000362189:E111Q;ENSP00000355040:E111Q;ENSP00000362180:E111Q;ENSP00000423762:E111Q;ENSP00000355105:E111Q;ENSP00000384758:E111Q;ENSP00000298274:E111Q	ENSP00000298274:E111Q	E	+	1	0	PCDH11X	90977490	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.825000	0.92029	2.173000	0.68751	0.506000	0.49869	GAG	PCDH11X	-	pfam_Cadherin_N,pfscan_Cadherin	ENSG00000102290		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	240	0.00	0	G	NM_032969		91090834	91090834	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	missense	142	30.39	62	SNP	1.000	C
PCDHGB4	8641	genome.wustl.edu	37	5	140769441	140769441	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr5:140769441G>A	ENST00000519479.1	+	1	1990	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTCGCCGACAGCTTGCA	0.652																																						dbGAP											0													96.0	104.0	101.0					5																	140769441		2157	4259	6416	-	-	-	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1990G>A	5.37:g.140769441G>A	ENSP00000428288:p.Asp664Asn		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D664N	ENST00000519479.1	37	c.1990	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	16.53	3.148886	0.57151	.	.	ENSG00000253953	ENST00000519479	T	0.53640	0.61	5.5	5.5	0.81552	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.71846	0.3388	M	0.86573	2.825	0.32174	N	0.581314	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.78588	-0.2146	9	0.52906	T	0.07	.	13.3619	0.60661	0.076:0.0:0.924:0.0	.	664;664	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	N	664	ENSP00000428288:D664N	ENSP00000428288:D664N	D	+	1	0	PCDHGB4	140749625	1.000000	0.71417	0.947000	0.38551	0.033000	0.12548	6.994000	0.76251	2.584000	0.87258	0.563000	0.77884	GAC	PCDHGB4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.652	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	60	0.00	0	G	NM_003736		140769441	140769441	+1	no_errors	ENST00000519479	ensembl	human	known	69_37n	missense	39	27.78	15	SNP	0.998	A
PDE4C	5143	genome.wustl.edu	37	19	18321933	18321933	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr19:18321933C>T	ENST00000355502.3	-	19	2816	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	PDE4C_ENST00000262805.12_Missense_Mutation_p.E617K|PDE4C_ENST00000594465.3_Missense_Mutation_p.E649K|PDE4C_ENST00000539010.1_Missense_Mutation_p.E418K|AC068499.10_ENST00000594805.3_RNA|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.E649K|PDE4C_ENST00000447275.3_Missense_Mutation_p.E543K|PDE4C_ENST00000598111.2_Missense_Mutation_p.E364K|PDE4C_ENST00000597297.1_Missense_Mutation_p.E419K			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	649					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CCGTCCCGCTCGGGGTTGGTG	0.587																																						dbGAP											0													126.0	108.0	114.0					19																	18321933		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1945G>A	19.37:g.18321933C>T	ENSP00000347689:p.Glu649Lys		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.E649K	ENST00000355502.3	37	c.1945	CCDS12373.1	19	.	.	.	.	.	.	.	.	.	.	C	5.983	0.365234	0.11352	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	3.51	-2.01	0.07410	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	4.297340	0.00923	N	0.002601	T	0.50531	0.1621	N	0.20574	0.59	0.09310	N	1	B;B;B;B	0.12013	0.002;0.001;0.005;0.003	B;B;B;B	0.10450	0.001;0.005;0.004;0.001	T	0.31641	-0.9936	10	0.21014	T	0.42	.	9.0536	0.36392	0.0:0.295:0.5982:0.1067	.	649;617;455;364	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	K	728;649;637;617;543;455;363;418;758	ENSP00000347689:E649K;ENSP00000262805:E617K;ENSP00000402091:E543K;ENSP00000439470:E418K	ENSP00000262805:E617K	E	-	1	0	PDE4C	18182933	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.102000	0.10956	-0.082000	0.12640	0.555000	0.69702	GAG	PDE4C	-	NULL	ENSG00000105650		0.587	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	59	0.00	0	C			18321933	18321933	-1	no_errors	ENST00000355502	ensembl	human	known	69_37n	missense	15	65.96	31	SNP	0.000	T
PGK1	5230	genome.wustl.edu	37	X	77373596	77373596	+	Missense_Mutation	SNP	G	G	A	rs431905502		TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chrX:77373596G>A	ENST00000373316.4	+	6	737	c.570G>A	c.(568-570)atG>atA	p.M190I	PGK1_ENST00000537456.1_Missense_Mutation_p.M162I|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	190					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GGTTTTTGATGAAGAAGGAGC	0.473																																						dbGAP											0													140.0	127.0	131.0					X																	77373596		2203	4296	6499	-	-	-	SO:0001583	missense	0			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.570G>A	X.37:g.77373596G>A	ENSP00000362413:p.Met190Ile		A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.M190I	ENST00000373316.4	37	c.570	CCDS14438.1	X	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171832	0.57584	.	.	ENSG00000102144	ENST00000373316;ENST00000450919;ENST00000537456	D;D	0.92752	-3.1;-3.1	4.7	4.7	0.59300	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93284	0.7860	M	0.81497	2.545	0.52501	D	0.999955	P	0.39551	0.678	P	0.44394	0.448	D	0.93126	0.6529	10	0.39692	T	0.17	-27.2381	16.0057	0.80362	0.0:0.0:1.0:0.0	.	190	P00558	PGK1_HUMAN	I	190;15;162	ENSP00000362413:M190I;ENSP00000444708:M162I	ENSP00000362413:M190I	M	+	3	0	PGK1	77260252	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	9.758000	0.98927	2.059000	0.61396	0.436000	0.28706	ATG	PGK1	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	ENSG00000102144		0.473	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	196	0.00	0	G			77373596	77373596	+1	no_errors	ENST00000373316	ensembl	human	known	69_37n	missense	121	36.32	69	SNP	1.000	A
PKP4	8502	genome.wustl.edu	37	2	159481540	159481540	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr2:159481540G>A	ENST00000389759.3	+	7	866	c.754G>A	c.(754-756)Gac>Aac	p.D252N	PKP4_ENST00000389757.3_Missense_Mutation_p.D252N	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	252					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GTCAGTGACCGACCCCCGACC	0.562										HNSCC(62;0.18)																												dbGAP											0													91.0	94.0	93.0					2																	159481540		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.754G>A	2.37:g.159481540G>A	ENSP00000374409:p.Asp252Asn		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D252N	ENST00000389759.3	37	c.754	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397636	0.83120	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.74106	-0.81;-0.8	6.16	6.16	0.99307	.	0.610030	0.18379	N	0.143040	T	0.70815	0.3267	N	0.22421	0.69	0.54753	D	0.999985	P;P;P;P	0.48350	0.853;0.854;0.881;0.909	B;B;B;P	0.45794	0.359;0.295;0.205;0.493	T	0.73026	-0.4112	10	0.59425	D	0.04	-18.8656	20.8598	0.99761	0.0:0.0:1.0:0.0	.	104;252;252;104	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	N	104;252;252	ENSP00000374407:D252N;ENSP00000374409:D252N	ENSP00000374407:D252N	D	+	1	0	PKP4	159189786	1.000000	0.71417	0.979000	0.43373	0.945000	0.59286	6.987000	0.76206	2.937000	0.99478	0.650000	0.86243	GAC	PKP4	-	NULL	ENSG00000144283		0.562	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	173	0.57	1	G			159481540	159481540	+1	no_errors	ENST00000389759	ensembl	human	known	69_37n	missense	30	71.70	76	SNP	1.000	A
PLCL2	23228	genome.wustl.edu	37	3	17052803	17052803	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr3:17052803G>A	ENST00000418129.2	+	2	2052	c.1587G>A	c.(1585-1587)aaG>aaA	p.K529K	PLCL2_ENST00000396755.2_Silent_p.K529K|PLCL2_ENST00000432376.1_Silent_p.K529K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	655	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTGCCAGCAAGTACGCCAATG	0.403																																						dbGAP											0													102.0	106.0	105.0					3																	17052803		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1587G>A	3.37:g.17052803G>A			A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S273N	ENST00000418129.2	37	c.818	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	G	2.742	-0.261929	0.05791	.	.	ENSG00000154822	ENST00000419842	.	.	.	5.63	0.352	0.16051	.	.	.	.	.	T	0.56863	0.2014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48854	-0.8998	4	.	.	.	.	9.3428	0.38089	0.7065:0.0:0.2935:0.0	.	.	.	.	N	273	.	.	S	+	2	0	PLCL2	17027807	0.182000	0.23173	0.973000	0.42090	0.938000	0.57974	-0.241000	0.08940	-0.160000	0.11002	-0.355000	0.07637	AGT	PLCL2	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000154822		0.403	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	215	0.00	0	G			17052803	17052803	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419842	ensembl	human	putative	69_37n	missense	109	33.13	54	SNP	0.998	A
PODN	127435	genome.wustl.edu	37	1	53544159	53544159	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:53544159C>T	ENST00000312553.5	+	8	1128	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	PODN_ENST00000395871.2_Missense_Mutation_p.A232V|PODN_ENST00000371500.3_Missense_Mutation_p.A355V|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	326					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCGTGGACGCGAATGTGCTG	0.652																																						dbGAP											0													58.0	56.0	57.0					1																	53544159		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1121C>T	1.37:g.53544159C>T	ENSP00000308315:p.Ala374Val		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.A374V	ENST00000312553.5	37	c.1121	CCDS573.1	1	.	.	.	.	.	.	.	.	.	.	C	9.649	1.141071	0.21205	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.58060	0.36;0.36;0.36	4.98	4.98	0.66077	.	0.233635	0.43747	D	0.000537	T	0.36468	0.0968	L	0.41573	1.285	0.24627	N	0.993647	P;B;B	0.41929	0.765;0.085;0.161	B;B;B	0.32624	0.149;0.038;0.131	T	0.42699	-0.9436	10	0.45353	T	0.12	.	8.1409	0.31082	0.2715:0.5702:0.1583:0.0	.	232;355;374	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	V	355;232;374	ENSP00000360555:A355V;ENSP00000379212:A232V;ENSP00000308315:A374V	ENSP00000308315:A374V	A	+	2	0	PODN	53316747	0.721000	0.28007	0.962000	0.40283	0.117000	0.20001	1.691000	0.37721	2.575000	0.86900	0.555000	0.69702	GCG	PODN	-	NULL	ENSG00000174348		0.652	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	HGNC	protein_coding	OTTHUMT00000024735.1	22	0.00	0	C	NM_153703		53544159	53544159	+1	no_errors	ENST00000312553	ensembl	human	known	69_37n	missense	7	82.05	32	SNP	0.624	T
PRDM1	639	genome.wustl.edu	37	6	106553664	106553664	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr6:106553664C>A	ENST00000369096.4	+	5	1863	c.1629C>A	c.(1627-1629)agC>agA	p.S543R	PRDM1_ENST00000369091.2_Missense_Mutation_p.S507R|PRDM1_ENST00000369089.3_Missense_Mutation_p.S409R	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	543	Interaction with PIAS1.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCCCAGCAGCGACGAAGCCA	0.562			"""D, N, Mis, F, S"""		DLBCL																																	dbGAP		Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	0													46.0	49.0	48.0					6																	106553664		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1629C>A	6.37:g.106553664C>A	ENSP00000358092:p.Ser543Arg		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.S543R	ENST00000369096.4	37	c.1629	CCDS5054.2	6	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490138	0.26686	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.08370	3.12;3.11;3.1	5.74	-7.81	0.01210	.	0.328980	0.44688	D	0.000434	T	0.02380	0.0073	L	0.36672	1.1	0.22880	N	0.998615	B;B	0.16802	0.008;0.019	B;B	0.21360	0.021;0.034	T	0.25082	-1.0142	10	0.56958	D	0.05	-3.214	17.7347	0.88389	0.0:0.1967:0.0:0.8033	.	409;543	Q86WM7;O75626	.;PRDM1_HUMAN	R	507;543;506;409	ENSP00000358087:S507R;ENSP00000358092:S543R;ENSP00000358085:S409R	ENSP00000358085:S409R	S	+	3	2	PRDM1	106660357	0.000000	0.05858	0.006000	0.13384	0.711000	0.40976	-0.443000	0.06862	-1.383000	0.02106	-0.150000	0.13652	AGC	PRDM1	-	pirsf_Znf_PRDM1	ENSG00000057657		0.562	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	61	0.00	0	C			106553664	106553664	+1	no_errors	ENST00000369096	ensembl	human	known	69_37n	missense	127	16.45	25	SNP	0.067	A
PRDX1	5052	genome.wustl.edu	37	1	45980571	45980572	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:45980571_45980572insA	ENST00000262746.1	-	4	695_696	c.356_357insT	c.(355-357)ttafs	p.L119fs	PRDX1_ENST00000319248.8_Frame_Shift_Ins_p.L119fs|PRDX1_ENST00000483583.1_5'Flank|PRDX1_ENST00000372079.1_Intron	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	119	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CATCAGCCTTTAAGACCCCATA	0.465																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.357dupT	1.37:g.45980573_45980573dupA	ENSP00000262746:p.Leu119fs		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Frame_Shift_Ins	INS	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.L119fs	ENST00000262746.1	37	c.357_356	CCDS522.1	1																																																																																			PRDX1	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000117450		0.465	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX1	HGNC	protein_coding	OTTHUMT00000020845.1	140	0.00	0	-	NM_181697		45980571	45980572	-1	no_errors	ENST00000262746	ensembl	human	known	69_37n	frame_shift_ins	67	37.96	41	INS	1.000:1.000	A
PRKAA1	5562	genome.wustl.edu	37	5	40775557	40775557	+	Silent	SNP	A	A	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr5:40775557A>G	ENST00000397128.2	-	3	326	c.318T>C	c.(316-318)taT>taC	p.Y106Y	PRKAA1_ENST00000296800.4_Silent_p.Y97Y|PRKAA1_ENST00000354209.3_Silent_p.Y106Y	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CTCCTGAGACATATTCCATCA	0.343																																						dbGAP											0													118.0	109.0	112.0					5																	40775557		1847	4083	5930	-	-	-	SO:0001819	synonymous_variant	0				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.318T>C	5.37:g.40775557A>G			A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y106	ENST00000397128.2	37	c.318	CCDS3932.2	5																																																																																			PRKAA1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000132356		0.343	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA1	HGNC	protein_coding	OTTHUMT00000253833.2	150	0.00	0	A	NM_006251		40775557	40775557	-1	no_errors	ENST00000354209	ensembl	human	known	69_37n	silent	99	42.77	74	SNP	1.000	G
PRKRIR	5612	genome.wustl.edu	37	11	76063702	76063704	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr11:76063702_76063704delTTC	ENST00000260045.3	-	5	595_597	c.490_492delGAA	c.(490-492)gaadel	p.E164del	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	164					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ATTTTAGGTATTCTTTGTTTTCC	0.414																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.490_492delGAA	11.37:g.76063702_76063704delTTC	ENSP00000260045:p.Glu164del		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	In_Frame_Del	DEL	pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E164in_frame_del	ENST00000260045.3	37	c.492_490	CCDS8243.1	11																																																																																			PRKRIR	-	NULL	ENSG00000137492		0.414	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1	131	0.00	0	TTC	NM_004705		76063702	76063704	-1	no_errors	ENST00000260045	ensembl	human	known	69_37n	in_frame_del	100	28.37	40	DEL	0.895:0.999:1.000	-
PTBP3	9991	genome.wustl.edu	37	9	115030409	115030409	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr9:115030409G>C	ENST00000374255.2	-	5	502	c.355C>G	c.(355-357)Cct>Gct	p.P119A	PTBP3_ENST00000374257.1_Missense_Mutation_p.P91A|PTBP3_ENST00000334318.6_Missense_Mutation_p.P122A|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000458258.1_Missense_Mutation_p.P125A|PTBP3_ENST00000343327.2_Missense_Mutation_p.P24A			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	119	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CGAAGGTGAGGAGTAATAGGA	0.373																																						dbGAP											0													100.0	97.0	98.0					9																	115030409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.355C>G	9.37:g.115030409G>C	ENSP00000363373:p.Pro119Ala		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.P125A	ENST00000374255.2	37	c.373	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916034	0.52546	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327;ENST00000210227	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.48	4.57	0.56435	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.80727	0.4678	L	0.51422	1.61	0.80722	D	1	B;B;P;D;B;B	0.89917	0.046;0.086;0.571;1.0;0.17;0.066	B;B;B;D;B;B	0.85130	0.219;0.121;0.272;0.997;0.219;0.06	T	0.76252	-0.3027	10	0.08599	T	0.76	-7.4385	16.2354	0.82371	0.0:0.1333:0.8667:0.0	.	91;91;24;122;119;125	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	A	91;122;125;119;24;125	ENSP00000363375:P91A;ENSP00000334499:P122A;ENSP00000414921:P125A;ENSP00000363373:P119A;ENSP00000340705:P24A;ENSP00000210227:P125A	ENSP00000210227:P125A	P	-	1	0	ROD1	114070230	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.578000	0.82498	1.277000	0.44412	-0.181000	0.13052	CCT	PTBP3	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000119314		0.373	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	211	0.00	0	G			115030409	115030409	-1	no_errors	ENST00000458258	ensembl	human	known	69_37n	missense	171	23.32	52	SNP	1.000	C
R3HDM2	22864	genome.wustl.edu	37	12	57660598	57660598	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr12:57660598G>A	ENST00000347140.3	-	19	2395	c.2005C>T	c.(2005-2007)Ctg>Ttg	p.L669L	R3HDM2_ENST00000402412.1_Silent_p.L683L|R3HDM2_ENST00000441731.2_Silent_p.L364L|R3HDM2_ENST00000358907.2_Silent_p.L669L|R3HDM2_ENST00000403821.2_Silent_p.L703L|R3HDM2_ENST00000413953.2_Silent_p.L396L|R3HDM2_ENST00000546843.1_5'UTR|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	669	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGGGGTTGCAGAAACCCTACA	0.552																																						dbGAP											0													74.0	57.0	62.0					12																	57660598		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2005C>T	12.37:g.57660598G>A			Q2M1T9|Q3ZCT5	Silent	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.L669	ENST00000347140.3	37	c.2005	CCDS8937.2	12																																																																																			R3HDM2	-	NULL	ENSG00000179912		0.552	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	18	0.00	0	G	NM_014925		57660598	57660598	-1	no_errors	ENST00000347140	ensembl	human	known	69_37n	silent	18	53.85	21	SNP	1.000	A
RBM26	64062	genome.wustl.edu	37	13	79932554	79932554	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr13:79932554C>G	ENST00000438737.2	-	11	1984	c.1544G>C	c.(1543-1545)aGa>aCa	p.R515T	RBM26_ENST00000267229.7_Missense_Mutation_p.R515T|RBM26_ENST00000438724.1_Missense_Mutation_p.R515T			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	515					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GCTGTTTGTTCTATTAAAATT	0.303																																						dbGAP											0													54.0	57.0	56.0					13																	79932554		2199	4299	6498	-	-	-	SO:0001583	missense	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1544G>C	13.37:g.79932554C>G	ENSP00000387531:p.Arg515Thr		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.R515T	ENST00000438737.2	37	c.1544		13	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503601	0.44558	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.47528	0.86;0.84	5.23	5.23	0.72850	.	0.225078	0.47093	D	0.000245	T	0.36082	0.0954	N	0.14661	0.345	0.50467	D	0.99987	P;P;P	0.42248	0.774;0.664;0.774	B;B;B	0.41723	0.365;0.201;0.365	T	0.11494	-1.0585	9	.	.	.	-16.8218	19.1705	0.93575	0.0:1.0:0.0:0.0	.	515;515;515	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	T	515;516;515;515	ENSP00000267229:R515T;ENSP00000390222:R515T	.	R	-	2	0	RBM26	78830555	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.070000	0.57548	2.584000	0.87258	0.467000	0.42956	AGA	RBM26	-	NULL	ENSG00000139746		0.303	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	194	0.51	1	C	NM_022118		79932554	79932554	-1	no_errors	ENST00000327303	ensembl	human	known	69_37n	missense	50	61.24	79	SNP	1.000	G
RHOXF2	84528	genome.wustl.edu	37	X	119292962	119292962	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chrX:119292962G>C	ENST00000371388.3	+	2	311	c.121G>C	c.(121-123)Gag>Cag	p.E41Q		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	41					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						AGAGGTCAAAGAGGAGGAAGA	0.507																																						dbGAP											0													3.0	4.0	4.0					X																	119292962		884	2121	3005	-	-	-	SO:0001583	missense	0				CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"""Homeoboxes / PRD class"""	30011	protein-coding gene	gene with protein product	"""cancer/testis antigen 107"""	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.121G>C	X.37:g.119292962G>C	ENSP00000360441:p.Glu41Gln		Q9BR00	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E41Q	ENST00000371388.3	37	c.121	CCDS14594.1	X	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639333	0.14386	.	.	ENSG00000131721	ENST00000371388	D	0.91792	-2.91	2.26	-0.848	0.10727	.	.	.	.	.	D	0.82379	0.5024	N	0.14661	0.345	0.09310	N	1	P	0.50528	0.936	P	0.45343	0.477	T	0.74131	-0.3764	9	0.39692	T	0.17	0.0013	2.3496	0.04280	0.321:0.0:0.4423:0.2367	.	41	Q9BQY4	RHXF2_HUMAN	Q	41	ENSP00000360441:E41Q	ENSP00000360441:E41Q	E	+	1	0	RHOXF2	119176990	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.050000	0.14120	-0.386000	0.07821	-1.616000	0.00795	GAG	RHOXF2	-	NULL	ENSG00000131721		0.507	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOXF2	HGNC	protein_coding	OTTHUMT00000411977.1	50	0.00	0	G	NM_032498		119292962	119292962	+1	no_errors	ENST00000371388	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.000	C
SAA3P	6290	genome.wustl.edu	37	11	18134218	18134218	+	RNA	SNP	C	C	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr11:18134218C>G	ENST00000534768.1	-	0	442					NR_026576.1				serum amyloid A3 pseudogene											lung(2)	2						CTTTGCCACTCTGGCCCCATT	0.567																																						dbGAP											0																																										-	-	-			0			S73444		11p15.1	2014-06-05			ENSG00000166787	ENSG00000166787			10515	pseudogene	pseudogene				SAA3		8325654, 2558975	Standard	NR_026576		Approved		uc001mnt.3		OTTHUMG00000166433		11.37:g.18134218C>G				RNA	SNP	-	NULL	ENST00000534768.1	37	NULL		11																																																																																			SAA3P	-	-	ENSG00000166787		0.567	SAA3P-002	KNOWN	basic	processed_transcript	SAA3P	HGNC	pseudogene	OTTHUMT00000389765.1	42	0.00	0	C			18134218	18134218	-1	no_errors	ENST00000534768	ensembl	human	known	69_37n	rna	22	35.29	12	SNP	0.998	G
SENP5	205564	genome.wustl.edu	37	3	196613257	196613257	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr3:196613257A>C	ENST00000323460.5	+	2	1454	c.1205A>C	c.(1204-1206)cAg>cCg	p.Q402P	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.Q402P	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	402					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CAGGAAAATCAGACAAGTTCT	0.428																																					Ovarian(47;891 1095 11174 13858 51271)	dbGAP											0													84.0	88.0	86.0					3																	196613257		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1205A>C	3.37:g.196613257A>C	ENSP00000327197:p.Gln402Pro		B4DY82|Q96SA5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.Q402P	ENST00000323460.5	37	c.1205	CCDS3322.1	3	.	.	.	.	.	.	.	.	.	.	A	0.528	-0.859232	0.02610	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.36340	1.26;1.26	5.4	-3.1	0.05315	.	0.858452	0.10051	N	0.722185	T	0.22044	0.0531	N	0.24115	0.695	0.09310	N	1	B;B	0.24533	0.0;0.105	B;B	0.19666	0.0;0.026	T	0.21348	-1.0248	10	0.28530	T	0.3	6.0533	11.8621	0.52471	0.5948:0.0:0.4052:0.0	.	402;402	B4DY82;Q96HI0	.;SENP5_HUMAN	P	402	ENSP00000327197:Q402P;ENSP00000390231:Q402P	ENSP00000327197:Q402P	Q	+	2	0	SENP5	198097654	0.001000	0.12720	0.013000	0.15412	0.152000	0.21847	-0.647000	0.05397	-0.469000	0.06911	-0.763000	0.03452	CAG	SENP5	-	NULL	ENSG00000119231		0.428	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP5	HGNC	protein_coding	OTTHUMT00000340524.1	122	0.00	0	A	NM_152699		196613257	196613257	+1	no_errors	ENST00000323460	ensembl	human	known	69_37n	missense	94	35.17	51	SNP	0.001	C
SETDB1	9869	genome.wustl.edu	37	1	150917623	150917624	+	Intron	INS	-	-	G	rs587715611|rs587751384|rs186820437	byFrequency	TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:150917623_150917624insG	ENST00000271640.5	+	9	1330				SETDB1_ENST00000368962.2_Frame_Shift_Ins_p.G394fs|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGGTTGGTGGGGGGGGAAC	0.475																																						dbGAP											0									,	53,4213		1,51,2081					,	-6.3	0.0			32	26,8228		0,26,4101	no	intron,intron	SETDB1	NM_012432.3,NM_001145415.1	,	1,77,6182	A1A1,A1R,RR		0.315,1.2424,0.631	,	,		79,12441				-	-	-	SO:0001627	intron_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1140+39->G	1.37:g.150917631_150917631dupG			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	smart_Tudor	p.T396fs	ENST00000271640.5	37	c.1179_1180	CCDS44217.1	1																																																																																			SETDB1	-	NULL	ENSG00000143379		0.475	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	42	0.00	0	-			150917623	150917624	+1	no_errors	ENST00000368962	ensembl	human	known	69_37n	frame_shift_ins	42	12.50	6	INS	0.000:0.000	G
SETMAR	6419	genome.wustl.edu	37	3	4355372	4355372	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr3:4355372G>C	ENST00000358065.4	+	2	1014	c.947G>C	c.(946-948)gGa>gCa	p.G316A	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.G316A|SETMAR_ENST00000425863.1_Missense_Mutation_p.G177A	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	316	Histone-lysine N-methyltransferase.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATCAGTTGTGGAAATGAGAAG	0.488								Chromatin Structure																														dbGAP											0													108.0	97.0	101.0					3																	4355372		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.947G>C	3.37:g.4355372G>C	ENSP00000373354:p.Gly316Ala		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.G316A	ENST00000358065.4	37	c.947	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318574	0.23994	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863;ENST00000358950	D;D;T	0.94828	-3.51;-3.53;0.57	4.35	-0.389	0.12455	.	.	.	.	.	D	0.84424	0.5469	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.31893	0.292;0.345;0.147;0.012;0.015	B;B;B;B;B	0.32533	0.147;0.055;0.028;0.001;0.007	T	0.76699	-0.2863	9	0.59425	D	0.04	.	2.8596	0.05583	0.4338:0.0:0.3603:0.2059	.	60;177;303;61;316	B4DND2;E7EN68;Q53H47;Q96H41;C9JHK2	.;.;SETMR_HUMAN;.;.	A	316;316;177;80	ENSP00000373354:G316A;ENSP00000403000:G316A;ENSP00000403145:G177A	ENSP00000373354:G316A	G	+	2	0	SETMAR	4330372	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.160000	0.16462	-0.025000	0.13918	-0.140000	0.14226	GGA	SETMAR	-	NULL	ENSG00000170364		0.488	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	111	0.00	0	G	NM_006515		4355372	4355372	+1	no_errors	ENST00000358065	ensembl	human	known	69_37n	missense	52	30.67	23	SNP	0.000	C
SETX	23064	genome.wustl.edu	37	9	135156918	135156918	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr9:135156918T>C	ENST00000224140.5	-	20	6772	c.6590A>G	c.(6589-6591)cAt>cGt	p.H2197R	SETX_ENST00000393220.1_Missense_Mutation_p.H2197R|SETX_ENST00000372169.2_Missense_Mutation_p.H2197R	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2197					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATTGCAGCGATGGATGAGTGG	0.403																																						dbGAP											0			GRCh37	CM066228	SETX	M							124.0	115.0	118.0					9																	135156918		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6590A>G	9.37:g.135156918T>C	ENSP00000224140:p.His2197Arg		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.H2197R	ENST00000224140.5	37	c.6590	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321981	0.81580	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.56	5.56	0.83823	.	1.563110	0.03695	N	0.247769	D	0.87140	0.6103	L	0.31845	0.965	0.43179	D	0.994998	B;D;D	0.61697	0.259;0.99;0.963	P;D;P	0.68192	0.598;0.956;0.833	T	0.73219	-0.4052	10	0.66056	D	0.02	.	14.907	0.70727	0.0:0.0:0.0:1.0	.	2197;2197;2197	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	R	2197;439;2197;2197	ENSP00000224140:H2197R;ENSP00000409143:H439R;ENSP00000361242:H2197R;ENSP00000376913:H2197R	ENSP00000224140:H2197R	H	-	2	0	SETX	134146739	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.338000	0.72963	2.123000	0.65237	0.528000	0.53228	CAT	SETX	-	NULL	ENSG00000107290		0.403	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	154	0.00	0	T	NM_015046		135156918	135156918	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	missense	64	44.35	51	SNP	1.000	C
SH2D2A	9047	genome.wustl.edu	37	1	156784032	156784032	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:156784032G>A	ENST00000368199.3	-	4	516	c.363C>T	c.(361-363)ttC>ttT	p.F121F	NTRK1_ENST00000392302.2_5'Flank|SH2D2A_ENST00000368198.3_Silent_p.F103F|SH2D2A_ENST00000495306.1_5'Flank|SH2D2A_ENST00000392306.2_Silent_p.F131F	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	121	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCTCTCGCTGAACCGCACCA	0.692																																						dbGAP											0													33.0	32.0	32.0					1																	156784032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.363C>T	1.37:g.156784032G>A			O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.F131	ENST00000368199.3	37	c.393	CCDS1159.1	1																																																																																			SH2D2A	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000027869		0.692	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	HGNC	protein_coding	OTTHUMT00000098982.1	18	0.00	0	G	NM_003975		156784032	156784032	-1	no_errors	ENST00000392306	ensembl	human	known	69_37n	silent	11	38.89	7	SNP	1.000	A
SH2D2A	9047	genome.wustl.edu	37	1	156784112	156784112	+	Intron	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:156784112G>A	ENST00000368199.3	-	4	462				NTRK1_ENST00000392302.2_5'Flank|SH2D2A_ENST00000368198.3_Intron|SH2D2A_ENST00000495306.1_5'Flank|SH2D2A_ENST00000392306.2_Missense_Mutation_p.R105W	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGAGGGGGCCGAACCCTGCTC	0.642																																						dbGAP											0													19.0	18.0	18.0					1																	156784112		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.309-26C>T	1.37:g.156784112G>A			O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.R105W	ENST00000368199.3	37	c.313	CCDS1159.1	1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027680	0.35797	.	.	ENSG00000027869	ENST00000392306	T	0.48201	0.82	3.87	2.95	0.34219	.	.	.	.	.	T	0.12220	0.0297	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	P	0.44561	0.453	T	0.02567	-1.1140	8	.	.	.	10.753	7.4493	0.27229	0.1206:0.0:0.8794:0.0	.	105	Q9NP31-2	.	W	105	ENSP00000376123:R105W	.	R	-	1	2	SH2D2A	155050736	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.199000	0.17237	0.957000	0.37930	0.561000	0.74099	CGG	SH2D2A	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000027869		0.642	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	HGNC	protein_coding	OTTHUMT00000098982.1	15	0.00	0	G	NM_003975		156784112	156784112	-1	no_errors	ENST00000392306	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.001	A
SPTA1	6708	genome.wustl.edu	37	1	158641868	158641868	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr1:158641868C>A	ENST00000368147.4	-	11	1649	c.1469G>T	c.(1468-1470)aGt>aTt	p.S490I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	490					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTCATCCAACTGTCCACTTG	0.498																																						dbGAP											0													138.0	136.0	136.0					1																	158641868		2001	4163	6164	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1469G>T	1.37:g.158641868C>A	ENSP00000357129:p.Ser490Ile		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S490I	ENST00000368147.4	37	c.1469	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742757	0.69418	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53423	0.62;0.62	5.0	4.09	0.47781	.	0.000000	0.37348	N	0.002132	T	0.55097	0.1899	M	0.80183	2.485	0.40525	D	0.980878	D	0.63046	0.992	D	0.71184	0.972	T	0.61637	-0.7022	10	0.62326	D	0.03	.	6.5663	0.22513	0.0:0.7351:0.0:0.2649	.	490	P02549	SPTA1_HUMAN	I	490	ENSP00000357130:S490I;ENSP00000357129:S490I	ENSP00000357129:S490I	S	-	2	0	SPTA1	156908492	1.000000	0.71417	0.960000	0.40013	0.979000	0.70002	4.156000	0.58138	1.335000	0.45486	0.655000	0.94253	AGT	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	77	0.00	0	C	NM_003126		158641868	158641868	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	65	27.78	25	SNP	0.993	A
TRIML1	339976	genome.wustl.edu	37	4	189068190	189068190	+	Silent	SNP	C	C	T			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr4:189068190C>T	ENST00000332517.3	+	6	1211	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	357	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGTGGGCATCTGCAAGGACT	0.532																																					Melanoma(31;213 1036 16579 23968 32372)	dbGAP											0													89.0	90.0	90.0					4																	189068190		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1071C>T	4.37:g.189068190C>T			Q96BE5	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.I357	ENST00000332517.3	37	c.1071	CCDS3851.1	4																																																																																			TRIML1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000184108		0.532	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1	38	0.00	0	C	NM_178556		189068190	189068190	+1	no_errors	ENST00000332517	ensembl	human	known	69_37n	silent	64	41.82	46	SNP	0.984	T
TSHR	7253	genome.wustl.edu	37	14	81609330	81609330	+	Missense_Mutation	SNP	C	C	A	rs121908882		TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr14:81609330C>A	ENST00000541158.2	+	11	1250	c.928C>A	c.(928-930)Cgc>Agc	p.R310S	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.R310S			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	310			R -> C (in CHNG1). {ECO:0000269|PubMed:11095460}.		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCAGAGCTTGCGCCAGAGAAA	0.488			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															dbGAP	yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0			GRCh37	CM002872	TSHR	M	rs121908882						127.0	122.0	123.0					14																	81609330		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.928C>A	14.37:g.81609330C>A	ENSP00000441235:p.Arg310Ser		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.R310S	ENST00000541158.2	37	c.928	CCDS9872.1	14	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103316	0.37145	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.75050	-0.9;-0.9	6.08	6.08	0.98989	.	0.304707	0.38959	N	0.001502	T	0.55657	0.1934	N	0.08118	0	0.41096	D	0.985635	P	0.40083	0.702	B	0.37144	0.242	T	0.59150	-0.7508	10	0.28530	T	0.3	.	15.3887	0.74726	0.1392:0.8608:0.0:0.0	.	310	F5GYU5	.	S	310	ENSP00000441235:R310S;ENSP00000298171:R310S	ENSP00000298171:R310S	R	+	1	0	TSHR	80679083	0.823000	0.29233	1.000000	0.80357	0.989000	0.77384	2.159000	0.42339	2.894000	0.99253	0.655000	0.94253	CGC	TSHR	-	prints_TSH_rcpt	ENSG00000165409		0.488	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	294	0.34	1	C	NM_000369		81609330	81609330	+1	no_errors	ENST00000298171	ensembl	human	known	69_37n	missense	55	62.59	92	SNP	1.000	A
TYW1B	441250	genome.wustl.edu	37	7	72093976	72093976	+	RNA	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr7:72093976G>A	ENST00000435769.2	-	0	1636				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TAGACAGTTCGTTGTTGCTAA	0.493																																						dbGAP											0													82.0	95.0	91.0					7																	72093976		692	1591	2283	-	-	-			0			BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72093976G>A			A6NG09|B4DFY2|Q3KQX2	RNA	SNP	-	NULL	ENST00000435769.2	37	NULL		7																																																																																			TYW1B	-	-	ENSG00000254184		0.493	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	TYW1B	HGNC	polymorphic_pseudogene	OTTHUMT00000347346.2	30	0.00	0	G	NM_001145440		72093976	72093976	-1	no_errors	ENST00000438125	ensembl	human	known	69_37n	rna	15	46.43	13	SNP	0.987	A
UBA3	9039	genome.wustl.edu	37	3	69113243	69113243	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr3:69113243C>G	ENST00000361055.4	-	7	502	c.448G>C	c.(448-450)Gat>Cat	p.D150H	UBA3_ENST00000415609.2_Missense_Mutation_p.D109H|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000349511.4_Missense_Mutation_p.D136H	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	150					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TCGTTAAAATCTTGAATCTTG	0.299																																						dbGAP											0													56.0	56.0	56.0					3																	69113243		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.448G>C	3.37:g.69113243C>G	ENSP00000354340:p.Asp150His		A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.D150H	ENST00000361055.4	37	c.448	CCDS2909.1	3	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927181	0.73327	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511	T;T;T	0.32515	1.45;1.45;1.45	5.92	4.87	0.63330	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.045024	0.85682	D	0.000000	T	0.61961	0.2389	M	0.92691	3.335	0.80722	D	1	D;D	0.57899	0.977;0.981	P;P	0.61592	0.826;0.891	T	0.71556	-0.4557	10	0.87932	D	0	-15.6154	15.6924	0.77464	0.0:0.9228:0.0:0.0772	.	136;150	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	H	109;150;136	ENSP00000400294:D109H;ENSP00000354340:D150H;ENSP00000340041:D136H	ENSP00000340041:D136H	D	-	1	0	UBA3	69195933	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.067000	0.64357	2.809000	0.96659	0.655000	0.94253	GAT	UBA3	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000144744		0.299	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA3	HGNC	protein_coding	OTTHUMT00000334839.1	107	0.00	0	C	NM_198195		69113243	69113243	-1	no_errors	ENST00000361055	ensembl	human	known	69_37n	missense	62	38.61	39	SNP	1.000	G
VWA3B	200403	genome.wustl.edu	37	2	98928506	98928507	+	Intron	INS	-	-	G	rs374561862|rs550251243	byFrequency	TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr2:98928506_98928507insG	ENST00000477737.1	+	27	3939				VWA3B_ENST00000490947.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTTTGGGTGATGGGGGGGGAAC	0.594													GGGGGGG|GGGGGGGG|GGGGGGGGG|cryptic_indel	5	0.000998403	0.0023	0.0	5008	,	,		17671	0.002		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3735+11->G	2.37:g.98928514_98928514dupG			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Frame_Shift_Ins	INS	pfscan_VWF_A	p.T662fs	ENST00000477737.1	37	c.1977_1978	CCDS42718.1	2																																																																																			VWA3B	-	NULL	ENSG00000168658		0.594	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	26	0.00	0	-	NM_144992		98928506	98928507	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000473149	ensembl	human	putative	69_37n	frame_shift_ins	8	20.00	2	INS	0.000:0.004	G
WDR60	55112	genome.wustl.edu	37	7	158672659	158672659	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr7:158672659G>A	ENST00000407559.3	+	5	1016	c.858G>A	c.(856-858)gaG>gaA	p.E286E		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	286					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CAAAAGATGAGCCCAGGAAAA	0.507																																						dbGAP											0													63.0	66.0	65.0					7																	158672659		1880	4093	5973	-	-	-	SO:0001819	synonymous_variant	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.858G>A	7.37:g.158672659G>A			Q9NW58	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E286	ENST00000407559.3	37	c.858	CCDS47757.1	7																																																																																			WDR60	-	NULL	ENSG00000126870		0.507	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	335	0.00	0	G	NM_018051		158672659	158672659	+1	no_errors	ENST00000407559	ensembl	human	known	69_37n	silent	164	35.94	92	SNP	0.264	A
WRAP53	55135	genome.wustl.edu	37	17	7606072	7606072	+	Silent	SNP	C	C	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr17:7606072C>A	ENST00000316024.5	+	8	3524	c.1176C>A	c.(1174-1176)ctC>ctA	p.L392L	EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000457584.2_Silent_p.L392L|WRAP53_ENST00000396463.2_Silent_p.L392L|WRAP53_ENST00000534050.1_Silent_p.L359L|WRAP53_ENST00000431639.2_Silent_p.L392L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	392					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ATGCTGAGCTCCTGTGCTGGG	0.612																																						dbGAP											0													98.0	85.0	89.0					17																	7606072		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1176C>A	17.37:g.7606072C>A			B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L392	ENST00000316024.5	37	c.1176	CCDS11119.1	17																																																																																			WRAP53	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000141499		0.612	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	HGNC	protein_coding	OTTHUMT00000259385.2	52	0.00	0	C	NM_018081		7606072	7606072	+1	no_errors	ENST00000316024	ensembl	human	known	69_37n	silent	3	85.00	17	SNP	0.971	A
ZFHX4	79776	genome.wustl.edu	37	8	77745629	77745629	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr8:77745629G>A	ENST00000521891.2	+	5	3829	c.3381G>A	c.(3379-3381)ttG>ttA	p.L1127L	ZFHX4_ENST00000518282.1_Silent_p.L1101L|ZFHX4_ENST00000455469.2_Intron|ZFHX4_ENST00000050961.6_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCAGCAGTTGAGATCGACCT	0.408										HNSCC(33;0.089)																												dbGAP											0													105.0	98.0	100.0					8																	77745629		1948	4158	6106	-	-	-	SO:0001819	synonymous_variant	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3381G>A	8.37:g.77745629G>A			G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	NULL	p.E72K	ENST00000521891.2	37	c.214	CCDS47878.2	8																																																																																			ZFHX4	-	NULL	ENSG00000091656		0.408	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	78	0.00	0	G	NM_024721		77745629	77745629	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000523625	ensembl	human	known	69_37n	missense	56	47.66	51	SNP	0.994	A
ZNRF4	148066	genome.wustl.edu	37	19	5455667	5455667	+	Silent	SNP	G	G	A			TCGA-A8-A09N-01A-11W-A019-09	TCGA-A8-A09N-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	304a2945-f134-45c7-9eaa-c6c9c2435552	03c46c7b-9609-47ca-8ae5-714ce4a77860	g.chr19:5455667G>A	ENST00000222033.4	+	1	242	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	55						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CATGCCTGCCGCCTCCAGTGG	0.672																																						dbGAP											0													38.0	46.0	43.0					19																	5455667		2037	4188	6225	-	-	-	SO:0001819	synonymous_variant	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.165G>A	19.37:g.5455667G>A			A8K886|O75866	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P55	ENST00000222033.4	37	c.165	CCDS42475.1	19																																																																																			ZNRF4	-	NULL	ENSG00000105428		0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	51	0.00	0	G	NM_181710		5455667	5455667	+1	no_errors	ENST00000222033	ensembl	human	known	69_37n	silent	44	33.82	23	SNP	0.000	A
