#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AHDC1	27245	genome.wustl.edu	37	1	27861171	27861172	+	3'UTR	INS	-	-	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:27861171_27861172insT	ENST00000247087.5	-	0	5707_5708				AHDC1_ENST00000374011.2_3'UTR			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1								DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ctctctctctcttttttttttt	0.416																																																	0																																										SO:0001624	3_prime_UTR_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.*300->A	1.37:g.27861182_27861182dupT			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	RNA	INS	-	NULL	ENST00000247087.5	37	NULL	CCDS30652.1	1																																																																																			AHDC1	-	-		0.416	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	-			27861172	-1	no_errors	ENST00000482400	ensembl	human	known	70_37	rna	INS	0.974:0.982	T
AMZ1	155185	genome.wustl.edu	37	7	2740156	2740156	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr7:2740156C>T	ENST00000312371.4	+	2	439	c.71C>T	c.(70-72)aCt>aTt	p.T24I	AMZ1_ENST00000407112.1_Missense_Mutation_p.T24I	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	24							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTGGTCTCCACTGACGCAGCC	0.672																																																	0													98.0	104.0	102.0					7																	2740156		2203	4300	6503	SO:0001583	missense	155185			AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.71C>T	7.37:g.2740156C>T	ENSP00000308149:p.Thr24Ile		B3KRS0|Q8TF51	Missense_Mutation	SNP	pfam_Pept_M54_archaemetzincn	p.T24I	ENST00000312371.4	37	c.71	CCDS34589.1	7	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375830	0.24857	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.32988	1.86;1.43	4.24	1.38	0.22167	.	0.581438	0.14772	N	0.299328	T	0.29256	0.0728	M	0.63428	1.95	0.09310	N	1	P;B	0.41910	0.764;0.244	B;B	0.42882	0.401;0.109	T	0.18777	-1.0326	10	0.56958	D	0.05	-0.2104	3.3142	0.07027	0.1412:0.5123:0.2433:0.1032	.	24;24	B3KRS0;Q400G9	.;AMZ1_HUMAN	I	24	ENSP00000308149:T24I;ENSP00000386020:T24I	ENSP00000308149:T24I	T	+	2	0	AMZ1	2706682	0.002000	0.14202	0.000000	0.03702	0.458000	0.32498	0.898000	0.28404	-0.031000	0.13781	0.561000	0.74099	ACT	AMZ1	-	NULL		0.672	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ1	HGNC	protein_coding	OTTHUMT00000325244.1	C	NM_133463		2740156	+1	no_errors	ENST00000312371	ensembl	human	known	70_37	missense	SNP	0.048	T
ANKHD1	54882	genome.wustl.edu	37	5	139838931	139838931	+	Silent	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr5:139838931C>T	ENST00000360839.2	+	9	1817	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	ANKHD1_ENST00000394723.3_Silent_p.L555L|ANKHD1_ENST00000394722.3_Silent_p.L544L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L555L|ANKHD1_ENST00000297183.6_Silent_p.L555L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	555						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATATTTGCTGGCTTCTGG	0.408																																																	0													82.0	82.0	82.0					5																	139838931		2203	4300	6503	SO:0001819	synonymous_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1663C>T	5.37:g.139838931C>T			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.L555	ENST00000360839.2	37	c.1663	CCDS4225.1	5																																																																																			ANKHD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.408	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139838931	+1	no_errors	ENST00000297183	ensembl	human	known	70_37	silent	SNP	0.985	T
ARHGEF33	100271715	genome.wustl.edu	37	2	39185251	39185251	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:39185251G>T	ENST00000536934.1	+	13	1532	c.1447G>T	c.(1447-1449)Ggt>Tgt	p.G483C	ARHGEF33_ENST00000483305.1_3'UTR|ARHGEF33_ENST00000409978.1_Missense_Mutation_p.G483C|ARHGEF33_ENST00000398800.4_Missense_Mutation_p.G483C			A8MVX0	ARG33_HUMAN	Rho guanine nucleotide exchange factor (GEF) 33	483							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|pancreas(1)|prostate(1)	5						CCCCACTGCAGGTCCTGAGGC	0.552																																																	0													120.0	107.0	111.0					2																	39185251		692	1591	2283	SO:0001583	missense	100271715				CCDS46263.1, CCDS46263.2	2p22.1	2012-07-24			ENSG00000214694	ENSG00000214694		"""Rho guanine nucleotide exchange factors"""	37252	protein-coding gene	gene with protein product							Standard	NM_001145451		Approved		uc021vgd.1	A8MVX0	OTTHUMG00000153540	ENST00000536934.1:c.1447G>T	2.37:g.39185251G>T	ENSP00000445586:p.Gly483Cys		J3KPX2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain	p.G483C	ENST00000536934.1	37	c.1447		2	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715289	0.68844	.	.	ENSG00000214694	ENST00000409978;ENST00000398800;ENST00000536934	T;T;T	0.52983	0.65;0.65;0.64	5.27	5.27	0.74061	.	.	.	.	.	T	0.28928	0.0718	N	0.14661	0.345	0.33195	D	0.551323	B	0.18863	0.031	B	0.15870	0.014	T	0.31392	-0.9945	9	0.72032	D	0.01	.	5.6481	0.17600	0.1239:0.0:0.691:0.1851	.	483	A8MVX0	ARG33_HUMAN	C	483	ENSP00000387020:G483C;ENSP00000381780:G483C;ENSP00000445586:G483C	ENSP00000381780:G483C	G	+	1	0	ARHGEF33	39038755	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.283000	0.51701	2.451000	0.82905	0.655000	0.94253	GGT	ARHGEF33	-	NULL		0.552	ARHGEF33-202	KNOWN	basic	protein_coding	ARHGEF33	HGNC	protein_coding		G	NM_001145451		39185251	+1	no_errors	ENST00000398800	ensembl	human	known	70_37	missense	SNP	0.999	T
ASPG	374569	genome.wustl.edu	37	14	104559921	104559921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr14:104559921C>A	ENST00000551177.1	+	3	377	c.285C>A	c.(283-285)tgC>tgA	p.C95*	ASPG_ENST00000546892.2_Nonsense_Mutation_p.C95*|ASPG_ENST00000455920.2_Nonsense_Mutation_p.C95*	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	95	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.		C -> R (in dbSNP:rs1770984).		asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						AGTGGGTTTGCCTTGCCCAGA	0.642																																																	0													75.0	87.0	83.0					14																	104559921		2076	4187	6263	SO:0001587	stop_gained	374569				CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.285C>A	14.37:g.104559921C>A	ENSP00000450040:p.Cys95*		B9EGQ2|Q8IV80	Nonsense_Mutation	SNP	pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,tigrfam_AsnASEI	p.C95*	ENST00000551177.1	37	c.285	CCDS45170.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.486366|2.486366	0.44147|0.44147	.|.	.|.	ENSG00000166183|ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920|ENST00000551170	.|.	.|.	.|.	3.57|3.57	-0.934|-0.934	0.10428|0.10428	.|.	0.458541|.	0.22121|.	N|.	0.064331|.	.|T	.|0.19927	.|0.0479	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26360	.|-1.0105	.|3	0.45353|.	T|.	0.12|.	-7.6268|-7.6268	1.0349|1.0349	0.01546|0.01546	0.1652:0.2774:0.2868:0.2707|0.1652:0.2774:0.2868:0.2707	.|.	.|.	.|.	.|.	X|T	95;123;95;95|32	.|.	ENSP00000299234:C123X|.	C|P	+|+	3|1	2|0	ASPG|ASPG	103629674|103629674	0.002000|0.002000	0.14202|0.14202	0.204000|0.204000	0.23530|0.23530	0.013000|0.013000	0.08279|0.08279	-0.087000|-0.087000	0.11215|0.11215	-0.143000|-0.143000	0.11334|0.11334	-1.434000|-1.434000	0.01081|0.01081	TGC|CCT	ASPG	-	pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI		0.642	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	HGNC	protein_coding	OTTHUMT00000407005.1	C	NM_001080464		104559921	+1	no_errors	ENST00000455920	ensembl	human	known	70_37	nonsense	SNP	0.013	A
B3GALT4	8705	genome.wustl.edu	37	6	33245262	33245262	+	Silent	SNP	C	C	T	rs370873982		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:33245262C>T	ENST00000451237.1	+	1	346	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	22					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCTGGACCCTCTTCGGGCCTT	0.701																																																	0								C		0,4402		0,0,2201	30.0	34.0	33.0		66	1.7	1.0	6		33	1,8589		0,1,4294	no	coding-synonymous	B3GALT4	NM_003782.3		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		22/379	33245262	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	8705			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.66C>T	6.37:g.33245262C>T				Silent	SNP	pfam_Glyco_trans_31	p.L22	ENST00000451237.1	37	c.66	CCDS34425.1	6																																																																																			B3GALT4	-	NULL		0.701	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT4	HGNC	protein_coding	OTTHUMT00000076162.2	C			33245262	+1	no_errors	ENST00000451237	ensembl	human	known	70_37	silent	SNP	0.018	T
B4GALT7	11285	genome.wustl.edu	37	5	177031510	177031510	+	Silent	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr5:177031510C>T	ENST00000029410.5	+	2	492	c.381C>T	c.(379-381)caC>caT	p.H127H		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	127					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGGCACCACATCTACGTGC	0.667																																																	0													57.0	60.0	59.0					5																	177031510		2203	4300	6503	SO:0001819	synonymous_variant	11285			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.381C>T	5.37:g.177031510C>T			B3KN39|Q9UHN2	Silent	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.H127	ENST00000029410.5	37	c.381	CCDS4429.1	5																																																																																			B4GALT7	-	pfam_Galactosyl_T_2_met		0.667	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	HGNC	protein_coding	OTTHUMT00000253421.1	C	NM_007255		177031510	+1	no_errors	ENST00000029410	ensembl	human	known	70_37	silent	SNP	1.000	T
CA7	766	genome.wustl.edu	37	16	66881082	66881082	+	Missense_Mutation	SNP	A	A	G			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr16:66881082A>G	ENST00000338437.2	+	2	299	c.190A>G	c.(190-192)Aat>Gat	p.N64D	CA7_ENST00000394069.3_Missense_Mutation_p.N8D|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	64					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	CATCACCAACAATGGCCACTC	0.577																																																	0													124.0	103.0	110.0					16																	66881082		2200	4300	6500	SO:0001583	missense	766				CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.190A>G	16.37:g.66881082A>G	ENSP00000345659:p.Asn64Asp		Q541F0|Q86YU0	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.N64D	ENST00000338437.2	37	c.190	CCDS10821.1	16	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644659	0.67358	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	T;T	0.66638	-0.22;-0.22	5.08	5.08	0.68730	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.048128	0.85682	D	0.000000	T	0.70552	0.3237	M	0.84326	2.69	0.52099	D	0.999949	P	0.41848	0.763	B	0.40285	0.325	T	0.76790	-0.2829	10	0.72032	D	0.01	-24.4258	13.6839	0.62504	1.0:0.0:0.0:0.0	.	64	P43166	CAH7_HUMAN	D	64;8	ENSP00000345659:N64D;ENSP00000377632:N8D	ENSP00000345659:N64D	N	+	1	0	CA7	65438583	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.842000	0.92136	1.914000	0.55421	0.533000	0.62120	AAT	CA7	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.577	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA7	HGNC	protein_coding	OTTHUMT00000268847.1	A			66881082	+1	no_errors	ENST00000338437	ensembl	human	known	70_37	missense	SNP	1.000	G
CASK	8573	genome.wustl.edu	37	X	41481887	41481887	+	Splice_Site	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chrX:41481887C>T	ENST00000378163.1	-	11	1490	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	CASK_ENST00000378154.1_Splice_Site_p.G339E|CASK_ENST00000442742.2_Splice_Site_p.G339E|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Splice_Site_p.G339E|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Splice_Site_p.G339E			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	339					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGCTAGAAGTCCTAGGAGGAA	0.423																																					NSCLC(42;104 1086 3090 27189 35040)												0													86.0	62.0	70.0					X																	41481887		2202	4296	6498	SO:0001630	splice_region_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1016-1G>A	X.37:g.41481887C>T			A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.G339E	ENST00000378163.1	37	c.1016		X	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140082	0.56936	.	.	ENSG00000147044	ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T	0.66460	-0.2;-0.2;-0.2;-0.2;-0.21	5.81	5.81	0.92471	.	.	.	.	.	T	0.72938	0.3523	N	0.24115	0.695	0.80722	D	1	D;B;B	0.76494	0.999;0.009;0.009	D;B;B	0.80764	0.994;0.004;0.007	T	0.73269	-0.4036	9	0.40728	T	0.16	.	19.0171	0.92899	0.0:1.0:0.0:0.0	.	339;339;339	O14936-4;O14936-2;O14936	.;.;CSKP_HUMAN	E	339	ENSP00000367405:G339E;ENSP00000367400:G339E;ENSP00000367408:G339E;ENSP00000398007:G339E;ENSP00000367396:G339E	ENSP00000367396:G339E	G	-	2	0	CASK	41366831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.440000	0.82611	0.600000	0.82982	GGA	CASK	-	NULL		0.423	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	C	NM_003688	Missense_Mutation	41481887	-1	no_errors	ENST00000378163	ensembl	human	known	70_37	missense	SNP	1.000	T
CBFB	865	genome.wustl.edu	37	16	67100636	67100636	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr16:67100636G>A	ENST00000290858.6	+	4	595	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	CBFB_ENST00000561924.2_Missense_Mutation_p.G12S|CBFB_ENST00000412916.2_Missense_Mutation_p.G112S	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	112					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TATCTGGAAAGGCTGGATTGA	0.443			T	MYH11	AML																																			Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0													160.0	140.0	147.0					16																	67100636		2200	4300	6500	SO:0001583	missense	865			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.334G>A	16.37:g.67100636G>A	ENSP00000290858:p.Gly112Ser		A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.G112S	ENST00000290858.6	37	c.334	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738948	0.69304	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83252	0.5214	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85126	0.0972	9	0.87932	D	0	-20.4461	18.1601	0.89705	0.0:0.0:1.0:0.0	.	112;112	Q13951-2;Q13951	.;PEBB_HUMAN	S	112	.	ENSP00000290858:G112S	G	+	1	0	CBFB	65658137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.578000	0.98200	2.648000	0.89879	0.561000	0.74099	GGC	CBFB	-	pfam_CBF_beta,superfamily_CBF_beta		0.443	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	G	NM_001755		67100636	+1	no_errors	ENST00000290858	ensembl	human	known	70_37	missense	SNP	1.000	A
CBLC	23624	genome.wustl.edu	37	19	45295767	45295767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr19:45295767G>A	ENST00000270279.3	+	7	1196	c.1133G>A	c.(1132-1134)tGg>tAg	p.W378*	CBLC_ENST00000341505.4_Nonsense_Mutation_p.W332*	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	378	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CTGGCTGCCTGGCAGGTGGGT	0.582			M		AML																																			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													61.0	59.0	60.0					19																	45295767		2203	4300	6503	SO:0001587	stop_gained	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1133G>A	19.37:g.45295767G>A	ENSP00000270279:p.Trp378*		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Nonsense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.W378*	ENST00000270279.3	37	c.1133	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	37	6.228511	0.97394	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	.	.	.	4.28	4.28	0.50868	.	0.000000	0.40302	N	0.001134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.7528	14.622	0.68594	0.0:0.0:1.0:0.0	.	.	.	.	X	378;332	.	ENSP00000270279:W378X	W	+	2	0	CBLC	49987607	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.789000	0.91839	2.404000	0.81709	0.643000	0.83706	TGG	CBLC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.582	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	G	NM_012116		45295767	+1	no_errors	ENST00000270279	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CD99	4267	genome.wustl.edu	37	X	2651449	2651449	+	Intron	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chrX:2651449G>A	ENST00000381192.3	+	9	657				CD99_ENST00000381187.3_Intron|CD99_ENST00000381184.1_3'UTR|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CCTGCGGAGCGTCCTGACCGT	0.488																																																	0													11.0	10.0	10.0					X																	2651449		873	1987	2860	SO:0001627	intron_variant	4267			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.476-4792G>A	X.37:g.2651449G>A			A6NIW1|O00518|Q6ICV7	RNA	SNP	-	NULL	ENST00000381192.3	37	NULL	CCDS14119.1	X																																																																																			CD99	-	-		0.488	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	G	NM_001122898		2651449	+1	no_errors	ENST00000482405	ensembl	human	known	70_37	rna	SNP	0.000	A
CDH7	1005	genome.wustl.edu	37	18	63511149	63511149	+	Silent	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr18:63511149G>A	ENST00000397968.2	+	7	1509	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	CDH7_ENST00000536984.2_Silent_p.T361T|CDH7_ENST00000323011.3_Silent_p.T361T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	361	Cadherin 3. {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)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCAGTGACACGACAACTGTGA	0.483																																																	0													167.0	141.0	150.0					18																	63511149		2203	4300	6503	SO:0001819	synonymous_variant	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1083G>A	18.37:g.63511149G>A			Q9H157	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T361	ENST00000397968.2	37	c.1083	CCDS11993.1	18																																																																																			CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	G	NM_033646		63511149	+1	no_errors	ENST00000323011	ensembl	human	known	70_37	silent	SNP	0.570	A
CTBP2	1488	genome.wustl.edu	37	10	126714653	126714653	+	Intron	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr10:126714653G>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.P559L|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGTATTACTTGGTTCTGGTGC	0.632																																																	0													92.0	93.0	93.0					10																	126714653		2203	4300	6503	SO:0001627	intron_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12912C>T	10.37:g.126714653G>A			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.P559L	ENST00000337195.5	37	c.1676	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697824	0.48307	.	.	ENSG00000175029	ENST00000309035	D	0.82803	-1.65	5.29	4.34	0.51931	.	0.555416	0.18714	N	0.133209	T	0.78559	0.4302	.	.	.	0.80722	D	1	P	0.34587	0.458	B	0.31869	0.137	T	0.80219	-0.1473	9	0.54805	T	0.06	.	15.9448	0.79784	0.0:0.0:0.865:0.135	.	559	P56545-2	.	L	559	ENSP00000311825:P559L	ENSP00000311825:P559L	P	-	2	0	CTBP2	126704643	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	6.567000	0.73983	2.642000	0.89623	0.591000	0.81541	CCA	CTBP2	-	NULL		0.632	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	G	NM_001083914		126714653	-1	no_errors	ENST00000309035	ensembl	human	known	70_37	missense	SNP	1.000	A
DISP2	85455	genome.wustl.edu	37	15	40660964	40660964	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr15:40660964C>T	ENST00000267889.3	+	8	2738	c.2651C>T	c.(2650-2652)cCc>cTc	p.P884L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	884					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GAGCAAGGCCCCGATGGCACC	0.642																																																	0													30.0	32.0	32.0					15																	40660964		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2651C>T	15.37:g.40660964C>T	ENSP00000267889:p.Pro884Leu		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.P884L	ENST00000267889.3	37	c.2651	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255512	0.22965	.	.	ENSG00000140323	ENST00000267889	T	0.12465	2.68	4.99	4.05	0.47172	.	0.299113	0.34959	N	0.003542	T	0.11324	0.0276	L	0.44542	1.39	0.40291	D	0.978505	B	0.09022	0.002	B	0.09377	0.004	T	0.11012	-1.0605	10	0.24483	T	0.36	-22.537	8.836	0.35113	0.1338:0.5579:0.3083:0.0	.	884	A7MBM2	DISP2_HUMAN	L	884	ENSP00000267889:P884L	ENSP00000267889:P884L	P	+	2	0	DISP2	38448256	0.001000	0.12720	0.817000	0.32601	0.872000	0.50106	1.401000	0.34589	1.294000	0.44707	0.555000	0.69702	CCC	DISP2	-	NULL		0.642	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	C	NM_033510		40660964	+1	no_errors	ENST00000267889	ensembl	human	known	70_37	missense	SNP	0.683	T
DNAH3	55567	genome.wustl.edu	37	16	20974746	20974746	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr16:20974746G>T	ENST00000261383.3	-	53	10459	c.10460C>A	c.(10459-10461)gCg>gAg	p.A3487E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3487					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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCCCGGACCGCTGGCACCAT	0.527																																																	0													91.0	80.0	84.0					16																	20974746		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10460C>A	16.37:g.20974746G>T	ENSP00000261383:p.Ala3487Glu		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.A3487E	ENST00000261383.3	37	c.10460	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721184	0.68959	.	.	ENSG00000158486	ENST00000261383	T	0.10099	2.91	5.52	5.52	0.82312	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.94063	3.49	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.60239	-0.7302	10	0.87932	D	0	.	19.4388	0.94809	0.0:0.0:1.0:0.0	.	3487	Q8TD57	DYH3_HUMAN	E	3487	ENSP00000261383:A3487E	ENSP00000261383:A3487E	A	-	2	0	DNAH3	20882247	1.000000	0.71417	0.888000	0.34837	0.027000	0.11550	9.869000	0.99810	2.590000	0.87494	0.655000	0.94253	GCG	DNAH3	-	pfam_Dynein_heavy_dom		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		20974746	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH7	56171	genome.wustl.edu	37	2	196753575	196753575	+	Missense_Mutation	SNP	T	T	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:196753575T>A	ENST00000312428.6	-	32	5277	c.5177A>T	c.(5176-5178)cAa>cTa	p.Q1726L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1726	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGATTCATTTGTGGTGACAT	0.373																																																	0													119.0	116.0	117.0					2																	196753575		1917	4139	6056	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5177A>T	2.37:g.196753575T>A	ENSP00000311273:p.Gln1726Leu		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.Q1726L	ENST00000312428.6	37	c.5177	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	12.64	1.998400	0.35226	.	.	ENSG00000118997	ENST00000312428	T	0.39997	1.05	5.38	4.16	0.48862	.	0.129980	0.52532	D	0.000079	T	0.37544	0.1007	L	0.55103	1.725	0.80722	D	1	B	0.14805	0.011	B	0.17098	0.017	T	0.18335	-1.0340	10	0.26408	T	0.33	.	12.6471	0.56742	0.0:0.0:0.137:0.8629	.	1726	Q8WXX0	DYH7_HUMAN	L	1726	ENSP00000311273:Q1726L	ENSP00000311273:Q1726L	Q	-	2	0	DNAH7	196461820	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	4.902000	0.63266	2.173000	0.68751	0.533000	0.62120	CAA	DNAH7	-	NULL		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	T	NM_018897		196753575	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	0.996	A
DYNC1H1	1778	genome.wustl.edu	37	14	102514296	102514296	+	Silent	SNP	C	C	T	rs375767483		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr14:102514296C>T	ENST00000360184.4	+	73	13313	c.13149C>T	c.(13147-13149)acC>acT	p.T4383T	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4383					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCACACCACCGCGTCCAACT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		15065	0.0		0.001	False		,,,				2504	0.0																0								C		0,4406		0,0,2203	113.0	70.0	85.0		13149	-6.6	0.9	14	dbSNP_134	85	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	DYNC1H1	NM_001376.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		4383/4647	102514296	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13149C>T	14.37:g.102514296C>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.T4383	ENST00000360184.4	37	c.13149	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom		0.647	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	C	NM_001376		102514296	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	0.087	T
EIF2B3	8891	genome.wustl.edu	37	1	45424469	45424469	+	Intron	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:45424469C>T	ENST00000360403.2	-	4	421				EIF2B3_ENST00000372183.3_Intron|EIF2B3_ENST00000480675.1_Intron	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa						cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					GGCAGGACTGCGACAAGAGAT	0.453																																					Colon(26;357 658 2581 11857 12657)												0																																										SO:0001627	intron_variant	8891			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.295-17132G>A	1.37:g.45424469C>T			B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	RNA	SNP	-	NULL	ENST00000360403.2	37	NULL	CCDS517.1	1																																																																																			EIF2B3	-	-		0.453	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B3	HGNC	protein_coding	OTTHUMT00000023724.1	C	NM_020365		45424469	-1	no_errors	ENST00000487532	ensembl	human	known	70_37	rna	SNP	1.000	T
CUX2	23316	genome.wustl.edu	37	12	111511845	111511846	+	Intron	INS	-	-	A	rs138402296|rs557943101		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr12:111511845_111511846insA	ENST00000261726.6	+	1	217				AC002978.1_ENST00000408332.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2						cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						atacttatactaaaaaaaaaaa	0.307																																																	0																																										SO:0001627	intron_variant	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.63+39801->A	12.37:g.111511856_111511856dupA			A7E2Y4	RNA	INS	-	NULL	ENST00000261726.6	37	NULL	CCDS41837.1	12																																																																																			AC002978.1	-	-		0.307	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221259	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000404765.1	-	NM_015267		111511846	+1	no_errors	ENST00000408332	ensembl	human	novel	70_37	rna	INS	0.000:0.000	A
CUBNP1	728064	genome.wustl.edu	37	10	43201866	43201867	+	lincRNA	INS	-	-	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr10:43201866_43201867insT	ENST00000439913.1	+	0	3930_3931																											aaacctgcacatgtaaccctga	0.347																																																	0																																												0																															10.37:g.43201867_43201867dupT				RNA	INS	-	NULL	ENST00000439913.1	37	NULL		10																																																																																			AL022344.5	-	-		0.347	AL022344.5-001	KNOWN	basic	lincRNA	ENSG00000234864	Clone_based_vega_gene	lincRNA	OTTHUMT00000047688.1	-			43201867	+1	no_errors	ENST00000439913	ensembl	human	known	70_37	rna	INS	0.844:0.852	T
STXBP1	6812	genome.wustl.edu	37	9	130457376	130457376	+	IGR	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr9:130457376G>A	ENST00000373299.1	+	0	3759				STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1						axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						tgatgatggtgatgatgatga	0.473																																																	0																																										SO:0001628	intergenic_variant	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713		9.37:g.130457376G>A			B1AM97|Q28208|Q62759|Q64320|Q96TG8	RNA	SNP	-	NULL	ENST00000373299.1	37	NULL	CCDS35146.1	9																																																																																			RP11-56D16.2	-	-		0.473	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248666	Clone_based_vega_gene	protein_coding	OTTHUMT00000054229.1	G	NM_003165		130457376	-1	no_errors	ENST00000335223	ensembl	human	known	70_37	rna	SNP	0.023	A
DNM1P47	100216544	genome.wustl.edu	37	15	102294753	102294753	+	RNA	SNP	T	T	C	rs199837843|rs74200285		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr15:102294753T>C	ENST00000561463.1	+	0	2799									DNM1 pseudogene 47																		GTCCAACCTGTACTCGCGTGG	0.582																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294753T>C				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.582	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	T	NG_009149		102294753	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	1.000	C
EPHA2	1969	genome.wustl.edu	37	1	16464648	16464648	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:16464648C>T	ENST00000358432.5	-	5	1166	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	338	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CCCATGCCCACGGCTGTGAGG	0.677																																																	0													23.0	23.0	23.0					1																	16464648		2201	4298	6499	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1012G>A	1.37:g.16464648C>T	ENSP00000351209:p.Val338Met		B5A968|Q8N3Z2	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,pfam_Interferon_alpha/beta_rcpt_bsu,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.V338M	ENST00000358432.5	37	c.1012	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907415	0.33628	.	.	ENSG00000142627	ENST00000358432	T	0.57595	0.39	4.97	0.174	0.15040	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.956335	0.08606	N	0.920724	T	0.35480	0.0933	L	0.28192	0.835	0.24087	N	0.995922	B;B	0.24823	0.112;0.084	B;B	0.21708	0.016;0.036	T	0.32241	-0.9914	10	0.59425	D	0.04	.	4.1656	0.10305	0.1631:0.4973:0.0:0.3396	.	338;338	B5A968;P29317	.;EPHA2_HUMAN	M	338	ENSP00000351209:V338M	ENSP00000351209:V338M	V	-	1	0	EPHA2	16337235	0.000000	0.05858	0.685000	0.30070	0.956000	0.61745	-0.419000	0.07071	0.206000	0.20587	0.561000	0.74099	GTG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.677	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16464648	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	0.166	T
EVX2	344191	genome.wustl.edu	37	2	176948343	176948343	+	Silent	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:176948343C>T	ENST00000308618.4	-	1	298	c.162G>A	c.(160-162)ccG>ccA	p.P54P		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	54					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P54P(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GGGGGGCAGACGGCAGGCGCG	0.607																																																	1	Substitution - coding silent(1)	lung(1)											38.0	44.0	42.0					2																	176948343		2203	4300	6503	SO:0001819	synonymous_variant	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.162G>A	2.37:g.176948343C>T				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa	p.P54	ENST00000308618.4	37	c.162	CCDS33333.1	2																																																																																			EVX2	-	NULL		0.607	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1	C			176948343	-1	no_errors	ENST00000308618	ensembl	human	known	70_37	silent	SNP	1.000	T
EYA4	2070	genome.wustl.edu	37	6	133777755	133777755	+	Silent	SNP	A	A	G			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:133777755A>G	ENST00000367895.5	+	6	803	c.339A>G	c.(337-339)ggA>ggG	p.G113G	EYA4_ENST00000355286.6_Silent_p.G90G|RP1-283K11.2_ENST00000457081.1_RNA|EYA4_ENST00000525849.1_Silent_p.G90G|EYA4_ENST00000531901.1_Silent_p.G113G|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000431403.2_Silent_p.G113G|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000355167.3_Silent_p.G113G	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	113					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCACGACTGGAGATGGAGCGC	0.473																																					Melanoma(57;398 1237 3528 4702 7415)												0													214.0	208.0	210.0					6																	133777755		2203	4300	6503	SO:0001819	synonymous_variant	2070			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.339A>G	6.37:g.133777755A>G			B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.G113	ENST00000367895.5	37	c.339	CCDS5165.1	6																																																																																			EYA4	-	NULL		0.473	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	HGNC	protein_coding	OTTHUMT00000042282.2	A	NM_004100		133777755	+1	no_errors	ENST00000355167	ensembl	human	known	70_37	silent	SNP	1.000	G
FAM111A	63901	genome.wustl.edu	37	11	58920144	58920144	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:58920144G>T	ENST00000528737.1	+	5	3821	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	FAM111A_ENST00000420244.1_Missense_Mutation_p.G335W|FAM111A_ENST00000533703.1_Missense_Mutation_p.G335W|FAM111A_ENST00000361723.3_Missense_Mutation_p.G335W|FAM111A_ENST00000531147.1_Missense_Mutation_p.G335W			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	335					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AACAACGTTTGGGAAAGTAAC	0.333																																																	0													54.0	60.0	58.0					11																	58920144		2198	4293	6491	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1003G>T	11.37:g.58920144G>T	ENSP00000434435:p.Gly335Trp		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.G335W	ENST00000528737.1	37	c.1003	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809957	0.31961	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.73	1.3	0.21679	Peptidase cysteine/serine, trypsin-like (1);	0.421653	0.22187	N	0.063438	T	0.41259	0.1151	M	0.61703	1.905	0.30036	N	0.813053	B	0.28783	0.222	B	0.29598	0.104	T	0.42275	-0.9461	10	0.52906	T	0.07	-17.4114	7.6383	0.28280	0.0818:0.0:0.429:0.4892	.	335	Q96PZ2	F111A_HUMAN	W	335	ENSP00000434435:G335W;ENSP00000406683:G335W;ENSP00000355264:G335W;ENSP00000433154:G335W;ENSP00000431631:G335W	ENSP00000355264:G335W	G	+	1	0	FAM111A	58676720	0.998000	0.40836	0.908000	0.35775	0.620000	0.37586	1.188000	0.32102	0.362000	0.24319	0.655000	0.94253	GGG	FAM111A	-	superfamily_Pept_cys/ser_Trypsin-like		0.333	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	G	NM_022074		58920144	+1	no_errors	ENST00000361723	ensembl	human	known	70_37	missense	SNP	0.793	T
FAM65B	9750	genome.wustl.edu	37	6	25042141	25042141	+	Missense_Mutation	SNP	G	G	A	rs546816429		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:25042141G>A	ENST00000510784.2	-	1	97	c.14C>T	c.(13-15)tCg>tTg	p.S5L	RP3-425P12.5_ENST00000428903.1_RNA|RP11-367G6.3_ENST00000606385.1_lincRNA			Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	0					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GTGTAATCGCGAAGGTAACAC	0.527																																																	0																																										SO:0001583	missense	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000510784.2:c.14C>T	6.37:g.25042141G>A	ENSP00000441305:p.Ser5Leu		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	NULL	p.S5L	ENST00000510784.2	37	c.14		6	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820134	0.71028	.	.	ENSG00000111913	ENST00000510784	T	0.12984	2.63	5.3	5.3	0.74995	.	.	.	.	.	T	0.29256	0.0728	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.01225	-1.1413	8	0.87932	D	0	.	14.3228	0.66499	0.0:0.0:1.0:0.0	.	5	B7Z6U4	.	L	5	ENSP00000441305:S5L	ENSP00000441305:S5L	S	-	2	0	FAM65B	25150120	0.987000	0.35691	0.130000	0.21974	0.848000	0.48234	4.483000	0.60264	2.745000	0.94114	0.655000	0.94253	TCG	FAM65B	-	NULL		0.527	FAM65B-201	KNOWN	basic	protein_coding	FAM65B	HGNC	protein_coding		G			25042141	-1	no_errors	ENST00000510784	ensembl	human	known	70_37	missense	SNP	0.467	A
FZD2	2535	genome.wustl.edu	37	17	42636381	42636381	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr17:42636381G>A	ENST00000315323.3	+	1	1457	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	442					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCCGCATCCGCACCATCATG	0.637																																																	0													105.0	94.0	98.0					17																	42636381		2203	4300	6503	SO:0001583	missense	2535			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1325G>A	17.37:g.42636381G>A	ENSP00000323901:p.Arg442His		Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R442H	ENST00000315323.3	37	c.1325	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	27.2	4.813768	0.90790	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.85702	-2.02	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.95248	0.8357	10	0.87932	D	0	.	18.433	0.90633	0.0:0.0:1.0:0.0	.	442	Q14332	FZD2_HUMAN	H	518;442	ENSP00000323901:R442H	ENSP00000323901:R442H	R	+	2	0	FZD2	39991907	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.857000	0.99534	2.436000	0.82500	0.561000	0.74099	CGC	FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like		0.637	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	G	NM_001466		42636381	+1	no_errors	ENST00000315323	ensembl	human	known	70_37	missense	SNP	1.000	A
GDF7	151449	genome.wustl.edu	37	2	20870986	20870986	+	Missense_Mutation	SNP	C	C	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:20870986C>A	ENST00000272224.3	+	2	1730	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	385					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGACTTCCCTTTGCGTTCG	0.637																																																	0													101.0	87.0	92.0					2																	20870986		2203	4300	6503	SO:0001583	missense	151449			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1154C>A	2.37:g.20870986C>A	ENSP00000272224:p.Pro385His			Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.P385H	ENST00000272224.3	37	c.1154	CCDS1701.1	2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867616	0.72065	.	.	ENSG00000143869	ENST00000272224	T	0.65732	-0.17	3.93	3.93	0.45458	Transforming growth factor-beta, C-terminal (3);	0.000000	0.64402	U	0.000005	T	0.81108	0.4754	M	0.84433	2.695	0.50313	D	0.999866	D	0.89917	1.0	D	0.97110	1.0	D	0.85609	0.1257	10	0.87932	D	0	.	16.8324	0.85948	0.0:1.0:0.0:0.0	.	385	Q7Z4P5	GDF7_HUMAN	H	385	ENSP00000272224:P385H	ENSP00000272224:P385H	P	+	2	0	GDF7	20734467	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	5.837000	0.69381	2.117000	0.64856	0.462000	0.41574	CCT	GDF7	-	pfam_TGF-b_C,smart_TGF-b_C		0.637	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF7	HGNC	protein_coding	OTTHUMT00000207563.2	C	NM_182828		20870986	+1	no_errors	ENST00000272224	ensembl	human	known	70_37	missense	SNP	1.000	A
HERC4	26091	genome.wustl.edu	37	10	69716602	69716603	+	Intron	INS	-	-	A	rs78135151		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr10:69716602_69716603insA	ENST00000395198.3	-	18	2297				HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000395187.2_Intron|HERC4_ENST00000412272.2_Intron|HERC4_ENST00000277817.6_Intron|HERC4_ENST00000373700.4_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4						cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AAGAAACAATTAAAAAAAAAAA	0.332																																																	0																																										SO:0001627	intron_variant	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2049+31->T	10.37:g.69716613_69716613dupA			Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	RNA	INS	-	NULL	ENST00000395198.3	37	NULL	CCDS41533.1	10																																																																																			HERC4	-	-		0.332	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	-	NM_015601		69716603	-1	no_errors	ENST00000480158	ensembl	human	known	70_37	rna	INS	0.000:0.000	A
HIST1H2BD	3017	genome.wustl.edu	37	6	26158407	26158407	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:26158407C>T	ENST00000289316.2	+	1	34	c.10C>T	c.(10-12)Cct>Tct	p.P4S	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.P4S	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	4					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GATGCCTGAACCTACCAAGTC	0.512																																																	0													91.0	92.0	92.0					6																	26158407		2203	4300	6503	SO:0001583	missense	3017			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.10C>T	6.37:g.26158407C>T	ENSP00000289316:p.Pro4Ser			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.P4S	ENST00000289316.2	37	c.10	CCDS4587.1	6	.	.	.	.	.	.	.	.	.	.	.	17.27	3.347792	0.61183	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.18016	2.24;2.24	5.13	5.13	0.70059	Histone-fold (1);	0.192096	0.25186	N	0.032500	T	0.16085	0.0387	M	0.78285	2.405	0.42305	D	0.992198	B	0.30482	0.281	B	0.31547	0.132	T	0.01570	-1.1322	10	0.59425	D	0.04	.	16.1409	0.81522	0.0:1.0:0.0:0.0	.	4	P58876	H2B1D_HUMAN	S	4	ENSP00000367008:P4S;ENSP00000289316:P4S	ENSP00000289316:P4S	P	+	1	0	HIST1H2BD	26266386	0.887000	0.30362	0.232000	0.24009	0.030000	0.12068	3.599000	0.54045	2.769000	0.95229	0.650000	0.86243	CCT	HIST1H2BD	-	NULL		0.512	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BD	HGNC	protein_coding	OTTHUMT00000040088.1	C	NM_021063		26158407	+1	no_errors	ENST00000289316	ensembl	human	known	70_37	missense	SNP	0.984	T
HSP90AA1	3320	genome.wustl.edu	37	14	102552169	102552169	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr14:102552169G>A	ENST00000216281.8	-	3	660	c.455C>T	c.(454-456)aCc>aTc	p.T152I	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.T274I	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	152					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GTTATGTTTGGTGATCACAGT	0.463																																																	0													86.0	84.0	85.0					14																	102552169		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.455C>T	14.37:g.102552169G>A	ENSP00000216281:p.Thr152Ile		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.T274I	ENST00000216281.8	37	c.821	CCDS9967.1	14	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604519	0.66445	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	D;D	0.83591	-1.74;-1.74	3.99	3.99	0.46301	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	U	0.000000	D	0.93838	0.8029	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.96104	0.9071	10	0.87932	D	0	.	16.4396	0.83895	0.0:0.0:1.0:0.0	.	274;152	P07900-2;P07900	.;HS90A_HUMAN	I	152;274	ENSP00000216281:T152I;ENSP00000335153:T274I	ENSP00000216281:T152I	T	-	2	0	HSP90AA1	101621922	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.541000	0.98083	1.950000	0.56595	0.650000	0.86243	ACC	HSP90AA1	-	pirsf_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N		0.463	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2	G	NM_005348		102552169	-1	no_errors	ENST00000334701	ensembl	human	known	70_37	missense	SNP	1.000	A
IPO5	3843	genome.wustl.edu	37	13	98652882	98652882	+	Missense_Mutation	SNP	T	T	C			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr13:98652882T>C	ENST00000490680.1	+	10	1156	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T	IPO5_ENST00000539640.1_Missense_Mutation_p.M239T|IPO5_ENST00000261574.5_Missense_Mutation_p.M382T			O00410	IPO5_HUMAN	importin 5	364	Ran-GTP binding. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAACACATTATGCAAATGCTT	0.413																																																	0													132.0	113.0	120.0					13																	98652882		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1091T>C	13.37:g.98652882T>C	ENSP00000418393:p.Met364Thr		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.M382T	ENST00000490680.1	37	c.1145		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.12|15.12	2.740200|2.740200	0.49045|0.49045	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.16457	.|2.34;2.34;2.34;2.34	5.99|5.99	5.99|5.99	0.97316|0.97316	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.23572|0.23572	0.0570|0.0570	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.24920	.|0.032;0.07;0.114	.|B;B;B	.|0.29440	.|0.102;0.028;0.089	T|T	0.01566|0.01566	-1.1323|-1.1323	5|10	.|0.56958	.|D	.|0.05	-8.5924|-8.5924	16.4892|16.4892	0.84195|0.84195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|239;364;382	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	R|T	366|382;364;364;239	.|ENSP00000261574:M382T;ENSP00000350219:M364T;ENSP00000418393:M364T;ENSP00000445126:M239T	.|ENSP00000261574:M382T	C|M	+|+	1|2	0|0	IPO5|IPO5	97450883|97450883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.471000|7.471000	0.80985|0.80985	2.296000|2.296000	0.77279|0.77279	0.533000|0.533000	0.62120|0.62120	TGC|ATG	IPO5	-	superfamily_ARM-type_fold		0.413	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	T	NM_002271		98652882	+1	no_errors	ENST00000261574	ensembl	human	known	70_37	missense	SNP	1.000	C
ITGA9	3680	genome.wustl.edu	37	3	37792021	37792021	+	Silent	SNP	A	A	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr3:37792021A>T	ENST00000264741.5	+	23	2758	c.2502A>T	c.(2500-2502)tcA>tcT	p.S834S	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	834					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ATCGACTCTCATCTGGTGGTG	0.478																																																	0													197.0	174.0	182.0					3																	37792021		2203	4300	6503	SO:0001819	synonymous_variant	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2502A>T	3.37:g.37792021A>T			Q14638	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S834	ENST00000264741.5	37	c.2502	CCDS2669.1	3																																																																																			ITGA9	-	pfam_Integrin_alpha-2		0.478	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	A	NM_002207		37792021	+1	no_errors	ENST00000264741	ensembl	human	known	70_37	silent	SNP	0.034	T
IQCJ-SCHIP1	100505385	genome.wustl.edu	37	3	159482297	159482297	+	Silent	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr3:159482297C>T	ENST00000460298.1	+	2	289	c.48C>T	c.(46-48)gcC>gcT	p.A16A	IQCJ-SCHIP1_ENST00000412423.2_Silent_p.A43A|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.A119A|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000337808.6_Silent_p.A43A|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.A92A|IQCJ-SCHIP1-AS1_ENST00000460574.1_RNA					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						gcagcCGCGCCAGTTCACAGT	0.622																																																	0													23.0	24.0	24.0					3																	159482297		2200	4297	6497	SO:0001819	synonymous_variant	100505385				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.48C>T	3.37:g.159482297C>T				Silent	SNP	pfam_SCHIP_1	p.A119	ENST00000460298.1	37	c.357		3																																																																																			IQCJ-SCHIP1	-	NULL		0.622	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	IQCJ-SCHIP1	HGNC	protein_coding	OTTHUMT00000352558.2	C	NM_001197113		159482297	+1	no_errors	ENST00000485419	ensembl	human	known	70_37	silent	SNP	1.000	T
GALK1	2584	genome.wustl.edu	37	17	73751271	73751271	+	Intron	SNP	C	C	T	rs148725082		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr17:73751271C>T	ENST00000225614.2	-	8	1301				ITGB4_ENST00000200181.3_Intron|ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000449880.2_Missense_Mutation_p.P1495L|ITGB4_ENST00000339591.3_Missense_Mutation_p.P1495L|ITGB4_ENST00000450894.3_Intron			P51570	GALK1_HUMAN	galactokinase 1						carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGGAGGCCAGCAGCGCCC	0.657																																																	0													25.0	29.0	28.0					17																	73751271		2203	4299	6502	SO:0001627	intron_variant	3691				CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000225614.2:c.1176+2843G>A	17.37:g.73751271C>T			B2RC07|B4E1G6	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.P1495L	ENST00000225614.2	37	c.4484	CCDS11728.1	17	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541393	0.65085	.	.	ENSG00000132470	ENST00000339591;ENST00000449880	T;T	0.73469	-0.75;-0.75	5.26	5.26	0.73747	.	.	.	.	.	T	0.71484	0.3345	.	.	.	0.80722	D	1	P	0.39250	0.665	B	0.43728	0.429	T	0.68006	-0.5523	8	0.23302	T	0.38	.	16.0285	0.80560	0.0:1.0:0.0:0.0	.	1495	P16144-3	.	L	1495	ENSP00000344079:P1495L;ENSP00000400217:P1495L	ENSP00000344079:P1495L	P	+	2	0	ITGB4	71262866	0.972000	0.33761	1.000000	0.80357	0.986000	0.74619	2.058000	0.41374	2.455000	0.83008	0.561000	0.74099	CCA	ITGB4	-	pirsf_Integrin_bsu-4		0.657	GALK1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448427.1	C			73751271	+1	no_errors	ENST00000339591	ensembl	human	known	70_37	missense	SNP	0.995	T
KIAA1804	84451	genome.wustl.edu	37	1	233482309	233482309	+	Silent	SNP	C	C	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:233482309C>A	ENST00000366624.3	+	2	1188	c.927C>A	c.(925-927)gcC>gcA	p.A309A	MLK4_ENST00000366623.3_Silent_p.A309A	NM_032435.2	NP_115811.2																					GCACCTATGCCTGGATGGCCC	0.478																																																	0													94.0	89.0	91.0					1																	233482309		2203	4300	6503	SO:0001819	synonymous_variant	84451																														ENST00000366624.3:c.927C>A	1.37:g.233482309C>A				Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.A309	ENST00000366624.3	37	c.927	CCDS1598.1	1																																																																																			MLK4	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.478	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	C			233482309	+1	no_errors	ENST00000366624	ensembl	human	known	70_37	silent	SNP	0.991	A
KIF25	3834	genome.wustl.edu	37	6	168396931	168396931	+	5'Flank	SNP	A	A	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:168396931A>T	ENST00000443060.2	+	0	0				KIF25_ENST00000515361.1_3'UTR|KIF25-AS1_ENST00000456585.1_lincRNA			Q9UIL4	KIF25_HUMAN	kinesin family member 25						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTTGGCTGCCATGCAGACGAT	0.642																																																	0													42.0	46.0	45.0					6																	168396931		691	1589	2280	SO:0001631	upstream_gene_variant	100505879			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035		6.37:g.168396931A>T	Exception_encountered		O94775|Q5SZU9	RNA	SNP	-	NULL	ENST00000443060.2	37	NULL	CCDS5305.1	6																																																																																			KIF25-AS1	-	-		0.642	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIF25-AS1	HGNC	protein_coding	OTTHUMT00000362509.1	A			168396931	-1	no_errors	ENST00000414364	ensembl	human	known	70_37	rna	SNP	0.000	T
KRTAP20-1	337975	genome.wustl.edu	37	21	31988847	31988847	+	Missense_Mutation	SNP	G	G	A	rs144753762		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr21:31988847G>A	ENST00000334664.2	+	1	98	c.74G>A	c.(73-75)cGt>cAt	p.R25H	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	25						intermediate filament (GO:0005882)				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TGTGGTTATCGTGGCTATGGA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18514	0.0		0.001	False		,,,				2504	0.0																0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	311.0	260.0	277.0		74	0.6	0.0	21	dbSNP_134	277	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRTAP20-1	NM_181615.1	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	25/57	31988847	3,13003	2203	4300	6503	SO:0001583	missense	337975			AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"""Keratin associated proteins"""	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.74G>A	21.37:g.31988847G>A	ENSP00000335503:p.Arg25His			Missense_Mutation	SNP	pfam_KRTAP	p.R25H	ENST00000334664.2	37	c.74	CCDS13603.1	21	.	.	.	.	.	.	.	.	.	.	G	6.912	0.537826	0.13188	4.54E-4	1.16E-4	ENSG00000244624	ENST00000334664	T	0.09630	2.96	3.53	0.598	0.17512	.	.	.	.	.	T	0.08179	0.0204	.	.	.	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.31971	-0.9924	8	0.87932	D	0	.	6.1441	0.20276	0.3684:0.0:0.6316:0.0	.	25	Q3LI63	KR201_HUMAN	H	25	ENSP00000335503:R25H	ENSP00000335503:R25H	R	+	2	0	KRTAP20-1	30910718	0.006000	0.16342	0.003000	0.11579	0.122000	0.20287	0.066000	0.14489	-0.009000	0.14296	-0.772000	0.03388	CGT	KRTAP20-1	-	pfam_KRTAP		0.458	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP20-1	HGNC	protein_coding	OTTHUMT00000128253.3	G			31988847	+1	no_errors	ENST00000334664	ensembl	human	known	70_37	missense	SNP	0.006	A
LATS1	9113	genome.wustl.edu	37	6	149997697	149997697	+	Nonsense_Mutation	SNP	G	G	A	rs145871963		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:149997697G>A	ENST00000543571.1	-	6	3317	c.2770C>T	c.(2770-2772)Cga>Tga	p.R924*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.R924*|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTACCTGTTCGTAGCAACACT	0.423																																																	0								G	stop/ARG	0,4406		0,0,2203	58.0	59.0	59.0		2770	5.8	1.0	6	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	LATS1	NM_004690.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		924/1131	149997697	1,13005	2203	4300	6503	SO:0001587	stop_gained	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2770C>T	6.37:g.149997697G>A	ENSP00000437550:p.Arg924*			Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.R924*	ENST00000543571.1	37	c.2770	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.242566	0.99111	0.0	1.16E-4	ENSG00000131023	ENST00000543571;ENST00000253339	.	.	.	5.81	5.81	0.92471	.	0.000000	0.47455	D	0.000230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0833	0.97789	0.0:0.0:1.0:0.0	.	.	.	.	X	924	.	.	R	-	1	2	LATS1	150039390	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.359000	0.66074	2.756000	0.94617	0.655000	0.94253	CGA	LATS1	-	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		0.423	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		149997697	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LDLRAD3	143458	genome.wustl.edu	37	11	36057766	36057766	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:36057766G>A	ENST00000315571.5	+	2	181	c.160G>A	c.(160-162)Gac>Aac	p.D54N	LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	54	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CGGGCTGCCTGACTGCTTCGA	0.622																																																	0													100.0	94.0	96.0					11																	36057766		2202	4298	6500	SO:0001583	missense	143458			AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.160G>A	11.37:g.36057766G>A	ENSP00000318607:p.Asp54Asn		B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.D54N	ENST00000315571.5	37	c.160	CCDS31462.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.382461	0.95967	.	.	ENSG00000179241	ENST00000545142;ENST00000315571	D	0.99005	-5.32	5.43	5.43	0.79202	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99211	0.9726	M	0.75150	2.29	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.99797	1.1034	10	0.62326	D	0.03	.	18.2104	0.89868	0.0:0.0:1.0:0.0	.	54	Q86YD5	LRAD3_HUMAN	N	54	ENSP00000318607:D54N	ENSP00000318607:D54N	D	+	1	0	LDLRAD3	36014342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.288000	0.78691	2.537000	0.85549	0.655000	0.94253	GAC	LDLRAD3	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.622	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD3	HGNC	protein_coding	OTTHUMT00000389085.1	G	NM_174902		36057766	+1	no_errors	ENST00000315571	ensembl	human	known	70_37	missense	SNP	1.000	A
LHX2	9355	genome.wustl.edu	37	9	126795395	126795396	+	3'UTR	INS	-	-	A	rs11404693|rs398012191	byFrequency	TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr9:126795395_126795396insA	ENST00000373615.4	+	0	2369_2370				RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2						axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ATGTAAAAAACAAAAAAAACAA	0.297													AAAAAAA|AAAAAAAA|AAAAAAAAA|cryptic_indel	792	0.158147	0.0303	0.2637	5008	,	,		19421	0.3294		0.1083	False		,,,				2504	0.1309																0																																										SO:0001624	3_prime_UTR_variant	9355			U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.*410->A	9.37:g.126795403_126795403dupA			O95860|Q52M57|Q8N1Z3	RNA	INS	-	NULL	ENST00000373615.4	37	NULL	CCDS6853.1	9																																																																																			LHX2	-	-		0.297	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX2	HGNC	protein_coding	OTTHUMT00000054010.2	-			126795396	+1	no_errors	ENST00000488674	ensembl	human	known	70_37	rna	INS	0.992:0.989	A
GOLGA2P7	388152	genome.wustl.edu	37	15	84868725	84868726	+	RNA	DEL	GG	GG	-	rs372945855		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr15:84868725_84868726delGG	ENST00000559668.1	-	0	3589_3590					NR_049748.1																						GGGGGGGGGAGGGGTGGGATGT	0.708																																																	0																																												642423																															15.37:g.84868727_84868728delGG				RNA	DEL	-	NULL	ENST00000559668.1	37	NULL		15																																																																																			AC103965.1	-	-		0.708	AC103965.1-008	KNOWN	basic	processed_transcript	LOC642423	Clone_based_vega_gene	pseudogene	OTTHUMT00000418802.1	GG			84868726	-1	no_errors	ENST00000316967	ensembl	human	known	70_37	rna	DEL	0.187:0.139	-
LRRC55	219527	genome.wustl.edu	37	11	56949718	56949719	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:56949718_56949719CA>AG	ENST00000497933.1	+	1	498_499	c.351_352CA>AG	c.(349-354)caCAac>caAGac	p.117_118HN>QD		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	87					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCCTGGCCCACAACCGCATCAC	0.594																																																	0																																										SO:0001583	missense	219527				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	Exception_encountered	11.37:g.56949718_56949719delinsAG	ENSP00000419542:p.H117_N118delinsQD		A7E2U7|B2RN81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H117Q|p.N118D	ENST00000497933.1	37	c.351|c.352	CCDS31539.1	11																																																																																			LRRC55	-	smart_Leu-rich_rpt_typical-subtyp		0.594	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC55	HGNC	protein_coding	OTTHUMT00000354503.2	C|A	NM_001005210		56949718|56949719	+1	no_errors	ENST00000497933	ensembl	human	known	70_37	missense	SNP	1.000	A|G
SLC16A9	220963	genome.wustl.edu	37	10	61496870	61496870	+	5'Flank	SNP	A	A	G			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr10:61496870A>G	ENST00000395347.1	-	0	0				LINC00948_ENST00000600486.1_lincRNA			Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9						urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AAAGATAACAAACAAAATTTT	0.289																																																	0																																										SO:0001631	upstream_gene_variant	100507027			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283		10.37:g.61496870A>G	Exception_encountered		Q6ZMI2|Q9UFH8	RNA	SNP	-	NULL	ENST00000395347.1	37	NULL	CCDS7256.1	10																																																																																			RP11-59J5.1	-	-		0.289	SLC16A9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	M1	Clone_based_vega_gene	protein_coding	OTTHUMT00000276891.1	A	NM_194298		61496870	-1	no_errors	ENST00000414264	ensembl	human	known	70_37	rna	SNP	0.993	G
MEF2A	4205	genome.wustl.edu	37	15	100211754	100211754	+	Silent	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr15:100211754C>T	ENST00000354410.5	+	5	917	c.288C>T	c.(286-288)tgC>tgT	p.C96C	MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000558812.1_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	96					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ACAGAGGGTGCGACAGCCCAG	0.348																																																	0													90.0	76.0	80.0					15																	100211754		1848	4082	5930	SO:0001819	synonymous_variant	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.288C>T	15.37:g.100211754C>T			B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Silent	SNP	pfam_HJURP_C,pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.C96	ENST00000354410.5	37	c.288	CCDS45362.1	15																																																																																			MEF2A	-	pfam_HJURP_C		0.348	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415980.1	C			100211754	+1	no_errors	ENST00000354410	ensembl	human	known	70_37	silent	SNP	1.000	T
MTMR3	8897	genome.wustl.edu	37	22	30415898	30415898	+	Silent	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr22:30415898G>A	ENST00000401950.2	+	17	2592	c.2250G>A	c.(2248-2250)ctG>ctA	p.L750L	CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Silent_p.L750L|MTMR3_ENST00000323630.5_Silent_p.L614L|MTMR3_ENST00000406629.1_Silent_p.L750L|MTMR3_ENST00000351488.3_Silent_p.L750L	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	750					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATGCTGCTCTGAGGAGCCATC	0.547																																																	0													74.0	73.0	73.0					22																	30415898		2203	4300	6503	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2250G>A	22.37:g.30415898G>A			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L750	ENST00000401950.2	37	c.2250	CCDS13870.1	22																																																																																			MTMR3	-	NULL		0.547	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	G	NM_021090		30415898	+1	no_errors	ENST00000401950	ensembl	human	known	70_37	silent	SNP	0.001	A
MUC6	4588	genome.wustl.edu	37	11	1017591	1017591	+	Missense_Mutation	SNP	C	C	T	rs200995870		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:1017591C>T	ENST00000421673.2	-	31	5260	c.5210G>A	c.(5209-5211)cGa>cAa	p.R1737Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1737	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAATGAGCTTCGGGATTGGCT	0.537																																																	0													573.0	570.0	571.0					11																	1017591		2179	4273	6452	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5210G>A	11.37:g.1017591C>T	ENSP00000406861:p.Arg1737Gln		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.R1737Q	ENST00000421673.2	37	c.5210	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	-	0.042	-1.280063	0.01398	.	.	ENSG00000184956	ENST00000421673	T	0.17054	2.3	2.07	-4.14	0.03892	.	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B	0.31625	0.332	B	0.12156	0.007	T	0.11060	-1.0603	9	0.12766	T	0.61	.	0.8772	0.01227	0.3471:0.0999:0.2744:0.2786	.	1737	Q6W4X9	MUC6_HUMAN	Q	1737	ENSP00000406861:R1737Q	ENSP00000406861:R1737Q	R	-	2	0	MUC6	1007591	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.823000	0.00181	-5.372000	0.00016	-5.258000	0.00001	CGA	MUC6	-	NULL		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	C	XM_290540		1017591	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	missense	SNP	0.000	T
MUC7	4589	genome.wustl.edu	37	4	71346991	71346991	+	Missense_Mutation	SNP	C	C	A	rs199677579		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr4:71346991C>A	ENST00000304887.5	+	3	720	c.530C>A	c.(529-531)cCa>cAa	p.P177Q	MUC7_ENST00000413702.1_Missense_Mutation_p.P177Q|MUC7_ENST00000456088.1_Missense_Mutation_p.P177Q|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	177	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GCAACTACACCAGCTCCACCA	0.542																																																	0													350.0	286.0	308.0					4																	71346991		2203	4300	6503	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.530C>A	4.37:g.71346991C>A	ENSP00000302021:p.Pro177Gln		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.P177Q	ENST00000304887.5	37	c.530	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279326	0.23307	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.45668	0.89;0.89;0.89	2.82	0.89	0.19218	.	.	.	.	.	T	0.22475	0.0542	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.19391	0.025	T	0.22941	-1.0202	8	.	.	.	2.7687	3.2443	0.06792	0.2566:0.5934:0.0:0.15	.	177	Q8TAX7	MUC7_HUMAN	Q	177	ENSP00000407422:P177Q;ENSP00000400585:P177Q;ENSP00000302021:P177Q	.	P	+	2	0	MUC7	71381580	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	0.357000	0.20199	0.187000	0.20147	0.591000	0.81541	CCA	MUC7	-	NULL		0.542	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	C	NM_152291		71346991	+1	no_errors	ENST00000304887	ensembl	human	known	70_37	missense	SNP	0.009	A
OR8B4	283162	genome.wustl.edu	37	11	124293926	124293926	+	Missense_Mutation	SNP	A	A	G			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:124293926A>G	ENST00000356130.3	-	1	863	c.842T>C	c.(841-843)gTt>gCt	p.V281A		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGCATGGGAACCACATTGGT	0.443																																																	0													97.0	94.0	95.0					11																	124293926		2201	4299	6500	SO:0001583	missense	283162			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.842T>C	11.37:g.124293926A>G	ENSP00000348449:p.Val281Ala		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V281A	ENST00000356130.3	37	c.842	CCDS31710.1	11	.	.	.	.	.	.	.	.	.	.	a	15.54	2.862797	0.51482	.	.	ENSG00000198657	ENST00000356130	T	0.36878	1.23	4.1	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.330899	0.21268	N	0.077368	T	0.30854	0.0778	N	0.21583	0.68	0.21719	N	0.999571	P	0.42692	0.787	P	0.53760	0.734	T	0.14448	-1.0472	10	0.66056	D	0.02	.	0.7177	0.00935	0.4647:0.2077:0.1284:0.1992	.	281	Q96RC9	OR8B4_HUMAN	A	281	ENSP00000348449:V281A	ENSP00000348449:V281A	V	-	2	0	OR8B4	123799136	0.006000	0.16342	0.998000	0.56505	0.969000	0.65631	1.367000	0.34204	0.880000	0.35969	0.533000	0.62120	GTT	OR8B4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B4	HGNC	protein_coding	OTTHUMT00000387055.1	A	NM_001005196		124293926	-1	no_errors	ENST00000356130	ensembl	human	putative	70_37	missense	SNP	0.478	G
PIR	8544	genome.wustl.edu	37	X	15444055	15444055	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chrX:15444055G>A	ENST00000380421.3	-	6	999	c.539C>T	c.(538-540)gCc>gTc	p.A180V	PIR_ENST00000380420.5_Missense_Mutation_p.A180V	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	180					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					GGAATGTTTGGCTCCTGGGTC	0.393																																					Ovarian(180;1587 2015 10555 34192 51653)												0													153.0	147.0	149.0					X																	15444055		2203	4300	6503	SO:0001583	missense	8544			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.539C>T	X.37:g.15444055G>A	ENSP00000369786:p.Ala180Val		Q5U0G0|Q6FHD2	Missense_Mutation	SNP	pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin	p.A180V	ENST00000380421.3	37	c.539	CCDS14167.1	X	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043479	0.36085	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.49432	0.78;0.78	5.63	5.63	0.86233	Cupin, RmlC-type (1);Pirin, C-terminal (1);RmlC-like jelly roll fold (1);	0.163209	0.53938	D	0.000053	T	0.48223	0.1488	M	0.74258	2.255	0.52501	D	0.999958	P	0.41929	0.765	B	0.36959	0.237	T	0.54268	-0.8319	10	0.46703	T	0.11	.	13.9518	0.64123	0.0:0.0:1.0:0.0	.	180	O00625	PIR_HUMAN	V	180	ENSP00000369785:A180V;ENSP00000369786:A180V	ENSP00000369785:A180V	A	-	2	0	PIR	15353976	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	5.804000	0.69135	2.365000	0.80145	0.594000	0.82650	GCC	PIR	-	pfam_Pirin_C_dom,superfamily_RmlC_Cupin,pirsf_Pirin		0.393	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1	G	NM_003662		15444055	-1	no_errors	ENST00000380420	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCD4	84812	genome.wustl.edu	37	2	219499242	219499242	+	Silent	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:219499242G>A	ENST00000450993.2	+	13	2124	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	PLCD4_ENST00000432688.1_Silent_p.Q627Q|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000417849.1_Silent_p.Q595Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	595	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATTTCCGCCAGAATGGCGGCT	0.527																																																	0													111.0	110.0	111.0					2																	219499242		1932	4124	6056	SO:0001819	synonymous_variant	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1785G>A	2.37:g.219499242G>A			Q53FS8	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.Q595	ENST00000450993.2	37	c.1785	CCDS46516.1	2																																																																																			PLCD4	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y		0.527	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	G			219499242	+1	no_errors	ENST00000417849	ensembl	human	known	70_37	silent	SNP	1.000	A
PPM1F	9647	genome.wustl.edu	37	22	22280022	22280022	+	Missense_Mutation	SNP	C	C	T	rs549205418		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr22:22280022C>T	ENST00000263212.5	-	7	1010	c.905G>A	c.(904-906)cGc>cAc	p.R302H	PPM1F_ENST00000397495.4_Missense_Mutation_p.R302H|PPM1F_ENST00000407142.1_Missense_Mutation_p.R134H|PPM1F_ENST00000538191.1_Missense_Mutation_p.R198H	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	302					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGCTTCAATGCGCGCCTTCTC	0.627																																																	0													61.0	49.0	53.0					22																	22280022		2203	4300	6503	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.905G>A	22.37:g.22280022C>T	ENSP00000263212:p.Arg302His		A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R302H	ENST00000263212.5	37	c.905	CCDS13796.1	22	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546539	0.86022	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.11	5.11	0.69529	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	D	0.85626	0.5740	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.90937	0.4794	10	0.87932	D	0	-15.7974	18.7172	0.91679	0.0:1.0:0.0:0.0	.	198;302;302	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	H	302;134;134;198;302	ENSP00000263212:R302H;ENSP00000384930:R134H;ENSP00000439915:R198H;ENSP00000380632:R302H	ENSP00000263212:R302H	R	-	2	0	PPM1F	20610022	1.000000	0.71417	0.983000	0.44433	0.160000	0.22226	7.369000	0.79578	2.665000	0.90641	0.655000	0.94253	CGC	PPM1F	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.627	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	C	NM_014634		22280022	-1	no_errors	ENST00000263212	ensembl	human	known	70_37	missense	SNP	1.000	T
PPP1R13L	10848	genome.wustl.edu	37	19	45895174	45895174	+	Silent	SNP	C	C	T	rs148594569	byFrequency	TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr19:45895174C>T	ENST00000418234.2	-	8	1857	c.1779G>A	c.(1777-1779)ccG>ccA	p.P593P	PPP1R13L_ENST00000360957.5_Silent_p.P593P	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	593	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGCTCTGGGACGGGGCCGGGG	0.637													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14911	0.0		0.0	False		,,,				2504	0.001				Pancreas(61;1447 1663 31419 50578)												0								C	,	0,4400		0,0,2200	25.0	30.0	29.0		1779,1779	-9.9	0.0	19	dbSNP_134	29	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous	PPP1R13L	NM_001142502.1,NM_006663.3	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	593/829,593/829	45895174	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	10848			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1779G>A	19.37:g.45895174C>T			Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.P593	ENST00000418234.2	37	c.1779	CCDS33050.1	19																																																																																			PPP1R13L	-	superfamily_SH3_domain		0.637	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	C	NM_006663		45895174	-1	no_errors	ENST00000360957	ensembl	human	known	70_37	silent	SNP	0.000	T
PRKG2	5593	genome.wustl.edu	37	4	82126091	82126091	+	Missense_Mutation	SNP	C	C	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr4:82126091C>A	ENST00000395578.1	-	2	227	c.111G>T	c.(109-111)ttG>ttT	p.L37F	PRKG2_ENST00000264399.1_Missense_Mutation_p.L37F|PRKG2_ENST00000418486.2_Missense_Mutation_p.L37F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	37					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CCTTCCTCCTCAACTCTCTCT	0.537																																																	0													107.0	101.0	103.0					4																	82126091		2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.111G>T	4.37:g.82126091C>A	ENSP00000378945:p.Leu37Phe		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.L37F	ENST00000395578.1	37	c.111	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233327	0.39498	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.83837	-1.77;-1.77;-1.77	5.1	4.24	0.50183	.	0.246151	0.33180	N	0.005188	T	0.69033	0.3066	L	0.27053	0.805	0.80722	D	1	B;P	0.37141	0.172;0.584	B;B	0.32149	0.059;0.141	T	0.70630	-0.4819	10	0.49607	T	0.09	-5.5421	8.7135	0.34397	0.1485:0.7734:0.0:0.078	.	37;37	E7EPE6;Q13237	.;KGP2_HUMAN	F	37	ENSP00000378945:L37F;ENSP00000264399:L37F;ENSP00000389038:L37F	ENSP00000264399:L37F	L	-	3	2	PRKG2	82345115	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.072000	0.30678	2.665000	0.90641	0.585000	0.79938	TTG	PRKG2	-	pirsf_cGMP-dependent_protein_kinase		0.537	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	C	NM_006259		82126091	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	missense	SNP	1.000	A
QTRTD1	79691	genome.wustl.edu	37	3	113798754	113798754	+	Splice_Site	SNP	C	C	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr3:113798754C>A	ENST00000493014.1	+	4	498	c.430C>A	c.(430-432)Ctc>Atc	p.L144I	QTRTD1_ENST00000479882.1_Splice_Site_p.L127I|QTRTD1_ENST00000485050.1_Splice_Site_p.L262I|QTRTD1_ENST00000281273.4_Splice_Site_p.L250I	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CTTTTACAGGCTCATATCTGG	0.388																																																	0													155.0	150.0	152.0					3																	113798754		2203	4300	6503	SO:0001630	splice_region_variant	79691			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.429-1C>A	3.37:g.113798754C>A				Missense_Mutation	SNP	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans	p.L250I	ENST00000493014.1	37	c.748	CCDS58845.1	3	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107203	0.20714	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.48	5.48	0.80851	.	0.136994	0.51477	D	0.000099	T	0.43411	0.1246	L	0.31420	0.93	0.44055	D	0.996797	B;B	0.28026	0.153;0.198	B;B	0.28011	0.078;0.085	T	0.38023	-0.9680	9	0.39692	T	0.17	.	8.689	0.34256	0.1618:0.7603:0.0:0.0779	.	144;250	B7Z472;Q9H974	.;QTRD1_HUMAN	I	262;250;127;144	.	ENSP00000281273:L250I	L	+	1	0	QTRTD1	115281444	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	2.791000	0.47829	2.583000	0.87209	0.555000	0.69702	CTC	QTRTD1	-	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans		0.388	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	QTRTD1	HGNC	protein_coding	OTTHUMT00000354711.1	C	NM_024638	Missense_Mutation	113798754	+1	no_errors	ENST00000281273	ensembl	human	known	70_37	missense	SNP	1.000	A
RBM25	58517	genome.wustl.edu	37	14	73578379	73578379	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr14:73578379G>C	ENST00000261973.7	+	16	2446	c.2161G>C	c.(2161-2163)Gat>Cat	p.D721H	RBM25_ENST00000527432.1_Missense_Mutation_p.D721H|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	721					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TGGTGAAGATGATAAAAATGC	0.403																																																	0													121.0	116.0	118.0					14																	73578379		2203	4300	6503	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2161G>C	14.37:g.73578379G>C	ENSP00000261973:p.Asp721His		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.D721H	ENST00000261973.7	37	c.2161	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527165	0.85706	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.12879	2.64;2.64	5.8	5.8	0.92144	.	0.043228	0.85682	D	0.000000	T	0.27419	0.0673	L	0.46157	1.445	0.80722	D	1	D	0.61697	0.99	P	0.55749	0.783	T	0.00068	-1.2140	10	0.39692	T	0.17	.	20.0493	0.97618	0.0:0.0:1.0:0.0	.	721	P49756	RBM25_HUMAN	H	721	ENSP00000261973:D721H;ENSP00000431150:D721H	ENSP00000261973:D721H	D	+	1	0	RBM25	72648132	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.745000	0.94114	0.491000	0.48974	GAT	RBM25	-	NULL		0.403	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	G	XM_027330		73578379	+1	no_errors	ENST00000261973	ensembl	human	known	70_37	missense	SNP	1.000	C
SATL1	340562	genome.wustl.edu	37	X	84362391	84362391	+	Silent	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chrX:84362391G>A	ENST00000395409.3	-	1	1583	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	SATL1_ENST00000332921.5_Silent_p.Y341Y|SATL1_ENST00000509231.1_Silent_p.Y528Y			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	341							N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTATTTGAAAGTAATCCATGC	0.463																																																	0													101.0	82.0	88.0					X																	84362391		2203	4300	6503	SO:0001819	synonymous_variant	340562			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1023C>T	X.37:g.84362391G>A			A0AVK7|E9PB72|Q5H8V9	Silent	SNP	superfamily_Acyl_CoA_acyltransferase	p.Y528	ENST00000395409.3	37	c.1584		X																																																																																			SATL1	-	superfamily_Acyl_CoA_acyltransferase		0.463	SATL1-202	KNOWN	basic|appris_principal	protein_coding	SATL1	HGNC	protein_coding		G	XM_291339		84362391	-1	no_errors	ENST00000509231	ensembl	human	known	70_37	silent	SNP	0.003	A
SECISBP2	79048	genome.wustl.edu	37	9	91964815	91964815	+	Missense_Mutation	SNP	C	C	G			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr9:91964815C>G	ENST00000375807.3	+	13	1934	c.1863C>G	c.(1861-1863)ttC>ttG	p.F621L	SECISBP2_ENST00000534113.2_Missense_Mutation_p.F553L|SECISBP2_ENST00000339901.4_Missense_Mutation_p.F548L	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	621					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ACACCACCTTCCCTAAGATCC	0.567																																																	0													123.0	102.0	109.0					9																	91964815		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1863C>G	9.37:g.91964815C>G	ENSP00000364965:p.Phe621Leu		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.F621L	ENST00000375807.3	37	c.1863	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	C	3.764	-0.048975	0.07407	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.70282	-0.47;-0.47;-0.47	4.73	2.84	0.33178	.	0.848684	0.10780	N	0.634999	T	0.46756	0.1409	N	0.16368	0.405	0.24923	N	0.991969	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.37731	-0.9693	10	0.02654	T	1	-0.2525	6.3016	0.21115	0.0:0.6697:0.0:0.3303	.	628;548;621	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	L	621;627;548;553	ENSP00000364965:F621L;ENSP00000364959:F548L;ENSP00000436650:F553L	ENSP00000364959:F548L	F	+	3	2	SECISBP2	91154635	0.698000	0.27777	0.954000	0.39281	0.914000	0.54420	2.120000	0.41968	1.210000	0.43336	0.655000	0.94253	TTC	SECISBP2	-	NULL		0.567	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	C	NM_024077		91964815	+1	no_errors	ENST00000375807	ensembl	human	known	70_37	missense	SNP	0.429	G
SLC22A6	9356	genome.wustl.edu	37	11	62747277	62747277	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr11:62747277C>T	ENST00000377871.3	-	7	1447	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	SLC22A6_ENST00000458333.2_Missense_Mutation_p.R394H|SLC22A6_ENST00000421062.2_Missense_Mutation_p.R394H|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R394H	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	394					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGCAGGCCGGCGACCCAGGGA	0.602																																																	0													53.0	52.0	53.0					11																	62747277		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1181G>A	11.37:g.62747277C>T	ENSP00000367102:p.Arg394His		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.R394H	ENST00000377871.3	37	c.1181	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854169	0.91355	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	M	0.93678	3.445	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.977;0.99;0.986;0.99	D	0.94571	0.7771	10	0.87932	D	0	.	14.5187	0.67835	0.0:1.0:0.0:0.0	.	394;394;394;394	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	H	394;373;394;394;394	ENSP00000353597:R394H;ENSP00000367102:R394H;ENSP00000396401:R394H;ENSP00000404441:R394H	ENSP00000353597:R394H	R	-	2	0	SLC22A6	62503853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.472000	0.80996	2.255000	0.74692	0.561000	0.74099	CGC	SLC22A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.602	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	C	NM_004790		62747277	-1	no_errors	ENST00000377871	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC9A1	6548	genome.wustl.edu	37	1	27440643	27440643	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:27440643G>A	ENST00000263980.3	-	2	1062	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F	SLC9A1_ENST00000374086.3_Missense_Mutation_p.L163F|SLC9A1_ENST00000545949.1_Intron	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	163					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGCAGGAAGAGGAAGAAGACG	0.632																																																	0													72.0	69.0	70.0					1																	27440643		2203	4300	6503	SO:0001583	missense	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.487C>T	1.37:g.27440643G>A	ENSP00000263980:p.Leu163Phe		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L163F	ENST00000263980.3	37	c.487	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262820	0.59431	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	T;T	0.15834	2.39;2.39	5.8	4.89	0.63831	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.17152	0.0412	L	0.39566	1.225	0.80722	D	1	B;B	0.26400	0.057;0.148	B;B	0.30782	0.081;0.12	T	0.03403	-1.1040	10	0.33940	T	0.23	.	13.8226	0.63331	0.0732:0.0:0.9268:0.0	.	163;163	P19634-2;P19634	.;SL9A1_HUMAN	F	163	ENSP00000263980:L163F;ENSP00000363199:L163F	ENSP00000263980:L163F	L	-	1	0	SLC9A1	27313230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.716000	0.74702	1.463000	0.47967	0.655000	0.94253	CTC	SLC9A1	-	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger		0.632	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	G	NM_003047		27440643	-1	no_errors	ENST00000263980	ensembl	human	known	70_37	missense	SNP	1.000	A
SLCO6A1	133482	genome.wustl.edu	37	5	101834431	101834431	+	Missense_Mutation	SNP	T	T	C			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr5:101834431T>C	ENST00000506729.1	-	1	289	c.118A>G	c.(118-120)Aag>Gag	p.K40E	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.K40E|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.K40E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.K40E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.K40E|RP11-58B2.1_ENST00000502494.1_RNA			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCGAGGACTTCGGGGTTCCC	0.592																																																	0													119.0	135.0	130.0					5																	101834431		2203	4300	6503	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.118A>G	5.37:g.101834431T>C	ENSP00000421339:p.Lys40Glu		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.K40E	ENST00000506729.1	37	c.118	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	T	3.185	-0.167106	0.06461	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.46451	0.98;0.98;0.95;0.87;0.87	3.37	-1.82	0.07857	.	27.811000	0.00166	N	0.000002	T	0.19967	0.0480	N	0.12182	0.205	0.09310	N	1	P;P;B	0.41232	0.712;0.743;0.116	B;B;B	0.34873	0.054;0.191;0.055	T	0.25293	-1.0136	10	0.02654	T	1	.	8.4726	0.32995	0.0:0.6612:0.0:0.3388	.	40;40;40	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	E	40	ENSP00000421339:K40E;ENSP00000369135:K40E;ENSP00000373671:K40E;ENSP00000421990:K40E;ENSP00000369138:K40E	ENSP00000369135:K40E	K	-	1	0	SLCO6A1	101862330	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.293000	0.08320	-0.345000	0.08325	-0.425000	0.05940	AAG	SLCO6A1	-	NULL		0.592	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	T	NM_173488		101834431	-1	no_errors	ENST00000379807	ensembl	human	known	70_37	missense	SNP	0.000	C
SRSF1	6426	genome.wustl.edu	37	17	56083298	56083298	+	Missense_Mutation	SNP	T	T	C			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr17:56083298T>C	ENST00000258962.4	-	3	624	c.416A>G	c.(415-417)gAt>gGt	p.D139G	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.D139G|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.D139G	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	139	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGCATGTGATCCTTTAAATC	0.403																																																	0													100.0	80.0	87.0					17																	56083298		2203	4300	6503	SO:0001583	missense	6426				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.416A>G	17.37:g.56083298T>C	ENSP00000258962:p.Asp139Gly		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D139G	ENST00000258962.4	37	c.416	CCDS11600.1	17	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489691	0.44249	.	.	ENSG00000136450	ENST00000258962	T	0.19250	2.16	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68739	-0.5329	10	0.87932	D	0	.	16.1864	0.81955	0.0:0.0:0.0:1.0	.	171;139	Q59FA2;Q07955	.;SRSF1_HUMAN	G	139	ENSP00000258962:D139G	ENSP00000258962:D139G	D	-	2	0	SRSF1	53438297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.281000	0.76405	0.528000	0.53228	GAT	SRSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.403	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF1	HGNC	protein_coding	OTTHUMT00000443335.1	T	NM_006924		56083298	-1	no_errors	ENST00000258962	ensembl	human	known	70_37	missense	SNP	1.000	C
SRSF5	6430	genome.wustl.edu	37	14	70235906	70235906	+	Missense_Mutation	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr14:70235906C>T	ENST00000553521.1	+	6	1757	c.304C>T	c.(304-306)Cca>Tca	p.P102S	SRSF5_ENST00000394366.2_Missense_Mutation_p.P102S|SRSF5_ENST00000557154.1_Missense_Mutation_p.P102S|SRSF5_ENST00000553635.1_Missense_Mutation_p.P99S|SRSF5_ENST00000554021.1_Missense_Mutation_p.P102S|SRSF5_ENST00000451983.2_Missense_Mutation_p.P102S|SRSF5_ENST00000555349.1_Missense_Mutation_p.P102S|SRSF5_ENST00000553548.1_3'UTR|SRSF5_ENST00000556587.1_3'UTR			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	102					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						CAGAAATGCTCCACCTGTAAG	0.388																																																	0													64.0	64.0	64.0					14																	70235906		2203	4300	6503	SO:0001583	missense	6430			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.304C>T	14.37:g.70235906C>T	ENSP00000452123:p.Pro102Ser		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P102S	ENST00000553521.1	37	c.304	CCDS32109.1	14	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486387	0.63962	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T	0.35048	2.91;2.91;1.33;2.91;1.33;2.17;1.38;1.33	5.52	5.52	0.82312	.	0.098018	0.64402	D	0.000001	T	0.57272	0.2042	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.972;0.996	T	0.56214	-0.8016	10	0.56958	D	0.05	.	19.4584	0.94904	0.0:1.0:0.0:0.0	.	99;102	Q13243-3;Q13243	.;SRSF5_HUMAN	S	102;102;102;102;102;99;102;102	ENSP00000452123:P102S;ENSP00000377892:P102S;ENSP00000452449:P102S;ENSP00000451088:P102S;ENSP00000402734:P102S;ENSP00000451391:P99S;ENSP00000452090:P102S;ENSP00000450918:P102S	ENSP00000377892:P102S	P	+	1	0	SRSF5	69305659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.016000	0.70798	2.581000	0.87130	0.655000	0.94253	CCA	SRSF5	-	NULL		0.388	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	C	NM_001039465		70235906	+1	no_errors	ENST00000451983	ensembl	human	known	70_37	missense	SNP	1.000	T
ST6GALNAC3	256435	genome.wustl.edu	37	1	76779548	76779548	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:76779548G>A	ENST00000328299.3	+	2	225	c.77G>A	c.(76-78)cGt>cAt	p.R26H		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	26					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTGGTTGTGCGTCTTGTAAAT	0.413																																																	0													215.0	188.0	197.0					1																	76779548		2203	4300	6503	SO:0001583	missense	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.77G>A	1.37:g.76779548G>A	ENSP00000329214:p.Arg26His		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R26H	ENST00000328299.3	37	c.77	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789456	0.70337	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.30714	1.52	5.26	4.34	0.51931	.	0.360211	0.31673	N	0.007242	T	0.07773	0.0195	N	0.14661	0.345	0.39504	D	0.968258	B;B	0.15719	0.004;0.014	B;B	0.12156	0.001;0.007	T	0.12734	-1.0536	10	0.15499	T	0.54	-35.0948	12.3621	0.55209	0.0815:0.0:0.9185:0.0	.	26;26	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	H	26;26;25	ENSP00000329214:R26H	ENSP00000329214:R26H	R	+	2	0	ST6GALNAC3	76552136	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.754000	0.55189	2.462000	0.83206	0.491000	0.48974	CGT	ST6GALNAC3	-	NULL		0.413	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	G	NM_152996		76779548	+1	no_errors	ENST00000328299	ensembl	human	known	70_37	missense	SNP	1.000	A
TLR2	7097	genome.wustl.edu	37	4	154624095	154624095	+	Silent	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr4:154624095G>A	ENST00000260010.6	+	1	1444	c.36G>A	c.(34-36)ggG>ggA	p.G12G		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	12					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GGGTCTTGGGGGTCATCATCA	0.458																																																	0													108.0	105.0	106.0					4																	154624095		2203	4300	6503	SO:0001819	synonymous_variant	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.36G>A	4.37:g.154624095G>A			B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1	p.G12	ENST00000260010.6	37	c.36	CCDS3784.1	4																																																																																			TLR2	-	pirsf_Toll-like_receptor		0.458	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	G			154624095	+1	no_errors	ENST00000260010	ensembl	human	known	70_37	silent	SNP	0.002	A
TRIM16L	147166	genome.wustl.edu	37	17	18638256	18638256	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr17:18638256G>A	ENST00000449552.2	+	7	2014	c.530G>A	c.(529-531)cGc>cAc	p.R177H	TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177H|TRIM16L_ENST00000414850.2_Missense_Mutation_p.A90T|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231H|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177H|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177H			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	177	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GAGGAGAACCGCAAGGTCACC	0.607																																																	0													44.0	40.0	42.0					17																	18638256		2203	4298	6501	SO:0001583	missense	147166			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.530G>A	17.37:g.18638256G>A	ENSP00000461386:p.Arg177His		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.R231H	ENST00000449552.2	37	c.692	CCDS32588.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.644|6.644	0.487301|0.487301	0.12641|0.12641	.|.	.|.	ENSG00000108448|ENSG00000108448	ENST00000414850|ENST00000395902;ENST00000395672;ENST00000395671	.|T;T;T	.|0.13901	.|2.55;2.55;2.55	3.54|3.54	2.45|2.45	0.29901|0.29901	.|Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	.|0.370611	.|0.22137	.|U	.|0.064105	T|T	0.16214|0.16214	0.0390|0.0390	M|M	0.75264|0.75264	2.295|2.295	0.29245|0.29245	N|N	0.872389|0.872389	P|P;P;P	0.46952|0.44309	0.887|0.832;0.821;0.832	B|B;B;B	0.29176|0.40741	0.099|0.299;0.339;0.299	T|T	0.08848|0.08848	-1.0702|-1.0702	8|10	0.18276|0.52906	T|T	0.48|0.07	-16.7341|-16.7341	7.7378|7.7378	0.28825|0.28825	0.1474:0.0:0.8525:0.0|0.1474:0.0:0.8525:0.0	.|.	90|231;393;177	B4DWQ8|B4DE22;B3KMJ2;Q309B1	.|.;.;TR16L_HUMAN	T|H	90|231;177;177	.|ENSP00000379239:R231H;ENSP00000379031:R177H;ENSP00000379030:R177H	ENSP00000403648:A90T|ENSP00000379030:R177H	A|R	+|+	1|2	0|0	TRIM16L|TRIM16L	18578981|18578981	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.285000|0.285000	0.27093|0.27093	1.207000|1.207000	0.32333|0.32333	1.817000|1.817000	0.53016|0.53016	0.194000|0.194000	0.17425|0.17425	GCA|CGC	TRIM16L	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY		0.607	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	HGNC	protein_coding	OTTHUMT00000130670.3	G	NM_001037330		18638256	+1	no_errors	ENST00000395902	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIO	7204	genome.wustl.edu	37	5	14461388	14461389	+	Frame_Shift_Ins	INS	-	-	CGGC			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr5:14461388_14461389insCGGC	ENST00000344204.4	+	35	5488_5489	c.5464_5465insCGGC	c.(5464-5466)gcgfs	p.A1822fs	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Frame_Shift_Ins_p.A1822fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1822					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGACGACAGTGCGGCCACCCCG	0.688																																																	0																																										SO:0001589	frameshift_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5465_5468dupCGGC	5.37:g.14461389_14461392dupCGGC	ENSP00000339299:p.Ala1822fs		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Frame_Shift_Ins	INS	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.T1824fs	ENST00000344204.4	37	c.5464_5465	CCDS3883.1	5																																																																																			TRIO	-	NULL		0.688	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	NM_007118		14461389	+1	no_errors	ENST00000344204	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	CGGC
TTC33	23548	genome.wustl.edu	37	5	40728489	40728489	+	Silent	SNP	C	C	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr5:40728489C>T	ENST00000337702.4	-	4	545	c.393G>A	c.(391-393)caG>caA	p.Q131Q	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	131										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GTCCCAAAGTCTGCCAAGACT	0.393																																																	0													85.0	84.0	84.0					5																	40728489		2203	4300	6503	SO:0001819	synonymous_variant	23548			BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.393G>A	5.37:g.40728489C>T			B2R6G0|O95105	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q131	ENST00000337702.4	37	c.393	CCDS3931.1	5																																																																																			TTC33	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.393	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC33	HGNC	protein_coding	OTTHUMT00000253831.1	C	NM_012382		40728489	-1	no_errors	ENST00000337702	ensembl	human	known	70_37	silent	SNP	0.816	T
UTRN	7402	genome.wustl.edu	37	6	145148812	145148812	+	Splice_Site	DEL	G	G	-			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr6:145148812delG	ENST00000367545.3	+	67	9599	c.9599delG	c.(9598-9600)cga>ca	p.R3200fs	UTRN_ENST00000367526.4_Splice_Site_p.R755fs	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3200					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TATGCCACACGGTAAGAAACT	0.353																																																	0													77.0	76.0	76.0					6																	145148812		2203	4300	6503	SO:0001630	splice_region_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9599+1G>-	6.37:g.145148812delG			Q5SYY1|Q5SZ57|Q9UJ40	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.R3200fs	ENST00000367545.3	37	c.9599	CCDS34547.1	6																																																																																			UTRN	-	pirsf_Dystrophin/utrophin		0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	G		Frame_Shift_Del	145148812	+1	no_errors	ENST00000367545	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
VWA3B	200403	genome.wustl.edu	37	2	98779316	98779316	+	Missense_Mutation	SNP	G	G	A			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr2:98779316G>A	ENST00000477737.1	+	8	1195	c.991G>A	c.(991-993)Gct>Act	p.A331T	VWA3B_ENST00000435344.1_Missense_Mutation_p.A331T|VWA3B_ENST00000451075.2_Missense_Mutation_p.A181T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	331										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						CCTTTTAGGAGCTGGAGTCAG	0.617																																																	0													43.0	45.0	44.0					2																	98779316		2101	4235	6336	SO:0001583	missense	200403			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.991G>A	2.37:g.98779316G>A	ENSP00000417955:p.Ala331Thr		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A331T	ENST00000477737.1	37	c.991	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	2.153	-0.394000	0.04899	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.24350	1.86;3.3;2.43	4.68	4.68	0.58851	.	0.100619	0.43747	N	0.000534	T	0.25791	0.0628	L	0.59436	1.845	0.34395	D	0.694587	P;D;P	0.53312	0.894;0.959;0.89	B;B;B	0.43623	0.314;0.425;0.374	T	0.29941	-0.9995	10	0.14252	T	0.57	.	12.9809	0.58564	0.0:0.0:1.0:0.0	.	181;331;331	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	T	331;331;181	ENSP00000401959:A331T;ENSP00000417955:A331T;ENSP00000389463:A181T	ENSP00000411168:A331T	A	+	1	0	VWA3B	98145748	1.000000	0.71417	0.991000	0.47740	0.021000	0.10359	4.536000	0.60636	2.428000	0.82296	0.650000	0.86243	GCT	VWA3B	-	NULL		0.617	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	G	NM_144992		98779316	+1	no_errors	ENST00000477737	ensembl	human	known	70_37	missense	SNP	0.995	A
WDR63	126820	genome.wustl.edu	37	1	85555822	85555822	+	Missense_Mutation	SNP	C	C	T	rs149091067		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr1:85555822C>T	ENST00000294664.6	+	8	944	c.764C>T	c.(763-765)aCg>aTg	p.T255M	WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	255										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AATGCTACTACGCAATATTAT	0.318													C|||	1	0.000199681	0.0	0.0	5008	,	,		12828	0.0		0.0	False		,,,				2504	0.001																0								C	MET/THR	1,4403	2.1+/-5.4	0,1,2201	45.0	47.0	46.0		764	2.2	0.0	1	dbSNP_134	46	3,8569	3.0+/-9.4	0,3,4283	yes	missense	WDR63	NM_145172.3	81	0,4,6484	TT,TC,CC		0.035,0.0227,0.0308	probably-damaging	255/892	85555822	4,12972	2202	4286	6488	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.764C>T	1.37:g.85555822C>T	ENSP00000294664:p.Thr255Met		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.T255M	ENST00000294664.6	37	c.764	CCDS702.1	1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360231	0.41801	2.27E-4	3.5E-4	ENSG00000162643	ENST00000294664	T	0.46819	0.86	5.63	2.25	0.28309	.	0.103719	0.64402	D	0.000004	T	0.48995	0.1531	M	0.78223	2.4	0.21822	N	0.999526	D	0.76494	0.999	P	0.59424	0.857	T	0.42565	-0.9444	10	0.48119	T	0.1	-12.7912	11.9077	0.52721	0.0:0.7721:0.0:0.2279	.	255	Q8IWG1	WDR63_HUMAN	M	255	ENSP00000294664:T255M	ENSP00000294664:T255M	T	+	2	0	WDR63	85328410	0.865000	0.29922	0.013000	0.15412	0.618000	0.37518	1.776000	0.38594	0.711000	0.32018	0.591000	0.81541	ACG	WDR63	-	NULL		0.318	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	HGNC	protein_coding	OTTHUMT00000027565.2	C	NM_145172		85555822	+1	no_errors	ENST00000294664	ensembl	human	known	70_37	missense	SNP	0.114	T
ZNF784	147808	genome.wustl.edu	37	19	56133145	56133145	+	Missense_Mutation	SNP	G	G	T			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr19:56133145G>T	ENST00000325351.4	-	2	983	c.944C>A	c.(943-945)gCg>gAg	p.A315E	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	315					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTTCACCTTCGCGGTCTCCCC	0.716																																																	0													27.0	28.0	27.0					19																	56133145		2203	4300	6503	SO:0001583	missense	147808			AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"""Zinc fingers, C2H2-type"""	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.944C>A	19.37:g.56133145G>T	ENSP00000320096:p.Ala315Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A315E	ENST00000325351.4	37	c.944	CCDS12930.1	19	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472450	0.43942	.	.	ENSG00000179922	ENST00000325351	T	0.08282	3.11	3.53	-6.99	0.01605	.	1.031410	0.07812	N	0.958350	T	0.03608	0.0103	N	0.19112	0.55	0.09310	N	0.999996	B	0.13594	0.008	B	0.12837	0.008	T	0.43410	-0.9393	10	0.37606	T	0.19	-0.038	0.2998	0.00271	0.3601:0.1388:0.2208:0.2803	.	315	Q8NCA9	ZN784_HUMAN	E	315	ENSP00000320096:A315E	ENSP00000320096:A315E	A	-	2	0	ZNF784	60824957	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-0.754000	0.04787	-1.026000	0.03330	0.313000	0.20887	GCG	ZNF784	-	NULL		0.716	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF784	HGNC	protein_coding	OTTHUMT00000453355.2	G	NM_203374		56133145	-1	no_errors	ENST00000325351	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF417	147687	genome.wustl.edu	37	19	58420942	58420942	+	Missense_Mutation	SNP	G	G	C			TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr19:58420942G>C	ENST00000312026.5	-	3	868	c.704C>G	c.(703-705)aCt>aGt	p.T235S	ZNF417_ENST00000595559.1_Missense_Mutation_p.T234S|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.T36S	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCCATCTCTAGTGAAAAGTTT	0.423																																																	0													18.0	18.0	18.0					19																	58420942		2089	4195	6284	SO:0001583	missense	147687			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.704C>G	19.37:g.58420942G>C	ENSP00000311319:p.Thr235Ser		B4DEU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T235S	ENST00000312026.5	37	c.704	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	12.62	1.991875	0.35131	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.32515	1.45;1.45	2.04	0.307	0.15811	.	.	.	.	.	T	0.24122	0.0584	L	0.45137	1.4	0.23254	N	0.998034	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.22836	-1.0205	9	0.49607	T	0.09	.	7.8627	0.29520	0.0:0.4225:0.5775:0.0	.	235;235	F5H0M9;Q8TAU3	.;ZN417_HUMAN	S	235;36	ENSP00000311319:T235S;ENSP00000442760:T36S	ENSP00000311319:T235S	T	-	2	0	ZNF417	63112754	0.020000	0.18652	0.004000	0.12327	0.766000	0.43426	-0.063000	0.11655	-0.037000	0.13646	0.291000	0.19559	ACT	ZNF417	-	NULL		0.423	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	G	NM_152475		58420942	-1	no_errors	ENST00000312026	ensembl	human	known	70_37	missense	SNP	0.961	C
ZNF891	101060200	genome.wustl.edu	37	12	133697995	133697995	+	Silent	SNP	T	T	C	rs34706348		TCGA-EX-A69M-01A-11D-A32I-09	TCGA-EX-A69M-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41b98960-ba0c-490d-b43d-75d8a1ff9e04	e6a488e7-6307-4b66-ab64-31b087b53e90	g.chr12:133697995T>C	ENST00000537226.1	-	2	862	c.510A>G	c.(508-510)ggA>ggG	p.G170G	CTD-2140B24.6_ENST00000606110.1_RNA|ZNF891_ENST00000397313.2_Silent_p.G170G	NM_001277291.1	NP_001264220.1	A8MT65	ZN891_HUMAN	zinc finger protein 891	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1						GCCTCCAATGTCCCCCTGGAA	0.393																																																	0																																										SO:0001819	synonymous_variant	101060200				CCDS59238.1	12q24.33	2014-01-23			ENSG00000214029	ENSG00000214029		"""Zinc fingers, C2H2-type"", ""-"""	38709	protein-coding gene	gene with protein product							Standard	NM_001277291		Approved		uc031qkm.1	A8MT65	OTTHUMG00000167943	ENST00000537226.1:c.510A>G	12.37:g.133697995T>C				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G170	ENST00000537226.1	37	c.510	CCDS59238.1	12																																																																																			ZNF891	-	NULL		0.393	ZNF891-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF891	HGNC	protein_coding	OTTHUMT00000397179.1	T			133697995	-1	no_errors	ENST00000397313	ensembl	human	known	70_37	silent	SNP	0.000	C
