#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ADAM21P1	145241	genome.wustl.edu	37	14	70713951	70713951	+	RNA	SNP	G	G	A	rs202183568		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr14:70713951G>A	ENST00000530196.1	-	0	567					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		TCAATTTCATGAGTGAGGCCG	0.438																																																	0																																												145241					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713951G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-		0.438	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	G	NG_002467		70713951	-1	no_errors	ENST00000530196	ensembl	human	known	70_37	rna	SNP	0.732	A
ADAMTS14	140766	genome.wustl.edu	37	10	72503424	72503424	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:72503424G>A	ENST00000373207.1	+	13	2045	c.2045G>A	c.(2044-2046)cGt>cAt	p.R682H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R685H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	682	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GTCTGTGCGCGTGGCGAGTGT	0.647																																																	0													80.0	57.0	65.0					10																	72503424		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2045G>A	10.37:g.72503424G>A	ENSP00000362303:p.Arg682His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R685H	ENST00000373207.1	37	c.2054	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908127	0.92107	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.68903	-0.36;-0.36	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.79919	0.4529	M	0.62723	1.935	0.46901	D	0.999244	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.972;0.972	T	0.78989	-0.1986	10	0.41790	T	0.15	.	17.9354	0.89011	0.0:0.0:1.0:0.0	.	615;682;685	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	H	685;682	ENSP00000362304:R685H;ENSP00000362303:R682H	ENSP00000362303:R682H	R	+	2	0	ADAMTS14	72173430	1.000000	0.71417	0.915000	0.36163	0.740000	0.42216	9.657000	0.98554	2.550000	0.86006	0.655000	0.94253	CGT	ADAMTS14	-	prints_Peptidase_M12B_ADAM-TS		0.647	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72503424	+1	no_errors	ENST00000373208	ensembl	human	known	70_37	missense	SNP	0.994	A
ALDH3A1	218	genome.wustl.edu	37	17	19642955	19642955	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:19642955A>G	ENST00000457500.2	-	7	1311	c.982T>C	c.(982-984)Tcc>Ccc	p.S328P	ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.S328P|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.S255P|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.S328P	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	328					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		ATCACCGGGGACTGGGGGTCC	0.637																																																	0													47.0	44.0	45.0					17																	19642955		2203	4300	6503	SO:0001583	missense	218			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.982T>C	17.37:g.19642955A>G	ENSP00000411821:p.Ser328Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K828|Q9BT37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.S328P	ENST00000457500.2	37	c.982	CCDS11212.1	17	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778177	0.70107	.	.	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	4.82	3.73	0.42828	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.104998	0.64402	D	0.000002	D	0.89206	0.6649	M	0.92604	3.325	0.58432	D	0.999995	D;D;D	0.76494	0.991;0.999;0.991	D;D;D	0.70227	0.952;0.968;0.952	D	0.89579	0.3819	10	0.66056	D	0.02	-8.2628	10.9794	0.47486	0.8432:0.1568:0.0:0.0	.	328;445;328	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	P	328;386;328;328;255;328	ENSP00000225740:S328P;ENSP00000388469:S328P;ENSP00000411821:S328P;ENSP00000389766:S328P	ENSP00000225740:S328P	S	-	1	0	ALDH3A1	19583547	0.958000	0.32768	0.996000	0.52242	0.680000	0.39746	2.181000	0.42547	0.683000	0.31428	-0.313000	0.08912	TCC	ALDH3A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)		0.637	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	HGNC	protein_coding	OTTHUMT00000132265.4	A	NM_000691		19642955	-1	no_errors	ENST00000225740	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKRD31	256006	genome.wustl.edu	37	5	74414077	74414077	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:74414077C>G	ENST00000274361.3	-	17	3942	c.3751G>C	c.(3751-3753)Gat>Cat	p.D1251H	ANKRD31_ENST00000506364.2_Missense_Mutation_p.D1308H|ANKRD31_ENST00000504022.1_5'UTR	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	1251										endometrium(1)|kidney(4)	5						TGTTTTTGATCTTTTTGATTA	0.328																																																	0													266.0	208.0	225.0					5																	74414077		692	1591	2283	SO:0001583	missense	256006			AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.3751G>C	5.37:g.74414077C>G	ENSP00000274361:p.Asp1251His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D1251H	ENST00000274361.3	37	c.3751		5	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889595	0.52014	.	.	ENSG00000145700	ENST00000274361	T	0.72394	-0.65	5.25	1.04	0.20106	.	.	.	.	.	T	0.77890	0.4198	M	0.88512	2.96	0.23602	N	0.997317	.	.	.	.	.	.	T	0.68731	-0.5331	7	0.72032	D	0.01	.	4.7494	0.13054	0.0:0.5399:0.1722:0.2878	.	.	.	.	H	1251	ENSP00000274361:D1251H	ENSP00000274361:D1251H	D	-	1	0	ANKRD31	74449833	0.151000	0.22747	0.809000	0.32408	0.928000	0.56348	0.099000	0.15210	-0.044000	0.13491	-0.242000	0.12053	GAT	ANKRD31	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.328	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		C	NM_001164443		74414077	-1	no_errors	ENST00000274361	ensembl	human	known	70_37	missense	SNP	0.816	G
ARHGEF11	9826	genome.wustl.edu	37	1	156948141	156948141	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:156948141G>A	ENST00000361409.2	-	6	1107	c.365C>T	c.(364-366)tCt>tTt	p.S122F	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S122F	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	122	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAAGGTGAAGAGCCCAGGAG	0.587																																																	0													91.0	89.0	90.0					1																	156948141		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.365C>T	1.37:g.156948141G>A	ENSP00000354644:p.Ser122Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.S122F	ENST00000361409.2	37	c.365	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204412	0.79127	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.67698	-0.28;-0.26	4.68	4.68	0.58851	PDZ/DHR/GLGF (2);	0.000000	0.51477	D	0.000096	T	0.68366	0.2993	L	0.35487	1.065	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.949;0.969	T	0.72649	-0.4229	10	0.72032	D	0.01	-13.0243	16.8735	0.86045	0.0:0.0:1.0:0.0	.	122;122	O15085;O15085-2	ARHGB_HUMAN;.	F	122	ENSP00000357177:S122F;ENSP00000354644:S122F	ENSP00000354644:S122F	S	-	2	0	ARHGEF11	155214765	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.158000	0.77470	2.573000	0.86826	0.563000	0.77884	TCT	ARHGEF11	-	superfamily_PDZ,smart_PDZ		0.587	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	G	NM_198236		156948141	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	1.000	A
ASAH1	427	genome.wustl.edu	37	8	17916852	17916852	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:17916852C>T	ENST00000262097.6	-	12	1350	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	ASAH1_ENST00000417108.2_Missense_Mutation_p.E257K|ASAH1_ENST00000520781.1_Missense_Mutation_p.E322K|ASAH1_ENST00000314146.10_Missense_Mutation_p.E341K|ASAH1_ENST00000381733.4_Missense_Mutation_p.E363K	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	347					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		AAAGGTACCTCTTGGCTGGTG	0.423																																																	0													93.0	92.0	92.0					8																	17916852		2203	4300	6503	SO:0001583	missense	427			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.1039G>A	8.37:g.17916852C>T	ENSP00000262097:p.Glu347Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.E363K	ENST00000262097.6	37	c.1087	CCDS6006.1	8	.	.	.	.	.	.	.	.	.	.	C	6.467	0.454265	0.12283	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.53	4.65	0.58169	.	0.310514	0.40222	N	0.001158	T	0.71350	0.3329	L	0.35249	1.045	0.31642	N	0.647855	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.17979	0.02;0.011;0.013;0.013	T	0.64390	-0.6419	10	0.12430	T	0.62	-3.3718	9.1707	0.37078	0.0:0.7742:0.1469:0.0788	.	341;363;322;347	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	K	347;363;322;257;341	ENSP00000262097:E347K;ENSP00000371152:E363K;ENSP00000427751:E322K;ENSP00000394125:E257K;ENSP00000326970:E341K	ENSP00000262097:E347K	E	-	1	0	ASAH1	17961132	0.853000	0.29707	0.967000	0.41034	0.040000	0.13550	1.081000	0.30791	1.463000	0.47967	0.650000	0.86243	GAG	ASAH1	-	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like		0.423	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH1	HGNC	protein_coding	OTTHUMT00000214077.2	C	NM_004315		17916852	-1	no_errors	ENST00000381733	ensembl	human	known	70_37	missense	SNP	0.992	T
ATHL1	80162	genome.wustl.edu	37	11	290393	290393	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:290393C>T	ENST00000409548.2	+	3	378	c.263C>T	c.(262-264)tCc>tTc	p.S88F	ATHL1_ENST00000409479.1_Missense_Mutation_p.S88F|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA|ATHL1_ENST00000409655.1_5'UTR	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	88					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCCCAGGCTCCTTTCTTCAC	0.662																																																	0													6.0	7.0	7.0					11																	290393		690	1569	2259	SO:0001583	missense	80162			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.263C>T	11.37:g.290393C>T	ENSP00000387185:p.Ser88Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.S88F	ENST00000409548.2	37	c.263	CCDS31322.2	11	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882878	0.72410	.	.	ENSG00000142102	ENST00000409548;ENST00000409479	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	T	0.33294	0.0858	L	0.51422	1.61	0.31581	N	0.655128	P;B	0.46952	0.887;0.042	B;B	0.35688	0.208;0.032	T	0.38200	-0.9672	8	0.14656	T	0.56	.	15.466	0.75400	0.0:1.0:0.0:0.0	.	88;88	Q32M88;E7EMA9	ATHL1_HUMAN;.	F	88	.	ENSP00000387099:S88F	S	+	2	0	ATHL1	280393	0.935000	0.31712	1.000000	0.80357	0.802000	0.45316	1.835000	0.39181	1.950000	0.56595	0.561000	0.74099	TCC	ATHL1	-	NULL		0.662	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	C	NM_025092		290393	+1	no_errors	ENST00000409548	ensembl	human	known	70_37	missense	SNP	0.989	T
ATRX	546	genome.wustl.edu	37	X	76776919	76776919	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chrX:76776919C>T	ENST00000373344.5	-	33	7247	c.7033G>A	c.(7033-7035)Gtg>Atg	p.V2345M	ATRX_ENST00000395603.3_Missense_Mutation_p.V2307M|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2345					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGAATCCTCACTGCTGTCACA	0.398			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0													183.0	150.0	161.0					X																	76776919		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7033G>A	X.37:g.76776919C>T	ENSP00000362441:p.Val2345Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V2345M	ENST00000373344.5	37	c.7033	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	9.694	1.152651	0.21371	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92858	-3.11;-3.12	5.06	5.06	0.68205	.	0.178870	0.38548	N	0.001644	D	0.86669	0.5988	N	0.02539	-0.55	0.80722	D	1	P;P	0.47677	0.899;0.493	P;B	0.51355	0.667;0.107	D	0.89768	0.3952	10	0.44086	T	0.13	.	17.6044	0.88034	0.0:1.0:0.0:0.0	.	2307;2345	P46100-4;P46100	.;ATRX_HUMAN	M	2345;2307	ENSP00000362441:V2345M;ENSP00000378967:V2307M	ENSP00000362441:V2345M	V	-	1	0	ATRX	76663575	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.453000	0.44970	2.086000	0.62901	0.513000	0.50165	GTG	ATRX	-	NULL		0.398	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76776919	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	1.000	T
AURKAIP1	54998	genome.wustl.edu	37	1	1310002	1310002	+	Intron	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:1310002C>T	ENST00000338370.3	-	1	453				AURKAIP1_ENST00000338338.5_Intron|AURKAIP1_ENST00000378853.3_Intron|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000321751.5_Intron			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1						negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGTGGCCACCGGCCCTGCCC	0.662																																																	0																																										SO:0001627	intron_variant	54998				CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.52+82G>A	1.37:g.1310002C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TA36|Q8TBD3	RNA	SNP	-	NULL	ENST00000338370.3	37	NULL	CCDS25.1	1																																																																																			AURKAIP1	-	-		0.662	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKAIP1	HGNC	protein_coding	OTTHUMT00000008273.1	C	NM_017900		1310002	-1	no_errors	ENST00000489799	ensembl	human	putative	70_37	rna	SNP	0.000	T
B4GALT7	11285	genome.wustl.edu	37	5	177035597	177035597	+	Missense_Mutation	SNP	C	C	T	rs147617631	byFrequency	TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:177035597C>T	ENST00000029410.5	+	4	808	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	233					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)			CGAGTTCTACCGGCGCATTAA	0.632																																																	0								C	TRP/ARG	0,4406		0,0,2203	45.0	50.0	48.0		697	3.6	1.0	5	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	yes	missense	B4GALT7	NM_007255.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	233/328	177035597	2,13004	2203	4300	6503	SO:0001583	missense	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.697C>T	5.37:g.177035597C>T	ENSP00000029410:p.Arg233Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN39|Q9UHN2	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.R233W	ENST00000029410.5	37	c.697	CCDS4429.1	5	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586815	0.66105	0.0	2.33E-4	ENSG00000027847	ENST00000029410;ENST00000541139	T	0.35048	1.33	5.43	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	L	0.59912	1.85	0.80722	D	1	D	0.67145	0.996	D	0.65443	0.935	T	0.47182	-0.9137	10	0.44086	T	0.13	-29.9201	12.4854	0.55871	0.3042:0.6958:0.0:0.0	.	233	Q9UBV7	B4GT7_HUMAN	W	233;119	ENSP00000029410:R233W	ENSP00000029410:R233W	R	+	1	2	B4GALT7	176968203	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	1.797000	0.38804	0.618000	0.30179	0.313000	0.20887	CGG	B4GALT7	-	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met		0.632	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	HGNC	protein_coding	OTTHUMT00000253421.1	C	NM_007255		177035597	+1	no_errors	ENST00000029410	ensembl	human	known	70_37	missense	SNP	1.000	T
BAIAP3	8938	genome.wustl.edu	37	16	1392188	1392188	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr16:1392188C>G	ENST00000324385.5	+	11	1124	c.966C>G	c.(964-966)ttC>ttG	p.F322L	BAIAP3_ENST00000397488.2_Missense_Mutation_p.F304L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.F259L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.F287L|BAIAP3_ENST00000421665.2_Missense_Mutation_p.F287L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.F264L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.F304L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	322					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCAGGTACTTCAAACAGATCG	0.637																																																	0													80.0	72.0	75.0					16																	1392188		2198	4300	6498	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.966C>G	16.37:g.1392188C>G	ENSP00000324510:p.Phe322Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.F322L	ENST00000324385.5	37	c.966	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891141	0.52014	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.74002	-0.79;-0.8;-0.8;-0.8;-0.77	5.18	1.91	0.25777	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.116075	0.64402	N	0.000015	T	0.70386	0.3218	L	0.49571	1.57	0.58432	D	0.999994	D;D;P;P;P	0.58620	0.961;0.983;0.919;0.919;0.737	P;P;B;B;B	0.50970	0.655;0.606;0.324;0.324;0.24	T	0.64922	-0.6293	10	0.41790	T	0.15	-23.6137	5.6537	0.17631	0.0:0.6379:0.1608:0.2013	.	287;339;264;322;304	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	L	287;304;322;304;287	ENSP00000407242:F287L;ENSP00000380625:F304L;ENSP00000324510:F322L;ENSP00000380626:F304L;ENSP00000409533:F287L	ENSP00000324510:F322L	F	+	3	2	BAIAP3	1332189	1.000000	0.71417	0.997000	0.53966	0.787000	0.44495	1.105000	0.31086	0.133000	0.18654	0.579000	0.79373	TTC	BAIAP3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.637	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	C			1392188	+1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	1.000	G
BBS12	166379	genome.wustl.edu	37	4	123665085	123665085	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:123665085G>T	ENST00000314218.3	+	2	2231	c.2038G>T	c.(2038-2040)Gta>Tta	p.V680L	BBS12_ENST00000542236.1_Missense_Mutation_p.V680L	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	680					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ATTGGATTTAGTATTGTTAGT	0.368									Bardet-Biedl syndrome																																								0													82.0	85.0	84.0					4																	123665085		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.2038G>T	4.37:g.123665085G>T	ENSP00000319062:p.Val680Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.V680L	ENST00000314218.3	37	c.2038	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409187	0.62399	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.69685	-0.42;-0.42	5.91	5.07	0.68467	.	0.127880	0.51477	D	0.000082	T	0.79215	0.4408	M	0.74258	2.255	0.54753	D	0.999989	D	0.62365	0.991	P	0.61070	0.883	T	0.81915	-0.0714	10	0.66056	D	0.02	-18.4226	14.8207	0.70070	0.0683:0.0:0.9317:0.0	.	680	Q6ZW61	BBS12_HUMAN	L	680	ENSP00000319062:V680L;ENSP00000438273:V680L	ENSP00000319062:V680L	V	+	1	0	BBS12	123884535	1.000000	0.71417	0.190000	0.23270	0.322000	0.28314	6.977000	0.76141	1.503000	0.48686	0.655000	0.94253	GTA	BBS12	-	superfamily_Cpn60/TCP-1		0.368	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	G	NM_152618		123665085	+1	no_errors	ENST00000314218	ensembl	human	known	70_37	missense	SNP	0.999	T
C15orf59	388135	genome.wustl.edu	37	15	74032525	74032525	+	Silent	SNP	G	G	A	rs138360089		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr15:74032525G>A	ENST00000569673.1	-	3	1819	c.615C>T	c.(613-615)gaC>gaT	p.D205D	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.D205D			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	205										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						cctgctcaccgtccccctcct	0.652																																																	0								G		1,4395	2.1+/-5.4	0,1,2197	76.0	55.0	62.0		615	-10.3	0.0	15	dbSNP_134	62	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	C15orf59	NM_001039614.1		0,2,6493	AA,AG,GG		0.0116,0.0227,0.0154		205/294	74032525	2,12988	2198	4297	6495	SO:0001819	synonymous_variant	388135				CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.615C>T	15.37:g.74032525G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	superfamily_Polyketide_synth_docking	p.D205	ENST00000569673.1	37	c.615	CCDS32289.1	15																																																																																			C15orf59	-	NULL		0.652	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf59	HGNC	protein_coding	OTTHUMT00000419077.2	G	NM_001039614		74032525	-1	no_errors	ENST00000379822	ensembl	human	known	70_37	silent	SNP	0.000	A
C19orf12	83636	genome.wustl.edu	37	19	30193594	30193594	+	3'UTR	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:30193594C>G	ENST00000392278.2	-	0	610				C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392276.1_3'UTR|C19orf12_ENST00000592153.1_3'UTR|C19orf12_ENST00000323670.9_3'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12						cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TTTAAAGGGGCCCCCCACCTC	0.587																																																	0													25.0	31.0	29.0					19																	30193594		2073	4205	6278	SO:0001624	3_prime_UTR_variant	83636			AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.*25G>C	19.37:g.30193594C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	RNA	SNP	-	NULL	ENST00000392278.2	37	NULL	CCDS42542.1	19																																																																																			C19orf12	-	-		0.587	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	C19orf12	HGNC	protein_coding	OTTHUMT00000313509.2	C	NM_031448		30193594	-1	no_errors	ENST00000392275	ensembl	human	known	70_37	rna	SNP	0.000	G
ERICH3	127254	genome.wustl.edu	37	1	75055650	75055650	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:75055650C>G	ENST00000326665.5	-	12	2059	c.1841G>C	c.(1840-1842)aGt>aCt	p.S614T	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S417T	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		614	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTGGCACTTTCATCTGT	0.448																																																	0													92.0	88.0	89.0					1																	75055650		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.1841G>C	1.37:g.75055650C>G	ENSP00000322609:p.Ser614Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.S614T	ENST00000326665.5	37	c.1841	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	9.918	1.211335	0.22289	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.17854	2.68;2.25	5.26	2.19	0.27852	.	.	.	.	.	T	0.07863	0.0197	L	0.52573	1.65	0.09310	N	1	P;D	0.56521	0.933;0.976	P;P	0.51615	0.461;0.675	T	0.12682	-1.0538	9	0.13108	T	0.6	-0.0141	4.3734	0.11258	0.0:0.5858:0.2057:0.2085	.	417;614	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	T	614;417	ENSP00000322609:S614T;ENSP00000398581:S417T	ENSP00000322609:S614T	S	-	2	0	C1orf173	74828238	0.000000	0.05858	0.157000	0.22605	0.293000	0.27360	0.403000	0.20982	1.215000	0.43411	0.637000	0.83480	AGT	C1orf173	-	NULL		0.448	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75055650	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.006	G
CACNG7	59284	genome.wustl.edu	37	19	54416107	54416107	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:54416107G>A	ENST00000391767.1	+	2	234	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	CACNG7_ENST00000391766.1_Missense_Mutation_p.A8T|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.A8T			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	8					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CAGCAGCCGCGCCCTGACCCT	0.637																																																	0													54.0	45.0	48.0					19																	54416107		2203	4300	6503	SO:0001583	missense	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.22G>A	19.37:g.54416107G>A	ENSP00000375647:p.Ala8Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu	p.A8T	ENST00000391767.1	37	c.22	CCDS12868.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.353797	0.95830	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	T;T;T	0.77620	-0.15;-0.15;-1.11	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	L	0.29908	0.895	0.80722	D	1	D	0.55605	0.972	P	0.44990	0.466	T	0.66858	-0.5817	10	0.23302	T	0.38	-28.0889	14.6399	0.68717	0.0:0.0:1.0:0.0	.	8	P62955	CCG7_HUMAN	T	8	ENSP00000375647:A8T;ENSP00000222212:A8T;ENSP00000375646:A8T	ENSP00000222212:A8T	A	+	1	0	CACNG7	59107919	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.072000	0.93986	2.411000	0.81874	0.561000	0.74099	GCC	CACNG7	-	prints_VDCC_g7su		0.637	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	HGNC	protein_coding	OTTHUMT00000139240.2	G			54416107	+1	no_errors	ENST00000222212	ensembl	human	known	70_37	missense	SNP	1.000	A
CALHM1	255022	genome.wustl.edu	37	10	105215352	105215352	+	Silent	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:105215352C>T	ENST00000329905.5	-	2	844	c.708G>A	c.(706-708)acG>acA	p.T236T	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	236					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGGCGTGCTCCGTGCACGTCT	0.607																																																	0													90.0	71.0	77.0					10																	105215352		2203	4300	6503	SO:0001819	synonymous_variant	255022			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.708G>A	10.37:g.105215352C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W091	Silent	SNP	NULL	p.T236	ENST00000329905.5	37	c.708	CCDS7550.1	10																																																																																			CALHM1	-	NULL		0.607	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM1	HGNC	protein_coding	OTTHUMT00000050165.1	C	NM_001001412		105215352	-1	no_errors	ENST00000329905	ensembl	human	known	70_37	silent	SNP	0.078	T
CAMK2D	817	genome.wustl.edu	37	4	114469863	114469863	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:114469863C>G	ENST00000342666.5	-	6	363	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	CAMK2D_ENST00000394526.2_Missense_Mutation_p.E122Q|CAMK2D_ENST00000394522.3_Missense_Mutation_p.E122Q|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000418639.2_Missense_Mutation_p.E122Q|CAMK2D_ENST00000454265.2_Missense_Mutation_p.E122Q|CAMK2D_ENST00000515496.1_Missense_Mutation_p.E122Q|CAMK2D_ENST00000514328.1_Missense_Mutation_p.E122Q|CAMK2D_ENST00000429180.1_Missense_Mutation_p.E122Q|CAMK2D_ENST00000508738.1_Missense_Mutation_p.E122Q|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000296402.5_Missense_Mutation_p.E122Q|CAMK2D_ENST00000379773.2_Missense_Mutation_p.E122Q|CAMK2D_ENST00000394524.3_Missense_Mutation_p.E122Q			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTAACACTTTCTAGAATCTGC	0.338																																																	0													92.0	89.0	90.0					4																	114469863		2203	4300	6503	SO:0001583	missense	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.364G>C	4.37:g.114469863C>G	ENSP00000339740:p.Glu122Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E122Q	ENST00000342666.5	37	c.364	CCDS3703.1	4	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324153	0.81580	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	N	0.16656	0.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73512	-0.3959	10	0.66056	D	0.02	.	19.4502	0.94863	0.0:1.0:0.0:0.0	.	122;122;122;122	Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;KCC2D_HUMAN	Q	122	ENSP00000378032:E122Q;ENSP00000415248:E122Q;ENSP00000415707:E122Q;ENSP00000406131:E122Q;ENSP00000378034:E122Q;ENSP00000296402:E122Q;ENSP00000339740:E122Q;ENSP00000423482:E122Q;ENSP00000423677:E122Q;ENSP00000378030:E122Q;ENSP00000369098:E122Q;ENSP00000422566:E122Q	ENSP00000296402:E122Q	E	-	1	0	CAMK2D	114689312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.704000	0.68347	2.608000	0.88229	0.650000	0.86243	GAA	CAMK2D	-	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		0.338	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	CAMK2D	HGNC	protein_coding	OTTHUMT00000256420.2	C			114469863	-1	no_errors	ENST00000454265	ensembl	human	known	70_37	missense	SNP	1.000	G
CDC6	990	genome.wustl.edu	37	17	38457833	38457833	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:38457833G>C	ENST00000209728.4	+	11	2037	c.1566G>C	c.(1564-1566)aaG>aaC	p.K522N	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	522					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TAGGATTAAAGAGAAACAAGG	0.418																																																	0													129.0	140.0	136.0					17																	38457833		2203	4300	6503	SO:0001583	missense	990			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1566G>C	17.37:g.38457833G>C	ENSP00000209728:p.Lys522Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TB30	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18	p.K522N	ENST00000209728.4	37	c.1566	CCDS11365.1	17	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828183	0.71143	.	.	ENSG00000094804	ENST00000209728	T	0.44881	0.91	5.81	4.83	0.62350	Winged helix-turn-helix transcription repressor DNA-binding (1);CDC6, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.78916	2.43	0.50313	D	0.999861	D	0.89917	1.0	D	0.85130	0.997	T	0.62101	-0.6925	10	0.39692	T	0.17	-5.7866	14.7926	0.69854	0.0744:0.0:0.9256:0.0	.	522	Q99741	CDC6_HUMAN	N	522	ENSP00000209728:K522N	ENSP00000209728:K522N	K	+	3	2	CDC6	35711359	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.389000	0.66255	2.906000	0.99361	0.655000	0.94253	AAG	CDC6	-	pfam_Cdc6_C_dom,pirsf_Cell_div_Cdc6/18		0.418	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	G			38457833	+1	no_errors	ENST00000209728	ensembl	human	known	70_37	missense	SNP	1.000	C
CHRNA9	55584	genome.wustl.edu	37	4	40351154	40351154	+	Silent	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:40351154C>T	ENST00000310169.2	+	4	760	c.621C>T	c.(619-621)ggC>ggT	p.G207G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	207					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGGTCCATGGCATGCCCGCTG	0.512																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)												0													234.0	206.0	215.0					4																	40351154		2203	4300	6503	SO:0001819	synonymous_variant	55584			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.621C>T	4.37:g.40351154C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G207	ENST00000310169.2	37	c.621	CCDS3459.1	4																																																																																			CHRNA9	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.512	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	HGNC	protein_coding	OTTHUMT00000216822.1	C			40351154	+1	no_errors	ENST00000310169	ensembl	human	known	70_37	silent	SNP	1.000	T
CHRNA9	55584	genome.wustl.edu	37	4	40351427	40351427	+	Silent	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:40351427G>A	ENST00000310169.2	+	4	1033	c.894G>A	c.(892-894)ctG>ctA	p.L298L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	298					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	ATGTGCCCCTGATAGGTGAGT	0.493																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)												0													53.0	58.0	56.0					4																	40351427		2201	4296	6497	SO:0001819	synonymous_variant	55584			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.894G>A	4.37:g.40351427G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L298	ENST00000310169.2	37	c.894	CCDS3459.1	4																																																																																			CHRNA9	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.493	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	HGNC	protein_coding	OTTHUMT00000216822.1	G			40351427	+1	no_errors	ENST00000310169	ensembl	human	known	70_37	silent	SNP	1.000	A
CNN2	1265	genome.wustl.edu	37	19	1032654	1032654	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:1032654A>G	ENST00000263097.4	+	4	712	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	CNN2_ENST00000348419.3_Missense_Mutation_p.M117V|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.M117V|CNN2_ENST00000565096.2_Missense_Mutation_p.M117V	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	117	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTGGGAACATGACgcaggt	0.592																																																	0													52.0	44.0	47.0					19																	1032654		2203	4299	6502	SO:0001583	missense	1265			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.349A>G	19.37:g.1032654A>G	ENSP00000263097:p.Met117Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.M117V	ENST00000263097.4	37	c.349	CCDS12053.1	19	.	.	.	.	.	.	.	.	.	.	A	9.720	1.159375	0.21454	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	D;D	0.94931	-3.56;-3.56	4.05	-3.41	0.04839	Calponin homology domain (5);	0.105389	0.64402	U	0.000009	D	0.88934	0.6572	L	0.41632	1.29	0.31930	N	0.612253	B;B;B;B;B	0.14012	0.005;0.009;0.004;0.001;0.009	B;B;B;B;B	0.21546	0.008;0.035;0.027;0.013;0.023	T	0.74595	-0.3613	10	0.62326	D	0.03	.	8.792	0.34857	0.3029:0.5689:0.0:0.1282	.	117;117;117;117;117	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	V	117;117;96	ENSP00000263097:M117V;ENSP00000340129:M117V	ENSP00000263097:M117V	M	+	1	0	CNN2	983654	1.000000	0.71417	0.483000	0.27378	0.777000	0.43975	0.979000	0.29500	-1.418000	0.02014	0.254000	0.18369	ATG	CNN2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_Calponin		0.592	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN2	HGNC	protein_coding	OTTHUMT00000420293.3	A	NM_004368		1032654	+1	no_errors	ENST00000263097	ensembl	human	known	70_37	missense	SNP	0.988	G
CLEC4M	10332	genome.wustl.edu	37	19	7831066	7831066	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:7831066G>C	ENST00000327325.5	+	4	875	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596363.1_Missense_Mutation_p.E225Q|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.E231Q|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E241Q|CLEC4M_ENST00000334806.5_Missense_Mutation_p.E202Q|CLEC4M_ENST00000357361.2_Missense_Mutation_p.E253Q	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	253	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AATCTATCAAGAACTGACCGA	0.502																																																	0													143.0	146.0	145.0					19																	7831066		2203	4300	6503	SO:0001583	missense	10332			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.757G>C	19.37:g.7831066G>C	ENSP00000316228:p.Glu253Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E253Q	ENST00000327325.5	37	c.757	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	G	2.885	-0.230996	0.05983	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000357361;ENST00000358690	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	0.726	-1.45	0.08828	C-type lectin fold (1);C-type lectin-like (1);	.	.	.	.	T	0.18002	0.0432	L	0.33753	1.03	0.09310	N	1	B;P;D;B;P;B;B	0.55605	0.007;0.867;0.972;0.26;0.603;0.018;0.013	B;B;P;B;B;B;B	0.60117	0.004;0.382;0.869;0.064;0.012;0.059;0.013	T	0.21690	-1.0238	9	0.14252	T	0.57	.	4.1915	0.10422	0.0:0.4425:0.5575:0.0	.	202;225;253;241;230;225;197	B4E2Z5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-10	.;.;CLC4M_HUMAN;.;.;.;.	Q	253;241;231;202;253;197	ENSP00000316228:E253Q;ENSP00000377680:E241Q;ENSP00000248228:E231Q;ENSP00000335228:E202Q;ENSP00000349924:E253Q	ENSP00000248228:E231Q	E	+	1	0	CLEC4M	7737066	0.004000	0.15560	0.027000	0.17364	0.335000	0.28730	-0.121000	0.10643	-0.271000	0.09272	0.134000	0.15878	GAA	CLEC4M	-	superfamily_C-type_lectin_fold		0.502	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	HGNC	protein_coding	OTTHUMT00000461161.1	G	NM_014257		7831066	+1	no_errors	ENST00000327325	ensembl	human	known	70_37	missense	SNP	0.036	C
COL20A1	57642	genome.wustl.edu	37	20	61947915	61947915	+	Silent	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr20:61947915G>C	ENST00000358894.6	+	21	2635	c.2535G>C	c.(2533-2535)ctG>ctC	p.L845L	COL20A1_ENST00000422202.1_Silent_p.L852L|COL20A1_ENST00000326996.6_Silent_p.L845L|COL20A1_ENST00000435874.1_Silent_p.L852L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	845	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTTTGACCTGATGGTGGCCT	0.647																																																	0													28.0	29.0	29.0					20																	61947915		2008	4161	6169	SO:0001819	synonymous_variant	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2535G>C	20.37:g.61947915G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.L845	ENST00000358894.6	37	c.2535	CCDS46628.1	20																																																																																			COL20A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	G	NM_020882		61947915	+1	no_errors	ENST00000326996	ensembl	human	known	70_37	silent	SNP	1.000	C
COL27A1	85301	genome.wustl.edu	37	9	116999975	116999975	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:116999975C>A	ENST00000356083.3	+	19	3098	c.2707C>A	c.(2707-2709)Ccc>Acc	p.P903T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	903	Collagen-like 5.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CATTGGGTTTCCCGGGCCCCC	0.607																																																	0													67.0	65.0	66.0					9																	116999975		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2707C>A	9.37:g.116999975C>A	ENSP00000348385:p.Pro903Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P903T	ENST00000356083.3	37	c.2707	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373933	0.61735	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93019	-3.15	5.66	5.66	0.87406	.	.	.	.	.	D	0.95153	0.8429	L	0.54908	1.71	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.92991	0.6415	9	0.21014	T	0.42	.	15.2384	0.73450	0.0:1.0:0.0:0.0	.	903	Q8IZC6	CORA1_HUMAN	T	903	ENSP00000348385:P903T	ENSP00000348385:P903T	P	+	1	0	COL27A1	116039796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.203000	0.65174	2.675000	0.91044	0.655000	0.94253	CCC	COL27A1	-	pfam_Collagen		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	C	NM_032888		116999975	+1	no_errors	ENST00000356083	ensembl	human	known	70_37	missense	SNP	1.000	A
COL9A2	1298	genome.wustl.edu	37	1	40777362	40777362	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:40777362G>A	ENST00000372748.3	-	9	539	c.443C>T	c.(442-444)tCg>tTg	p.S148L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	148	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TGGGGGCCCCGATGGTCCATC	0.617																																																	0													44.0	55.0	51.0					1																	40777362		2198	4295	6493	SO:0001583	missense	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.443C>T	1.37:g.40777362G>A	ENSP00000361834:p.Ser148Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMP9	Missense_Mutation	SNP	pfam_Collagen	p.S148L	ENST00000372748.3	37	c.443	CCDS450.1	1	.	.	.	.	.	.	.	.	.	.	.	14.08	2.428838	0.43122	.	.	ENSG00000049089	ENST00000372748;ENST00000372736	D;D	0.96104	-3.91;-3.27	5.93	4.99	0.66335	.	0.350070	0.30940	N	0.008563	D	0.92299	0.7557	L	0.58583	1.82	0.29976	N	0.818122	P	0.37663	0.604	B	0.28784	0.094	D	0.89713	0.3913	10	0.49607	T	0.09	.	12.2412	0.54544	0.0:0.0:0.8301:0.1699	.	148	Q14055	CO9A2_HUMAN	L	148;77	ENSP00000361834:S148L;ENSP00000361821:S77L	ENSP00000361821:S77L	S	-	2	0	COL9A2	40549949	0.997000	0.39634	0.663000	0.29738	0.028000	0.11728	3.594000	0.54008	1.438000	0.47492	0.655000	0.94253	TCG	COL9A2	-	pfam_Collagen		0.617	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3	G	NM_001852		40777362	-1	no_errors	ENST00000372748	ensembl	human	known	70_37	missense	SNP	0.995	A
CPEB3	22849	genome.wustl.edu	37	10	93904785	93904785	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:93904785G>A	ENST00000265997.4	-	5	1452	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	CPEB3_ENST00000412050.4_Missense_Mutation_p.P413L	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	427					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ACAGCGAGTGGGAGAACTTAA	0.448																																																	0													120.0	107.0	111.0					10																	93904785		2203	4300	6503	SO:0001583	missense	22849			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1280C>T	10.37:g.93904785G>A	ENSP00000265997:p.Pro427Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P427L	ENST00000265997.4	37	c.1280	CCDS31246.1	10	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281280	0.80692	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.47528	0.84;0.87	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	L	0.58810	1.83	0.80722	D	1	D;P;D	0.55605	0.972;0.9;0.969	P;B;P	0.55087	0.621;0.436;0.768	T	0.63400	-0.6646	10	0.66056	D	0.02	-9.7498	19.6327	0.95717	0.0:0.0:1.0:0.0	.	427;413;413	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	L	413;413;427	ENSP00000398310:P413L;ENSP00000265997:P427L	ENSP00000265997:P427L	P	-	2	0	CPEB3	93894765	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.732000	0.98816	2.643000	0.89663	0.655000	0.94253	CCC	CPEB3	-	NULL		0.448	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPEB3	HGNC	protein_coding	OTTHUMT00000049387.2	G	NM_014912		93904785	-1	no_errors	ENST00000265997	ensembl	human	known	70_37	missense	SNP	1.000	A
CPVL	54504	genome.wustl.edu	37	7	29105687	29105687	+	Silent	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:29105687G>A	ENST00000409850.1	-	14	1561	c.915C>T	c.(913-915)ttC>ttT	p.F305F	CPVL_ENST00000396276.3_Silent_p.F305F|CPVL_ENST00000265394.5_Silent_p.F305F			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	305						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TAACATTCTGGAAGTAAGAAG	0.348																																																	0													118.0	117.0	118.0					7																	29105687		2203	4300	6503	SO:0001819	synonymous_variant	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.915C>T	7.37:g.29105687G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.F305	ENST00000409850.1	37	c.915	CCDS5419.1	7																																																																																			CPVL	-	pfam_Peptidase_S10		0.348	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	HGNC	protein_coding	OTTHUMT00000328305.1	G	NM_019029		29105687	-1	no_errors	ENST00000265394	ensembl	human	known	70_37	silent	SNP	1.000	A
CYP27A1	1593	genome.wustl.edu	37	2	219679475	219679475	+	Missense_Mutation	SNP	G	G	A	rs72551323	byFrequency	TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:219679475G>A	ENST00000258415.4	+	8	1898	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	491					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GCTACTCCTCGCAAGGGTGAG	0.642																																																	0													31.0	32.0	32.0					2																	219679475		2203	4300	6503	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1471G>A	2.37:g.219679475G>A	ENSP00000258415:p.Ala491Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.A491T	ENST00000258415.4	37	c.1471	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602455	0.46423	.	.	ENSG00000135929	ENST00000258415	T	0.71934	-0.61	5.25	-6.59	0.01830	.	0.865163	0.10420	N	0.676874	T	0.45836	0.1362	N	0.25485	0.75	0.27724	N	0.945027	B	0.27166	0.17	B	0.24394	0.053	T	0.44345	-0.9334	10	0.09084	T	0.74	0.0012	8.4106	0.32640	0.1032:0.0:0.4554:0.4414	.	491	Q02318	CP27A_HUMAN	T	491	ENSP00000258415:A491T	ENSP00000258415:A491T	A	+	1	0	CYP27A1	219387719	0.004000	0.15560	0.863000	0.33907	0.962000	0.63368	-0.231000	0.09069	-0.802000	0.04421	0.561000	0.74099	GCA	CYP27A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.642	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	G			219679475	+1	no_errors	ENST00000258415	ensembl	human	known	70_37	missense	SNP	0.739	A
GEMIN4	50628	genome.wustl.edu	37	17	656677	656677	+	5'Flank	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:656677G>A	ENST00000319004.5	-	0	0				DBIL5P_ENST00000536214.1_RNA|GEMIN4_ENST00000437269.1_5'Flank	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACAAAGGGGCGTCCAAGATGG	0.617																																																	0																																										SO:0001631	upstream_gene_variant	100131454			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678			17.37:g.656677G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NZS7|Q9UG32|Q9Y4Q2	RNA	SNP	-	NULL	ENST00000319004.5	37	NULL	CCDS45559.1	17																																																																																			DBIL5P	-	-		0.617	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBIL5P	HGNC	protein_coding	OTTHUMT00000437181.1	G	NM_015721		656677	+1	no_errors	ENST00000536214	ensembl	human	known	70_37	rna	SNP	0.965	A
DCC	1630	genome.wustl.edu	37	18	50918205	50918205	+	Missense_Mutation	SNP	G	G	T	rs369217461		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr18:50918205G>T	ENST00000442544.2	+	17	3252	c.2636G>T	c.(2635-2637)cGa>cTa	p.R879L	DCC_ENST00000412726.1_Missense_Mutation_p.R707L|DCC_ENST00000581580.1_Missense_Mutation_p.R514L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	879	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTGAGGTGCGACTTTACACC	0.463																																																	0													118.0	109.0	112.0					18																	50918205		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2636G>T	18.37:g.50918205G>T	ENSP00000389140:p.Arg879Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R879L	ENST00000442544.2	37	c.2636	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002519	0.54254	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.55760	0.5;0.5	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.76814	0.4040	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	0.996;0.996;1.0	D;D;D	0.91635	0.97;0.97;0.999	T	0.76732	-0.2851	10	0.30078	T	0.28	.	18.0078	0.89214	0.0:0.0:1.0:0.0	.	707;707;879	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	879;707	ENSP00000389140:R879L;ENSP00000397322:R707L	ENSP00000397322:R707L	R	+	2	0	DCC	49172203	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.682000	0.98655	2.531000	0.85337	0.557000	0.71058	CGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.463	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	G	NM_005215		50918205	+1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	T
DCHS2	54798	genome.wustl.edu	37	4	155254249	155254249	+	Silent	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:155254249G>C	ENST00000357232.4	-	9	1613	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.L1037L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	538	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCTGCCGTTGAGGAACAGCA	0.667																																																	0													25.0	28.0	27.0					4																	155254249		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1614C>G	4.37:g.155254249G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L538	ENST00000357232.4	37	c.1614	CCDS3785.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.667	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155254249	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	silent	SNP	0.500	C
DCTN1	1639	genome.wustl.edu	37	2	74600065	74600065	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:74600065C>T	ENST00000361874.3	-	7	760	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	DCTN1_ENST00000409567.3_Intron|DCTN1_ENST00000409438.1_Missense_Mutation_p.R14Q|DCTN1_ENST00000407639.2_Missense_Mutation_p.R14Q|DCTN1_ENST00000409868.1_Missense_Mutation_p.R131Q|DCTN1_ENST00000394003.3_Missense_Mutation_p.R141Q|DCTN1_ENST00000409240.1_Intron	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	148					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTTGGGTCGCCGAGTTGTGGT	0.517																																																	0													106.0	94.0	98.0					2																	74600065		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.443G>A	2.37:g.74600065C>T	ENSP00000354791:p.Arg148Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.R148Q	ENST00000361874.3	37	c.443	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585172	0.46110	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000407639;ENST00000409438;ENST00000409868;ENST00000458655	T;T;T;T;T;T	0.75477	-0.75;-0.91;-0.67;-0.67;-0.94;-0.6	5.07	5.07	0.68467	.	.	.	.	.	T	0.72961	0.3526	N	0.14661	0.345	0.42490	D	0.99289	D;P;D;D	0.69078	0.994;0.776;0.997;0.997	P;B;D;D	0.66847	0.885;0.063;0.947;0.947	T	0.66705	-0.5856	9	0.10377	T	0.69	.	17.7628	0.88469	0.0:1.0:0.0:0.0	.	148;141;14;14	Q14203;A8MY36;Q14203-2;G5E9H4	DCTN1_HUMAN;.;.;.	Q	148;141;14;14;131;155	ENSP00000354791:R148Q;ENSP00000377571:R141Q;ENSP00000384844:R14Q;ENSP00000387270:R14Q;ENSP00000387327:R131Q;ENSP00000414315:R155Q	ENSP00000354791:R148Q	R	-	2	0	DCTN1	74453573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.904000	0.69886	2.802000	0.96397	0.561000	0.74099	CGG	DCTN1	-	NULL		0.517	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	C	NM_004082		74600065	-1	no_errors	ENST00000361874	ensembl	human	known	70_37	missense	SNP	1.000	T
DFNB31	25861	genome.wustl.edu	37	9	117266531	117266531	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:117266531A>G	ENST00000362057.3	-	1	719	c.551T>C	c.(550-552)gTc>gCc	p.V184A	DFNB31_ENST00000374057.3_Missense_Mutation_p.V184A|DFNB31_ENST00000480518.1_5'UTR|DFNB31_ENST00000265134.6_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	184	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGTCCCCGACCCGCAGTCC	0.637																																																	0													81.0	83.0	82.0					9																	117266531		2203	4300	6503	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.551T>C	9.37:g.117266531A>G	ENSP00000354623:p.Val184Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V184A	ENST00000362057.3	37	c.551	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	A	32	5.149564	0.94645	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.27104	1.69;1.69	5.79	5.79	0.91817	PDZ/DHR/GLGF (4);	0.066783	0.64402	D	0.000007	T	0.36220	0.0959	N	0.25031	0.7	0.58432	D	0.999995	P;D;D	0.65815	0.955;0.995;0.975	P;D;P	0.64410	0.74;0.925;0.728	T	0.12863	-1.0531	10	0.48119	T	0.1	-28.5578	16.1354	0.81481	1.0:0.0:0.0:0.0	.	184;184;184	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	A	184	ENSP00000354623:V184A;ENSP00000363170:V184A	ENSP00000354623:V184A	V	-	2	0	DFNB31	116306352	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	8.334000	0.90028	2.207000	0.71202	0.533000	0.62120	GTC	DFNB31	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.637	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	A	NM_015404		117266531	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	missense	SNP	0.999	G
DIO3	1735	genome.wustl.edu	37	14	102026763	102026763	+	5'Flank	SNP	G	G	A	rs377527391		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr14:102026763G>A	ENST00000510508.4	+	0	0				DIO3_ENST00000359323.3_5'Flank|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III						cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CAAGCGGCGAGAGGGGAGCGC	0.776																																																	0													6.0	7.0	7.0					14																	102026763		1435	3307	4742	SO:0001631	upstream_gene_variant	64150			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681		14.37:g.102026763G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	G3XAM0|Q8WVN5	RNA	SNP	-	NULL	ENST00000510508.4	37	NULL	CCDS41992.2	14																																																																																			DIO3OS	-	-		0.776	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	DIO3OS	HGNC	protein_coding	OTTHUMT00000361712.4	G	NM_001362		102026763	-1	no_errors	ENST00000557661	ensembl	human	known	70_37	rna	SNP	0.937	A
DLC1	10395	genome.wustl.edu	37	8	12946082	12946082	+	Silent	SNP	G	G	A	rs556430417		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:12946082G>A	ENST00000276297.4	-	16	4615	c.4206C>T	c.(4204-4206)atC>atT	p.I1402I	DLC1_ENST00000520226.1_Silent_p.I891I|DLC1_ENST00000358919.2_Silent_p.I965I|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Silent_p.I999I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1402	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCAGAATTTCGATCACTTTTG	0.458																																																	0													161.0	157.0	159.0					8																	12946082		2203	4300	6503	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4206C>T	8.37:g.12946082G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.I1402	ENST00000276297.4	37	c.4206	CCDS5989.1	8																																																																																			DLC1	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.458	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		12946082	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	0.458	A
DLG1	1739	genome.wustl.edu	37	3	196796113	196796113	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:196796113G>T	ENST00000419354.1	-	20	2343	c.2057C>A	c.(2056-2058)gCc>gAc	p.A686D	DLG1_ENST00000450955.1_Missense_Mutation_p.A675D|DLG1_ENST00000448528.2_Missense_Mutation_p.A686D|DLG1_ENST00000357674.4_Missense_Mutation_p.A675D|DLG1_ENST00000443183.1_Missense_Mutation_p.A570D|DLG1_ENST00000346964.2_Missense_Mutation_p.A708D|DLG1_ENST00000452595.1_Missense_Mutation_p.A570D|DLG1_ENST00000314062.3_Missense_Mutation_p.A635D|DLG1_ENST00000392382.2_Missense_Mutation_p.A653D|DLG1_ENST00000422288.1_Missense_Mutation_p.A635D			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	686					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACTATCGCTGGCATTAGAAGT	0.343																																																	0													71.0	67.0	68.0					3																	196796113		2203	4300	6503	SO:0001583	missense	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2057C>A	3.37:g.196796113G>T	ENSP00000407531:p.Ala686Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.A708D	ENST00000419354.1	37	c.2123	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685908	0.47991	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.14391	2.57;2.58;2.51;2.56;2.52;2.51;2.56;2.53;2.56;2.58	5.7	5.7	0.88788	Src homology-3 domain (1);	0.304259	0.30311	N	0.009912	T	0.16514	0.0397	L	0.54323	1.7	0.80722	D	1	B;B;P;B;P	0.40834	0.404;0.0;0.704;0.004;0.73	B;B;B;B;B	0.39419	0.299;0.001;0.079;0.011;0.299	T	0.05419	-1.0886	10	0.11794	T	0.64	.	18.8064	0.92038	0.0:0.0:1.0:0.0	.	675;570;570;686;708	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	D	708;686;675;635;686;570;635;686;570;653;675	ENSP00000345731:A708D;ENSP00000350303:A675D;ENSP00000321087:A635D;ENSP00000407531:A686D;ENSP00000398939:A570D;ENSP00000413238:A635D;ENSP00000391732:A686D;ENSP00000396658:A570D;ENSP00000376187:A653D;ENSP00000411278:A675D	ENSP00000321087:A635D	A	-	2	0	DLG1	198280510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.334000	0.96470	2.704000	0.92352	0.591000	0.81541	GCC	DLG1	-	superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase		0.343	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	G	NM_004087		196796113	-1	no_errors	ENST00000346964	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH14	127602	genome.wustl.edu	37	1	225332282	225332282	+	Silent	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:225332282C>T	ENST00000445597.2	+	18	3489	c.3489C>T	c.(3487-3489)gcC>gcT	p.A1163A	DNAH14_ENST00000439375.2_Silent_p.A1547A|DNAH14_ENST00000430092.1_Silent_p.A1547A			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1163					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GCTGTCCTGCCGGTCCAGCTG	0.443																																																	0													64.0	66.0	65.0					1																	225332282		692	1591	2283	SO:0001819	synonymous_variant	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.3489C>T	1.37:g.225332282C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.A1547	ENST00000445597.2	37	c.4641		1																																																																																			DNAH14	-	smart_AAA+_ATPase		0.443	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	C	XM_059166		225332282	+1	no_errors	ENST00000430092	ensembl	human	known	70_37	silent	SNP	0.939	T
DNTT	1791	genome.wustl.edu	37	10	98080494	98080494	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:98080494G>C	ENST00000371174.2	+	4	729	c.627G>C	c.(625-627)aaG>aaC	p.K209N	DNTT_ENST00000419175.1_Missense_Mutation_p.K209N			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	209	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TCAGTATGAAGGACACAGAAG	0.443																																																	0													134.0	135.0	134.0					10																	98080494		2203	4300	6503	SO:0001583	missense	1791			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.627G>C	10.37:g.98080494G>C	ENSP00000360216:p.Lys209Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.K209N	ENST00000371174.2	37	c.627	CCDS7447.1	10	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908598	0.33721	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.45668	0.89;0.89	5.19	1.74	0.24563	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.351666	0.36034	N	0.002836	T	0.36524	0.0970	M	0.65975	2.015	0.39042	D	0.960149	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.004	T	0.22765	-1.0207	10	0.36615	T	0.2	-4.7923	7.3613	0.26748	0.36:0.0:0.64:0.0	.	209;209	P04053-2;P04053	.;TDT_HUMAN	N	209	ENSP00000401169:K209N;ENSP00000360216:K209N	ENSP00000360216:K209N	K	+	3	2	DNTT	98070484	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.600000	0.24104	0.662000	0.31006	0.555000	0.69702	AAG	DNTT	-	superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase		0.443	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNTT	HGNC	protein_coding	OTTHUMT00000049607.1	G	NM_004088		98080494	+1	no_errors	ENST00000371174	ensembl	human	known	70_37	missense	SNP	0.998	C
EDIL3	10085	genome.wustl.edu	37	5	83549955	83549955	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:83549955C>T	ENST00000296591.5	-	2	561	c.143G>A	c.(142-144)tGt>tAt	p.C48Y	EDIL3_ENST00000380138.3_Missense_Mutation_p.C48Y	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	48	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGGACACTCACAGGAAAAGGA	0.388																																																	0													93.0	84.0	87.0					5																	83549955		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.143G>A	5.37:g.83549955C>T	ENSP00000296591:p.Cys48Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.C48Y	ENST00000296591.5	37	c.143	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979038	0.74360	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.99992	-12.4;-12.4	5.61	5.61	0.85477	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.51477	D	0.000099	D	0.99994	0.9999	H	0.97265	3.97	0.58432	D	0.999997	D;D	0.89917	0.988;1.0	D;D	0.97110	0.983;1.0	D	0.99991	1.4297	10	0.87932	D	0	-17.5394	18.6055	0.91264	0.0:1.0:0.0:0.0	.	48;48	O43854-2;O43854	.;EDIL3_HUMAN	Y	48	ENSP00000296591:C48Y;ENSP00000369483:C48Y	ENSP00000296591:C48Y	C	-	2	0	EDIL3	83585711	1.000000	0.71417	0.975000	0.42487	0.894000	0.52154	5.847000	0.69451	2.642000	0.89623	0.650000	0.86243	TGT	EDIL3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.388	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	C	NM_005711		83549955	-1	no_errors	ENST00000296591	ensembl	human	known	70_37	missense	SNP	0.998	T
EIF3H	8667	genome.wustl.edu	37	8	117668117	117668117	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:117668117C>T	ENST00000276682.4	-	7	1493	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	EIF3H_ENST00000521861.1_Missense_Mutation_p.E229K					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CTGAGCAATTCATGTTTATCT	0.383																																																	0													108.0	97.0	101.0					8																	117668117		2203	4300	6503	SO:0001583	missense	8667			U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.727G>A	8.37:g.117668117C>T	ENSP00000276682:p.Glu243Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.E229K	ENST00000276682.4	37	c.685		8	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953760	0.92660	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949	T;T	0.44482	0.94;0.92	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	L	0.49350	1.555	0.80722	D	1	P;P	0.39782	0.688;0.524	B;B	0.28849	0.095;0.095	T	0.24621	-1.0155	10	0.44086	T	0.13	-25.3304	20.8598	0.99761	0.0:1.0:0.0:0.0	.	243;229	B3KS98;O15372	.;EIF3H_HUMAN	K	229;243;197	ENSP00000429931:E229K;ENSP00000276682:E243K	ENSP00000276682:E243K	E	-	1	0	EIF3H	117737298	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.771000	0.85420	2.937000	0.99478	0.650000	0.86243	GAA	EIF3H	-	NULL		0.383	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	EIF3H	HGNC	protein_coding	OTTHUMT00000380913.1	C	NM_003756		117668117	-1	no_errors	ENST00000521861	ensembl	human	known	70_37	missense	SNP	1.000	T
EIF6	3692	genome.wustl.edu	37	20	33867868	33867868	+	Silent	SNP	T	T	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr20:33867868T>A	ENST00000374450.3	-	5	687	c.423A>T	c.(421-423)acA>acT	p.T141T	EIF6_ENST00000374436.3_Silent_p.T141T|EIF6_ENST00000374443.3_Silent_p.T122T|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EIF6_ENST00000462894.1_5'Flank|MMP24-AS1_ENST00000424358.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGTCGGCCACTGTCTGTCTGA	0.498																																																	0													146.0	139.0	141.0					20																	33867868		2203	4300	6503	SO:0001819	synonymous_variant	3692			Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"""integrin beta 4 binding protein"""	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.423A>T	20.37:g.33867868T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.Q181L	ENST00000374450.3	37	c.542	CCDS13249.1	20																																																																																			EIF6	-	NULL		0.498	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	HGNC	protein_coding	OTTHUMT00000078848.3	T	NM_002212		33867868	-1	no_errors	ENST00000415116	ensembl	human	known	70_37	missense	SNP	1.000	A
EMP3	2014	genome.wustl.edu	37	19	48830147	48830147	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:48830147C>G	ENST00000270221.6	+	2	347	c.46C>G	c.(46-48)Ctt>Gtt	p.L16V	EMP3_ENST00000597279.1_Missense_Mutation_p.L16V|EMP3_ENST00000596315.1_Intron	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	16					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CATCCTCATTCTTATACTGCT	0.562																																																	0													285.0	248.0	260.0					19																	48830147		2203	4300	6503	SO:0001583	missense	2014			U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.46C>G	19.37:g.48830147C>G	ENSP00000270221:p.Leu16Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FH01	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_EMP_3,prints_PMP22_EMP_MP20	p.L16V	ENST00000270221.6	37	c.46	CCDS12715.1	19	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978138	0.34942	.	.	ENSG00000142227	ENST00000270221	D	0.88201	-2.35	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	L	0.60455	1.87	0.51233	D	0.999915	D	0.69078	0.997	D	0.81914	0.995	D	0.88620	0.3162	10	0.18276	T	0.48	.	13.8604	0.63557	0.0:1.0:0.0:0.0	.	16	P54852	EMP3_HUMAN	V	16	ENSP00000270221:L16V	ENSP00000270221:L16V	L	+	1	0	EMP3	53521959	0.985000	0.35326	1.000000	0.80357	0.987000	0.75469	2.609000	0.46317	2.461000	0.83175	0.650000	0.86243	CTT	EMP3	-	pfam_PMP22/EMP/MP20/Claudin		0.562	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP3	HGNC	protein_coding	OTTHUMT00000465613.1	C	NM_001425		48830147	+1	no_errors	ENST00000270221	ensembl	human	known	70_37	missense	SNP	1.000	G
Unknown	0	genome.wustl.edu	37	GL000212.1	64859	64859	+	IGR	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chrGL000212.1:64859C>T								None (None upstream) : None (None downstream)																							CCCAGGGCATCGCCAACAAGG	0.706																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.64859C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S203L		37	c.608		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.706					ENSG00000212857	Clone_based_ensembl_gene			C			64859	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	missense	SNP	NULL	T
EPPK1	83481	genome.wustl.edu	37	8	144943461	144943461	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:144943461C>T	ENST00000525985.1	-	2	4032	c.3961G>A	c.(3961-3963)Gag>Aag	p.E1321K				P58107	EPIPL_HUMAN	epiplakin 1	1321						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCGCCCTCTCGGCCTGCCCG	0.652																																																	0													49.0	56.0	54.0					8																	144943461		1930	4113	6043	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3961G>A	8.37:g.144943461C>T	ENSP00000436337:p.Glu1321Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.E1321K	ENST00000525985.1	37	c.3961		8	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445670	0.63178	.	.	ENSG00000227184	ENST00000525985	T	0.73047	-0.71	4.4	4.4	0.53042	.	.	.	.	.	D	0.85239	0.5651	M	0.87180	2.865	0.43091	D	0.994767	D	0.89917	1.0	D	0.91635	0.999	D	0.87810	0.2631	9	0.59425	D	0.04	.	14.5075	0.67762	0.0:1.0:0.0:0.0	.	1321	E9PPU0	.	K	1321	ENSP00000436337:E1321K	ENSP00000436337:E1321K	E	-	1	0	EPPK1	145015449	0.998000	0.40836	0.037000	0.18230	0.023000	0.10783	3.857000	0.55972	2.271000	0.75665	0.462000	0.41574	GAG	EPPK1	-	smart_Plectin_repeat		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144943461	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.978	T
ETFB	2109	genome.wustl.edu	37	19	51857609	51857609	+	Intron	SNP	G	G	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:51857609G>T	ENST00000309244.4	-	2	149				ETFB_ENST00000354232.4_Missense_Mutation_p.S95Y|CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_Intron	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		AAACAGGCAAGAAGGTGGGGG	0.642																																																	0													60.0	57.0	58.0					19																	51857609		2203	4300	6503	SO:0001627	intron_variant	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-47C>A	19.37:g.51857609G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.S95Y	ENST00000309244.4	37	c.284	CCDS12828.1	19	.	.	.	.	.	.	.	.	.	.	g	11.28	1.592997	0.28357	.	.	ENSG00000105379	ENST00000354232	D	0.84589	-1.87	3.33	-1.77	0.07982	.	.	.	.	.	T	0.66548	0.2800	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49643	-0.8918	7	.	.	.	.	0.2584	0.00215	0.271:0.1988:0.3089:0.2213	.	95	P38117-2	.	Y	95	ENSP00000346173:S95Y	.	S	-	2	0	ETFB	56549421	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-0.651000	0.05372	-0.134000	0.11516	0.651000	0.88453	TCT	ETFB	-	NULL		0.642	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	G			51857609	-1	no_errors	ENST00000354232	ensembl	human	known	70_37	missense	SNP	0.000	T
ETFDH	2110	genome.wustl.edu	37	4	159601633	159601633	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:159601633C>T	ENST00000511912.1	+	2	381	c.49C>T	c.(49-51)Cat>Tat	p.H17Y	ETFDH_ENST00000307738.5_Intron	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	17					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TCAGTGCTTTCATGCCTTAAA	0.308																																																	0													79.0	74.0	76.0					4																	159601633		2203	4300	6503	SO:0001583	missense	2110			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.49C>T	4.37:g.159601633C>T	ENSP00000426638:p.His17Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2	p.H17Y	ENST00000511912.1	37	c.49	CCDS3800.1	4	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851467	0.32699	.	.	ENSG00000171503	ENST00000511912	D	0.97209	-4.29	5.63	4.79	0.61399	.	0.451681	0.27424	N	0.019439	D	0.91580	0.7340	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.86011	0.1501	10	0.14252	T	0.57	0.1058	7.572	0.27913	0.0:0.7164:0.1368:0.1467	.	17	Q16134	ETFD_HUMAN	Y	17	ENSP00000426638:H17Y	ENSP00000426638:H17Y	H	+	1	0	ETFDH	159821083	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.072000	0.41510	1.521000	0.48983	0.591000	0.81541	CAT	ETFDH	-	NULL		0.308	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFDH	HGNC	protein_coding	OTTHUMT00000365718.2	C			159601633	+1	no_errors	ENST00000511912	ensembl	human	known	70_37	missense	SNP	0.983	T
EZH1	2145	genome.wustl.edu	37	17	40870628	40870628	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:40870628C>G	ENST00000428826.2	-	9	896	c.775G>C	c.(775-777)Gaa>Caa	p.E259Q	EZH1_ENST00000415827.2_Missense_Mutation_p.E250Q|EZH1_ENST00000590078.1_Missense_Mutation_p.E189Q|EZH1_ENST00000585893.1_Missense_Mutation_p.E219Q|EZH1_ENST00000592743.1_Missense_Mutation_p.E259Q|EZH1_ENST00000435174.1_Missense_Mutation_p.E120Q			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	259					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCTGTTAGTTCTCGATACCTA	0.502																																																	0													109.0	109.0	109.0					17																	40870628		2203	4300	6503	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.775G>C	17.37:g.40870628C>G	ENSP00000404658:p.Glu259Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.E259Q	ENST00000428826.2	37	c.775	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.107484	0.97291	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.95001	-3.58;-3.54	4.8	4.8	0.61643	SANT domain, DNA binding (1);	0.049437	0.85682	D	0.000000	D	0.96658	0.8909	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.69078	0.997;0.995;0.995;0.991	D;D;D;D	0.76575	0.97;0.988;0.988;0.973	D	0.96994	0.9724	10	0.72032	D	0.01	.	18.4444	0.90678	0.0:1.0:0.0:0.0	.	120;219;265;259	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	Q	262;259;219;120	ENSP00000404658:E259Q;ENSP00000404071:E120Q	ENSP00000264646:E262Q	E	-	1	0	EZH1	38124154	1.000000	0.71417	0.400000	0.26346	0.975000	0.68041	7.556000	0.82233	2.652000	0.90054	0.655000	0.94253	GAA	EZH1	-	smart_SANT/Myb		0.502	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991		40870628	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM171A1	221061	genome.wustl.edu	37	10	15255634	15255634	+	Silent	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:15255634C>T	ENST00000378116.4	-	8	1959	c.1953G>A	c.(1951-1953)gcG>gcA	p.A651A	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	651						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCGGGTGCCCGCATCCTGCA	0.622																																																	0													47.0	54.0	52.0					10																	15255634		2203	4300	6503	SO:0001819	synonymous_variant	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1953G>A	10.37:g.15255634C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Silent	SNP	pfam_Uncharacterised_FAM171	p.A651	ENST00000378116.4	37	c.1953	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171		0.622	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	C	XM_167709		15255634	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	silent	SNP	0.472	T
FBXW7	55294	genome.wustl.edu	37	4	153253770	153253770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:153253770C>T	ENST00000281708.4	-	6	2192	c.963G>A	c.(961-963)tgG>tgA	p.W321*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W203*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W321*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W145*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W241*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W321*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	321	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.W321*(2)|p.W82*(1)|p.W241*(1)|p.?(1)|p.W203*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATTTCTCTCTCCAGAGAAGGT	0.393			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	6	Substitution - Nonsense(5)|Unknown(1)	urinary_tract(5)|haematopoietic_and_lymphoid_tissue(1)											76.0	77.0	77.0					4																	153253770		2203	4300	6503	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.963G>A	4.37:g.153253770C>T	ENSP00000281708:p.Trp321*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W321*	ENST00000281708.4	37	c.963	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.684100	0.97759	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5675	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	X	321;203;241;145	.	ENSP00000263981:W241X	W	-	3	0	FBXW7	153473220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.878000	0.98634	0.650000	0.86243	TGG	FBXW7	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like		0.393	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153253770	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FBXW8	26259	genome.wustl.edu	37	12	117465245	117465245	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr12:117465245G>A	ENST00000309909.5	+	10	1670	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	FBXW8_ENST00000455858.2_Missense_Mutation_p.A464T			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	530					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCTCATCACGGCCAACGTGCC	0.602																																																	0													101.0	82.0	88.0					12																	117465245		2203	4300	6503	SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1588G>A	12.37:g.117465245G>A	ENSP00000310686:p.Ala530Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UK95	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A530T	ENST00000309909.5	37	c.1588	CCDS9182.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337435	0.81911	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.12465	2.68;2.76	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.76574	2.34	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.68039	0.904;0.955	T	0.13442	-1.0509	10	0.52906	T	0.07	-21.0708	18.4705	0.90773	0.0:0.0:1.0:0.0	.	530;464	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	T	530;464;464	ENSP00000310686:A530T;ENSP00000389144:A464T	ENSP00000310686:A530T	A	+	1	0	FBXW8	115949628	1.000000	0.71417	0.992000	0.48379	0.284000	0.27059	7.201000	0.77847	2.452000	0.82932	0.462000	0.41574	GCC	FBXW8	-	NULL		0.602	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	G	NM_012174		117465245	+1	no_errors	ENST00000309909	ensembl	human	known	70_37	missense	SNP	0.999	A
FKBP2	2286	genome.wustl.edu	37	11	64011488	64011488	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:64011488G>T	ENST00000394540.3	+	6	886	c.416G>T	c.(415-417)cGa>cTa	p.R139L	FKBP2_ENST00000449942.2_Missense_Mutation_p.R139L|RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA|FKBP2_ENST00000309366.4_Missense_Mutation_p.R139L	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	139					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(3)	5						ATAGAGCGACGAACTGAGCTG	0.527																																																	0													74.0	76.0	75.0					11																	64011488		2201	4297	6498	SO:0001583	missense	2286			M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"""FK506 binding protein 2 (13kD)"", ""peptidyl-prolyl cis-trans isomerase"", ""rapamycin-binding protein"", ""proline isomerase"""	186946	"""FK506-binding protein 2 (13kD)"""			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.416G>T	11.37:g.64011488G>T	ENSP00000378046:p.Arg139Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5BJH9|Q9BTS7	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	p.R139L	ENST00000394540.3	37	c.416	CCDS8063.1	11	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280983	0.23392	.	.	ENSG00000173486	ENST00000309366;ENST00000449942;ENST00000394540	T;T;T	0.54071	0.59;0.59;0.59	4.07	3.15	0.36227	.	0.161142	0.33959	N	0.004387	T	0.46464	0.1394	M	0.64170	1.965	0.30566	N	0.763992	P	0.38745	0.645	B	0.34242	0.178	T	0.55354	-0.8154	10	0.62326	D	0.03	-1.4673	10.842	0.46722	0.0965:0.0:0.9035:0.0	.	139	P26885	FKBP2_HUMAN	L	139	ENSP00000310935:R139L;ENSP00000398147:R139L;ENSP00000378046:R139L	ENSP00000310935:R139L	R	+	2	0	FKBP2	63768064	1.000000	0.71417	0.256000	0.24389	0.363000	0.29612	5.539000	0.67199	0.834000	0.34852	0.407000	0.27541	CGA	FKBP2	-	NULL		0.527	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP2	HGNC	protein_coding	OTTHUMT00000396401.2	G	NM_004470		64011488	+1	no_errors	ENST00000309366	ensembl	human	known	70_37	missense	SNP	0.238	T
PRR36	80164	genome.wustl.edu	37	19	7935863	7935863	+	Missense_Mutation	SNP	G	G	T	rs5027409		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:7935863G>T	ENST00000539422.1	-	5	2429	c.2267C>A	c.(2266-2268)cCt>cAt	p.P756H	CTD-3193O13.9_ENST00000593356.1_Intron|CTD-3193O13.11_ENST00000597156.1_lincRNA	NM_001190467.1	NP_001177396.1																					GTTCTCCAGAGGGGGTGTGGT	0.622																																																	0																																										SO:0001583	missense	80164																														ENST00000539422.1:c.2267C>A	19.37:g.7935863G>T	ENSP00000438970:p.Pro756His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.P756H	ENST00000539422.1	37	c.2267		19	.	.	.	.	.	.	.	.	.	.	G	5.221	0.226334	0.09916	.	.	ENSG00000183248	ENST00000539422	.	.	.	2.35	-0.76	0.11041	.	.	.	.	.	T	0.23532	0.0569	N	0.11560	0.145	0.58432	P	6.999999999979245E-6	.	.	.	.	.	.	T	0.32268	-0.9913	5	0.56958	D	0.05	.	5.5853	0.17272	0.4446:0.0:0.5554:0.0	rs5027409	.	.	.	H	756	.	ENSP00000438970:P756H	P	-	2	0	AC010336.1	7841863	0.804000	0.28969	0.003000	0.11579	0.318000	0.28184	0.000000	0.12993	0.137000	0.18759	0.074000	0.15403	CCT	FLJ22184	-	NULL		0.622	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Uniprot_genename	protein_coding		G			7935863	-1	no_errors	ENST00000539422	ensembl	human	known	70_37	missense	SNP	0.136	T
FLNC	2318	genome.wustl.edu	37	7	128483349	128483349	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:128483349G>A	ENST00000325888.8	+	17	2878	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	FLNC_ENST00000346177.6_Missense_Mutation_p.E873K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	873					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTCAAGGCCGAGGGCCCTGG	0.642																																																	0													34.0	41.0	38.0					7																	128483349		2067	4222	6289	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2617G>A	7.37:g.128483349G>A	ENSP00000327145:p.Glu873Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E873K	ENST00000325888.8	37	c.2617	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.512855	0.96402	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84730	-1.89;-1.89	5.5	5.5	0.81552	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	L	0.47716	1.5	0.80722	D	1	D;P	0.89917	1.0;0.838	D;B	0.73380	0.98;0.396	D	0.90761	0.4665	10	0.66056	D	0.02	.	19.3978	0.94614	0.0:0.0:1.0:0.0	.	873;873	Q14315-2;Q14315	.;FLNC_HUMAN	K	873	ENSP00000327145:E873K;ENSP00000344002:E873K	ENSP00000327145:E873K	E	+	1	0	FLNC	128270585	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.906000	0.87423	2.583000	0.87209	0.561000	0.74099	GAG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128483349	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	A
FREM3	166752	genome.wustl.edu	37	4	144619788	144619788	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:144619788C>T	ENST00000329798.5	-	1	2040	c.2041G>A	c.(2041-2043)Gac>Aac	p.D681N	RP13-578N3.3_ENST00000499587.2_RNA	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	681					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TTGGGTGGGTCATGGTCATCC	0.488																																																	0													46.0	40.0	42.0					4																	144619788		692	1591	2283	SO:0001583	missense	166752			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.2041G>A	4.37:g.144619788C>T	ENSP00000332886:p.Asp681Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.D681N	ENST00000329798.5	37	c.2041	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390737	0.82902	.	.	ENSG00000183090	ENST00000329798	T	0.25579	1.79	4.01	4.01	0.46588	.	0.060801	0.64402	D	0.000007	T	0.40546	0.1121	M	0.72353	2.195	0.58432	D	0.999996	.	.	.	.	.	.	T	0.18650	-1.0330	8	0.20046	T	0.44	-8.7158	15.042	0.71799	0.0:1.0:0.0:0.0	.	.	.	.	N	681	ENSP00000332886:D681N	ENSP00000332886:D681N	D	-	1	0	FREM3	144839238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.349000	0.52217	2.066000	0.61787	0.655000	0.94253	GAC	FREM3	-	NULL		0.488	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	C	XM_094074		144619788	-1	no_errors	ENST00000329798	ensembl	human	putative	70_37	missense	SNP	1.000	T
GALNT9	50614	genome.wustl.edu	37	12	132905692	132905692	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr12:132905692C>T	ENST00000328957.8	-	1	97	c.98G>A	c.(97-99)cGc>cAc	p.R33H	RP13-895J2.7_ENST00000537720.1_RNA	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	33					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CTCCTGGGAGCGGCCCTGCAG	0.672																																					Colon(186;2147 2752 13553 41466)												0													20.0	26.0	24.0					12																	132905692		691	1589	2280	SO:0001583	missense	50614			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.98G>A	12.37:g.132905692C>T	ENSP00000329846:p.Arg33His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R33H	ENST00000328957.8	37	c.98		12	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069055	0.55539	.	.	ENSG00000182870	ENST00000328957	T	0.54675	0.56	4.03	4.03	0.46877	.	0.308556	0.23189	U	0.050923	T	0.47673	0.1458	M	0.62723	1.935	0.80722	D	1	B;B	0.24483	0.104;0.012	B;B	0.12156	0.007;0.003	T	0.49173	-0.8967	10	0.44086	T	0.13	.	10.907	0.47086	0.0:0.906:0.0:0.094	.	33;33	B2RXG6;Q9HCQ5	.;GALT9_HUMAN	H	33	ENSP00000329846:R33H	ENSP00000329846:R33H	R	-	2	0	GALNT9	131415765	1.000000	0.71417	0.934000	0.37439	0.818000	0.46254	5.354000	0.66040	1.772000	0.52199	0.313000	0.20887	CGC	GALNT9	-	NULL		0.672	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	C	NM_001122636		132905692	-1	no_errors	ENST00000328957	ensembl	human	known	70_37	missense	SNP	1.000	T
GBP2	2634	genome.wustl.edu	37	1	89582883	89582883	+	Silent	SNP	A	A	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:89582883A>T	ENST00000370466.3	-	6	928	c.660T>A	c.(658-660)ccT>ccA	p.P220P	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	220	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGCACAACCGAGGATCATTAA	0.388																																																	0													69.0	66.0	67.0					1																	89582883		2203	4300	6503	SO:0001819	synonymous_variant	2634			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.660T>A	1.37:g.89582883A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.P220	ENST00000370466.3	37	c.660	CCDS719.1	1																																																																																			GBP2	-	pfam_Guanylate-bd_N		0.388	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2	A	NM_004120		89582883	-1	no_errors	ENST00000370466	ensembl	human	known	70_37	silent	SNP	0.001	T
HECW1	23072	genome.wustl.edu	37	7	43447187	43447187	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:43447187G>C	ENST00000395891.2	+	8	1263	c.658G>C	c.(658-660)Ggg>Cgg	p.G220R	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.G220R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	220	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTTGAAGAAAGGGATGTTTTT	0.433																																																	0													46.0	43.0	44.0					7																	43447187		1848	4101	5949	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.658G>C	7.37:g.43447187G>C	ENSP00000379228:p.Gly220Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G220R	ENST00000395891.2	37	c.658	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	30	5.056890	0.93846	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.42513	0.97;0.97	5.35	5.35	0.76521	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.049708	0.85682	D	0.000000	T	0.66848	0.2831	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69525	-0.5122	10	0.62326	D	0.03	.	19.052	0.93050	0.0:0.0:1.0:0.0	.	220;252;220	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	R	220;220;219	ENSP00000379228:G220R;ENSP00000407774:G220R	ENSP00000265522:G219R	G	+	1	0	HECW1	43413712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.362000	0.97126	2.488000	0.83962	0.563000	0.77884	GGG	HECW1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.433	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43447187	+1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	1.000	C
GRB10	2887	genome.wustl.edu	37	7	50673007	50673007	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:50673007C>T	ENST00000401949.1	-	15	1838	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	GRB10_ENST00000357271.5_Missense_Mutation_p.E411K|GRB10_ENST00000398810.2_Missense_Mutation_p.E399K|GRB10_ENST00000402578.1_Missense_Mutation_p.E399K|GRB10_ENST00000407526.1_Missense_Mutation_p.E399K|GRB10_ENST00000403097.1_Missense_Mutation_p.E451K|GRB10_ENST00000402497.1_Missense_Mutation_p.E399K|GRB10_ENST00000439599.1_Missense_Mutation_p.E451K|GRB10_ENST00000335866.3_Missense_Mutation_p.E399K|GRB10_ENST00000406641.1_Missense_Mutation_p.E399K|GRB10_ENST00000398812.2_Missense_Mutation_p.E457K			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	457					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TGGCCCTCCTCCAGGGCTGCG	0.642									Russell-Silver syndrome																																								0													40.0	40.0	40.0					7																	50673007		1876	4098	5974	SO:0001583	missense	2887	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1369G>A	7.37:g.50673007C>T	ENSP00000385770:p.Glu457Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.E457K	ENST00000401949.1	37	c.1369	CCDS43582.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.090430	0.97271	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.83755	-1.64;-1.63;-1.76;-1.76;-1.76;-1.63;-1.76;-1.54;-1.76;-1.64;-1.76	5.89	5.89	0.94794	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.79108	0.99;0.992;0.977	D	0.91311	0.5074	10	0.59425	D	0.04	-19.0582	20.2474	0.98399	0.0:1.0:0.0:0.0	.	451;411;457	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	K	457;451;399;399;399;451;399;411;399;457;399	ENSP00000381793:E457K;ENSP00000406716:E451K;ENSP00000338543:E399K;ENSP00000381790:E399K;ENSP00000385189:E399K;ENSP00000385544:E451K;ENSP00000385366:E399K;ENSP00000349818:E411K;ENSP00000385046:E399K;ENSP00000385770:E457K;ENSP00000385748:E399K	ENSP00000338543:E399K	E	-	1	0	GRB10	50640501	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.651000	0.83577	2.763000	0.94921	0.655000	0.94253	GAG	GRB10	-	pfam_BPS-dom		0.642	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB10	HGNC	protein_coding	OTTHUMT00000319157.1	C			50673007	-1	no_errors	ENST00000398812	ensembl	human	known	70_37	missense	SNP	1.000	T
HHLA1	10086	genome.wustl.edu	37	8	133107823	133107823	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:133107823C>T	ENST00000414222.1	-	6	390	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	HHLA1_ENST00000434736.2_Missense_Mutation_p.A167T	NM_001145095.1	NP_001138567.1	C9JL84	HHLA1_HUMAN	HERV-H LTR-associating 1	131						extracellular region (GO:0005576)				endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2)	12						GGGAATTTGGCGGGGTCTACT	0.468																																																	0													117.0	103.0	107.0					8																	133107823		692	1591	2283	SO:0001583	missense	10086			AF110315		8q24	2011-03-01			ENSG00000132297	ENSG00000132297			4904	protein-coding gene	gene with protein product		604109		PLA2L		10329003	Standard	NM_001145095		Approved		uc011liy.1	C9JL84	OTTHUMG00000140390	ENST00000414222.1:c.391G>A	8.37:g.133107823C>T	ENSP00000388322:p.Ala131Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.A131T	ENST00000414222.1	37	c.391		8	.	.	.	.	.	.	.	.	.	.	C	1.433	-0.569790	0.03910	.	.	ENSG00000132297	ENST00000414222;ENST00000434736	.	.	.	5.39	0.963	0.19649	.	.	.	.	.	T	0.16428	0.0395	N	0.17082	0.46	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.31308	-0.9948	8	0.07175	T	0.84	.	4.8571	0.13564	0.142:0.5194:0.0:0.3386	.	131	C9JL84	HHLA1_HUMAN	T	131;167	.	ENSP00000388322:A131T	A	-	1	0	HHLA1	133177005	0.010000	0.17322	0.033000	0.17914	0.010000	0.07245	0.307000	0.19296	0.337000	0.23665	-0.137000	0.14449	GCC	HHLA1	-	NULL		0.468	HHLA1-201	KNOWN	basic|appris_principal	protein_coding	HHLA1	HGNC	protein_coding		C	XR_017860		133107823	-1	no_errors	ENST00000414222	ensembl	human	known	70_37	missense	SNP	0.009	T
HIST1H2AH	85235	genome.wustl.edu	37	6	27114916	27114916	+	Silent	SNP	A	A	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:27114916A>G	ENST00000377459.1	+	1	56	c.9A>G	c.(7-9)ggA>ggG	p.G3G	HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	3						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTATGTCTGGACGTGGCAAGC	0.552																																																	0													66.0	73.0	71.0					6																	27114916		2203	4300	6503	SO:0001819	synonymous_variant	85235			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.9A>G	6.37:g.27114916A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.G3	ENST00000377459.1	37	c.9	CCDS4622.1	6																																																																																			HIST1H2AH	-	superfamily_Histone-fold,smart_Histone_H2A		0.552	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	A	NM_080596		27114916	+1	no_errors	ENST00000377459	ensembl	human	known	70_37	silent	SNP	0.994	G
IBTK	25998	genome.wustl.edu	37	6	82950091	82950091	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:82950091G>C	ENST00000306270.7	-	2	662	c.113C>G	c.(112-114)tCc>tGc	p.S38C	IBTK_ENST00000510291.1_Missense_Mutation_p.S38C|IBTK_ENST00000503631.1_Missense_Mutation_p.S38C	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	38					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACAATGACTGGAGAGAAAGGC	0.458																																																	0													143.0	136.0	139.0					6																	82950091		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.113C>G	6.37:g.82950091G>C	ENSP00000305721:p.Ser38Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.S38C	ENST00000306270.7	37	c.113	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378362	0.82682	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.65916	-0.18;-0.18;-0.18	5.78	5.78	0.91487	Ankyrin repeat-containing domain (2);	0.159118	0.56097	D	0.000022	T	0.69296	0.3095	L	0.43923	1.385	0.58432	D	0.999999	D;D;D;D	0.67145	0.986;0.994;0.996;0.994	P;D;P;D	0.67103	0.797;0.949;0.889;0.949	T	0.70854	-0.4759	10	0.72032	D	0.01	-4.9925	19.998	0.97395	0.0:0.0:1.0:0.0	.	38;38;38;38	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	C	38	ENSP00000305721:S38C;ENSP00000422762:S38C;ENSP00000426405:S38C	ENSP00000305721:S38C	S	-	2	0	IBTK	83006810	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.272000	0.72575	2.735000	0.93741	0.561000	0.74099	TCC	IBTK	-	NULL		0.458	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	G	NM_015525		82950091	-1	no_errors	ENST00000306270	ensembl	human	known	70_37	missense	SNP	1.000	C
IFT172	26160	genome.wustl.edu	37	2	27708261	27708261	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:27708261C>T	ENST00000260570.3	-	2	252	c.149G>A	c.(148-150)aGa>aAa	p.R50K	IFT172_ENST00000416524.2_Missense_Mutation_p.R29K|IFT172_ENST00000359466.6_Missense_Mutation_p.R50K	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	50					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GAATTTATCTCTCCGTTCTCC	0.448																																																	0													221.0	194.0	203.0					2																	27708261		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.149G>A	2.37:g.27708261C>T	ENSP00000260570:p.Arg50Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.R50K	ENST00000260570.3	37	c.149	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680742	0.68042	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T	0.44083	0.93;1.76	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	L	0.33093	0.98	0.80722	D	1	D;B;B;B;P	0.58970	0.984;0.303;0.448;0.155;0.804	D;B;B;B;P	0.68192	0.956;0.085;0.355;0.085;0.47	T	0.44498	-0.9324	10	0.33940	T	0.23	-14.8972	18.4654	0.90752	0.0:1.0:0.0:0.0	.	50;50;50;50;50	B4E3C1;A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;.;IF172_HUMAN	K	50;50;29	ENSP00000260570:R50K;ENSP00000407408:R29K	ENSP00000260570:R50K	R	-	2	0	IFT172	27561765	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.833000	0.75334	2.707000	0.92482	0.557000	0.71058	AGA	IFT172	-	superfamily_WD40_repeat_dom		0.448	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	C	NM_015662		27708261	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	missense	SNP	1.000	T
IQCA1L	392843	genome.wustl.edu	37	7	150900517	150900517	+	IGR	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:150900517C>G								IQCA1P1 (7827 upstream) : ABCF2 (4405 downstream)																							TGGACAGGATCTCGGCCAGTA	0.572																																																	0																																										SO:0001628	intergenic_variant	392843																															7.37:g.150900517C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		7																																																																																			IQCA1P1	-	-	0	0.572					IQCA1P1	HGNC			C			150900517	-1	no_errors	ENST00000453127	ensembl	human	known	70_37	rna	SNP	0.133	G
ITIH5	80760	genome.wustl.edu	37	10	7679252	7679252	+	Silent	SNP	G	G	A	rs369114884		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:7679252G>A	ENST00000256861.6	-	5	669	c.591C>T	c.(589-591)atC>atT	p.I197I	ITIH5_ENST00000397145.2_Silent_p.I197I|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.I197I|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	197					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCAGGGATGCGATGCCCGCGC	0.657																																																	0													74.0	75.0	75.0					10																	7679252		2203	4300	6503	SO:0001819	synonymous_variant	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.591C>T	10.37:g.7679252G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.I197	ENST00000256861.6	37	c.591		10																																																																																			ITIH5	-	NULL		0.657	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	G	NM_030569		7679252	-1	no_errors	ENST00000256861	ensembl	human	known	70_37	silent	SNP	0.049	A
JAK2	3717	genome.wustl.edu	37	9	5123048	5123048	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:5123048C>T	ENST00000381652.3	+	23	3598	c.3104C>T	c.(3103-3105)tCa>tTa	p.S1035L	JAK2_ENST00000544510.1_Missense_Mutation_p.S886L|JAK2_ENST00000539801.1_Missense_Mutation_p.S1035L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1035	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTGTGGCCTCAGATGTTTGG	0.378		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													133.0	130.0	131.0					9																	5123048		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3104C>T	9.37:g.5123048C>T	ENSP00000371067:p.Ser1035Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1035L	ENST00000381652.3	37	c.3104	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.227942	0.95173	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.89343	-2.5;-2.5;-2.5	5.52	5.52	0.82312	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.133709	0.52532	D	0.000063	D	0.94712	0.8294	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94960	0.8107	10	0.87932	D	0	-10.3375	19.4303	0.94760	0.0:1.0:0.0:0.0	.	1035	O60674	JAK2_HUMAN	L	1035;1035;886	ENSP00000440387:S1035L;ENSP00000371067:S1035L;ENSP00000443103:S886L	ENSP00000371067:S1035L	S	+	2	0	JAK2	5113048	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.474000	0.81024	2.579000	0.87056	0.650000	0.86243	TCA	JAK2	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.378	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	C			5123048	+1	no_errors	ENST00000381652	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNH4	23415	genome.wustl.edu	37	17	40328267	40328267	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:40328267C>T	ENST00000264661.3	-	5	966	c.634G>A	c.(634-636)Gtg>Atg	p.V212M	KCNH4_ENST00000607371.1_Missense_Mutation_p.V212M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	212					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACCCCCCCACGGAGGCCACC	0.617																																					NSCLC(117;707 1703 2300 21308 31858)												0													99.0	105.0	103.0					17																	40328267		2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.634G>A	17.37:g.40328267C>T	ENSP00000264661:p.Val212Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.V212M	ENST00000264661.3	37	c.634	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254122	0.80135	.	.	ENSG00000089558	ENST00000264661	D	0.98807	-5.15	5.45	5.45	0.79879	.	0.000000	0.36854	N	0.002368	D	0.97974	0.9333	M	0.65498	2.005	0.51233	D	0.999917	D	0.54397	0.966	P	0.48400	0.576	D	0.97431	1.0015	10	0.51188	T	0.08	.	13.7121	0.62674	0.0:0.9268:0.0:0.0732	.	212	Q9UQ05	KCNH4_HUMAN	M	212	ENSP00000264661:V212M	ENSP00000264661:V212M	V	-	1	0	KCNH4	37581793	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.898000	0.56281	2.840000	0.97914	0.655000	0.94253	GTG	KCNH4	-	NULL		0.617	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	C	NM_012285		40328267	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	missense	SNP	1.000	T
KRTAP12-4	386684	genome.wustl.edu	37	21	46074509	46074509	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr21:46074509G>A	ENST00000391618.1	-	1	67	c.23C>T	c.(22-24)tCg>tTg	p.S8L	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	8						keratin filament (GO:0045095)				lung(4)|ovary(1)|prostate(1)	6						TGGGCAGCCCGAAGAGTGGCT	0.652																																																	0													12.0	16.0	15.0					21																	46074509		2029	4172	6201	SO:0001583	missense	386684			AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"""Keratin associated proteins"""	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.23C>T	21.37:g.46074509G>A	ENSP00000375476:p.Ser8Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AF5	Missense_Mutation	SNP	NULL	p.S8L	ENST00000391618.1	37	c.23	CCDS42963.1	21	.	.	.	.	.	.	.	.	.	.	g	12.18	1.860541	0.32884	.	.	ENSG00000212933	ENST00000391618	T	0.02258	4.37	4.68	-2.94	0.05581	.	.	.	.	.	T	0.03305	0.0096	M	0.82056	2.57	0.09310	N	1	B	0.23891	0.093	B	0.14578	0.011	T	0.34825	-0.9813	9	0.48119	T	0.1	.	4.0453	0.09770	0.3556:0.0:0.392:0.2524	.	8	P60329	KR124_HUMAN	L	8	ENSP00000375476:S8L	ENSP00000375476:S8L	S	-	2	0	KRTAP12-4	44898937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.610000	0.02064	-0.537000	0.06290	-0.349000	0.07799	TCG	KRTAP12-4	-	NULL		0.652	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-4	HGNC	protein_coding	OTTHUMT00000128036.1	G			46074509	-1	no_errors	ENST00000391618	ensembl	human	known	70_37	missense	SNP	0.000	A
LAMA2	3908	genome.wustl.edu	37	6	129802568	129802568	+	Missense_Mutation	SNP	G	G	A	rs530288620		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:129802568G>A	ENST00000421865.2	+	55	7782	c.7733G>A	c.(7732-7734)cGa>cAa	p.R2578Q	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2578	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGGAGAAAACGAAGGCAGACT	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		20851	0.0		0.0	False		,,,				2504	0.001																0													137.0	137.0	137.0					6																	129802568		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7733G>A	6.37:g.129802568G>A	ENSP00000400365:p.Arg2578Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2578Q	ENST00000421865.2	37	c.7733	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.224524	0.95139	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.33438	1.41	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.972	T	0.49753	-0.8906	9	.	.	.	.	19.5526	0.95328	0.0:0.0:1.0:0.0	.	2579;2578	A6NF00;P24043	.;LAMA2_HUMAN	Q	2578;2577;2578;596	ENSP00000400365:R2578Q	.	R	+	2	0	LAMA2	129844261	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.431000	0.90285	2.701000	0.92244	0.563000	0.77884	CGA	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.423	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129802568	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	missense	SNP	1.000	A
LAMA5	3911	genome.wustl.edu	37	20	60928291	60928291	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr20:60928291T>C	ENST00000252999.3	-	3	533	c.467A>G	c.(466-468)tAc>tGc	p.Y156C	RP11-157P1.5_ENST00000477848.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA|LAMA5_ENST00000370692.3_Missense_Mutation_p.Y156C|RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370677.3_Missense_Mutation_p.Y156C|RP11-157P1.5_ENST00000456721.2_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	156	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GATGAGGACGTAGGCCACGTG	0.657																																																	0													41.0	38.0	39.0					20																	60928291		2187	4283	6470	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.467A>G	20.37:g.60928291T>C	ENSP00000252999:p.Tyr156Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.Y156C	ENST00000252999.3	37	c.467	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	T	18.11	3.549753	0.65311	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.80480	-1.38;-1.38;-1.38	4.39	4.39	0.52855	Laminin, N-terminal (3);	0.000000	0.64402	U	0.000001	D	0.92734	0.7690	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94791	0.7962	10	0.87932	D	0	.	13.6138	0.62094	0.0:0.0:0.0:1.0	.	156	O15230	LAMA5_HUMAN	C	156	ENSP00000252999:Y156C;ENSP00000359726:Y156C;ENSP00000359711:Y156C	ENSP00000252999:Y156C	Y	-	2	0	LAMA5	60361686	1.000000	0.71417	0.894000	0.35097	0.491000	0.33493	7.855000	0.86950	1.638000	0.50547	0.374000	0.22700	TAC	LAMA5	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N		0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	T	NM_005560		60928291	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	0.999	C
CALML3-AS1	100132159	genome.wustl.edu	37	10	5557902	5557902	+	RNA	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:5557902G>A	ENST00000543008.1	-	0	2835				CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA					CALML3 antisense RNA 1																		CTGGATGCGTGAGTCCATGCC	0.547																																																	0																																												100132159			DA220455, DA770774		10p15.1	2012-12-04			ENSG00000205488	ENSG00000205488		"""Long non-coding RNAs"""	44682	non-coding RNA	RNA, long non-coding							Standard	NR_120497		Approved				OTTHUMG00000168090		10.37:g.5557902G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000543008.1	37	NULL		10																																																																																			RP11-116G8.4	-	-		0.547	CALML3-AS1-001	KNOWN	basic	antisense	LOC100132159	Clone_based_vega_gene	antisense	OTTHUMT00000398076.1	G			5557902	-1	no_errors	ENST00000380330	ensembl	human	known	70_37	rna	SNP	0.000	A
SRP54-AS1	100506157	genome.wustl.edu	37	14	35390099	35390099	+	RNA	SNP	C	C	T	rs368848205		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr14:35390099C>T	ENST00000556355.1	-	0	567				RP11-85K15.2_ENST00000555015.1_RNA																							TGGGGCAGATCAGATTCCGAT	0.473																																																	0																																												100506157																															14.37:g.35390099C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000556355.1	37	NULL		14																																																																																			RP11-85K15.2	-	-		0.473	RP11-85K15.2-004	KNOWN	basic	antisense	LOC100506157	Clone_based_vega_gene	processed_transcript	OTTHUMT00000410682.2	C			35390099	-1	no_errors	ENST00000556355	ensembl	human	known	70_37	rna	SNP	1.000	T
AP000525.9	0	genome.wustl.edu	37	22	16157791	16157791	+	RNA	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr22:16157791G>A	ENST00000447898.1	-	0	293																											CGTTCCCTCCGGATCGGTGGC	0.692																																																	0																																												101060615																															22.37:g.16157791G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R50W	ENST00000447898.1	37	c.148		22	.	.	.	.	.	.	.	.	.	.	G	2.804	-0.248542	0.05867	.	.	ENSG00000206252	ENST00000383146	.	.	.	.	.	.	.	.	.	.	.	T	0.40815	0.1132	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37267	-0.9713	3	0.87932	D	0	.	.	.	.	.	.	.	.	W	50	.	ENSP00000384224:R50W	R	-	1	2	AP000525.1	14537791	0.002000	0.14202	0.188000	0.23233	0.049000	0.14656	-1.279000	0.02807	0.513000	0.28278	0.109000	0.15622	CGG	AP000525.1	-	NULL		0.692	AP000525.9-002	KNOWN	basic	lincRNA	LOC101060615	Clone_based_ensembl_gene	processed_transcript	OTTHUMT00000276780.1	G			16157791	-1	no_errors	ENST00000383146	ensembl	human	known	70_37	missense	SNP	0.254	A
LPAL2	80350	genome.wustl.edu	37	6	160932133	160932133	+	RNA	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:160932133C>G	ENST00000335388.5	-	0	23					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		ACCAGATAGTCAAATTAAGTT	0.443																																																	0																																												80350			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160932133C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5B4	RNA	SNP	-	NULL	ENST00000335388.5	37	NULL		6																																																																																			LPAL2	-	-		0.443	LPAL2-003	KNOWN	basic	processed_transcript	LPAL2	HGNC	pseudogene	OTTHUMT00000042950.1	C	NM_024492		160932133	-1	no_errors	ENST00000335388	ensembl	human	known	70_37	rna	SNP	0.000	G
LPO	4025	genome.wustl.edu	37	17	56344897	56344897	+	Silent	SNP	C	C	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:56344897C>A	ENST00000262290.4	+	12	2197	c.1881C>A	c.(1879-1881)ctC>ctA	p.L627L	LPO_ENST00000421678.2_Silent_p.L544L|LPO_ENST00000582328.1_Silent_p.L544L|LPO_ENST00000543544.1_Silent_p.L568L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	627					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGGGCCTCTCCTGGCCTGCC	0.617																																																	0													47.0	49.0	48.0					17																	56344897		2203	4300	6503	SO:0001819	synonymous_variant	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1881C>A	17.37:g.56344897C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L627	ENST00000262290.4	37	c.1881	CCDS32689.1	17																																																																																			LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.617	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	C			56344897	+1	no_errors	ENST00000262290	ensembl	human	known	70_37	silent	SNP	1.000	A
MAGEC3	139081	genome.wustl.edu	37	X	140969264	140969264	+	Silent	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chrX:140969264C>T	ENST00000298296.1	+	4	591	c.591C>T	c.(589-591)ctC>ctT	p.L197L	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	197	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTTCTCCTCAAATATCAAG	0.458																																																	0													137.0	131.0	133.0					X																	140969264		2203	4300	6503	SO:0001819	synonymous_variant	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.591C>T	X.37:g.140969264C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L197	ENST00000298296.1	37	c.591	CCDS14676.1	X																																																																																			MAGEC3	-	pfam_MAGE,pfscan_MAGE		0.458	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140969264	+1	no_errors	ENST00000298296	ensembl	human	known	70_37	silent	SNP	0.001	T
MAP1LC3A	84557	genome.wustl.edu	37	20	33147998	33147998	+	3'UTR	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr20:33147998G>A	ENST00000360668.3	+	0	1423				MAP1LC3A_ENST00000374837.3_3'UTR|MAP1LC3A_ENST00000397709.1_3'UTR|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha						autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CTGCCCATCTGCCCCTCACCC	0.667																																																	0																																										SO:0001624	3_prime_UTR_variant	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.*296G>A	20.37:g.33147998G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5P4|E1P5P5|Q9BXW5	RNA	SNP	-	NULL	ENST00000360668.3	37	NULL	CCDS13238.1	20																																																																																			MAP1LC3A	-	-		0.667	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3A	HGNC	protein_coding	OTTHUMT00000078801.2	G	NM_181509		33147998	+1	no_errors	ENST00000476428	ensembl	human	known	70_37	rna	SNP	0.962	A
MAP3K10	4294	genome.wustl.edu	37	19	40711973	40711973	+	Silent	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:40711973G>A	ENST00000253055.3	+	5	1632	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	448					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGAGCCAGGAGAAGCCCCGGG	0.667																																																	0													25.0	25.0	25.0					19																	40711973		2203	4298	6501	SO:0001819	synonymous_variant	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1344G>A	19.37:g.40711973G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q12761|Q14871	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,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.E448	ENST00000253055.3	37	c.1344	CCDS12549.1	19																																																																																			MAP3K10	-	pirsf_MAPKKK9/10/11		0.667	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	G	NM_002446		40711973	+1	no_errors	ENST00000253055	ensembl	human	known	70_37	silent	SNP	1.000	A
MAPK8IP2	23542	genome.wustl.edu	37	22	51041880	51041880	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr22:51041880C>T	ENST00000329492.3	+	3	517	c.400C>T	c.(400-402)Cac>Tac	p.H134Y	MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.H107Y|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.H134Y|CHKB_ENST00000463053.1_5'Flank	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	134	JNK-binding domain (JBD).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAGGAGCCCCACAAGCACCG	0.692																																																	0													24.0	32.0	29.0					22																	51041880		1919	4110	6029	SO:0001583	missense	23542			AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.400C>T	22.37:g.51041880C>T	ENSP00000330572:p.His134Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.H134Y	ENST00000329492.3	37	c.400		22	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635664	0.47049	.	.	ENSG00000008735	ENST00000329492;ENST00000442429;ENST00000008876	T;T;T	0.55234	0.95;0.53;2.18	4.58	4.58	0.56647	.	0.406811	0.24330	N	0.039465	T	0.37732	0.1014	L	0.34521	1.04	0.09310	N	0.999998	B;B	0.31730	0.167;0.337	B;B	0.25614	0.038;0.062	T	0.40040	-0.9584	10	0.87932	D	0	-23.0874	8.8191	0.35014	0.0:0.8991:0.0:0.1009	.	107;134	E7EQG6;Q13387	.;JIP2_HUMAN	Y	134;134;107	ENSP00000330572:H134Y;ENSP00000404914:H134Y;ENSP00000008876:H107Y	ENSP00000008876:H107Y	H	+	1	0	MAPK8IP2	49388746	0.687000	0.27671	1.000000	0.80357	0.762000	0.43233	2.669000	0.46825	2.557000	0.86248	0.555000	0.69702	CAC	MAPK8IP2	-	NULL		0.692	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	MAPK8IP2	HGNC	protein_coding		C	NM_012324		51041880	+1	no_errors	ENST00000329492	ensembl	human	known	70_37	missense	SNP	0.999	T
MUC16	94025	genome.wustl.edu	37	19	9083358	9083358	+	Silent	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:9083358C>T	ENST00000397910.4	-	1	8660	c.8457G>A	c.(8455-8457)ctG>ctA	p.L2819L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2819	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTCATGGTCAGAGGGAGAG	0.502																																																	0													108.0	102.0	104.0					19																	9083358		1996	4171	6167	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8457G>A	19.37:g.9083358C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L2819	ENST00000397910.4	37	c.8457	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9083358	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.004	T
MUC4	4585	genome.wustl.edu	37	3	195489068	195489068	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:195489068G>A	ENST00000346145.4	-	13	1733	c.1694C>T	c.(1693-1695)tCg>tTg	p.S565L	MUC4_ENST00000475231.1_Missense_Mutation_p.S4749L|MUC4_ENST00000463781.3_Missense_Mutation_p.S4801L|MUC4_ENST00000349607.4_Missense_Mutation_p.S514L	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1558					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGCTGGCCGAGACCTCAGA	0.687																																																	0													27.0	23.0	25.0					3																	195489068		2196	4293	6489	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1694C>T	3.37:g.195489068G>A	ENSP00000304207:p.Ser565Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S4801L	ENST00000346145.4	37	c.14402	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	.	13.75	2.331553	0.41297	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.93	4.93	0.64822	.	0.156175	0.30338	N	0.009846	T	0.69611	0.3130	M	0.76838	2.35	0.21897	N	0.999485	D;D;D;D;D;P	0.76494	0.999;0.98;0.994;0.992;0.992;0.705	D;P;P;P;P;B	0.66979	0.948;0.5;0.674;0.704;0.704;0.243	T	0.63220	-0.6686	10	0.20519	T	0.43	-15.1302	15.3857	0.74699	0.0:0.0:1.0:0.0	.	4673;514;565;4801;4749;1506	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	L	514;565;4801;4749	ENSP00000338109:S514L;ENSP00000304207:S565L;ENSP00000417498:S4801L;ENSP00000420243:S4749L	ENSP00000304207:S565L	S	-	2	0	MUC4	196974739	0.907000	0.30839	0.902000	0.35471	0.088000	0.18126	3.481000	0.53179	2.291000	0.77112	0.555000	0.69702	TCG	MUC4	-	pfam_VWF_type-D,smart_VWF_type-D		0.687	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	G	NM_018406		195489068	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.530	A
NEFM	4741	genome.wustl.edu	37	8	24771768	24771768	+	Silent	SNP	C	C	A	rs377550426		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:24771768C>A	ENST00000221166.5	+	1	1244	c.462C>A	c.(460-462)atC>atA	p.I154I	NEFM_ENST00000437366.2_Silent_p.I154I|NEFM_ENST00000518131.1_Silent_p.I154I|RP11-624C23.1_ENST00000519689.1_RNA|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_5'Flank			P07197	NFM_HUMAN	neurofilament, medium polypeptide	154	Coil 1B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ACCAGGAGATCCGCGAGCTGC	0.647																																																	0													26.0	28.0	27.0					8																	24771768		2200	4299	6499	SO:0001819	synonymous_variant	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.462C>A	8.37:g.24771768C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.I154	ENST00000221166.5	37	c.462	CCDS6046.1	8																																																																																			NEFM	-	pfam_F		0.647	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	C	NM_005382		24771768	+1	no_errors	ENST00000221166	ensembl	human	known	70_37	silent	SNP	1.000	A
NPAS4	266743	genome.wustl.edu	37	11	66192248	66192248	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:66192248G>T	ENST00000311034.2	+	7	2063	c.1887G>T	c.(1885-1887)caG>caT	p.Q629H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	629					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.Q629H(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AAAAGGAGCAGAATGAGATAG	0.572																																																	1	Substitution - Missense(1)	lung(1)											117.0	119.0	118.0					11																	66192248		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1887G>T	11.37:g.66192248G>T	ENSP00000311196:p.Gln629His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.Q629H	ENST00000311034.2	37	c.1887	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536482	0.13188	.	.	ENSG00000174576	ENST00000311034	T	0.46063	0.88	4.39	-0.933	0.10431	.	0.122857	0.37178	N	0.002219	T	0.18257	0.0438	N	0.08118	0	0.26108	N	0.980726	P	0.39964	0.697	B	0.35510	0.204	T	0.20605	-1.0270	10	0.56958	D	0.05	-8.6715	9.1319	0.36850	0.4319:0.0:0.5681:0.0	.	629	Q8IUM7	NPAS4_HUMAN	H	629	ENSP00000311196:Q629H	ENSP00000311196:Q629H	Q	+	3	2	NPAS4	65948824	0.998000	0.40836	0.812000	0.32479	0.498000	0.33706	0.950000	0.29122	-0.038000	0.13624	-0.140000	0.14226	CAG	NPAS4	-	NULL		0.572	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	G	NM_178864		66192248	+1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	0.634	T
NR2F1	7025	genome.wustl.edu	37	5	92929440	92929440	+	Silent	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:92929440C>T	ENST00000327111.3	+	3	2851	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	388					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TCGAGCAGCTCTTCTTCGTCC	0.567																																																	0													135.0	129.0	131.0					5																	92929440		2203	4300	6503	SO:0001819	synonymous_variant	7025			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1164C>T	5.37:g.92929440C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.L388	ENST00000327111.3	37	c.1164	CCDS4068.1	5																																																																																			NR2F1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF		0.567	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F1	HGNC	protein_coding	OTTHUMT00000239293.2	C	NM_005654		92929440	+1	no_errors	ENST00000327111	ensembl	human	known	70_37	silent	SNP	1.000	T
NR2F2	7026	genome.wustl.edu	37	15	96880708	96880708	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr15:96880708C>A	ENST00000394166.3	+	3	2491	c.1102C>A	c.(1102-1104)Cct>Act	p.P368T	NR2F2_ENST00000453270.2_Missense_Mutation_p.P215T|NR2F2_ENST00000421109.2_Missense_Mutation_p.P235T|NR2F2_ENST00000394171.2_Missense_Mutation_p.P215T	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	368	Important for dimerization.|Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCTTCGCCTCCCTTCCCTCCG	0.507																																																	0													161.0	146.0	151.0					15																	96880708		2197	4298	6495	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.1102C>A	15.37:g.96880708C>A	ENSP00000377721:p.Pro368Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.P368T	ENST00000394166.3	37	c.1102	CCDS10375.1	15	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552713	0.65425	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.96685	0.22;0.22;-4.09;-4.09	5.44	5.44	0.79542	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.97110	1.0;0.85	D	0.98243	1.0489	10	0.87932	D	0	.	19.6189	0.95647	0.0:1.0:0.0:0.0	.	368;235	P24468;Q3KQR7	COT2_HUMAN;.	T	235;368;215;215	ENSP00000401674:P235T;ENSP00000377721:P368T;ENSP00000377726:P215T;ENSP00000389853:P215T	ENSP00000377721:P368T	P	+	1	0	NR2F2	94681712	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.698000	0.92095	0.650000	0.86243	CCT	NR2F2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt		0.507	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F2	HGNC	protein_coding	OTTHUMT00000313534.1	C			96880708	+1	no_errors	ENST00000394166	ensembl	human	known	70_37	missense	SNP	1.000	A
NRN1	51299	genome.wustl.edu	37	6	6002607	6002607	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:6002607G>A	ENST00000244766.2	-	2	396	c.179C>T	c.(178-180)aCg>aTg	p.T60M	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	60					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CTTGATGTTCGTCTTGTCGTC	0.622																																																	0													160.0	133.0	142.0					6																	6002607		2203	4300	6503	SO:0001583	missense	51299			AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.179C>T	6.37:g.6002607G>A	ENSP00000244766:p.Thr60Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA93|Q7Z4Y1	Missense_Mutation	SNP	NULL	p.T60M	ENST00000244766.2	37	c.179	CCDS4495.1	6	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795126	0.31777	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	3.35	0.38373	.	0.365932	0.28047	N	0.016803	T	0.09247	0.0228	N	0.08118	0	0.28989	N	0.888189	B	0.25390	0.125	B	0.16722	0.016	T	0.15838	-1.0423	9	0.42905	T	0.14	-12.1762	10.9187	0.47152	0.0:0.4041:0.5959:0.0	.	60	Q9NPD7	NRN1_HUMAN	M	60	.	ENSP00000244766:T60M	T	-	2	0	NRN1	5947606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.123000	0.57917	0.967000	0.38186	0.462000	0.41574	ACG	NRN1	-	NULL		0.622	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRN1	HGNC	protein_coding	OTTHUMT00000039753.1	G			6002607	-1	no_errors	ENST00000244766	ensembl	human	known	70_37	missense	SNP	1.000	A
NUP188	23511	genome.wustl.edu	37	9	131768560	131768560	+	Silent	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:131768560C>G	ENST00000372577.2	+	43	5007	c.4986C>G	c.(4984-4986)ctC>ctG	p.L1662L	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1662					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTACCTGCTCATCTCTCAGG	0.567											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													119.0	116.0	117.0					9																	131768560		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4986C>G	9.37:g.131768560C>G		Somatic	1590	WXS	Illumina HiSeq	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.L1662	ENST00000372577.2	37	c.4986	CCDS35156.1	9																																																																																			NUP188	-	NULL		0.567	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131768560	+1	no_errors	ENST00000372577	ensembl	human	known	70_37	silent	SNP	1.000	G
NUP188	23511	genome.wustl.edu	37	9	131768567	131768567	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:131768567C>T	ENST00000372577.2	+	43	5014	c.4993C>T	c.(4993-4995)Cag>Tag	p.Q1665*	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1665					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTCATCTCTCAGGCGATGCG	0.572											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													120.0	118.0	119.0					9																	131768567		2203	4300	6503	SO:0001587	stop_gained	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4993C>T	9.37:g.131768567C>T	ENSP00000361658:p.Gln1665*	Somatic	1590	WXS	Illumina HiSeq	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Nonsense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.Q1665*	ENST00000372577.2	37	c.4993	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	44	11.089757	0.99514	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-19.9331	18.4285	0.90617	0.0:1.0:0.0:0.0	.	.	.	.	X	1554;1665	.	ENSP00000349125:Q1554X	Q	+	1	0	NUP188	130808388	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.298000	0.78815	2.586000	0.87340	0.561000	0.74099	CAG	NUP188	-	NULL		0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131768567	+1	no_errors	ENST00000372577	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NUP98	4928	genome.wustl.edu	37	11	3740767	3740767	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:3740767G>C	ENST00000324932.7	-	18	2694	c.2274C>G	c.(2272-2274)atC>atG	p.I758M	NUP98_ENST00000359171.4_Missense_Mutation_p.I758M|NUP98_ENST00000397004.4_Missense_Mutation_p.I758M|NUP98_ENST00000355260.3_Missense_Mutation_p.I758M|NUP98_ENST00000397007.4_Missense_Mutation_p.I775M	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	775	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTTCAAAATAGATTGAACCAT	0.308			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													55.0	53.0	54.0					11																	3740767		2201	4294	6495	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2274C>G	11.37:g.3740767G>C	ENSP00000316032:p.Ile758Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.I758M	ENST00000324932.7	37	c.2274	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274405	0.59649	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.37	3.43	0.39272	.	0.055226	0.64402	D	0.000001	T	0.77465	0.4134	M	0.88842	2.985	0.39932	D	0.9743	D;D;D;D	0.89917	0.988;0.975;1.0;0.996	P;P;D;D	0.74348	0.884;0.783;0.983;0.976	T	0.78615	-0.2135	9	0.87932	D	0	.	5.072	0.14611	0.1683:0.0:0.6364:0.1953	.	775;758;758;758	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	M	758;758;758;758;775	.	ENSP00000316032:I758M	I	-	3	3	NUP98	3697343	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.359000	0.20233	1.197000	0.43143	0.563000	0.77884	ATC	NUP98	-	pfam_Peptidase_S59,superfamily_Peptidase_S59		0.308	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	G	NM_016320		3740767	-1	no_errors	ENST00000324932	ensembl	human	known	70_37	missense	SNP	1.000	C
OR4C11	219429	genome.wustl.edu	37	11	55371330	55371330	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:55371330G>A	ENST00000302231.4	-	1	544	c.520C>T	c.(520-522)Cat>Tat	p.H174Y		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CAGCAATAATGATCAATCAAA	0.438																																																	0													74.0	63.0	67.0					11																	55371330		2177	4011	6188	SO:0001583	missense	219429			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.520C>T	11.37:g.55371330G>A	ENSP00000306651:p.His174Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIL4|Q8NGL8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H174Y	ENST00000302231.4	37	c.520	CCDS31503.1	11	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249894	0.39797	.	.	ENSG00000172188	ENST00000302231	T	0.00183	8.6	4.34	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	U	0.000117	T	0.00496	0.0016	M	0.88105	2.93	0.09310	N	1	D	0.76494	0.999	D	0.69824	0.966	T	0.38478	-0.9659	10	0.87932	D	0	.	4.1414	0.10194	0.194:0.0:0.6219:0.1842	.	174	Q6IEV9	OR4CB_HUMAN	Y	174	ENSP00000306651:H174Y	ENSP00000306651:H174Y	H	-	1	0	OR4C11	55127906	0.001000	0.12720	0.994000	0.49952	0.794000	0.44872	0.777000	0.26718	1.190000	0.43042	0.478000	0.44815	CAT	OR4C11	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	HGNC	protein_coding	OTTHUMT00000383268.1	G	NM_001004700		55371330	-1	no_errors	ENST00000302231	ensembl	human	known	70_37	missense	SNP	0.003	A
OR5H6	79295	genome.wustl.edu	37	3	97983729	97983729	+	Silent	SNP	T	T	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:97983729T>C	ENST00000383696.2	+	1	642	c.601T>C	c.(601-603)Tta>Cta	p.L201L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TATCCCATTGTTAAAGATTTC	0.313																																																	0													64.0	68.0	66.0					3																	97983729		2201	4296	6497	SO:0001819	synonymous_variant	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.601T>C	3.37:g.97983729T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF88	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L201	ENST00000383696.2	37	c.601	CCDS33800.1	3																																																																																			OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.313	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	T			97983729	+1	no_errors	ENST00000383696	ensembl	human	known	70_37	silent	SNP	0.053	C
OSBPL5	114879	genome.wustl.edu	37	11	3124503	3124503	+	Missense_Mutation	SNP	C	C	T	rs367840281		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:3124503C>T	ENST00000263650.7	-	11	1451	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q	OSBPL5_ENST00000542243.1_Missense_Mutation_p.R62Q|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R363Q|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R363Q|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R342Q	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	431					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CAGGTACCACCGCAGCACCAG	0.687																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG	1,4403		0,1,2201	44.0	39.0	40.0		1088,1292,1088	1.1	0.6	11		40	1,8593		0,1,4296	no	missense,missense,missense	OSBPL5	NM_001144063.1,NM_020896.3,NM_145638.2	43,43,43	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	363/812,431/880,363/812	3124503	2,12996	2202	4297	6499	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1292G>A	11.37:g.3124503C>T	ENSP00000263650:p.Arg431Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R431Q	ENST00000263650.7	37	c.1292	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581254	0.28180	2.27E-4	1.16E-4	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.03	1.09	0.20402	.	0.071260	0.53938	N	0.000055	T	0.20861	0.0502	L	0.42581	1.335	0.37995	D	0.934059	B;B;B;B	0.22211	0.058;0.058;0.066;0.03	B;B;B;B	0.21360	0.01;0.023;0.034;0.015	T	0.12167	-1.0558	10	0.17832	T	0.49	0.7912	7.8652	0.29533	0.0:0.6641:0.0:0.3359	.	342;392;363;431	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	Q	431;363;342;62;363;50	ENSP00000263650:R431Q;ENSP00000374639:R363Q;ENSP00000433342:R342Q;ENSP00000441551:R62Q;ENSP00000302872:R363Q	ENSP00000263650:R431Q	R	-	2	0	OSBPL5	3081079	0.000000	0.05858	0.577000	0.28562	0.961000	0.63080	-0.472000	0.06623	0.047000	0.15862	-0.263000	0.10527	CGG	OSBPL5	-	pfam_Oxysterol-bd		0.687	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	C			3124503	-1	no_errors	ENST00000263650	ensembl	human	known	70_37	missense	SNP	0.818	T
PARD3	56288	genome.wustl.edu	37	10	34400467	34400467	+	Missense_Mutation	SNP	G	G	A	rs377613171		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:34400467G>A	ENST00000374789.3	-	25	4026	c.3701C>T	c.(3700-3702)tCg>tTg	p.S1234L	PARD3_ENST00000350537.4_Missense_Mutation_p.S1188L|PARD3_ENST00000545260.1_Missense_Mutation_p.S1144L|PARD3_ENST00000374790.3_Missense_Mutation_p.S1174L|PARD3_ENST00000346874.4_Missense_Mutation_p.S1197L|PARD3_ENST00000374788.3_Missense_Mutation_p.S1231L|PARD3_ENST00000545693.1_Missense_Mutation_p.S1218L|PARD3_ENST00000374794.3_Missense_Mutation_p.S1122L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1234					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGGGAGACCGAGCTGGCATT	0.557																																																	0								G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	49.0	51.0	50.0		3692,3653,3590,3563,3452,3431,3365,3701	5.0	0.8	10		50	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense,missense	PARD3	NM_001184785.1,NM_001184786.1,NM_001184787.1,NM_001184788.1,NM_001184789.1,NM_001184790.1,NM_001184791.1,NM_019619.3	145,145,145,145,145,145,145,145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1231/1354,1218/1341,1197/1320,1188/1311,1151/1274,1144/1267,1122/1245,1234/1357	34400467	2,13004	2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3701C>T	10.37:g.34400467G>A	ENSP00000363921:p.Ser1234Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1234L	ENST00000374789.3	37	c.3701	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182505	0.57800	0.0	2.33E-4	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.14391	2.53;2.52;2.59;2.59;2.57;2.51;2.52;2.53	5.87	4.96	0.65561	.	0.289683	0.40640	N	0.001050	T	0.13798	0.0334	L	0.44542	1.39	0.80722	D	1	P;P;P;P;P;P;P;P	0.46784	0.884;0.531;0.884;0.884;0.884;0.884;0.884;0.816	B;B;B;B;B;B;B;B	0.37267	0.245;0.057;0.245;0.245;0.245;0.245;0.245;0.124	T	0.02109	-1.1212	10	0.59425	D	0.04	.	16.933	0.86196	0.0:0.1379:0.8621:0.0	.	1122;1144;1151;1188;1218;1197;1231;1234	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	L	1218;1144;1234;1231;1197;1122;1188;1174	ENSP00000443147:S1218L;ENSP00000440857:S1144L;ENSP00000363921:S1234L;ENSP00000363920:S1231L;ENSP00000340591:S1197L;ENSP00000363926:S1122L;ENSP00000311986:S1188L;ENSP00000363922:S1174L	ENSP00000340591:S1197L	S	-	2	0	PARD3	34440473	1.000000	0.71417	0.822000	0.32727	0.983000	0.72400	6.310000	0.72830	1.594000	0.50039	0.655000	0.94253	TCG	PARD3	-	NULL		0.557	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	G	NM_019619		34400467	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	0.995	A
PCDHA7	56141	genome.wustl.edu	37	5	140215295	140215295	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:140215295G>A	ENST00000525929.1	+	1	1327	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V443M|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCGTGTCCGTGGAGGTGGC	0.662																																					NSCLC(160;258 2013 5070 22440 28951)												0													76.0	79.0	78.0					5																	140215295		2203	4298	6501	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1327G>A	5.37:g.140215295G>A	ENSP00000436426:p.Val443Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V443M	ENST00000525929.1	37	c.1327	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259244	0.39995	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.72725	-0.68;-0.68	4.04	4.04	0.47022	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.29066	U	0.013244	D	0.87759	0.6258	M	0.93854	3.465	0.22719	N	0.998817	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.82285	-0.0533	10	0.72032	D	0.01	.	16.5697	0.84608	0.0:0.0:1.0:0.0	.	443;443	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	M	443	ENSP00000436426:V443M;ENSP00000367365:V443M	ENSP00000367365:V443M	V	+	1	0	PCDHA7	140195479	1.000000	0.71417	0.976000	0.42696	0.266000	0.26442	3.235000	0.51328	1.955000	0.56771	0.305000	0.20034	GTG	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.662	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	G	NM_018910		140215295	+1	no_errors	ENST00000525929	ensembl	human	known	70_37	missense	SNP	0.891	A
PCDH12	51294	genome.wustl.edu	37	5	141324975	141324976	+	Missense_Mutation	DNP	CT	CT	TG	rs13188049|rs3833449		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C|T	C|T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr5:141324975_141324976CT>TG	ENST00000231484.3	-	4	4735_4736	c.3525_3526AG>CA	c.(3523-3528)agAGgc>agCAgc	p.1175_1176RG>SS		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1175					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ctgctgctgcctctgctCTTGC	0.584																																																	0																																										SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3525_3526delinsTG	5.37:g.141324975_141324976delinsTG	ENSP00000231484:p.R1175_G1176delinsSS	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1176S|p.R1175S	ENST00000231484.3	37	c.3526|c.3525	CCDS4269.1	5																																																																																			PCDH12	-	NULL		0.584	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	C|T	NM_016580		141324975|141324976	-1	no_errors	ENST00000231484	ensembl	human	known	70_37	missense	SNP	0.010|0.004	T|G
PGM3	5238	genome.wustl.edu	37	6	83898421	83898421	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr6:83898421C>T	ENST00000283977.4	-	2	184	c.58G>A	c.(58-60)Gat>Aat	p.D20N	PGM3_ENST00000506587.1_Missense_Mutation_p.D129N|PGM3_ENST00000513973.1_Missense_Mutation_p.D101N|PGM3_ENST00000512866.1_Missense_Mutation_p.D101N					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CTCTGCATATCTTGTTCCTCA	0.423																																																	0													162.0	131.0	142.0					6																	83898421		2203	4300	6503	SO:0001583	missense	5238			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.58G>A	6.37:g.83898421C>T	ENSP00000283977:p.Asp20Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM	p.D101N	ENST00000283977.4	37	c.301		6	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623475	0.28889	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000510258;ENST00000507554;ENST00000508748	T;T;T;T;T;T	0.62941	0.86;0.86;0.87;-0.01;-0.01;-0.01	5.82	4.03	0.46877	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.247382	0.48767	D	0.000172	T	0.41696	0.1170	L	0.48362	1.52	0.41770	D	0.989766	B;B;B	0.15719	0.014;0.007;0.011	B;B;B	0.27076	0.076;0.05;0.048	T	0.42899	-0.9424	10	0.56958	D	0.05	-10.8054	11.8283	0.52280	0.0:0.8104:0.1233:0.0663	.	129;129;101	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	N	101;101;20;129;20;101;129	ENSP00000424874:D101N;ENSP00000421565:D101N;ENSP00000283977:D20N;ENSP00000425809:D129N;ENSP00000425558:D101N;ENSP00000424865:D129N	ENSP00000283977:D20N	D	-	1	0	PGM3	83955140	0.886000	0.30341	0.010000	0.14722	0.008000	0.06430	1.926000	0.40084	0.803000	0.34113	0.650000	0.86243	GAT	PGM3	-	superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM		0.423	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	PGM3	HGNC	protein_coding	OTTHUMT00000366385.2	C	NM_015599		83898421	-1	no_errors	ENST00000513973	ensembl	human	known	70_37	missense	SNP	0.848	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PITPNM1	9600	genome.wustl.edu	37	11	67260519	67260519	+	Silent	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr11:67260519G>A	ENST00000534749.1	-	22	3545	c.3357C>T	c.(3355-3357)atC>atT	p.I1119I	PITPNM1_ENST00000356404.3_Silent_p.I1119I|PITPNM1_ENST00000436757.2_Silent_p.I1118I|PITPNM1_ENST00000526450.1_5'Flank			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1119					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AACCGGCCACGATGTTCAGTT	0.647																																					GBM(28;144 709 4607 5525)												0													101.0	109.0	106.0					11																	67260519		2200	4295	6495	SO:0001819	synonymous_variant	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3357C>T	11.37:g.67260519G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.I1119	ENST00000534749.1	37	c.3357	CCDS31620.1	11																																																																																			PITPNM1	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.647	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1	G	NM_004910		67260519	-1	no_errors	ENST00000356404	ensembl	human	known	70_37	silent	SNP	1.000	A
PLK1	5347	genome.wustl.edu	37	16	23695351	23695351	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr16:23695351C>T	ENST00000300093.4	+	5	1088	c.977C>T	c.(976-978)tCg>tTg	p.S326L		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	326					activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.S326L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCAAGGTTTTCGATTGCTCCC	0.547																																					Colon(12;240 564 27038 33155)												1	Substitution - Missense(1)	large_intestine(1)											133.0	137.0	136.0					16																	23695351		2197	4300	6497	SO:0001583	missense	5347				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.977C>T	16.37:g.23695351C>T	ENSP00000300093:p.Ser326Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15153|Q99746	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.S326L	ENST00000300093.4	37	c.977	CCDS10616.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947513	0.73672	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.22539	1.95	5.28	5.28	0.74379	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	M	0.70595	2.14	0.80722	D	1	P	0.39520	0.676	B	0.27170	0.077	T	0.08086	-1.0739	10	0.48119	T	0.1	-9.6738	16.7603	0.85510	0.0:1.0:0.0:0.0	.	326	P53350	PLK1_HUMAN	L	326;229	ENSP00000300093:S326L	ENSP00000300093:S326L	S	+	2	0	PLK1	23602852	1.000000	0.71417	0.919000	0.36401	0.898000	0.52572	7.169000	0.77578	2.620000	0.88729	0.655000	0.94253	TCG	PLK1	-	superfamily_Kinase-like_dom		0.547	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK1	HGNC	protein_coding	OTTHUMT00000214057.2	C	NM_005030		23695351	+1	no_errors	ENST00000300093	ensembl	human	known	70_37	missense	SNP	1.000	T
PNLIPRP1	5407	genome.wustl.edu	37	10	118359565	118359565	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:118359565G>T	ENST00000528052.1	+	9	892	c.821G>T	c.(820-822)cGg>cTg	p.R274L	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R274L|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R274L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	274					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCAGGAACCCGGGACTTTGTG	0.488																																																	0													110.0	115.0	113.0					10																	118359565		2203	4300	6503	SO:0001583	missense	5407			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.821G>T	10.37:g.118359565G>T	ENSP00000433933:p.Arg274Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.R274L	ENST00000528052.1	37	c.821	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	G	9.987	1.229651	0.22542	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	D;D;D	0.90844	-2.74;-2.74;-2.74	5.22	0.202	0.15190	Lipase, N-terminal (1);	0.505731	0.18928	N	0.127291	D	0.87553	0.6206	M	0.71581	2.175	0.80722	D	1	B	0.22746	0.074	B	0.23275	0.045	T	0.79022	-0.1973	10	0.45353	T	0.12	-2.8247	8.8504	0.35196	0.3956:0.0:0.6044:0.0	.	274	P54315	LIPR1_HUMAN	L	274	ENSP00000351695:R274L;ENSP00000433933:R274L;ENSP00000434159:R274L	ENSP00000351695:R274L	R	+	2	0	PNLIPRP1	118349555	1.000000	0.71417	0.939000	0.37840	0.963000	0.63663	1.082000	0.30803	-0.149000	0.11215	-0.126000	0.14955	CGG	PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.488	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	G	NM_006229		118359565	+1	no_errors	ENST00000358834	ensembl	human	known	70_37	missense	SNP	0.996	T
POLR2B	5431	genome.wustl.edu	37	4	57883348	57883348	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:57883348C>T	ENST00000381227.1	+	16	2508	c.2095C>T	c.(2095-2097)Cat>Tat	p.H699Y	POLR2B_ENST00000431623.2_Missense_Mutation_p.H624Y|POLR2B_ENST00000314595.5_Missense_Mutation_p.H699Y|POLR2B_ENST00000441246.2_Missense_Mutation_p.H692Y			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	699					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CTGTGAGATTCATCCCTCAAT	0.413																																																	0													349.0	321.0	330.0					4																	57883348		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2095C>T	4.37:g.57883348C>T	ENSP00000370625:p.His699Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.H699Y	ENST00000381227.1	37	c.2095	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473419	0.84640	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.91	4.91	0.64330	RNA polymerase Rpb2, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	H	0.98577	4.27	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.69307	0.963;0.963	D	0.95754	0.8794	10	0.87932	D	0	.	18.4516	0.90705	0.0:1.0:0.0:0.0	.	624;699	C9J4M6;P30876	.;RPB2_HUMAN	Y	699;624;692;699	ENSP00000370625:H699Y;ENSP00000391096:H624Y;ENSP00000391452:H692Y;ENSP00000312735:H699Y	ENSP00000312735:H699Y	H	+	1	0	POLR2B	57578105	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.772000	0.85439	2.417000	0.82017	0.462000	0.41574	CAT	POLR2B	-	pfam_RNA_pol_Rpb2_5		0.413	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	C	NM_000938		57883348	+1	no_errors	ENST00000314595	ensembl	human	known	70_37	missense	SNP	1.000	T
POTEE	445582	genome.wustl.edu	37	2	131976213	131976213	+	Missense_Mutation	SNP	G	G	A	rs370032960		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:131976213G>A	ENST00000356920.5	+	1	332	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.V80M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	80					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CAAGAGCAACGTGGGCGCTTC	0.602																																																	0								G	MET/VAL	0,4406		0,0,2203	95.0	96.0	95.0		238	-0.8	0.0	2		95	1,8593		0,1,4296	no	missense	POTEE	NM_001083538.1	21	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	80/1076	131976213	1,12999	2203	4297	6500	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.238G>A	2.37:g.131976213G>A	ENSP00000439189:p.Val80Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.V80M	ENST00000356920.5	37	c.238	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	4.795	0.147792	0.09134	0.0	1.16E-4	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.80480	-1.38;1.46	0.399	-0.799	0.10901	.	.	.	.	.	T	0.52224	0.1721	N	0.17082	0.46	0.09310	N	1	D	0.58620	0.983	B	0.30105	0.111	T	0.54241	-0.8323	8	0.87932	D	0	.	.	.	.	.	80	Q6S8J3	POTEE_HUMAN	M	80	ENSP00000439189:V80M;ENSP00000443049:V80M	ENSP00000439189:V80M	V	+	1	0	AC131180.1	131692683	0.001000	0.12720	0.001000	0.08648	0.035000	0.12851	-0.373000	0.07494	-1.746000	0.01335	-1.565000	0.00878	GTG	POTEE	-	NULL		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Uniprot_genename	protein_coding		G	NM_001083538		131976213	+1	no_errors	ENST00000356920	ensembl	human	known	70_37	missense	SNP	0.001	A
PPP2R1A	5518	genome.wustl.edu	37	19	52723027	52723027	+	Silent	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:52723027G>C	ENST00000322088.6	+	10	1270	c.1212G>C	c.(1210-1212)ctG>ctC	p.L404L	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000444322.2_Silent_p.L349L|PPP2R1A_ENST00000462990.1_Silent_p.L225L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	404	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCAGTCCCTGCTCCCTGCCA	0.597			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	0													74.0	67.0	69.0					19																	52723027		2203	4300	6503	SO:0001819	synonymous_variant	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1212G>C	19.37:g.52723027G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13773|Q6ICQ3|Q96DH3	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L404	ENST00000322088.6	37	c.1212	CCDS12849.1	19																																																																																			PPP2R1A	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.597	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	G	NM_014225		52723027	+1	no_errors	ENST00000322088	ensembl	human	known	70_37	silent	SNP	1.000	C
RAD54L	8438	genome.wustl.edu	37	1	46714226	46714226	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:46714226G>A	ENST00000371975.4	+	2	720	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	RAD54L_ENST00000442598.1_Missense_Mutation_p.E16K	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	16					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GAGAAAACCTGAAGGCAGGTC	0.547								Direct reversal of damage;Homologous recombination																																									0													66.0	69.0	68.0					1																	46714226		2203	4300	6503	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.46G>A	1.37:g.46714226G>A	ENSP00000361043:p.Glu16Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TE31|Q6IUY3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E16K	ENST00000371975.4	37	c.46	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	G	4.211	0.037882	0.08148	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88354	-2.37;-2.37	5.69	4.77	0.60923	.	0.577952	0.18060	N	0.152998	T	0.76176	0.3951	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53085	-0.8488	10	0.06365	T	0.9	-2.7117	14.9855	0.71345	0.0:0.1424:0.8576:0.0	.	16	Q92698	RAD54_HUMAN	K	16	ENSP00000396113:E16K;ENSP00000361043:E16K	ENSP00000361043:E16K	E	+	1	0	RAD54L	46486813	0.822000	0.29219	0.044000	0.18714	0.004000	0.04260	5.916000	0.69981	1.522000	0.49001	-0.175000	0.13238	GAA	RAD54L	-	NULL		0.547	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	G	NM_003579		46714226	+1	no_errors	ENST00000371975	ensembl	human	known	70_37	missense	SNP	0.088	A
RAPGEF1	2889	genome.wustl.edu	37	9	134458080	134458080	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:134458080C>T	ENST00000372189.3	-	22	2989	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E974K|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.E973K	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	956	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTGCAGTACTCGGCCAGGCCC	0.657																																																	0													57.0	70.0	66.0					9																	134458080		2104	4214	6318	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2866G>A	9.37:g.134458080C>T	ENSP00000361263:p.Glu956Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E974K	ENST00000372189.3	37	c.2920	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.393626	0.96009	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.30714	1.52;1.52;1.52	4.93	4.93	0.64822	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.50311	-0.8843	10	0.49607	T	0.09	.	16.6966	0.85337	0.0:1.0:0.0:0.0	.	956;974	Q13905;Q13905-3	RPGF1_HUMAN;.	K	956;973;902;956;974;936;934;973	ENSP00000361269:E973K;ENSP00000361263:E956K;ENSP00000361264:E974K	ENSP00000266110:E956K	E	-	1	0	RAPGEF1	133447901	1.000000	0.71417	0.944000	0.38274	0.977000	0.68977	7.441000	0.80485	2.276000	0.75962	0.561000	0.74099	GAG	RAPGEF1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.657	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	C	NM_005312		134458080	-1	no_errors	ENST00000372190	ensembl	human	known	70_37	missense	SNP	0.999	T
RASA2	5922	genome.wustl.edu	37	3	141291508	141291508	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:141291508G>A	ENST00000452898.1	+	12	1262	c.1227G>A	c.(1225-1227)atG>atA	p.M409I	RASA2_ENST00000286364.3_Missense_Mutation_p.M409I	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	409	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGGATGAGATGATGAAAATAG	0.363																																																	0													113.0	113.0	113.0					3																	141291508		2203	4300	6503	SO:0001583	missense	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1227G>A	3.37:g.141291508G>A	ENSP00000391677:p.Met409Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.M409I	ENST00000452898.1	37	c.1227		3	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327645	0.60743	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.78816	-1.21;-1.21	5.76	5.76	0.90799	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.045899	0.85682	D	0.000000	T	0.67674	0.2918	L	0.27053	0.805	0.58432	D	0.999995	P;B;B;B	0.43231	0.801;0.24;0.202;0.24	B;B;B;B	0.39771	0.192;0.309;0.205;0.309	T	0.69752	-0.5060	10	0.42905	T	0.14	.	14.7835	0.69784	0.0:0.0:0.8558:0.1442	.	1;409;409;409	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	I	409;409;1	ENSP00000286364:M409I;ENSP00000391677:M409I	ENSP00000286364:M409I	M	+	3	0	RASA2	142774198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	2.706000	0.92434	0.655000	0.94253	ATG	RASA2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.363	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141291508	+1	no_errors	ENST00000452898	ensembl	human	known	70_37	missense	SNP	1.000	A
RASIP1	54922	genome.wustl.edu	37	19	49230396	49230396	+	Missense_Mutation	SNP	C	C	T	rs371513864		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:49230396C>T	ENST00000222145.4	-	7	2095	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	631	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGGGGCACCTCGGGGACCCCC	0.547																																																	0								C	LYS/GLU	0,4406		0,0,2203	33.0	36.0	35.0		1891	5.5	0.5	19		35	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASIP1	NM_017805.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	631/964	49230396	1,13005	2203	4300	6503	SO:0001583	missense	54922			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1891G>A	19.37:g.49230396C>T	ENSP00000222145:p.Glu631Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6U676	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.E631K	ENST00000222145.4	37	c.1891	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939317	0.34189	0.0	1.16E-4	ENSG00000105538	ENST00000222145	T	0.23552	1.9	5.46	5.46	0.80206	Dilute (1);	0.227351	0.35870	N	0.002936	T	0.19565	0.0470	L	0.36672	1.1	0.46609	D	0.999121	B	0.26363	0.147	B	0.18561	0.022	T	0.03784	-1.1004	10	0.22706	T	0.39	-4.6205	12.854	0.57873	0.0:0.836:0.164:0.0	.	631	Q5U651	RAIN_HUMAN	K	631	ENSP00000222145:E631K	ENSP00000222145:E631K	E	-	1	0	RASIP1	53922208	0.844000	0.29557	0.490000	0.27465	0.653000	0.38743	2.217000	0.42880	2.742000	0.94016	0.591000	0.81541	GAG	RASIP1	-	pfscan_Dilute		0.547	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	C	NM_017805		49230396	-1	no_errors	ENST00000222145	ensembl	human	known	70_37	missense	SNP	0.957	T
RC3H2	54542	genome.wustl.edu	37	9	125617541	125617541	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr9:125617541G>A	ENST00000373670.1	-	14	3337	c.2737C>T	c.(2737-2739)Cgt>Tgt	p.R913C	RC3H2_ENST00000357244.2_Missense_Mutation_p.R913C|RC3H2_ENST00000423239.2_Missense_Mutation_p.R913C			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	913					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TAACCTGTACGGGAAGATCTG	0.438																																																	0													127.0	123.0	124.0					9																	125617541		1922	4131	6053	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2737C>T	9.37:g.125617541G>A	ENSP00000362774:p.Arg913Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R913C	ENST00000373670.1	37	c.2737	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245572	0.80024	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000398671	T;T;T	0.52295	0.67;0.67;0.69	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.973;0.988	T	0.62315	-0.6880	10	0.87932	D	0	0.8726	15.7736	0.78190	0.0:0.0:1.0:0.0	.	913;913	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	C	913;913;784;913;48	ENSP00000362774:R913C;ENSP00000349783:R913C;ENSP00000411767:R913C	ENSP00000349783:R913C	R	-	1	0	RC3H2	124657362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.043000	0.76572	2.449000	0.82847	0.655000	0.94253	CGT	RC3H2	-	NULL		0.438	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	G	NM_018835		125617541	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	missense	SNP	1.000	A
RPL4	6124	genome.wustl.edu	37	15	66793301	66793301	+	Silent	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr15:66793301G>C	ENST00000307961.6	-	7	911	c.819C>G	c.(817-819)ctC>ctG	p.L273L	SNORD16_ENST00000362803.1_RNA|SNORD18C_ENST00000362704.1_RNA|RPL4_ENST00000568588.1_Silent_p.L179L|SNORD18B_ENST00000365659.1_RNA|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	273					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						AGTTACTCTTGAGGGAAGCGG	0.388																																																	0													90.0	88.0	88.0					15																	66793301		2201	4299	6500	SO:0001819	synonymous_variant	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.819C>G	15.37:g.66793301G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K502|P39029|Q4VBR0|Q969Z9	Silent	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom	p.L273	ENST00000307961.6	37	c.819	CCDS10218.1	15																																																																																			RPL4	-	NULL		0.388	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	HGNC	protein_coding	OTTHUMT00000256903.2	G	NM_000968		66793301	-1	no_errors	ENST00000307961	ensembl	human	known	70_37	silent	SNP	0.993	C
RSPRY1	89970	genome.wustl.edu	37	16	57264655	57264655	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr16:57264655G>A	ENST00000537866.1	+	12	2179	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.E436K			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	436	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGACTTGAATGAAAAGCAAAT	0.373																																																	0													104.0	96.0	99.0					16																	57264655		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1306G>A	16.37:g.57264655G>A	ENSP00000443176:p.Glu436Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX21|Q8ND53	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.E436K	ENST00000537866.1	37	c.1306	CCDS10775.1	16	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717939	0.30413	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.69561	-0.41;-0.41	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.046874	0.85682	D	0.000000	T	0.38134	0.1029	N	0.03000	-0.44	0.54753	D	0.999989	B	0.02656	0.0	B	0.08055	0.003	T	0.42464	-0.9450	10	0.02654	T	1	.	13.6254	0.62161	0.0702:0.0:0.9297:0.0	.	436	Q96DX4	RSPRY_HUMAN	K	436	ENSP00000377942:E436K;ENSP00000443176:E436K	ENSP00000377942:E436K	E	+	1	0	RSPRY1	55822156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.275000	0.78548	2.835000	0.97688	0.650000	0.86243	GAA	RSPRY1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.373	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSPRY1	HGNC	protein_coding	OTTHUMT00000432953.1	G	NM_133368		57264655	+1	no_errors	ENST00000394420	ensembl	human	known	70_37	missense	SNP	1.000	A
WHSC1	7468	genome.wustl.edu	37	4	1976411	1976411	+	Intron	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:1976411G>A	ENST00000382895.3	+	21	3803				WHSC1_ENST00000482415.2_Intron|WHSC1_ENST00000382891.5_Intron|WHSC1_ENST00000508803.1_Intron|SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000382888.3_Intron|WHSC1_ENST00000382892.2_Intron	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1						anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTGTCCTCTGTGAGCAAGAG	0.562			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													149.0	136.0	140.0					4																	1976411		876	1991	2867	SO:0001627	intron_variant	677770			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3373-179G>A	4.37:g.1976411G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	RNA	SNP	-	NULL	ENST00000382895.3	37	NULL	CCDS33940.1	4																																																																																			SCARNA22	-	-		0.562	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARNA22	HGNC	protein_coding	OTTHUMT00000366269.2	G	NM_133330		1976411	+1	no_errors	ENST00000503991	ensembl	human	known	70_37	rna	SNP	0.001	A
SETD2	29072	genome.wustl.edu	37	3	47125724	47125724	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:47125724G>A	ENST00000409792.3	-	12	5588	c.5546C>T	c.(5545-5547)tCg>tTg	p.S1849L	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1849					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGAGCACGCGATGTATTCTC	0.468			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													116.0	100.0	105.0					3																	47125724		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5546C>T	3.37:g.47125724G>A	ENSP00000386759:p.Ser1849Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.S1849L	ENST00000409792.3	37	c.5546	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963415	0.92791	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24350	1.86	5.09	5.09	0.68999	.	0.000000	0.44902	D	0.000417	T	0.46308	0.1386	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.17899	-1.0354	10	0.33141	T	0.24	.	18.8641	0.92283	0.0:0.0:1.0:0.0	.	1849;1849	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	1849	ENSP00000386759:S1849L	ENSP00000386759:S1849L	S	-	2	0	SETD2	47100728	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.283000	0.95860	2.516000	0.84829	0.650000	0.86243	TCG	SETD2	-	NULL		0.468	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	G	NM_014159		47125724	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	1.000	A
SF3B1	23451	genome.wustl.edu	37	2	198260882	198260882	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:198260882C>G	ENST00000335508.6	-	23	3528	c.3437G>C	c.(3436-3438)gGa>gCa	p.G1146A		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1146					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTTAACACTCCATTTTGAAC	0.363			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0													158.0	151.0	154.0					2																	198260882		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3437G>C	2.37:g.198260882C>G	ENSP00000335321:p.Gly1146Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.G1146A	ENST00000335508.6	37	c.3437	CCDS33356.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.888329|4.888329	0.91814|0.91814	.|.	.|.	ENSG00000115524|ENSG00000115524	ENST00000424674|ENST00000335508	.|T	.|0.64085	.|-0.08	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84737|0.84737	0.5538|0.5538	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.86918|0.86918	0.2065|0.2065	5|10	.|0.87932	.|D	.|0	.|.	20.3539|20.3539	0.98825|0.98825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1146	.|O75533	.|SF3B1_HUMAN	Q|A	162|1146	.|ENSP00000335321:G1146A	.|ENSP00000335321:G1146A	E|G	-|-	1|2	0|0	SF3B1|SF3B1	197969127|197969127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.743000|7.743000	0.85020|0.85020	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|GGA	SF3B1	-	superfamily_ARM-type_fold		0.363	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	C			198260882	-1	no_errors	ENST00000335508	ensembl	human	known	70_37	missense	SNP	1.000	G
SF3B1	23451	genome.wustl.edu	37	2	198260896	198260896	+	Silent	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:198260896C>T	ENST00000335508.6	-	23	3514	c.3423G>A	c.(3421-3423)ctG>ctA	p.L1141L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1141					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTGAACATTCAGTTCAGGAA	0.373			Mis		myelodysplastic syndrome																																			Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0													164.0	157.0	160.0					2																	198260896		2203	4300	6503	SO:0001819	synonymous_variant	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3423G>A	2.37:g.198260896C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PCH3	Silent	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.L1141	ENST00000335508.6	37	c.3423	CCDS33356.1	2																																																																																			SF3B1	-	superfamily_ARM-type_fold		0.373	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	C			198260896	-1	no_errors	ENST00000335508	ensembl	human	known	70_37	silent	SNP	1.000	T
SIGLEC8	27181	genome.wustl.edu	37	19	51961392	51961392	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:51961392G>T	ENST00000321424.3	-	1	316	c.250C>A	c.(250-252)Cca>Aca	p.P84T	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P84T|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P84T	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	84	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTCTGTCTGGGTTGTTTGTG	0.582																																																	0													182.0	158.0	166.0					19																	51961392		2203	4300	6503	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.250C>A	19.37:g.51961392G>T	ENSP00000321077:p.Pro84Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z728	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P84T	ENST00000321424.3	37	c.250	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	16.37	3.103397	0.56291	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.45668	0.89;0.89;0.89	2.04	2.04	0.26737	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.201062	0.24791	N	0.035570	T	0.63570	0.2522	M	0.91920	3.255	0.09310	N	1	D;P;P	0.62365	0.991;0.939;0.729	D;P;P	0.63488	0.915;0.507;0.681	T	0.52939	-0.8508	10	0.52906	T	0.07	.	7.6512	0.28350	0.0:0.0:1.0:0.0	.	84;84;84	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	T	84	ENSP00000389142:P84T;ENSP00000321077:P84T;ENSP00000339448:P84T	ENSP00000321077:P84T	P	-	1	0	SIGLEC8	56653204	0.064000	0.20934	0.119000	0.21687	0.582000	0.36321	0.499000	0.22546	1.434000	0.47414	0.508000	0.49915	CCA	SIGLEC8	-	pfam_Ig_V-set,smart_Ig_sub		0.582	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	G	NM_014442		51961392	-1	no_errors	ENST00000321424	ensembl	human	known	70_37	missense	SNP	0.185	T
SIRPA	140885	genome.wustl.edu	37	20	1918151	1918151	+	Silent	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr20:1918151G>A	ENST00000358771.4	+	8	1604	c.1452G>A	c.(1450-1452)caG>caA	p.Q484Q	SIRPA_ENST00000400068.3_Silent_p.Q488Q|SIRPA_ENST00000356025.3_Silent_p.Q484Q	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	484					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCCCCAAGCAGCCGGCCCCCA	0.637																																					GBM(155;1668 1920 5945 42733 48121)												0													78.0	83.0	81.0					20																	1918151		2203	4300	6503	SO:0001819	synonymous_variant	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1452G>A	20.37:g.1918151G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.Q488	ENST00000358771.4	37	c.1464	CCDS13022.1	20																																																																																			SIRPA	-	NULL		0.637	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	G	NM_080792		1918151	+1	no_errors	ENST00000400068	ensembl	human	known	70_37	silent	SNP	0.015	A
SIRT4	23409	genome.wustl.edu	37	12	120741408	120741408	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr12:120741408G>A	ENST00000202967.4	+	2	103	c.44G>A	c.(43-45)cGt>cAt	p.R15H		NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAAAAGGCCGTTGGATCGCA	0.473																																																	0													93.0	98.0	96.0					12																	120741408		2203	4300	6503	SO:0001583	missense	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.44G>A	12.37:g.120741408G>A	ENSP00000202967:p.Arg15His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.R15H	ENST00000202967.4	37	c.44	CCDS9194.1	12	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530876	0.27387	.	.	ENSG00000089163	ENST00000202967	T	0.24350	1.86	4.99	-9.82	0.00484	.	2.391390	0.01051	N	0.004471	T	0.16085	0.0387	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12344	-1.0551	10	0.10636	T	0.68	0.1329	9.5102	0.39071	0.6232:0.0:0.1974:0.1794	.	15	Q9Y6E7	SIRT4_HUMAN	H	15	ENSP00000202967:R15H	ENSP00000202967:R15H	R	+	2	0	SIRT4	119225791	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-3.051000	0.00628	-2.646000	0.00426	-1.887000	0.00540	CGT	SIRT4	-	NULL		0.473	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	G	NM_012240		120741408	+1	no_errors	ENST00000202967	ensembl	human	known	70_37	missense	SNP	0.000	A
SKIDA1	387640	genome.wustl.edu	37	10	21806653	21806653	+	Silent	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr10:21806653G>A	ENST00000449193.2	-	4	2351	c.99C>T	c.(97-99)ttC>ttT	p.F33F	SKIDA1_ENST00000444772.3_Silent_p.F33F|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	33						nucleus (GO:0005634)											GCAGATCTGTGAAGACTTGGG	0.512																																																	0													69.0	69.0	69.0					10																	21806653		2022	4181	6203	SO:0001819	synonymous_variant	387640			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.99C>T	10.37:g.21806653G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.F33	ENST00000449193.2	37	c.99	CCDS44363.1	10																																																																																			SKIDA1	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put		0.512	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	G	NM_207371		21806653	-1	no_errors	ENST00000449193	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC26A3	1811	genome.wustl.edu	37	7	107431574	107431574	+	Silent	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:107431574C>T	ENST00000340010.5	-	5	673	c.489G>A	c.(487-489)tcG>tcA	p.S163S	SLC26A3_ENST00000422236.2_Silent_p.S128S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	163					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAGAATTATTCGAGTTGTTAG	0.493																																																	0													157.0	136.0	143.0					7																	107431574		2203	4300	6503	SO:0001819	synonymous_variant	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.489G>A	7.37:g.107431574C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S163	ENST00000340010.5	37	c.489	CCDS5748.1	7																																																																																			SLC26A3	-	tigrfam_SulP_transpt		0.493	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	C	NM_000111		107431574	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	silent	SNP	0.000	T
SLC6A12	6539	genome.wustl.edu	37	12	318945	318945	+	Missense_Mutation	SNP	C	C	T	rs374785609		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr12:318945C>T	ENST00000428720.1	-	3	951	c.208G>A	c.(208-210)Gga>Aga	p.G70R	SLC6A12_ENST00000536824.1_Missense_Mutation_p.G70R|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G70R|SLC6A12_ENST00000397296.2_Missense_Mutation_p.G70R|SLC6A12_ENST00000359674.4_Missense_Mutation_p.G70R	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	70					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TCACCACCTCCGTTTTTGTAG	0.572																																																	0								C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	143.0	123.0	130.0		208,208,208,208	5.6	1.0	12		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SLC6A12	NM_001122847.2,NM_001122848.2,NM_001206931.1,NM_003044.4	125,125,125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	70/615,70/615,70/615,70/615	318945	1,13005	2203	4300	6503	SO:0001583	missense	6539			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.208G>A	12.37:g.318945C>T	ENSP00000388184:p.Gly70Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.G70R	ENST00000428720.1	37	c.208	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.195919	0.94960	0.0	1.16E-4	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793	D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	D	0.97247	0.9100	H	0.99897	4.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99274	1.0894	10	0.87932	D	0	.	19.1214	0.93365	0.0:1.0:0.0:0.0	.	70	P48065	S6A12_HUMAN	R	70	ENSP00000352702:G70R;ENSP00000380464:G70R;ENSP00000388184:G70R;ENSP00000399136:G70R;ENSP00000444268:G70R;ENSP00000439351:G70R	ENSP00000352702:G70R	G	-	1	0	SLC6A12	189206	1.000000	0.71417	0.977000	0.42913	0.946000	0.59487	7.780000	0.85658	2.610000	0.88304	0.563000	0.77884	GGA	SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.572	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2	C	NM_003044		318945	-1	no_errors	ENST00000359674	ensembl	human	known	70_37	missense	SNP	1.000	T
TBC1D9	23158	genome.wustl.edu	37	4	141590860	141590860	+	Silent	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:141590860G>A	ENST00000442267.2	-	8	1439	c.1365C>T	c.(1363-1365)agC>agT	p.S455S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	455							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGTGGGGACGCTGTTGCCAT	0.577																																																	0													63.0	70.0	67.0					4																	141590860		2108	4216	6324	SO:0001819	synonymous_variant	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1365C>T	4.37:g.141590860G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8U8|D3DNZ1|O94958	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.S455	ENST00000442267.2	37	c.1365	CCDS47136.1	4																																																																																			TBC1D9	-	NULL		0.577	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	G	NM_015130		141590860	-1	no_errors	ENST00000442267	ensembl	human	known	70_37	silent	SNP	0.588	A
TEX13B	56156	genome.wustl.edu	37	X	107224920	107224920	+	Silent	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chrX:107224920C>G	ENST00000302917.1	-	2	530	c.438G>C	c.(436-438)ctG>ctC	p.L146L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	146										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCTTCCATCTCAGCATGTCCC	0.592																																																	0													123.0	94.0	104.0					X																	107224920		2200	4300	6500	SO:0001819	synonymous_variant	56156			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.438G>C	X.37:g.107224920C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYF6	Silent	SNP	NULL	p.L146	ENST00000302917.1	37	c.438	CCDS14534.1	X																																																																																			TEX13B	-	NULL		0.592	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX13B	HGNC	protein_coding	OTTHUMT00000057857.1	C			107224920	-1	no_errors	ENST00000302917	ensembl	human	known	70_37	silent	SNP	0.001	G
TMEM178A	130733	genome.wustl.edu	37	2	39931262	39931262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:39931262C>T	ENST00000281961.2	+	2	498	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	148						integral component of membrane (GO:0016021)											CCACTTTTCTCAGCCCATCCG	0.438																																																	0													112.0	99.0	103.0					2																	39931262		2203	4300	6503	SO:0001587	stop_gained	130733			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.442C>T	2.37:g.39931262C>T	ENSP00000281961:p.Gln148*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWI6|Q8N6N4	Nonsense_Mutation	SNP	NULL	p.Q148*	ENST00000281961.2	37	c.442	CCDS1804.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.062325|6.062325	0.97246|0.97246	.|.	.|.	ENSG00000152154|ENSG00000152154	ENST00000281961|ENST00000378734	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.120297|.	0.64402|.	D|.	0.000020|.	.|T	.|0.73753	.|0.3627	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72360	.|-0.4317	.|3	.|.	.|.	.|.	-16.5549|-16.5549	17.2112|17.2112	0.86930|0.86930	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	148|102	.|.	.|.	Q|S	+|+	1|2	0|0	TMEM178|TMEM178	39784766|39784766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.987000|3.987000	0.56944|0.56944	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	CAG|TCA	TMEM178A	-	NULL		0.438	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM178A	HGNC	protein_coding	OTTHUMT00000250445.2	C	NM_152390		39931262	+1	no_errors	ENST00000281961	ensembl	human	known	70_37	nonsense	SNP	1.000	T
THSD7B	80731	genome.wustl.edu	37	2	138163340	138163340	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr2:138163340C>A	ENST00000409968.1	+	13	2836	c.2658C>A	c.(2656-2658)aaC>aaA	p.N886K	THSD7B_ENST00000272643.3_Missense_Mutation_p.N886K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.N855K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	886	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCTCCACGAACTGTGAAGCCA	0.493																																																	0													58.0	63.0	61.0					2																	138163340		2007	4171	6178	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2658C>A	2.37:g.138163340C>A	ENSP00000387145:p.Asn886Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.N886K	ENST00000409968.1	37	c.2658		2	.	.	.	.	.	.	.	.	.	.	C	8.242	0.807127	0.16467	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60548	0.18;0.18;0.18	5.59	-8.48	0.00935	.	0.514251	0.20329	N	0.094478	T	0.42810	0.1219	L	0.40543	1.245	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.02519	-1.1147	10	0.48119	T	0.1	.	17.0688	0.86567	0.0:0.7108:0.0881:0.2011	.	886;855	Q9C0I4;C9JKN6	THS7B_HUMAN;.	K	886;886;855	ENSP00000387145:N886K;ENSP00000272643:N886K;ENSP00000413841:N855K	ENSP00000272643:N886K	N	+	3	2	THSD7B	137879810	0.001000	0.12720	0.003000	0.11579	0.042000	0.13812	-1.611000	0.02062	-1.630000	0.01545	-0.469000	0.05056	AAC	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.493	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	C	XM_046570.9		138163340	+1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	0.012	A
TMEM98	26022	genome.wustl.edu	37	17	31260324	31260324	+	Splice_Site	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr17:31260324G>A	ENST00000579849.1	+	4	694		c.e4+1		TMEM98_ENST00000578289.1_Splice_Site|TMEM98_ENST00000394642.3_Splice_Site	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AAGATGCCTCGTAAGGCCATG	0.517																																																	0													134.0	121.0	126.0					17																	31260324		2203	4300	6503	SO:0001630	splice_region_variant	26022			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.263+1G>A	17.37:g.31260324G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P631|Q9UFK2	Splice_Site	SNP	-	e2+1	ENST00000579849.1	37	c.263+1	CCDS11274.1	17	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271281	0.23221	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	.	.	.	5.31	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7459	0.62874	0.0:0.1554:0.8446:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM98	28284437	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	9.142000	0.94618	0.860000	0.35481	-0.256000	0.11100	.	TMEM98	-	-		0.517	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM98	HGNC	protein_coding	OTTHUMT00000256372.2	G	NM_015544	Intron	31260324	+1	no_errors	ENST00000394642	ensembl	human	known	70_37	splice_site	SNP	1.000	A
TTLL10	254173	genome.wustl.edu	37	1	1111648	1111648	+	Intron	SNP	G	G	A	rs562279310	byFrequency	TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr1:1111648G>A	ENST00000379290.1	+	3	146				TTLL10_ENST00000379289.1_Intron|TTLL10-AS1_ENST00000379317.1_RNA			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGAGAGGCTGACGCTGTGCA	0.667													G|||	18	0.00359425	0.0023	0.0058	5008	,	,		22024	0.0		0.0109	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	100506376			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.-28+1779G>A	1.37:g.1111648G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	RNA	SNP	-	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			TTLL10-AS1	-	-		0.667	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	HGNC	protein_coding	OTTHUMT00000002421.3	G	NM_153254		1111648	-1	no_errors	ENST00000379317	ensembl	human	known	70_37	rna	SNP	0.857	A
UBXN6	80700	genome.wustl.edu	37	19	4454023	4454023	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:4454023C>T	ENST00000301281.6	-	2	275	c.151G>A	c.(151-153)Gag>Aag	p.E51K	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	51						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						ATCTGTGCCTCATTGGTGGGT	0.667																																																	0													73.0	93.0	86.0					19																	4454023		2203	4299	6502	SO:0001583	missense	80700			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.151G>A	19.37:g.4454023C>T	ENSP00000301281:p.Glu51Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.E51K	ENST00000301281.6	37	c.151	CCDS12129.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.198054	0.94997	.	.	ENSG00000167671	ENST00000301281	T	0.49720	0.77	4.24	4.24	0.50183	.	0.060444	0.64402	D	0.000003	T	0.55162	0.1903	M	0.76574	2.34	0.80722	D	1	P	0.47762	0.9	P	0.45946	0.498	T	0.64761	-0.6331	10	0.62326	D	0.03	-38.1701	15.6441	0.77033	0.0:1.0:0.0:0.0	.	51	Q9BZV1	UBXN6_HUMAN	K	51	ENSP00000301281:E51K	ENSP00000301281:E51K	E	-	1	0	UBXN6	4405023	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	5.130000	0.64745	1.915000	0.55452	0.491000	0.48974	GAG	UBXN6	-	NULL		0.667	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	HGNC	protein_coding	OTTHUMT00000458447.3	C	NM_025241		4454023	-1	no_errors	ENST00000301281	ensembl	human	known	70_37	missense	SNP	1.000	T
VCPIP1	80124	genome.wustl.edu	37	8	67547564	67547564	+	Silent	SNP	G	G	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:67547564G>T	ENST00000310421.4	-	3	3099	c.2841C>A	c.(2839-2841)ggC>ggA	p.G947G		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	947					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAAAGGTTTTGCCAGGCAGAT	0.363																																					NSCLC(179;265 2915 6144 43644)												0													69.0	65.0	66.0					8																	67547564		2203	4300	6503	SO:0001819	synonymous_variant	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2841C>A	8.37:g.67547564G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	pfam_OTU,pfscan_OTU	p.G947	ENST00000310421.4	37	c.2841	CCDS6192.1	8																																																																																			VCPIP1	-	NULL		0.363	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	G			67547564	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	silent	SNP	1.000	T
WDR6	11180	genome.wustl.edu	37	3	49049120	49049120	+	Silent	SNP	G	G	C			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:49049120G>C	ENST00000608424.1	+	2	192	c.153G>C	c.(151-153)cgG>cgC	p.R51R	WDR6_ENST00000395474.3_Silent_p.R81R|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_5'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	51					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGCATCTGCGGATGATAAAGC	0.537																																																	0													264.0	257.0	260.0					3																	49049120		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.153G>C	3.37:g.49049120G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R81	ENST00000608424.1	37	c.243		3																																																																																			WDR6	-	NULL		0.537	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049120	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	0.585	C
ZBBX	79740	genome.wustl.edu	37	3	167086284	167086284	+	Silent	SNP	G	G	A			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr3:167086284G>A	ENST00000392766.2	-	5	487	c.147C>T	c.(145-147)ttC>ttT	p.F49F	ZBBX_ENST00000392764.1_Silent_p.F20F|ZBBX_ENST00000307529.5_Silent_p.F49F|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Silent_p.F49F|ZBBX_ENST00000455345.2_Silent_p.F49F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	49						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGTGGATCGGAATTCTTGCA	0.318																																																	0													153.0	137.0	142.0					3																	167086284		1818	4068	5886	SO:0001819	synonymous_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.147C>T	3.37:g.167086284G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	pfam_Znf_B-box	p.F49	ENST00000392766.2	37	c.147	CCDS3199.2	3																																																																																			ZBBX	-	NULL		0.318	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	G	NM_024687		167086284	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	silent	SNP	0.523	A
ZFHX4	79776	genome.wustl.edu	37	8	77618364	77618364	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr8:77618364C>G	ENST00000521891.2	+	2	2489	c.2041C>G	c.(2041-2043)Cag>Gag	p.Q681E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q681E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q681E|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q681E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	681					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAAGACTGGACAGCCTCACCC	0.502										HNSCC(33;0.089)																																							0													46.0	50.0	48.0					8																	77618364		2068	4248	6316	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2041C>G	8.37:g.77618364C>G	ENSP00000430497:p.Gln681Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q681E	ENST00000521891.2	37	c.2041	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658085	0.29425	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53206	0.65;0.67;0.64;0.63	5.0	5.0	0.66597	.	0.000000	0.42172	U	0.000742	T	0.67192	0.2867	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.61697	0.982;0.99;0.99;0.987	D;D;D;P	0.72982	0.952;0.979;0.979;0.882	T	0.68142	-0.5487	10	0.59425	D	0.04	.	18.85	0.92224	0.0:1.0:0.0:0.0	.	681;681;681;681	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	E	681	ENSP00000430497:Q681E;ENSP00000399605:Q681E;ENSP00000050961:Q681E;ENSP00000430848:Q681E	ENSP00000050961:Q681E	Q	+	1	0	ZFHX4	77780919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.750000	0.94351	0.655000	0.94253	CAG	ZFHX4	-	NULL		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77618364	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF521	25925	genome.wustl.edu	37	18	22805688	22805688	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr18:22805688C>T	ENST00000361524.3	-	4	2342	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.D732N|ZNF521_ENST00000584787.1_Missense_Mutation_p.D512N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	732					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACTTTTGAGTCAAAAACTTCC	0.468			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													70.0	72.0	71.0					18																	22805688		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2194G>A	18.37:g.22805688C>T	ENSP00000354794:p.Asp732Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D732N	ENST00000361524.3	37	c.2194	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092829	0.36952	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.27256	1.68;3.01;1.68	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	N	0.02854	-0.475	0.52501	D	0.999958	D	0.89917	1.0	D	0.80764	0.994	T	0.40701	-0.9549	10	0.15066	T	0.55	-39.6653	20.8794	0.99867	0.0:1.0:0.0:0.0	.	732	Q96K83	ZN521_HUMAN	N	732;766;732	ENSP00000354794:D732N;ENSP00000440768:D766N;ENSP00000382352:D732N	ENSP00000354794:D732N	D	-	1	0	ZNF521	21059686	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAC	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	C	NM_015461		22805688	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF536	9745	genome.wustl.edu	37	19	30935236	30935236	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:30935236C>T	ENST00000355537.3	+	2	914	c.767C>T	c.(766-768)cCc>cTc	p.P256L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	256					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACCCGGTGCCCTCGCCCAAG	0.726																																																	0													6.0	7.0	7.0					19																	30935236		2035	4047	6082	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.767C>T	19.37:g.30935236C>T	ENSP00000347730:p.Pro256Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P256L	ENST00000355537.3	37	c.767	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849744	0.32699	.	.	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.7	4.66	0.58398	.	0.221854	0.48767	N	0.000171	T	0.09774	0.0240	L	0.29908	0.895	0.58432	D	0.999994	B;D	0.54964	0.002;0.969	B;P	0.46208	0.003;0.507	T	0.13737	-1.0498	10	0.41790	T	0.15	-27.596	14.5846	0.68315	0.0:0.9296:0.0:0.0704	.	256;256	A7E228;O15090	.;ZN536_HUMAN	L	256	ENSP00000347730:P256L	ENSP00000347730:P256L	P	+	2	0	ZNF536	35627076	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.787000	0.85759	1.416000	0.47057	0.491000	0.48974	CCC	ZNF536	-	NULL		0.726	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	C	NM_014717		30935236	+1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF774	342132	genome.wustl.edu	37	15	90903469	90903469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr15:90903469G>T	ENST00000354377.3	+	4	592	c.406G>T	c.(406-408)Gag>Tag	p.E136*	ZNF774_ENST00000379090.5_Intron|ZNF774_ENST00000558115.1_3'UTR	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	136					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)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTTTCACAGGAGAGGGATTT	0.478																																																	0													55.0	59.0	58.0					15																	90903469		2199	4298	6497	SO:0001587	stop_gained	342132			BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.406G>T	15.37:g.90903469G>T	ENSP00000346348:p.Glu136*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K020	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E136*	ENST00000354377.3	37	c.406	CCDS32330.1	15	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937337	0.73557	.	.	ENSG00000196391	ENST00000354377	.	.	.	5.24	4.33	0.51752	.	0.265778	0.20256	N	0.095962	.	.	.	.	.	.	0.30665	N	0.754015	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	7.9653	0.30095	0.1849:0.0:0.8151:0.0	.	.	.	.	X	136	.	ENSP00000346348:E136X	E	+	1	0	ZNF774	88704473	0.005000	0.15991	0.075000	0.20258	0.736000	0.42039	1.425000	0.34859	1.193000	0.43086	0.655000	0.94253	GAG	ZNF774	-	NULL		0.478	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF774	HGNC	protein_coding	OTTHUMT00000418048.1	G	NM_001004309		90903469	+1	no_errors	ENST00000354377	ensembl	human	known	70_37	nonsense	SNP	0.500	T
ZNF777	27153	genome.wustl.edu	37	7	149152526	149152526	+	Silent	SNP	C	C	T			TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr7:149152526C>T	ENST00000247930.4	-	2	911	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCAGCTTCCTCTCCACTGCTT	0.597																																																	0													66.0	74.0	71.0					7																	149152526		2189	4293	6482	SO:0001819	synonymous_variant	27153			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.588G>A	7.37:g.149152526C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2R2|Q8N659	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E196	ENST00000247930.4	37	c.588	CCDS43675.1	7																																																																																			ZNF777	-	pfam_DUF3669_Znf		0.597	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	C	NM_015694		149152526	-1	no_errors	ENST00000247930	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF827	152485	genome.wustl.edu	37	4	146806944	146806944	+	Missense_Mutation	SNP	C	C	T	rs368474421		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr4:146806944C>T	ENST00000508784.1	-	4	1860	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	ZNF827_ENST00000379448.4_Missense_Mutation_p.A545T|ZNF827_ENST00000513320.1_Missense_Mutation_p.A195T			Q17R98	ZN827_HUMAN	zinc finger protein 827	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTGTGGTTGGCGGGCCTGTCG	0.557																																																	0								C	THR/ALA	0,4406		0,0,2203	76.0	76.0	76.0		1633	2.7	1.0	4		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF827	NM_178835.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	545/1078	146806944	1,13005	2203	4300	6503	SO:0001583	missense	152485			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1633G>A	4.37:g.146806944C>T	ENSP00000421863:p.Ala545Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A545T	ENST00000508784.1	37	c.1633		4	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733835	0.30684	0.0	1.16E-4	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.06849	3.3;3.25;3.34	5.62	2.66	0.31614	.	0.427648	0.28964	N	0.013568	T	0.03434	0.0099	N	0.08118	0	0.29186	N	0.876187	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.33954	-0.9848	10	0.22109	T	0.4	-7.5685	4.9085	0.13811	0.0:0.4713:0.164:0.3647	.	195;545;545	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	T	545;195;545;544;195	ENSP00000421863:A545T;ENSP00000423130:A195T;ENSP00000368761:A545T	ENSP00000281318:A544T	A	-	1	0	ZNF827	147026394	0.400000	0.25295	1.000000	0.80357	0.994000	0.84299	0.105000	0.15333	1.216000	0.43427	0.561000	0.74099	GCC	ZNF827	-	NULL		0.557	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	HGNC	protein_coding	OTTHUMT00000364654.2	C	NM_178835		146806944	-1	no_errors	ENST00000508784	ensembl	human	known	70_37	missense	SNP	0.988	T
ZNF99	7652	genome.wustl.edu	37	19	22939155	22939155	+	IGR	SNP	T	T	A	rs74170732		TCGA-EA-A50E-01A-21D-A26G-09	TCGA-EA-A50E-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb0dca2-8294-42fe-aec0-02c8ce379e31	4a4cb3a4-1fce-481c-835b-786a236954d2	g.chr19:22939155T>A	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.K989I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTAAAGGCTTTGCCACATTC	0.368																																																	0													50.0	68.0	63.0					19																	22939155		2019	4281	6300	SO:0001628	intergenic_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939155T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	M0R335	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.K989I	ENST00000596209.1	37	c.2966	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	11.81	1.749174	0.30955	.	.	ENSG00000213973	ENST00000397104	T	0.60920	0.15	1.3	0.12	0.14691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69024	0.3065	.	.	.	0.09310	N	1	P	0.38300	0.626	P	0.61397	0.888	T	0.62158	-0.6913	8	0.87932	D	0	.	5.2217	0.15371	0.0:0.1804:0.0:0.8196	.	988	A8MXY4	ZNF99_HUMAN	I	989	ENSP00000380293:K989I	ENSP00000380293:K989I	K	-	2	0	ZNF99	22730995	0.334000	0.24739	0.000000	0.03702	0.024000	0.10985	1.653000	0.37323	-0.261000	0.09405	-0.575000	0.04146	AAA	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	T	XM_065124		22939155	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.215	A
