#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA4	24	genome.wustl.edu	37	1	94466477	94466477	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:94466477C>G	ENST00000370225.3	-	47	6480	c.6394G>C	c.(6394-6396)Gaa>Caa	p.E2132Q	ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000535881.1_Missense_Mutation_p.E251Q|ABCA4_ENST00000536513.1_Missense_Mutation_p.E402Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2132	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCCTCACATTCTTCCATGCTG	0.572																																																	0													130.0	103.0	112.0					1																	94466477		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6394G>C	1.37:g.94466477C>G	ENSP00000359245:p.Glu2132Gln		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.E2132Q	ENST00000370225.3	37	c.6394	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.080738	0.94050	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.99519	-6.07;-6.07;-6.07	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.050069	0.85682	D	0.000000	D	0.99664	0.9875	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.98212	1.0473	10	0.87932	D	0	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	2132	P78363	ABCA4_HUMAN	Q	924;2132;402;251	ENSP00000359245:E2132Q;ENSP00000439707:E402Q;ENSP00000443203:E251Q	ENSP00000359245:E2132Q	E	-	1	0	ABCA4	94239065	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	7.762000	0.85270	2.779000	0.95612	0.655000	0.94253	GAA	ABCA4	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt		0.572	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94466477	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCC1	4363	genome.wustl.edu	37	16	16130348	16130348	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:16130348C>T	ENST00000399410.3	+	7	872	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	ABCC1_ENST00000399408.2_Missense_Mutation_p.R233C|ABCC1_ENST00000346370.5_Missense_Mutation_p.R233C|ABCC1_ENST00000345148.5_Missense_Mutation_p.R233C|ABCC1_ENST00000351154.5_Missense_Mutation_p.R233C|ABCC1_ENST00000349029.5_Missense_Mutation_p.R233C	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	233					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CCGGGGCTACCGCCAGCCCCT	0.577																																																	0													50.0	51.0	51.0					16																	16130348		1906	4127	6033	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.697C>T	16.37:g.16130348C>T	ENSP00000382342:p.Arg233Cys		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.R233C	ENST00000399410.3	37	c.697	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349477	0.61183	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	4.67	3.58	0.41010	.	0.578759	0.16180	N	0.225895	D	0.96911	0.8991	M	0.92077	3.27	0.35594	D	0.807293	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.998;0.99;0.994	P;P;D;D;P;P;P	0.66497	0.855;0.855;0.944;0.924;0.809;0.776;0.888	D	0.99537	1.0962	10	0.87932	D	0	-20.898	11.993	0.53186	0.283:0.717:0.0:0.0	.	233;233;233;233;233;233;233	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	C	233	ENSP00000382342:R233C;ENSP00000382340:R233C;ENSP00000263019:R233C;ENSP00000263017:R233C;ENSP00000263014:R233C;ENSP00000263016:R233C	ENSP00000263014:R233C	R	+	1	0	ABCC1	16037849	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	1.869000	0.39519	2.298000	0.77334	0.655000	0.94253	CGC	ABCC1	-	tigrfam_Multidrug-R_assoc		0.577	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	C	NM_004996		16130348	+1	no_errors	ENST00000399408	ensembl	human	known	70_37	missense	SNP	0.991	T
ABHD10	55347	genome.wustl.edu	37	3	111710503	111710503	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:111710503G>A	ENST00000273359.3	+	5	883	c.856G>A	c.(856-858)Gac>Aac	p.D286N	ABHD10_ENST00000534857.1_Missense_Mutation_p.D129N	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	286					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						GGAAAAAGCAGACATTCAACT	0.383																																																	0													108.0	93.0	98.0					3																	111710503		2203	4300	6503	SO:0001583	missense	55347			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.856G>A	3.37:g.111710503G>A	ENSP00000273359:p.Asp286Asn		B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Peptidase_S9	p.D286N	ENST00000273359.3	37	c.856	CCDS2963.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.371753	0.95923	.	.	ENSG00000144827	ENST00000534857;ENST00000273359	T;T	0.39787	1.06;1.06	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.82823	2.61	0.80722	D	1	D	0.63880	0.993	P	0.53401	0.725	T	0.65709	-0.6102	10	0.54805	T	0.06	-2.2363	18.8889	0.92391	0.0:0.0:1.0:0.0	.	286	Q9NUJ1	ABHDA_HUMAN	N	129;286	ENSP00000442932:D129N;ENSP00000273359:D286N	ENSP00000273359:D286N	D	+	1	0	ABHD10	113193193	1.000000	0.71417	0.964000	0.40570	0.921000	0.55340	9.447000	0.97595	2.771000	0.95319	0.591000	0.81541	GAC	ABHD10	-	NULL		0.383	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD10	HGNC	protein_coding	OTTHUMT00000354326.1	G	NM_018394		111710503	+1	no_errors	ENST00000273359	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS3	9508	genome.wustl.edu	37	4	73156717	73156717	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:73156717C>T	ENST00000286657.4	-	20	2822	c.2786G>A	c.(2785-2787)cGc>cAc	p.R929H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	929	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCGTACAGTGCGAAGCTGATA	0.547																																					NSCLC(168;1941 2048 2918 13048 43078)												0													165.0	135.0	145.0					4																	73156717		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2786G>A	4.37:g.73156717C>T	ENSP00000286657:p.Arg929His		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R929H	ENST00000286657.4	37	c.2786	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047571	0.75846	.	.	ENSG00000156140	ENST00000286657	T	0.80824	-1.42	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.94719	0.8296	H	0.99379	4.54	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.97140	0.9824	10	0.87932	D	0	.	19.2087	0.93746	0.0:1.0:0.0:0.0	.	929	O15072	ATS3_HUMAN	H	929	ENSP00000286657:R929H	ENSP00000286657:R929H	R	-	2	0	ADAMTS3	73375581	1.000000	0.71417	0.326000	0.25389	0.117000	0.20001	7.734000	0.84928	2.533000	0.85409	0.557000	0.71058	CGC	ADAMTS3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.547	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	C			73156717	-1	no_errors	ENST00000286657	ensembl	human	known	70_37	missense	SNP	1.000	T
AFF3	3899	genome.wustl.edu	37	2	100217938	100217938	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:100217938C>G	ENST00000409236.2	-	12	1442	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	AFF3_ENST00000356421.2_Missense_Mutation_p.E469Q|AFF3_ENST00000317233.4_Missense_Mutation_p.E444Q|AFF3_ENST00000409579.1_Missense_Mutation_p.E469Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	444	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCCTCACTCTCGCTGGAGCTG	0.642																																																	0													18.0	19.0	19.0					2																	100217938		2202	4300	6502	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1330G>C	2.37:g.100217938C>G	ENSP00000387207:p.Glu444Gln		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E469Q	ENST00000409236.2	37	c.1405	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.098128	0.94197	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000022	T	0.78997	0.4372	L	0.56769	1.78	0.53688	D	0.999974	D;D;D	0.76494	0.999;0.996;0.997	D;P;P	0.68765	0.96;0.898;0.835	T	0.78109	-0.2332	10	0.41790	T	0.15	.	18.6719	0.91514	0.0:1.0:0.0:0.0	.	597;444;469	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	Q	444;469;469;444;444;597;469	ENSP00000317421:E444Q;ENSP00000348793:E469Q;ENSP00000386834:E469Q;ENSP00000387207:E444Q	ENSP00000317421:E444Q	E	-	1	0	AFF3	99584370	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.996000	0.76263	2.413000	0.81919	0.579000	0.79373	GAG	AFF3	-	pfam_TF_AF4/FMR2		0.642	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100217938	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	G
AFF4	27125	genome.wustl.edu	37	5	132232824	132232824	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:132232824G>C	ENST00000265343.5	-	11	1877	c.1498C>G	c.(1498-1500)Caa>Gaa	p.Q500E	AFF4_ENST00000378595.3_Missense_Mutation_p.Q500E	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	500					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q500*(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTAGCCTTGAGATGATGGG	0.488																																					Ovarian(126;889 1733 2942 10745 11605)												1	Substitution - Nonsense(1)	skin(1)											164.0	159.0	161.0					5																	132232824		2203	4300	6503	SO:0001583	missense	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1498C>G	5.37:g.132232824G>C	ENSP00000265343:p.Gln500Glu		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.Q500E	ENST00000265343.5	37	c.1498	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	G	9.020	0.984541	0.18889	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.62788	-0.0;-0.0	5.31	5.31	0.75309	.	0.161021	0.56097	D	0.000031	T	0.75087	0.3802	M	0.71036	2.16	0.42599	D	0.993274	D;B	0.58268	0.982;0.447	D;B	0.70227	0.968;0.147	T	0.69847	-0.5034	10	0.02654	T	1	-11.0488	19.3538	0.94402	0.0:0.0:1.0:0.0	.	500;500	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	E	500	ENSP00000265343:Q500E;ENSP00000367858:Q500E	ENSP00000265343:Q500E	Q	-	1	0	AFF4	132260723	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.526000	0.73799	2.635000	0.89317	0.563000	0.77884	CAA	AFF4	-	pfam_TF_AF4/FMR2		0.488	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	G	NM_014423		132232824	-1	no_errors	ENST00000265343	ensembl	human	known	70_37	missense	SNP	1.000	C
AGPS	8540	genome.wustl.edu	37	2	178301609	178301609	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:178301609C>T	ENST00000264167.4	+	4	705	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	187					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ATTTAGAGCTCATGGTAAGTT	0.279																																																	0													90.0	97.0	95.0					2																	178301609		2201	4294	6495	SO:0001583	missense	8540			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.559C>T	2.37:g.178301609C>T	ENSP00000264167:p.His187Tyr		A5D8U9|Q2TU35	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.H187Y	ENST00000264167.4	37	c.559	CCDS2275.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065314	0.76187	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.82167	-1.58	5.32	4.45	0.53987	FAD-binding, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91198	0.4989	10	0.37606	T	0.19	.	14.2505	0.66016	0.0:0.9275:0.0:0.0725	.	187	O00116	ADAS_HUMAN	Y	187;57	ENSP00000264167:H187Y	ENSP00000264167:H187Y	H	+	1	0	AGPS	178009855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.658000	0.74407	1.364000	0.46038	0.655000	0.94253	CAT	AGPS	-	superfamily_FAD-bd_2		0.279	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPS	HGNC	protein_coding	OTTHUMT00000255730.2	C			178301609	+1	no_errors	ENST00000264167	ensembl	human	known	70_37	missense	SNP	1.000	T
AIMP2	7965	genome.wustl.edu	37	7	6057525	6057525	+	Silent	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:6057525G>T	ENST00000223029.3	+	3	542	c.423G>T	c.(421-423)ctG>ctT	p.L141L	AIMP2_ENST00000395236.2_Silent_p.L72L|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_Silent_p.L63L	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	141	Interaction with PARK2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGCACAGGCTGCTCTGTGAGC	0.557																																																	0													79.0	55.0	63.0					7																	6057525		2203	4300	6503	SO:0001819	synonymous_variant	7965			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.423G>T	7.37:g.6057525G>T			Q75MR1|Q96CZ5|Q9P1L2	Silent	SNP	superfamily_Glutathione-S-Trfase_C-like	p.L141	ENST00000223029.3	37	c.423	CCDS5344.1	7																																																																																			AIMP2	-	NULL		0.557	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	HGNC	protein_coding	OTTHUMT00000242834.2	G	NM_006303		6057525	+1	no_errors	ENST00000223029	ensembl	human	known	70_37	silent	SNP	0.994	T
AKR1D1	6718	genome.wustl.edu	37	7	137801416	137801416	+	3'UTR	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:137801416G>A	ENST00000242375.3	+	0	1031				AKR1D1_ENST00000411726.2_3'UTR|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1						androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	TGACTGCAGGGAGTTCCTGAA	0.458																																																	0													109.0	109.0	109.0					7																	137801416		2203	4300	6503	SO:0001624	3_prime_UTR_variant	6718			Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.*8G>A	7.37:g.137801416G>A			A1L4P6|A8K060|B4DPN3|B4DPN8	RNA	SNP	-	NULL	ENST00000242375.3	37	NULL	CCDS5846.1	7																																																																																			AKR1D1	-	-		0.458	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	G	NM_005989		137801416	+1	no_errors	ENST00000468877	ensembl	human	known	70_37	rna	SNP	0.000	A
ALMS1	7840	genome.wustl.edu	37	2	73675141	73675141	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:73675141C>T	ENST00000264448.6	+	8	1595	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	ALMS1_ENST00000377715.1_Missense_Mutation_p.S495L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S453L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	495					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AACTTGAAGTCAGGCATCACT	0.358																																																	0													138.0	121.0	126.0					2																	73675141		1905	4122	6027	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1484C>T	2.37:g.73675141C>T	ENSP00000264448:p.Ser495Leu		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.S495L	ENST00000264448.6	37	c.1484	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053241	0.36181	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.18016	3.13;3.13;2.24	3.99	3.99	0.46301	.	1.339750	0.05640	N	0.583148	T	0.12092	0.0294	N	0.08118	0	0.18873	N	0.999989	B;B	0.30281	0.275;0.275	B;B	0.30782	0.12;0.12	T	0.15549	-1.0433	10	0.59425	D	0.04	.	11.8925	0.52637	0.0:1.0:0.0:0.0	.	453;495	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	L	453;495;495	ENSP00000386627:S453L;ENSP00000264448:S495L;ENSP00000366944:S495L	ENSP00000264448:S495L	S	+	2	0	ALMS1	73528649	0.028000	0.19301	0.288000	0.24862	0.599000	0.36880	0.955000	0.29188	2.515000	0.84797	0.655000	0.94253	TCA	ALMS1	-	NULL		0.358	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	C	NM_015120		73675141	+1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.397	T
ANKRD12	23253	genome.wustl.edu	37	18	9255242	9255242	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr18:9255242G>A	ENST00000262126.4	+	9	2217	c.1977G>A	c.(1975-1977)gaG>gaA	p.E659E	ANKRD12_ENST00000400020.3_Silent_p.E636E|ANKRD12_ENST00000383440.2_Silent_p.E636E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	659						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						agcataaagagagggaaaaag	0.299																																																	0													41.0	45.0	44.0					18																	9255242		2194	4286	6480	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1977G>A	18.37:g.9255242G>A			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E659	ENST00000262126.4	37	c.1977	CCDS11843.1	18																																																																																			ANKRD12	-	NULL		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255242	+1	no_errors	ENST00000262126	ensembl	human	known	70_37	silent	SNP	0.990	A
APOBR	55911	genome.wustl.edu	37	16	28506478	28506478	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:28506478G>A	ENST00000431282.1	+	2	126	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	APOBR_ENST00000328423.5_Missense_Mutation_p.R39Q|CLN3_ENST00000569430.1_Intron|APOBR_ENST00000564831.1_Missense_Mutation_p.R39Q|CLN3_ENST00000567160.1_5'UTR|CLN3_ENST00000360019.2_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	39					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						ACTGTAGAGCGGGAGGCGCAG	0.597																																																	0													13.0	16.0	15.0					16																	28506478		1949	4150	6099	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.116G>A	16.37:g.28506478G>A	ENSP00000416094:p.Arg39Gln		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.R39Q	ENST00000431282.1	37	c.116		16	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311595	0.40895	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.58940	0.3;0.3	5.54	0.143	0.14820	.	.	.	.	.	T	0.42200	0.1192	L	0.32530	0.975	0.09310	N	1	P	0.45569	0.861	B	0.40659	0.336	T	0.30475	-0.9977	9	0.87932	D	0	-5.5428	5.1773	0.15141	0.2371:0.2782:0.4847:0.0	.	39	Q9NS13	.	Q	39	ENSP00000327669:R39Q;ENSP00000416094:R39Q	ENSP00000327669:R39Q	R	+	2	0	APOBR	28413979	0.065000	0.20965	0.059000	0.19551	0.067000	0.16453	-0.077000	0.11394	-0.160000	0.11002	-0.273000	0.10243	CGG	APOBR	-	NULL		0.597	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		G	NM_182804		28506478	+1	no_errors	ENST00000564831	ensembl	human	known	70_37	missense	SNP	0.033	A
ASAP1	50807	genome.wustl.edu	37	8	131073096	131073096	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr8:131073096T>C	ENST00000518721.1	-	28	3148	c.2921A>G	c.(2920-2922)aAa>aGa	p.K974R	ASAP1_ENST00000357668.1_Missense_Mutation_p.K974R	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	974	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GAGTTGGGGTTTGGGTGGCAG	0.582																																																	0													86.0	96.0	93.0					8																	131073096		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2921A>G	8.37:g.131073096T>C	ENSP00000429900:p.Lys974Arg		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.K974R	ENST00000518721.1	37	c.2921	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920294	0.73098	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.05925	3.37;3.37	5.62	4.48	0.54585	.	0.271829	0.41001	D	0.000966	T	0.18882	0.0453	M	0.65975	2.015	0.58432	D	0.999994	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.78314	0.98;0.98;0.991	T	0.03807	-1.1002	10	0.21014	T	0.42	.	10.4797	0.44687	0.0:0.0753:0.0:0.9247	.	974;974;977	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	R	977;974;974	ENSP00000350297:K974R;ENSP00000429900:K974R	ENSP00000344591:K977R	K	-	2	0	ASAP1	131142278	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	7.571000	0.82399	0.978000	0.38470	0.459000	0.35465	AAA	ASAP1	-	prints_p67phox		0.582	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	T	NM_018482		131073096	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	missense	SNP	1.000	C
ASIC2	40	genome.wustl.edu	37	17	31438962	31438962	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:31438962C>T	ENST00000359872.6	-	2	1440	c.679G>A	c.(679-681)Gag>Aag	p.E227K	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Missense_Mutation_p.E278K	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	227					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.E227*(1)|p.E278*(1)								Amiloride(DB00594)	GGCAGGTACTCATCCTGCTGA	0.587																																																	2	Substitution - Nonsense(2)	lung(2)											161.0	136.0	144.0					17																	31438962		2203	4300	6503	SO:0001583	missense	40			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.679G>A	17.37:g.31438962C>T	ENSP00000352934:p.Glu227Lys		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.E278K	ENST00000359872.6	37	c.832	CCDS42296.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.629823	0.96671	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.68624	-0.34;-0.34	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.84687	0.5527	M	0.88570	2.965	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	D	0.85256	0.1047	10	0.59425	D	0.04	-23.9831	16.0549	0.80794	0.0:1.0:0.0:0.0	.	227;278	Q16515;E9PBX2	ACCN1_HUMAN;.	K	278;227;33	ENSP00000225823:E278K;ENSP00000352934:E227K	ENSP00000225823:E278K	E	-	1	0	ACCN1	28463075	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.818000	0.86416	0.285000	0.22329	-0.388000	0.06559	GAG	ASIC2	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.587	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	C	NM_183377, NM_001094		31438962	-1	no_errors	ENST00000225823	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM210B	116151	genome.wustl.edu	37	20	54945266	54945266	+	IGR	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr20:54945266G>A	ENST00000371384.3	+	0	3046				AURKA_ENST00000395909.4_Missense_Mutation_p.S387L|AURKA_ENST00000347343.2_Missense_Mutation_p.S387L|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000312783.6_Missense_Mutation_p.S387L|AURKA_ENST00000371356.2_Missense_Mutation_p.S387L|AURKA_ENST00000395914.1_Missense_Mutation_p.S387L|AURKA_ENST00000395911.1_Missense_Mutation_p.S387L|AURKA_ENST00000395913.3_Missense_Mutation_p.S387L|AURKA_ENST00000395915.3_Missense_Mutation_p.S387L	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)		p.S387L(1)									TGGTTTTGATGAATTTGCTGT	0.473																																																	1	Substitution - Missense(1)	cervix(1)											206.0	179.0	188.0					20																	54945266		2203	4300	6503	SO:0001628	intergenic_variant	6790			AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"""hypothetical protein LOC116151"""		"""chromosome 20 open reading frame 108"""	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945266G>A			B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S387L	ENST00000371384.3	37	c.1160	CCDS13450.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079175	0.76528	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000006	T	0.48642	0.1511	N	0.11845	0.185	0.58432	D	0.999997	B;P;P	0.49635	0.047;0.926;0.722	B;B;B	0.35607	0.026;0.206;0.206	T	0.60037	-0.7341	10	0.59425	D	0.04	-7.4678	19.2213	0.93797	0.0:0.0:1.0:0.0	.	319;387;387	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	L	387	ENSP00000379245:S387L;ENSP00000379250:S387L;ENSP00000216911:S387L;ENSP00000379251:S387L;ENSP00000321591:S387L;ENSP00000360407:S387L;ENSP00000379249:S387L;ENSP00000379247:S387L	ENSP00000321591:S387L	S	-	2	0	AURKA	54378673	1.000000	0.71417	0.159000	0.22649	0.960000	0.62799	8.397000	0.90193	2.615000	0.88500	0.650000	0.86243	TCA	AURKA	-	NULL		0.473	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079800.2	G	NM_080821		54945266	-1	no_errors	ENST00000312783	ensembl	human	known	70_37	missense	SNP	0.975	A
BMI1	648	genome.wustl.edu	37	10	22616899	22616899	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr10:22616899G>C	ENST00000376663.3	+	6	842	c.337G>C	c.(337-339)Gat>Cat	p.D113H	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.D256H	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	113					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CTCTAATGAAGATAGAGGAGA	0.303																																																	0													86.0	94.0	92.0					10																	22616899		2202	4294	6496	SO:0001583	missense	648			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.337G>C	10.37:g.22616899G>C	ENSP00000365851:p.Asp113His		Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D113H	ENST00000376663.3	37	c.337	CCDS7138.1	10	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544668	0.86022	.	.	ENSG00000168283	ENST00000417470;ENST00000376663;ENST00000442508	T;T	0.34275	1.37;1.84	6.02	6.02	0.97574	.	0.042575	0.85682	D	0.000000	T	0.56731	0.2005	M	0.67953	2.075	0.80722	D	1	P;B	0.50443	0.935;0.295	P;B	0.57009	0.811;0.184	T	0.51818	-0.8657	10	0.51188	T	0.08	-13.1382	20.1511	0.98086	0.0:0.0:1.0:0.0	.	113;113	Q5U0M5;P35226	.;BMI1_HUMAN	H	113	ENSP00000365851:D113H;ENSP00000397912:D113H	ENSP00000365851:D113H	D	+	1	0	BMI1	22656905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.432000	0.97498	2.865000	0.98341	0.655000	0.94253	GAT	BMI1	-	NULL		0.303	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMI1	HGNC	protein_coding	OTTHUMT00000047176.1	G	NM_005180		22616899	+1	no_errors	ENST00000376663	ensembl	human	known	70_37	missense	SNP	1.000	C
BMPR2	659	genome.wustl.edu	37	2	203395559	203395559	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:203395559G>T	ENST00000374580.4	+	8	1549	c.1010G>T	c.(1009-1011)aGa>aTa	p.R337I	BMPR2_ENST00000374574.2_Missense_Mutation_p.R337I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TTAAACAGCAGAAATGTCCTA	0.373																																																	0													76.0	78.0	77.0					2																	203395559		2203	4300	6503	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1010G>T	2.37:g.203395559G>T	ENSP00000363708:p.Arg337Ile		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R337I	ENST00000374580.4	37	c.1010	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135906	0.77662	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.93906	-3.31;-3.31	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	M	0.91561	3.22	0.80722	D	1	B;B	0.28082	0.111;0.2	B;B	0.30495	0.061;0.116	D	0.94096	0.7357	10	0.87932	D	0	.	18.0144	0.89235	0.0:0.0:1.0:0.0	.	337;337	Q13161;Q13873	.;BMPR2_HUMAN	I	337	ENSP00000363708:R337I;ENSP00000363702:R337I	ENSP00000363702:R337I	R	+	2	0	BMPR2	203103804	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.803000	0.99136	2.692000	0.91855	0.591000	0.81541	AGA	BMPR2	-	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		0.373	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	G	NM_001204		203395559	+1	no_errors	ENST00000374580	ensembl	human	known	70_37	missense	SNP	1.000	T
BOD1L1	259282	genome.wustl.edu	37	4	13606503	13606503	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:13606503C>G	ENST00000040738.5	-	10	2156	c.2021G>C	c.(2020-2022)aGa>aCa	p.R674T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	674	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTTACATCTCTTGTGTCAGT	0.393																																																	0													240.0	249.0	246.0					4																	13606503		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2021G>C	4.37:g.13606503C>G	ENSP00000040738:p.Arg674Thr		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.R674T	ENST00000040738.5	37	c.2021	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099264	0.37048	.	.	ENSG00000038219	ENST00000040738	T	0.08807	3.05	5.71	2.07	0.26955	.	0.291295	0.24657	N	0.036677	T	0.07413	0.0187	N	0.24115	0.695	0.09310	N	1	P	0.50272	0.933	P	0.46479	0.518	T	0.27297	-1.0078	10	0.37606	T	0.19	-10.2	9.981	0.41813	0.0:0.6126:0.0:0.3874	.	674	Q8NFC6	BOD1L_HUMAN	T	674	ENSP00000040738:R674T	ENSP00000040738:R674T	R	-	2	0	BOD1L	13215601	0.003000	0.15002	0.512000	0.27736	0.642000	0.38348	-0.081000	0.11321	0.781000	0.33589	-0.253000	0.11424	AGA	BOD1L1	-	NULL		0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13606503	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.026	G
C11orf30	56946	genome.wustl.edu	37	11	76255554	76255554	+	Silent	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:76255554C>G	ENST00000529032.1	+	18	2961	c.2961C>G	c.(2959-2961)ctC>ctG	p.L987L	C11orf30_ENST00000533248.1_Silent_p.L896L|C11orf30_ENST00000334736.3_Silent_p.L987L|C11orf30_ENST00000524490.1_Silent_p.L889L|C11orf30_ENST00000525919.1_Silent_p.L988L|C11orf30_ENST00000524767.1_Silent_p.L1002L|C11orf30_ENST00000525038.1_Silent_p.L988L|C11orf30_ENST00000343878.3_Silent_p.L987L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	987	Gln-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGACCAGCTCCAGCACAAAC	0.542																																																	0													106.0	107.0	107.0					11																	76255554		2200	4292	6492	SO:0001819	synonymous_variant	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2961C>G	11.37:g.76255554C>G			B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	pfam_ENT_N,pfscan_ENT_N	p.L987	ENST00000529032.1	37	c.2961	CCDS8244.1	11																																																																																			C11orf30	-	NULL		0.542	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	C	NM_020193		76255554	+1	no_errors	ENST00000334736	ensembl	human	known	70_37	silent	SNP	1.000	G
CFAP54	144535	genome.wustl.edu	37	12	97180502	97180502	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:97180502C>T	ENST00000524981.4	+	62	8528	c.8505C>T	c.(8503-8505)ctC>ctT	p.L2835L				Q96N23	CL055_HUMAN		0																	ATACACTTCTCACATCCCTTT	0.343																																																	0																																										SO:0001819	synonymous_variant	144535																														ENST00000524981.4:c.8505C>T	12.37:g.97180502C>T				Silent	SNP	superfamily_Fibronectin_type3	p.L2835	ENST00000524981.4	37	c.8505		12																																																																																			C12orf55	-	NULL		0.343	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97180502	+1	no_errors	ENST00000524981	ensembl	human	novel	70_37	silent	SNP	0.974	T
C5orf22	55322	genome.wustl.edu	37	5	31534505	31534505	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:31534505G>C	ENST00000325366.9	+	2	335	c.208G>C	c.(208-210)Gat>Cat	p.D70H	DROSHA_ENST00000511367.2_5'Flank|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_5'Flank|C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	70										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CACCGTGTTTGATAAGGAAAC	0.358																																																	0													141.0	132.0	135.0					5																	31534505		2203	4300	6503	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.208G>C	5.37:g.31534505G>C	ENSP00000326879:p.Asp70His		Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	superfamily_ICAT	p.D70H	ENST00000325366.9	37	c.208	CCDS3895.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532567	0.85812	.	.	ENSG00000082213	ENST00000325366;ENST00000507818	T;T	0.46819	0.86;0.86	5.48	5.48	0.80851	.	0.099857	0.64402	D	0.000002	T	0.73125	0.3547	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76814	-0.2820	10	0.72032	D	0.01	-15.6311	19.3532	0.94398	0.0:0.0:1.0:0.0	.	70	Q49AR2	CE022_HUMAN	H	70	ENSP00000326879:D70H;ENSP00000430860:D70H	ENSP00000326879:D70H	D	+	1	0	C5orf22	31570262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.869000	0.69613	2.559000	0.86315	0.655000	0.94253	GAT	C5orf22	-	NULL		0.358	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf22	HGNC	protein_coding	OTTHUMT00000253726.2	G	NM_018356		31534505	+1	no_errors	ENST00000325366	ensembl	human	known	70_37	missense	SNP	1.000	C
CA10	56934	genome.wustl.edu	37	17	50235158	50235158	+	5'UTR	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:50235158C>T	ENST00000285273.4	-	0	1100				CA10_ENST00000340813.6_5'UTR|CA10_ENST00000570565.1_Intron|CA10_ENST00000442502.2_5'UTR|CA10_ENST00000451037.2_5'UTR	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CTCTGATTCTCATTCCAAGTG	0.547																																																	0													106.0	99.0	101.0					17																	50235158		2203	4300	6503	SO:0001623	5_prime_UTR_variant	56934			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.-12G>A	17.37:g.50235158C>T			B2R7J0|B4DGL6	RNA	SNP	-	NULL	ENST00000285273.4	37	NULL	CCDS32684.1	17																																																																																			CA10	-	-		0.547	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	C	NM_020178		50235158	-1	no_errors	ENST00000573294	ensembl	human	known	70_37	rna	SNP	1.000	T
CACNG7	59284	genome.wustl.edu	37	19	54445319	54445319	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:54445319C>T	ENST00000391767.1	+	6	812	c.600C>T	c.(598-600)ttC>ttT	p.F200F	CACNG7_ENST00000222212.2_Silent_p.F200F			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	200				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	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)		TGTACCTGTTCACCAAGCGCT	0.677																																																	0													53.0	43.0	46.0					19																	54445319		2203	4300	6503	SO:0001819	synonymous_variant	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.600C>T	19.37:g.54445319C>T			Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu	p.F200	ENST00000391767.1	37	c.600	CCDS12868.1	19																																																																																			CACNG7	-	NULL		0.677	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	HGNC	protein_coding	OTTHUMT00000139240.2	C			54445319	+1	no_errors	ENST00000222212	ensembl	human	known	70_37	silent	SNP	1.000	T
CD1D	912	genome.wustl.edu	37	1	158151385	158151385	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:158151385C>T	ENST00000368171.3	+	3	701	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	68					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CGTCCGCTCTCTGAAGCCTTG	0.617																																																	0													78.0	86.0	83.0					1																	158151385		2203	4300	6503	SO:0001819	synonymous_variant	912			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.202C>T	1.37:g.158151385C>T			D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.L68	ENST00000368171.3	37	c.202	CCDS1173.1	1																																																																																			CD1D	-	superfamily_MHC_I/II-like_Ag-recog		0.617	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	C	NM_001766		158151385	+1	no_errors	ENST00000368171	ensembl	human	known	70_37	silent	SNP	0.025	T
CD99	4267	genome.wustl.edu	37	X	2651454	2651454	+	Intron	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:2651454G>A	ENST00000381192.3	+	9	657				CD99_ENST00000381184.1_3'UTR|CD99_ENST00000381187.3_Intron|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GGAGCGTCCTGACCGTAATCG	0.488																																																	0													10.0	10.0	10.0					X																	2651454		873	1984	2857	SO:0001627	intron_variant	4267			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.476-4787G>A	X.37:g.2651454G>A			A6NIW1|O00518|Q6ICV7	RNA	SNP	-	NULL	ENST00000381192.3	37	NULL	CCDS14119.1	X																																																																																			CD99	-	-		0.488	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	G	NM_001122898		2651454	+1	no_errors	ENST00000482405	ensembl	human	known	70_37	rna	SNP	0.002	A
CECR2	27443	genome.wustl.edu	37	22	18028884	18028884	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr22:18028884A>G	ENST00000400585.2	+	17	3853	c.3415A>G	c.(3415-3417)Aac>Gac	p.N1139D	CECR2_ENST00000400573.5_Missense_Mutation_p.N1281D|CECR2_ENST00000262608.8_Missense_Mutation_p.N1282D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1323					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGACAACCATAACGCAGCTAC	0.507																																																	0													79.0	82.0	81.0					22																	18028884		1923	4132	6055	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3415A>G	22.37:g.18028884A>G	ENSP00000383428:p.Asn1139Asp		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.N1281D	ENST00000400585.2	37	c.3841		22	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075922	0.55646	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.34472	1.48;1.48;1.36	4.68	4.68	0.58851	.	0.000000	0.52532	D	0.000080	T	0.49864	0.1582	M	0.67953	2.075	0.46167	D	0.998908	D;D;D	0.67145	0.996;0.991;0.996	P;P;P	0.54759	0.76;0.629;0.76	T	0.55897	-0.8068	10	0.87932	D	0	-14.455	13.0027	0.58685	1.0:0.0:0.0:0.0	.	1323;1139;1281	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	D	1139;1281;1282	ENSP00000383428:N1139D;ENSP00000383417:N1281D;ENSP00000262608:N1282D	ENSP00000262608:N1282D	N	+	1	0	CECR2	16408884	1.000000	0.71417	0.995000	0.50966	0.392000	0.30506	7.344000	0.79328	1.880000	0.54463	0.454000	0.30748	AAC	CECR2	-	NULL		0.507	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	A	NM_031413		18028884	+1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	1.000	G
CELA3A	10136	genome.wustl.edu	37	1	22329579	22329579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:22329579C>T	ENST00000290122.3	+	2	146	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	CELA3A_ENST00000374663.1_Nonsense_Mutation_p.Q43*|RN7SL768P_ENST00000584415.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	43	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGCCCTGGCAGGTAAGAGC	0.597																																																	0													50.0	72.0	65.0					1																	22329579		2167	4291	6458	SO:0001587	stop_gained	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.127C>T	1.37:g.22329579C>T	ENSP00000290122:p.Gln43*		B1AQ53|Q9BRW4	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q43*	ENST00000290122.3	37	c.127	CCDS220.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802900	0.90623	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	.	.	.	3.47	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-39.782	10.6777	0.45796	0.0:1.0:0.0:0.0	.	.	.	.	X	43;43;59	.	ENSP00000290122:Q43X	Q	+	1	0	CELA3A	22202166	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.991000	0.76232	1.934000	0.56057	0.400000	0.26472	CAG	CELA3A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.597	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	C	NM_005747		22329579	+1	no_errors	ENST00000290122	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CEP89	84902	genome.wustl.edu	37	19	33370085	33370085	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:33370085G>A	ENST00000305768.5	-	19	2423	c.2335C>T	c.(2335-2337)Cat>Tat	p.H779Y	CTD-2085J24.4_ENST00000586628.2_lincRNA	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	779					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GTGGGGGCATGAGACTTCAGG	0.627																																																	0													74.0	69.0	70.0					19																	33370085		2203	4300	6503	SO:0001583	missense	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2335C>T	19.37:g.33370085G>A	ENSP00000306105:p.His779Tyr		B9EGA6|Q8N5J8	Missense_Mutation	SNP	NULL	p.H779Y	ENST00000305768.5	37	c.2335	CCDS32987.1	19	.	.	.	.	.	.	.	.	.	.	G	0.232	-1.020128	0.02078	.	.	ENSG00000121289	ENST00000305768	T	0.29917	1.55	4.99	2.46	0.29980	.	0.823573	0.10428	N	0.675857	T	0.11793	0.0287	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.35624	-0.9781	10	0.02654	T	1	0.1234	5.0445	0.14477	0.3432:0.0:0.6568:0.0	.	779	Q96ST8	CEP89_HUMAN	Y	779	ENSP00000306105:H779Y	ENSP00000306105:H779Y	H	-	1	0	CEP89	38061925	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.467000	0.35321	1.229000	0.43630	0.462000	0.41574	CAT	CEP89	-	NULL		0.627	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP89	HGNC	protein_coding	OTTHUMT00000451300.2	G	NM_032816		33370085	-1	no_errors	ENST00000305768	ensembl	human	known	70_37	missense	SNP	0.001	A
CNTLN	54875	genome.wustl.edu	37	9	17273770	17273770	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:17273770G>C	ENST00000380647.3	+	6	973	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q	CNTLN_ENST00000380641.4_Missense_Mutation_p.E297Q|CNTLN_ENST00000262360.5_Missense_Mutation_p.E297Q|CNTLN_ENST00000425824.1_Missense_Mutation_p.E297Q			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	297					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAAAGAAGTTGAAGTATCACA	0.308																																																	0													99.0	100.0	100.0					9																	17273770		1824	4075	5899	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.889G>C	9.37:g.17273770G>C	ENSP00000370021:p.Glu297Gln		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E297Q	ENST00000380647.3	37	c.889	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398583	0.42512	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10763	2.84;2.84;3.21;2.84	4.48	3.57	0.40892	.	.	.	.	.	T	0.22627	0.0546	M	0.62723	1.935	0.25382	N	0.988606	P;P;D	0.63880	0.539;0.539;0.993	B;B;P	0.59424	0.2;0.2;0.857	T	0.04752	-1.0929	9	0.44086	T	0.13	.	7.8172	0.29267	0.0912:0.1655:0.7434:0.0	.	297;297;297	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	Q	297	ENSP00000370021:E297Q;ENSP00000392798:E297Q;ENSP00000262360:E297Q;ENSP00000370015:E297Q	ENSP00000262360:E297Q	E	+	1	0	CNTLN	17263770	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.802000	0.55553	0.981000	0.38548	0.305000	0.20034	GAA	CNTLN	-	NULL		0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	G	NM_017738		17273770	+1	no_errors	ENST00000380647	ensembl	human	known	70_37	missense	SNP	1.000	C
COX6A1	1337	genome.wustl.edu	37	12	120875972	120875972	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:120875972C>T	ENST00000229379.2	+	1	80	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	AL021546.6_ENST00000551806.1_5'Flank	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	15					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGCTGGGTCGGTCCCGCCC	0.667																																																	0													22.0	23.0	23.0					12																	120875972		2202	4300	6502	SO:0001583	missense	1337			X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.43C>T	12.37:g.120875972C>T	ENSP00000229379:p.Arg15Trp		B2R500|O43714|Q32Q37	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,pirsf_Cyt_c_oxidase_su6a	p.R15W	ENST00000229379.2	37	c.43	CCDS9197.1	12	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693697	0.68386	.	.	ENSG00000111775	ENST00000229379	.	.	.	4.75	3.87	0.44632	.	0.450029	0.24611	N	0.037057	T	0.39784	0.1091	L	0.33245	0.995	0.09310	N	1	D	0.65815	0.995	P	0.58077	0.832	T	0.11591	-1.0581	9	0.48119	T	0.1	-4.4212	9.0912	0.36612	0.0:0.9004:0.0:0.0996	.	15	P12074	CX6A1_HUMAN	W	15	.	ENSP00000229379:R15W	R	+	1	2	COX6A1	119360355	0.469000	0.25846	0.009000	0.14445	0.005000	0.04900	0.833000	0.27504	1.365000	0.46057	0.655000	0.94253	CGG	COX6A1	-	pirsf_Cyt_c_oxidase_su6a		0.667	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX6A1	HGNC	protein_coding	OTTHUMT00000108984.3	C	NM_004373		120875972	+1	no_errors	ENST00000229379	ensembl	human	known	70_37	missense	SNP	0.045	T
CSMD1	64478	genome.wustl.edu	37	8	3263717	3263717	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr8:3263717G>A	ENST00000520002.1	-	16	2656	c.2101C>T	c.(2101-2103)Cct>Tct	p.P701S	CSMD1_ENST00000539096.1_Missense_Mutation_p.P700S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P701S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P700S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P701S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P700S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P701S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	701	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGAATGCCAGGATCATGGCAC	0.383																																																	0													40.0	39.0	39.0					8																	3263717		1848	4087	5935	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2101C>T	8.37:g.3263717G>A	ENSP00000430733:p.Pro701Ser		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P701S	ENST00000520002.1	37	c.2101		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.78|18.78	3.697015|3.697015	0.68386|0.68386	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	D;D;D;D;D|.	0.84516|.	-1.86;-1.86;-1.86;-1.86;-1.86|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91324|0.91324	0.7264|0.7264	H|H	0.98849|0.98849	4.35|4.35	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.94720|0.94720	0.7900|0.7900	10|5	0.87932|.	D|.	0|.	.|.	19.2979|19.2979	0.94131|0.94131	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	701;701|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	S|F	701;701;563;700;700;700|180	ENSP00000383047:P701S;ENSP00000430733:P701S;ENSP00000441462:P700S;ENSP00000446243:P700S;ENSP00000441675:P700S|.	ENSP00000320445:P563S|.	P|S	-|-	1|2	0|0	CSMD1|CSMD1	3251124|3251124	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.131000|0.131000	0.20780|0.20780	9.604000|9.604000	0.98317|0.98317	2.534000|2.534000	0.85438|0.85438	0.655000|0.655000	0.94253|0.94253	CCT|TCC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3263717	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	A
CSMD1	64478	genome.wustl.edu	37	8	3267035	3267035	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr8:3267035C>G	ENST00000520002.1	-	14	2212	c.1657G>C	c.(1657-1659)Gaa>Caa	p.E553Q	CSMD1_ENST00000539096.1_Missense_Mutation_p.E552Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.E553Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.E552Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.E553Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.E552Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E553Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	553	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCGGGCATTCAAAGGTGAGT	0.527																																																	0													41.0	41.0	41.0					8																	3267035		1892	4123	6015	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1657G>C	8.37:g.3267035C>G	ENSP00000430733:p.Glu553Gln		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.E553Q	ENST00000520002.1	37	c.1657		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.784549|2.784549	0.49997|0.49997	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.65364|.	-0.15;-0.15;-0.15;-0.15;-0.15|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.203020|.	0.37095|.	N|.	0.002258|.	T|.	0.63331|.	0.2502|.	L|L	0.42686|0.42686	1.345|1.345	0.34501|0.34501	D|D	0.706047|0.706047	D|.	0.69078|.	0.997|.	D|.	0.80764|.	0.994|.	T|.	0.68398|.	-0.5419|.	10|.	0.46703|.	T|.	0.11|.	.|.	18.8659|18.8659	0.92292|0.92292	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	553|.	E5RIG2|.	.|.	Q|S	553;553;415;552;552;552|32	ENSP00000383047:E553Q;ENSP00000430733:E553Q;ENSP00000441462:E552Q;ENSP00000446243:E552Q;ENSP00000441675:E552Q|.	ENSP00000320445:E415Q|.	E|X	-|-	1|2	0|2	CSMD1|CSMD1	3254443|3254443	1.000000|1.000000	0.71417|0.71417	0.152000|0.152000	0.22495|0.22495	0.495000|0.495000	0.33615|0.33615	4.701000|4.701000	0.61810|0.61810	2.443000|2.443000	0.82685|0.82685	0.573000|0.573000	0.79308|0.79308	GAA|TGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3267035	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.997	G
DAGLA	747	genome.wustl.edu	37	11	61504725	61504725	+	Silent	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:61504725C>G	ENST00000257215.5	+	14	1559	c.1443C>G	c.(1441-1443)ctC>ctG	p.L481L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	481					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGCCATCCTCTCCTTCCTTC	0.642																																																	0													153.0	162.0	159.0					11																	61504725		2202	4299	6501	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1443C>G	11.37:g.61504725C>G			A7E233|Q6WQJ0	Silent	SNP	pfam_Lipase_3	p.L481	ENST00000257215.5	37	c.1443	CCDS31578.1	11																																																																																			DAGLA	-	pfam_Lipase_3		0.642	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	C	NM_006133		61504725	+1	no_errors	ENST00000257215	ensembl	human	known	70_37	silent	SNP	1.000	G
DAPK2	23604	genome.wustl.edu	37	15	64217033	64217033	+	Silent	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:64217033G>C	ENST00000457488.1	-	9	870	c.840C>G	c.(838-840)ctC>ctG	p.L280L	DAPK2_ENST00000261891.3_Silent_p.L280L|DAPK2_ENST00000558069.1_Silent_p.L280L	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	280	Calmodulin-binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGGGGTGTCTGAGAGCCTCTT	0.562																																																	0													141.0	111.0	121.0					15																	64217033		2203	4300	6503	SO:0001819	synonymous_variant	23604			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.840C>G	15.37:g.64217033G>C			E9JGM7|O75892|Q24JS1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L280	ENST00000457488.1	37	c.840	CCDS10188.1	15																																																																																			DAPK2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.562	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	G	NM_014326		64217033	-1	no_errors	ENST00000261891	ensembl	human	known	70_37	silent	SNP	0.529	C
DCC	1630	genome.wustl.edu	37	18	50705389	50705389	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr18:50705389G>A	ENST00000442544.2	+	9	2092	c.1476G>A	c.(1474-1476)ctG>ctA	p.L492L	DCC_ENST00000581580.1_Silent_p.L147L|DCC_ENST00000412726.1_Silent_p.L340L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	492	Fibronectin type-III 1. {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)		TGGGAAACCTGAAGCCAGAAG	0.483																																																	0													98.0	88.0	91.0					18																	50705389		2203	4300	6503	SO:0001819	synonymous_variant	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.1476G>A	18.37:g.50705389G>A				Silent	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.L492	ENST00000442544.2	37	c.1476	CCDS11952.1	18																																																																																			DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	G	NM_005215		50705389	+1	no_errors	ENST00000442544	ensembl	human	known	70_37	silent	SNP	1.000	A
DCDC1	341019	genome.wustl.edu	37	11	30937082	30937082	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:30937082C>T	ENST00000597505.1	-	25	3628	c.3629G>A	c.(3628-3630)cGc>cAc	p.R1210H	DCDC1_ENST00000339794.5_Missense_Mutation_p.R289H|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTGTATCCAGCGCTGATGACT	0.468																																																	0													137.0	128.0	131.0					11																	30937082		2202	4299	6501	SO:0001583	missense	100506627			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3629G>A	11.37:g.30937082C>T	ENSP00000472625:p.Arg1210His		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.R289H	ENST00000597505.1	37	c.866		11	.	.	.	.	.	.	.	.	.	.	C	3.549	-0.091999	0.07053	.	.	ENSG00000170959	ENST00000339794	T	0.46819	0.86	5.66	-7.26	0.01466	Ricin B-related lectin (1);Ricin B lectin (2);	1.372920	0.04778	N	0.429213	T	0.27027	0.0662	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.17930	-1.0353	10	0.33141	T	0.24	6.4394	7.9804	0.30181	0.1965:0.1911:0.0:0.6124	.	289	Q6ZRR9	DCDC5_HUMAN	H	289	ENSP00000341700:R289H	ENSP00000341700:R289H	R	-	2	0	DCDC5	30893658	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-3.352000	0.00501	-1.354000	0.02188	-0.897000	0.02905	CGC	DCDC5	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.468	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC5	HGNC	protein_coding	OTTHUMT00000463167.1	C	NM_181807		30937082	-1	no_errors	ENST00000339794	ensembl	human	known	70_37	missense	SNP	0.000	T
DDR2	4921	genome.wustl.edu	37	1	162740113	162740113	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:162740113G>A	ENST00000367922.3	+	13	1753	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	DDR2_ENST00000367921.3_Missense_Mutation_p.D439N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	439					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GATGCTGGATGATGAAATGAC	0.478																																					NSCLC(161;314 2006 8283 19651 23192)												0													222.0	200.0	207.0					1																	162740113		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1315G>A	1.37:g.162740113G>A	ENSP00000356899:p.Asp439Asn		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D439N	ENST00000367922.3	37	c.1315	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.512363	0.96402	.	.	ENSG00000162733	ENST00000367922;ENST00000367921;ENST00000458105	T;T;T	0.75260	-0.92;-0.92;-0.92	5.79	5.79	0.91817	.	0.044796	0.85682	D	0.000000	T	0.71264	0.3319	M	0.67953	2.075	0.38270	D	0.942131	P	0.49358	0.923	P	0.47470	0.548	T	0.68629	-0.5358	9	0.23891	T	0.37	.	18.6038	0.91259	0.0:0.0:1.0:0.0	.	439	Q16832	DDR2_HUMAN	N	439;439;49	ENSP00000356899:D439N;ENSP00000356898:D439N;ENSP00000417030:D49N	ENSP00000356898:D439N	D	+	1	0	DDR2	161006737	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.338000	0.96553	2.733000	0.93635	0.655000	0.94253	GAT	DDR2	-	NULL		0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	G	NM_006182		162740113	+1	no_errors	ENST00000367921	ensembl	human	known	70_37	missense	SNP	1.000	A
DEPDC5	9681	genome.wustl.edu	37	22	32193604	32193604	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr22:32193604G>C	ENST00000382112.3	+	12	856	c.786G>C	c.(784-786)gaG>gaC	p.E262D	DEPDC5_ENST00000535622.1_Missense_Mutation_p.E262D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E262D|DEPDC5_ENST00000400246.1_Missense_Mutation_p.E262D|DEPDC5_ENST00000400248.2_Missense_Mutation_p.E262D|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E262D|DEPDC5_ENST00000400242.3_Missense_Mutation_p.E262D|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E262D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E262D|DEPDC5_ENST00000536766.1_Missense_Mutation_p.E234D	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	262					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGCAGAATGAGAGAAGAGAAG	0.418																																																	0													95.0	93.0	94.0					22																	32193604		1888	4116	6004	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.786G>C	22.37:g.32193604G>C	ENSP00000371546:p.Glu262Asp		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.E262D	ENST00000382112.3	37	c.786	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502947	0.64298	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.51574	1.24;1.27;0.7;1.63;1.64;1.61;1.24;1.64;1.61;1.64	5.05	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.77313	2.365	0.80722	D	1	D;D;D;B;D;P	0.76494	0.999;0.998;0.997;0.437;0.999;0.778	D;D;D;P;D;P	0.83275	0.996;0.99;0.992;0.803;0.994;0.498	T	0.63102	-0.6712	10	0.35671	T	0.21	.	8.3207	0.32128	0.2487:0.0:0.7513:0.0	.	262;234;262;262;262;262	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	D	262;234;262;262;262;262;262;262;262;262;262	ENSP00000440210:E262D;ENSP00000441358:E234D;ENSP00000383101:E262D;ENSP00000266091:E262D;ENSP00000383108:E262D;ENSP00000383105:E262D;ENSP00000371539:E262D;ENSP00000371546:E262D;ENSP00000371545:E262D;ENSP00000383107:E262D	ENSP00000266091:E262D	E	+	3	2	DEPDC5	30523604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.858000	0.48356	1.150000	0.42419	0.542000	0.68232	GAG	DEPDC5	-	pfam_DUF3608		0.418	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	G	NM_014662		32193604	+1	no_errors	ENST00000266091	ensembl	human	known	70_37	missense	SNP	1.000	C
DGKB	1607	genome.wustl.edu	37	7	14216524	14216524	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:14216524C>T	ENST00000403951.2	-	25	2666	c.2247G>A	c.(2245-2247)agG>agA	p.R749R	DGKB_ENST00000402815.1_Splice_Site_p.R748R|DGKB_ENST00000407950.1_Splice_Site_p.R741R|DGKB_ENST00000406247.3_Splice_Site_p.R749R|DGKB_ENST00000258767.5_Splice_Site_p.R749R|DGKB_ENST00000444700.2_Splice_Site_p.R730R|DGKB_ENST00000399322.3_Splice_Site_p.R749R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	749					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						ACTTGCTCGTCCTGGGGGAAA	0.408																																																	0													152.0	141.0	144.0					7																	14216524		1875	4117	5992	SO:0001630	splice_region_variant	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2247-1G>A	7.37:g.14216524C>T			A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R749	ENST00000403951.2	37	c.2247	CCDS47547.1	7																																																																																			DGKB	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.408	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	C	NM_004080	Silent	14216524	-1	no_errors	ENST00000258767	ensembl	human	known	70_37	silent	SNP	1.000	T
DHX30	22907	genome.wustl.edu	37	3	47884655	47884655	+	Silent	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:47884655C>G	ENST00000445061.1	+	9	1256	c.849C>G	c.(847-849)ctC>ctG	p.L283L	DHX30_ENST00000446256.2_Silent_p.L244L|DHX30_ENST00000457607.1_Silent_p.L311L|DHX30_ENST00000348968.4_Silent_p.L255L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	283						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCACCCTGCTCTGGCCCTGCC	0.542																																																	0													141.0	128.0	132.0					3																	47884655		2203	4300	6503	SO:0001819	synonymous_variant	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.849C>G	3.37:g.47884655C>G			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L283	ENST00000445061.1	37	c.849	CCDS2759.1	3																																																																																			DHX30	-	NULL		0.542	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	C	NM_138615		47884655	+1	no_errors	ENST00000445061	ensembl	human	known	70_37	silent	SNP	1.000	G
DICER1	23405	genome.wustl.edu	37	14	95570075	95570075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:95570075G>A	ENST00000526495.1	-	23	3949	c.3658C>T	c.(3658-3660)Cag>Tag	p.Q1220*	DICER1_ENST00000527414.1_Nonsense_Mutation_p.Q1220*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.Q1220*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.Q1220*|DICER1_ENST00000556045.1_Nonsense_Mutation_p.Q118*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.Q1220*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1220					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TATAAATTCTGAATGGAATAT	0.403			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													140.0	139.0	139.0					14																	95570075		2203	4300	6503	SO:0001587	stop_gained	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3658C>T	14.37:g.95570075G>A	ENSP00000437256:p.Gln1220*		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Nonsense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.Q1220*	ENST00000526495.1	37	c.3658	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	G	44	10.673513	0.99447	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	.	.	.	5.42	5.42	0.78866	.	0.384140	0.29515	N	0.011940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-9.7665	19.2116	0.93757	0.0:0.0:1.0:0.0	.	.	.	.	X	1220;1220;1220;1220;118;1220	.	ENSP00000343745:Q1220X	Q	-	1	0	DICER1	94639828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.925000	0.92832	2.542000	0.85734	0.561000	0.74099	CAG	DICER1	-	NULL		0.403	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	G			95570075	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DIP2B	57609	genome.wustl.edu	37	12	51065095	51065095	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:51065095C>T	ENST00000301180.5	+	5	588	c.554C>T	c.(553-555)tCt>tTt	p.S185F		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	185	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCGTCCACTTCTTCATCCGCA	0.522																																																	0													146.0	124.0	132.0					12																	51065095		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.554C>T	12.37:g.51065095C>T	ENSP00000301180:p.Ser185Phe		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S185F	ENST00000301180.5	37	c.554	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956028	0.92726	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.26810	1.71	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.978;0.998	P;D	0.66351	0.836;0.943	T	0.52711	-0.8539	10	0.87932	D	0	-17.5762	19.1286	0.93396	0.0:1.0:0.0:0.0	.	185;195	Q9P265;E9PHD6	DIP2B_HUMAN;.	F	195;185	ENSP00000301180:S185F	ENSP00000301180:S185F	S	+	2	0	DIP2B	49351362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.317000	0.79018	2.758000	0.94735	0.586000	0.80456	TCT	DIP2B	-	NULL		0.522	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	C	NM_173602		51065095	+1	no_errors	ENST00000301180	ensembl	human	known	70_37	missense	SNP	1.000	T
MIR15A	406948	genome.wustl.edu	37	13	50619281	50619281	+	IGR	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr13:50619281G>A								KCNRG (24223 upstream) : MIR16-1 (3827 downstream)																							GTAGTCCTCTGAGTAAGCTCC	0.338																																																	0																																										SO:0001628	intergenic_variant	8847																															13.37:g.50619281G>A				RNA	SNP	-	NULL		37	NULL		13																																																																																			DLEU2	-	-	0	0.338					DLEU2	HGNC			G			50619281	-1	no_errors	ENST00000416253	ensembl	human	known	70_37	rna	SNP	0.168	A
DIS3	22894	genome.wustl.edu	37	13	73345042	73345042	+	Splice_Site	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr13:73345042C>T	ENST00000377767.4	-	13	1855	c.1755G>A	c.(1753-1755)aaG>aaA	p.K585K	DIS3_ENST00000377780.4_Splice_Site_p.K555K|DIS3_ENST00000545453.1_Splice_Site_p.K423K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	585					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TGAAACGAACCTTTGAATTAA	0.269										Multiple Myeloma(4;0.011)																																							0													51.0	51.0	51.0					13																	73345042		2201	4298	6499	SO:0001630	splice_region_variant	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1755+1G>A	13.37:g.73345042C>T			A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R	p.K585	ENST00000377767.4	37	c.1755	CCDS9447.1	13																																																																																			DIS3	-	pfam_RNase_II/R,smart_RNase_II/R		0.269	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	C	NM_014953	Silent	73345042	-1	no_errors	ENST00000377767	ensembl	human	known	70_37	silent	SNP	1.000	T
DNAH2	146754	genome.wustl.edu	37	17	7679425	7679425	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:7679425C>A	ENST00000572933.1	+	31	6365	c.4905C>A	c.(4903-4905)ttC>ttA	p.F1635L	DNAH2_ENST00000389173.2_Missense_Mutation_p.F1635L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1635	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAGGAAGTTCCTCAACAAGA	0.627																																																	0													66.0	61.0	63.0					17																	7679425		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4905C>A	17.37:g.7679425C>A	ENSP00000458355:p.Phe1635Leu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.F1635L	ENST00000572933.1	37	c.4905	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	8.586	0.883525	0.17467	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22134	1.97	5.76	1.05	0.20165	.	0.438076	0.24003	N	0.042454	T	0.06462	0.0166	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29640	-1.0005	10	0.09338	T	0.73	.	5.2204	0.15366	0.0:0.397:0.2318:0.3712	.	1635	Q9P225	DYH2_HUMAN	L	1635	ENSP00000373825:F1635L	ENSP00000353818:F1635L	F	+	3	2	DNAH2	7620150	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	1.389000	0.34453	0.239000	0.21243	-0.136000	0.14681	TTC	DNAH2	-	NULL		0.627	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	C	NM_020877		7679425	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH5	1767	genome.wustl.edu	37	5	13717460	13717460	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:13717460G>A	ENST00000265104.4	-	73	12773	c.12669C>T	c.(12667-12669)ttC>ttT	p.F4223F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4223	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTTTTGGATGAACTGCACAG	0.547									Kartagener syndrome																																								0													73.0	60.0	65.0					5																	13717460		2203	4300	6503	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12669C>T	5.37:g.13717460G>A			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F4223	ENST00000265104.4	37	c.12669	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy_dom		0.547	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13717460	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAJB14	79982	genome.wustl.edu	37	4	100844268	100844268	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:100844268G>A	ENST00000442697.2	-	3	534	c.380C>T	c.(379-381)gCt>gTt	p.A127V	DNAJB14_ENST00000471738.1_5'Flank	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	127	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		CTTTCTATAAGCTTTTTTCAA	0.323																																																	0													78.0	73.0	75.0					4																	100844268		2202	4298	6500	SO:0001583	missense	79982			BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.380C>T	4.37:g.100844268G>A	ENSP00000404381:p.Ala127Val		Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.A127V	ENST00000442697.2	37	c.380	CCDS34035.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.514633	0.96402	.	.	ENSG00000164031	ENST00000442697	T	0.42131	0.98	5.64	5.64	0.86602	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.994	T	0.74959	-0.3486	10	0.87932	D	0	.	19.7015	0.96057	0.0:0.0:1.0:0.0	.	127;42	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	V	127	ENSP00000404381:A127V	ENSP00000404381:A127V	A	-	2	0	DNAJB14	101063291	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.666000	0.98612	2.653000	0.90120	0.313000	0.20887	GCT	DNAJB14	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.323	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB14	HGNC	protein_coding	OTTHUMT00000253696.2	G	NM_001031723.2		100844268	-1	no_errors	ENST00000442697	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAJC13	23317	genome.wustl.edu	37	3	132172164	132172164	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:132172164G>C	ENST00000260818.6	+	7	808	c.560G>C	c.(559-561)aGa>aCa	p.R187T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	187					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCAGAGCAAAGAGAAGAGATT	0.343																																																	0													42.0	43.0	43.0					3																	132172164		2202	4300	6502	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.560G>C	3.37:g.132172164G>C	ENSP00000260818:p.Arg187Thr		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.R187T	ENST00000260818.6	37	c.560	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341975	0.61073	.	.	ENSG00000138246	ENST00000260818	T	0.41065	1.01	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	L	0.47716	1.5	0.80722	D	1	B;P	0.39480	0.155;0.675	B;B	0.37144	0.051;0.242	T	0.22277	-1.0221	10	0.41790	T	0.15	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	187;187	A7E2Y5;O75165	.;DJC13_HUMAN	T	187	ENSP00000260818:R187T	ENSP00000260818:R187T	R	+	2	0	DNAJC13	133654854	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.350000	0.79385	2.748000	0.94277	0.650000	0.86243	AGA	DNAJC13	-	NULL		0.343	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	G	NM_015268		132172164	+1	no_errors	ENST00000260818	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAJC16	23341	genome.wustl.edu	37	1	15855639	15855639	+	Missense_Mutation	SNP	G	G	C	rs147329664		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:15855639G>C	ENST00000375847.3	+	2	203	c.39G>C	c.(37-39)ttG>ttC	p.L13F	DNAJC16_ENST00000375849.1_Missense_Mutation_p.L13F|CASP9_ENST00000469637.1_5'Flank|DNAJC16_ENST00000375838.1_Missense_Mutation_p.L13F	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	13					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGCAGTTCTTGATAGTTCTGG	0.448																																																	0													167.0	156.0	160.0					1																	15855639		2203	4300	6503	SO:0001583	missense	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.39G>C	1.37:g.15855639G>C	ENSP00000365007:p.Leu13Phe		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L13F	ENST00000375847.3	37	c.39	CCDS30606.1	1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535817	0.64972	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.74106	-0.79;-0.81;-0.79	5.41	5.41	0.78517	Heat shock protein DnaJ, N-terminal (1);	0.071541	0.56097	D	0.000024	T	0.77948	0.4207	L	0.41356	1.27	0.29770	N	0.834851	D;D	0.69078	0.994;0.997	P;P	0.59643	0.808;0.861	T	0.72510	-0.4271	10	0.23891	T	0.37	-18.1811	16.704	0.85367	0.0:0.0:1.0:0.0	.	13;13	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	F	13	ENSP00000365007:L13F;ENSP00000364998:L13F;ENSP00000365009:L13F	ENSP00000364998:L13F	L	+	3	2	DNAJC16	15728226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.152000	0.58111	2.546000	0.85860	0.563000	0.77884	TTG	DNAJC16	-	superfamily_DnaJ_N		0.448	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	G	NM_015291		15855639	+1	no_errors	ENST00000375847	ensembl	human	known	70_37	missense	SNP	1.000	C
DPYSL5	56896	genome.wustl.edu	37	2	27165544	27165544	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:27165544G>A	ENST00000288699.6	+	11	1524	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E456K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	456					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGTGCGCCGAGGGCACCGG	0.597											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													66.0	62.0	63.0					2																	27165544		2203	4300	6503	SO:0001583	missense	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1366G>A	2.37:g.27165544G>A	ENSP00000288699:p.Glu456Lys	792	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.E456K	ENST00000288699.6	37	c.1366	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547510	0.65311	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.85013	-1.93;-1.93	6.08	6.08	0.98989	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	L	0.45137	1.4	0.51012	D	0.999906	B	0.15141	0.012	B	0.12156	0.007	T	0.74297	-0.3711	10	0.22109	T	0.4	-37.3033	19.4349	0.94788	0.0:0.0:1.0:0.0	.	456	Q9BPU6	DPYL5_HUMAN	K	456	ENSP00000288699:E456K;ENSP00000385549:E456K	ENSP00000288699:E456K	E	+	1	0	DPYSL5	27019048	1.000000	0.71417	0.971000	0.41717	0.973000	0.67179	6.431000	0.73395	2.894000	0.99253	0.655000	0.94253	GAG	DPYSL5	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.597	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	G	NM_020134		27165544	+1	no_errors	ENST00000288699	ensembl	human	known	70_37	missense	SNP	0.999	A
EBF2	64641	genome.wustl.edu	37	8	25897612	25897612	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr8:25897612G>A	ENST00000520164.1	-	5	951	c.414C>T	c.(412-414)atC>atT	p.I138I	EBF2_ENST00000408929.3_5'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	138					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCTCGTAAGCGATGGGCTGTG	0.537																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													118.0	118.0	118.0					8																	25897612		1947	4147	6094	SO:0001819	synonymous_variant	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.414C>T	8.37:g.25897612G>A			A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.I138	ENST00000520164.1	37	c.414	CCDS43726.1	8																																																																																			EBF2	-	NULL		0.537	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	G	NM_022659		25897612	-1	no_errors	ENST00000520164	ensembl	human	known	70_37	silent	SNP	0.980	A
EFTUD1	79631	genome.wustl.edu	37	15	82443950	82443950	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:82443950G>A	ENST00000268206.7	-	18	3013	c.2845C>T	c.(2845-2847)Cca>Tca	p.P949S	EFTUD1_ENST00000359445.3_Missense_Mutation_p.P898S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	949					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCAGTGAGTGGAGATTCTCCT	0.483																																																	0													153.0	153.0	153.0					15																	82443950		2041	4195	6236	SO:0001583	missense	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2845C>T	15.37:g.82443950G>A	ENSP00000268206:p.Pro949Ser		A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.P949S	ENST00000268206.7	37	c.2845	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	G	0	-2.707806	0.00096	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.22539	1.95;1.95	6.16	-12.3	0.00002	Ribosomal protein S5 domain 2-type fold (1);	2.342010	0.02043	N	0.049404	T	0.05777	0.0151	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.26292	-1.0107	10	0.08837	T	0.75	-4.2605	11.5473	0.50700	0.1266:0.4993:0.3125:0.0616	.	898;949	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	S	949;898	ENSP00000268206:P949S;ENSP00000352418:P898S	ENSP00000268206:P949S	P	-	1	0	EFTUD1	80231005	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-1.924000	0.01565	-4.666000	0.00037	-2.023000	0.00429	CCA	EFTUD1	-	superfamily_Ribosomal_S5_D2-typ_fold		0.483	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1	G	NM_024580		82443950	-1	no_errors	ENST00000268206	ensembl	human	known	70_37	missense	SNP	0.000	A
EHD3	30845	genome.wustl.edu	37	2	31483537	31483537	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:31483537G>A	ENST00000322054.5	+	4	949	c.664G>A	c.(664-666)Gac>Aac	p.D222N	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	222	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAACAAAGCTGACCAGATCGA	0.552																																																	0													101.0	90.0	94.0					2																	31483537		2203	4300	6503	SO:0001583	missense	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.664G>A	2.37:g.31483537G>A	ENSP00000327116:p.Asp222Asn		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.D222N	ENST00000322054.5	37	c.664	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.279084	0.95489	.	.	ENSG00000013016	ENST00000322054	D	0.99732	-6.57	5.15	5.15	0.70609	.	0.086699	0.85682	D	0.000000	D	0.99375	0.9780	M	0.87758	2.905	0.80722	D	1	P	0.41450	0.75	B	0.40134	0.32	D	0.99910	1.1197	10	0.87932	D	0	-39.3112	18.813	0.92065	0.0:0.0:1.0:0.0	.	222	Q9NZN3	EHD3_HUMAN	N	222	ENSP00000327116:D222N	ENSP00000327116:D222N	D	+	1	0	EHD3	31337041	1.000000	0.71417	0.938000	0.37757	0.962000	0.63368	9.648000	0.98483	2.667000	0.90743	0.561000	0.74099	GAC	EHD3	-	NULL		0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	G	NM_014600		31483537	+1	no_errors	ENST00000322054	ensembl	human	known	70_37	missense	SNP	1.000	A
ELL3	80237	genome.wustl.edu	37	15	44066430	44066430	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:44066430C>T	ENST00000319359.3	-	9	1629	c.988G>A	c.(988-990)Gag>Aag	p.E330K	SERF2_ENST00000381359.1_5'Flank|ELL3_ENST00000497465.1_5'UTR|RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	330					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCTCCCAGCTCTATGAACCTT	0.512																																																	0													109.0	98.0	102.0					15																	44066430		2198	4298	6496	SO:0001583	missense	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.988G>A	15.37:g.44066430C>T	ENSP00000320346:p.Glu330Lys		B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.E330K	ENST00000319359.3	37	c.988	CCDS10102.1	15	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764360	0.49574	.	.	ENSG00000128886	ENST00000319359	T	0.24151	1.87	5.92	4.99	0.66335	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.098546	0.45126	D	0.000397	T	0.25419	0.0618	L	0.49571	1.57	0.35995	D	0.836953	P;P;P	0.40398	0.555;0.555;0.716	B;B;B	0.39068	0.179;0.179;0.289	T	0.26360	-1.0105	10	0.56958	D	0.05	-20.0854	12.2197	0.54428	0.0:0.7042:0.2958:0.0	.	330;330;284	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	K	330	ENSP00000320346:E330K	ENSP00000320346:E330K	E	-	1	0	ELL3	41853722	0.859000	0.29813	0.982000	0.44146	0.965000	0.64279	1.407000	0.34657	2.809000	0.96659	0.557000	0.71058	GAG	ELL3	-	pfam_Occludin_RNApol2_elong_fac_ELL		0.512	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	HGNC	protein_coding	OTTHUMT00000133236.2	C	NM_025165		44066430	-1	no_errors	ENST00000319359	ensembl	human	known	70_37	missense	SNP	0.921	T
EME2	197342	genome.wustl.edu	37	16	1825361	1825361	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:1825361G>A	ENST00000568449.1	+	5	636	c.615G>A	c.(613-615)ccG>ccA	p.P205P	MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_Silent_p.P249P	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	205					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CAGAGAGCCCGAAGGTGGCCG	0.687								Direct reversal of damage;Homologous recombination																																									0													51.0	60.0	57.0					16																	1825361		2197	4300	6497	SO:0001819	synonymous_variant	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.615G>A	16.37:g.1825361G>A			Q8TEP2|Q96RY3	Silent	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.P249	ENST00000568449.1	37	c.747	CCDS58404.1	16																																																																																			EME2	-	pfam_ERCC4_domain,smart_ERCC4_domain		0.687	EME2-001	NOVEL	basic|CCDS	protein_coding	EME2	HGNC	protein_coding	OTTHUMT00000433185.2	G	NM_001010865		1825361	+1	no_errors	ENST00000307394	ensembl	human	known	70_37	silent	SNP	0.000	A
EML5	161436	genome.wustl.edu	37	14	89181361	89181361	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:89181361G>A	ENST00000380664.5	-	9	1365	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	EML5_ENST00000554922.1_Missense_Mutation_p.H456Y|EML5_ENST00000352093.5_Missense_Mutation_p.H456Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	456						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGTCCAGATGAGTGATGAAA	0.388																																																	0													92.0	89.0	90.0					14																	89181361		1866	4106	5972	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1366C>T	14.37:g.89181361G>A	ENSP00000370039:p.His456Tyr		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H456Y	ENST00000380664.5	37	c.1366	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437129	0.83885	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.17213	2.29;2.29;5.04	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	H	0.94222	3.51	0.58432	D	0.999994	D	0.71674	0.998	D	0.81914	0.995	T	0.69866	-0.5029	10	0.72032	D	0.01	-10.6612	17.705	0.88306	0.0:0.0:1.0:0.0	.	456	Q05BV3	EMAL5_HUMAN	Y	456	ENSP00000451998:H456Y;ENSP00000298315:H456Y;ENSP00000370039:H456Y	ENSP00000298315:H456Y	H	-	1	0	EML5	88251114	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	9.263000	0.95617	2.416000	0.81992	0.467000	0.42956	CAT	EML5	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.388	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	G			89181361	-1	no_errors	ENST00000554922	ensembl	human	known	70_37	missense	SNP	1.000	A
ENPP3	5169	genome.wustl.edu	37	6	132004303	132004303	+	Splice_Site	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:132004303G>T	ENST00000414305.1	+	13	1448		c.e13+1		ENPP3_ENST00000358229.5_Splice_Site|ENPP3_ENST00000357639.3_Splice_Site			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3						immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCTGACCATGGTATGCTTTTA	0.348																																																	0													160.0	147.0	152.0					6																	132004303		2203	4300	6503	SO:0001630	splice_region_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1120+1G>T	6.37:g.132004303G>T			Q5JTL3	Splice_Site	SNP	-	e12+1	ENST00000414305.1	37	c.1120+1	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195553	0.78902	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6196	0.91316	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENPP3	132045996	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.762000	0.85270	2.705000	0.92388	0.650000	0.86243	.	ENPP3	-	-		0.348	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	G		Intron	132004303	+1	no_errors	ENST00000357639	ensembl	human	known	70_37	splice_site	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	7	102319054	102319054	+	IGR	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:102319054G>A								POLR2J2 (6966 upstream) : FAM185A (70363 downstream)																							GCTCCAAGTTGAGAGTGCAGA	0.577																																																	0																																										SO:0001628	intergenic_variant	0																															7.37:g.102319054G>A				Nonsense_Mutation	SNP	NULL	p.Q84*		37	c.250		7	.	.	.	.	.	.	.	.	.	.	g	10.05	1.243193	0.22796	.	.	ENSG00000205233	ENST00000542270	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	84	.	ENSP00000445063:Q84X	Q	-	1	0	AC105052.1	102106290	0.035000	0.19736	.	.	.	.	0.288000	0.18939	.	.	.	.	CAA	AC105052.1	-	NULL	0	0.577					ENSG00000205233	Clone_based_ensembl_gene			G			102319054	-1	no_errors	ENST00000542270	ensembl	human	known	70_37	nonsense	SNP	0.000	A
FKBP5	2289	genome.wustl.edu	37	6	35668872	35668872	+	Intron	DEL	G	G	-			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:35668872delG	ENST00000536438.1	-	2	297				AL157823.1_ENST00000411131.1_RNA	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5						chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						atttgcatatgaaaaaagtat	0.259																																																	0																																										SO:0001627	intron_variant	0			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000536438.1:c.18+19232C>-	6.37:g.35668872delG			F5H7R1|Q59EB8|Q5TGM6	RNA	DEL	-	NULL	ENST00000536438.1	37	NULL	CCDS4808.1	6																																																																																			AL157823.1	-	-		0.259	FKBP5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000223063	Clone_based_ensembl_gene	protein_coding		G			35668872	-1	no_errors	ENST00000411131	ensembl	human	novel	70_37	rna	DEL	0.063	-
LINC01266	101927215	genome.wustl.edu	37	3	791918	791918	+	lincRNA	SNP	C	C	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:791918C>A	ENST00000420823.1	+	0	197																											ATATAAGCTGCAGCTCAGAAT	0.353																																																	0																																												0																															3.37:g.791918C>A				RNA	SNP	-	NULL	ENST00000420823.1	37	NULL		3																																																																																			AC090044.1	-	-		0.353	AC090044.1-001	KNOWN	basic	lincRNA	ENSG00000224957	Clone_based_vega_gene	lincRNA	OTTHUMT00000337457.1	C			791918	+1	no_errors	ENST00000420823	ensembl	human	known	70_37	rna	SNP	0.962	A
FRG2FP	100128827	genome.wustl.edu	37	3	197838311	197838311	+	RNA	SNP	C	C	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:197838311C>A	ENST00000419104.1	+	0	433																											CACTGCTGTGCACTACAGTGA	0.498																																																	0																																												0																															3.37:g.197838311C>A				RNA	SNP	-	NULL	ENST00000419104.1	37	NULL		3																																																																																			AC073135.3	-	-		0.498	AC073135.3-003	KNOWN	basic	processed_transcript	ENSG00000232783	Clone_based_vega_gene	pseudogene	OTTHUMT00000339698.1	C			197838311	+1	no_errors	ENST00000419104	ensembl	human	known	70_37	rna	SNP	0.018	A
BDKRB1	623	genome.wustl.edu	37	14	96734718	96734718	+	Intron	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:96734718C>G	ENST00000553356.1	+	5	988				RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000557122.1_Intron			P46663	BKRB1_HUMAN	bradykinin receptor B1						cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GATTCCTCTTCTATTCCGAGT	0.468																																																	0																																										SO:0001627	intron_variant	0			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000553356.1:c.769-49C>G	14.37:g.96734718C>G			A8K7F5|Q546S7|Q8N0Y8	RNA	SNP	-	NULL	ENST00000553356.1	37	NULL		14																																																																																			RP11-404P21.3	-	-		0.468	BDKRB1-002	PUTATIVE	basic	protein_coding	ENSG00000258793	Clone_based_vega_gene	protein_coding	OTTHUMT00000413301.1	C			96734718	-1	no_errors	ENST00000553638	ensembl	human	known	70_37	rna	SNP	0.000	G
DNM1P47	100216544	genome.wustl.edu	37	15	102297176	102297178	+	RNA	DEL	GCT	GCT	-			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:102297176_102297178delGCT	ENST00000561463.1	+	0	5222_5224									DNM1 pseudogene 47																		TCTTCTCAGAGCTGCTGTCCAAC	0.581																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102297179_102297181delGCT				RNA	DEL	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.581	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	GCT	NG_009149		102297178	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	DEL	0.999:1.000:1.000	-
ARL2BP	23568	genome.wustl.edu	37	16	57282269	57282271	+	Intron	DEL	AGG	AGG	-	rs376460667|rs202174868|rs113190195		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:57282269_57282271delAGG	ENST00000219204.3	+	3	370				RP11-407G23.3_ENST00000564376.1_RNA|ARL2BP_ENST00000562023.1_Intron|RP11-407G23.4_ENST00000562409.1_RNA	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein						maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						aaaagaaaaCAGGAGGATTGGGC	0.404																																																	0																																										SO:0001627	intron_variant	0			AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"""binder of Arl2"""	615407	"""retinitis pigmentosa 66 (autosomal recessive)"""	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.101-178AGG>-	16.37:g.57282272_57282274delAGG			B3KQJ5|Q504R0	RNA	DEL	-	NULL	ENST00000219204.3	37	NULL	CCDS10776.1	16																																																																																			RP11-407G23.4	-	-		0.404	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260038	Clone_based_vega_gene	protein_coding	OTTHUMT00000257334.2	AGG	NM_012106		57282271	+1	no_errors	ENST00000562409	ensembl	human	known	70_37	rna	DEL	0.000:0.000:0.004	-
CIITA	4261	genome.wustl.edu	37	16	10971118	10971118	+	5'UTR	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:10971118G>T	ENST00000324288.8	+	0	64				CIITA_ENST00000381835.5_5'UTR|RP11-876N24.2_ENST00000573071.1_RNA|RP11-876N24.2_ENST00000572017.1_RNA	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator						aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGGCATCCTTGGGGAAGCTGA	0.612			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													30.0	32.0	32.0					16																	10971118		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.-70G>T	16.37:g.10971118G>T			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	RNA	SNP	-	NULL	ENST00000324288.8	37	NULL	CCDS10544.1	16																																																																																			RP11-876N24.2	-	-		0.612	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262151	Clone_based_vega_gene	protein_coding	OTTHUMT00000251966.2	G	NM_000246		10971118	-1	no_errors	ENST00000573071	ensembl	human	known	70_37	rna	SNP	0.000	T
EP300	2033	genome.wustl.edu	37	22	41569751	41569751	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr22:41569751C>T	ENST00000263253.7	+	29	5961	c.4742C>T	c.(4741-4743)tCa>tTa	p.S1581L	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1581	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AACGACCTCTCACAGAAACTA	0.463			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													154.0	162.0	159.0					22																	41569751		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4742C>T	22.37:g.41569751C>T	ENSP00000263253:p.Ser1581Leu		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S1581L	ENST00000263253.7	37	c.4742	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928584	0.92389	.	.	ENSG00000100393	ENST00000263253	D	0.93488	-3.23	5.52	5.52	0.82312	.	0.000000	0.42964	D	0.000628	D	0.97136	0.9064	M	0.86178	2.8	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.97448	1.0026	10	0.72032	D	0.01	-6.037	19.4388	0.94809	0.0:1.0:0.0:0.0	.	1581	Q09472	EP300_HUMAN	L	1581	ENSP00000263253:S1581L	ENSP00000263253:S1581L	S	+	2	0	EP300	39899697	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.734000	0.84928	2.590000	0.87494	0.655000	0.94253	TCA	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.463	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41569751	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	T
EPB41L3	23136	genome.wustl.edu	37	18	5397314	5397314	+	Missense_Mutation	SNP	G	G	A	rs368913981		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr18:5397314G>A	ENST00000341928.2	-	18	2924	c.2584C>T	c.(2584-2586)Cgt>Tgt	p.R862C	EPB41L3_ENST00000400111.3_Missense_Mutation_p.R640C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R862C|EPB41L3_ENST00000542146.1_Missense_Mutation_p.R167C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R693C|EPB41L3_ENST00000427684.2_Missense_Mutation_p.R159C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R640C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	862	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCACCACACGCCGCTCCTCC	0.612																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	61.0	61.0		2584	4.9	0.4	18		61	0,8600		0,0,4300	no	missense	EPB41L3	NM_012307.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	862/1088	5397314	1,13005	2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2584C>T	18.37:g.5397314G>A	ENSP00000343158:p.Arg862Cys		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.R862C	ENST00000341928.2	37	c.2584	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120567	0.37436	2.27E-4	0.0	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52	5.73	4.86	0.63082	.	0.985385	0.08343	N	0.960503	T	0.64483	0.2602	L	0.47716	1.5	0.39341	D	0.965584	D;D;D;D;P;P;D;D	0.76494	0.99;0.994;0.993;0.975;0.926;0.95;0.975;0.999	P;P;P;P;B;P;P;P	0.57846	0.584;0.724;0.828;0.582;0.226;0.599;0.462;0.614	T	0.55444	-0.8140	10	0.44086	T	0.13	.	14.7702	0.69671	0.0692:0.0:0.9308:0.0	.	693;159;167;254;531;640;862;97	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	C	862;531;693;531;159;167;862;640	ENSP00000343158:R862C;ENSP00000441174:R693C;ENSP00000392195:R159C;ENSP00000442233:R167C;ENSP00000341138:R862C;ENSP00000382981:R640C	ENSP00000343158:R862C	R	-	1	0	EPB41L3	5387314	0.956000	0.32656	0.392000	0.26245	0.017000	0.09413	2.459000	0.45023	1.429000	0.47314	0.591000	0.81541	CGT	EPB41L3	-	pirsf_Band_41_protein		0.612	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	G	NM_012307		5397314	-1	no_errors	ENST00000341928	ensembl	human	known	70_37	missense	SNP	0.947	A
ERCC4	2072	genome.wustl.edu	37	16	14029051	14029051	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:14029051G>A	ENST00000311895.7	+	8	1271	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	421	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCCCAGCTGAGAGACTATATC	0.413			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													139.0	129.0	132.0					16																	14029051		2197	4300	6497	SO:0001583	missense	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1262G>A	16.37:g.14029051G>A	ENSP00000310520:p.Arg421Lys		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.R421K	ENST00000311895.7	37	c.1262	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324025	0.24080	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.60797	0.16	5.77	3.76	0.43208	.	0.227137	0.52532	N	0.000074	T	0.45796	0.1360	L	0.46885	1.475	0.40548	D	0.981097	B	0.02656	0.0	B	0.04013	0.001	T	0.29792	-1.0000	10	0.12430	T	0.62	-11.0375	10.5031	0.44817	0.1552:0.0:0.8448:0.0	.	421	Q92889	XPF_HUMAN	K	421;410	ENSP00000310520:R421K	ENSP00000310520:R421K	R	+	2	0	ERCC4	13936552	1.000000	0.71417	0.519000	0.27824	0.984000	0.73092	2.553000	0.45837	0.724000	0.32296	0.650000	0.86243	AGA	ERCC4	-	tigrfam_Rad1		0.413	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	G	NM_005236		14029051	+1	no_errors	ENST00000311895	ensembl	human	known	70_37	missense	SNP	0.998	A
ETV4	2118	genome.wustl.edu	37	17	41606046	41606046	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:41606046G>A	ENST00000319349.5	-	13	1594	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	ETV4_ENST00000545089.1_Silent_p.F378F|ETV4_ENST00000538265.1_Silent_p.F393F|ETV4_ENST00000393664.2_Silent_p.F432F|ETV4_ENST00000586826.1_Silent_p.F155F|ETV4_ENST00000591713.1_Silent_p.F432F|ETV4_ENST00000545954.1_Silent_p.F393F	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	432					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GATTGTCCGGGAAGGCCAAAG	0.582			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)			Dom	yes		17	17q21	2118	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""		"""M, E"""	0													70.0	61.0	64.0					17																	41606046		2203	4300	6503	SO:0001819	synonymous_variant	2118			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.1296C>T	17.37:g.41606046G>A			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.F432	ENST00000319349.5	37	c.1296	CCDS11465.1	17																																																																																			ETV4	-	NULL		0.582	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	G	NM_001986		41606046	-1	no_errors	ENST00000319349	ensembl	human	known	70_37	silent	SNP	1.000	A
EXOC4	60412	genome.wustl.edu	37	7	133502139	133502139	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:133502139G>A	ENST00000253861.4	+	11	1605	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	EXOC4_ENST00000539845.1_Missense_Mutation_p.E425K|EXOC4_ENST00000545148.1_Missense_Mutation_p.E136K|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	526					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCCTCTTCGAGAGTTTCTCAC	0.413																																																	0													79.0	73.0	75.0					7																	133502139		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1576G>A	7.37:g.133502139G>A	ENSP00000253861:p.Glu526Lys		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.E526K	ENST00000253861.4	37	c.1576	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017187	0.54576	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	6.0	6.0	0.97389	.	0.164624	0.53938	D	0.000055	T	0.53610	0.1807	L	0.38175	1.15	0.80722	D	1	B;B;B	0.26708	0.157;0.082;0.097	B;B;B	0.27076	0.051;0.076;0.023	T	0.50816	-0.8783	9	0.07482	T	0.82	.	20.5595	0.99322	0.0:0.0:1.0:0.0	.	58;136;526	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	K	526;145;425;136	.	ENSP00000253861:E526K	E	+	1	0	EXOC4	133152679	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.960000	0.63673	2.868000	0.98415	0.555000	0.69702	GAG	EXOC4	-	NULL		0.413	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	G	NM_021807		133502139	+1	no_errors	ENST00000253861	ensembl	human	known	70_37	missense	SNP	1.000	A
EXOSC3	51010	genome.wustl.edu	37	9	37780697	37780697	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:37780697G>C	ENST00000327304.5	-	4	819	c.807C>G	c.(805-807)ttC>ttG	p.F269L	EXOSC3_ENST00000396521.3_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_5'UTR	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	269					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		CCAATCTGGAGAAGATCTGTT	0.378																																																	0													93.0	89.0	90.0					9																	37780697		2203	4300	6503	SO:0001583	missense	51010			BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"""exosome component Rrp40"", ""CGI-102 protein"""	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.807C>G	9.37:g.37780697G>C	ENSP00000323046:p.Phe269Leu		A8K0K6|Q5QP85|Q9Y3A8	Missense_Mutation	SNP	NULL	p.F269L	ENST00000327304.5	37	c.807	CCDS35016.1	9	.	.	.	.	.	.	.	.	.	.	G	4.189	0.033822	0.08101	.	.	ENSG00000107371	ENST00000327304	T	0.61392	0.11	5.51	1.12	0.20585	.	0.093959	0.64402	D	0.000001	T	0.27967	0.0689	N	0.11427	0.14	0.80722	D	1	B	0.17667	0.023	B	0.16289	0.015	T	0.03000	-1.1084	10	0.16896	T	0.51	-2.9761	3.1028	0.06331	0.4772:0.0:0.3266:0.1962	.	269	Q9NQT5	EXOS3_HUMAN	L	269	ENSP00000323046:F269L	ENSP00000323046:F269L	F	-	3	2	EXOSC3	37770697	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.618000	0.24373	0.694000	0.31654	-0.136000	0.14681	TTC	EXOSC3	-	NULL		0.378	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC3	HGNC	protein_coding	OTTHUMT00000052478.3	G	NM_016042		37780697	-1	no_errors	ENST00000327304	ensembl	human	known	70_37	missense	SNP	0.997	C
EXOSC5	56915	genome.wustl.edu	37	19	41903118	41903118	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:41903118G>A	ENST00000221233.4	-	1	266	c.116C>T	c.(115-117)tCg>tTg	p.S39L	BCKDHA_ENST00000457836.2_5'Flank|BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000269980.2_5'Flank|CTC-435M10.10_ENST00000598988.1_RNA|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.S39L	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	39					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ATCTGGCCGCGACAGCAGGTT	0.577																																																	0													128.0	125.0	126.0					19																	41903118		2203	4300	6503	SO:0001583	missense	56915			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.116C>T	19.37:g.41903118G>A	ENSP00000221233:p.Ser39Leu		Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.S39L	ENST00000221233.4	37	c.116	CCDS12580.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.137236	0.94517	.	.	ENSG00000077348	ENST00000221233	T	0.66995	-0.24	5.55	4.5	0.54988	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.172360	0.52532	D	0.000063	T	0.81322	0.4798	M	0.81497	2.545	0.58432	D	0.999998	D	0.89917	1.0	D	0.74674	0.984	D	0.84016	0.0351	10	0.66056	D	0.02	-34.4528	13.6491	0.62299	0.0:0.1554:0.8446:0.0	.	39	Q9NQT4	EXOS5_HUMAN	L	39	ENSP00000221233:S39L	ENSP00000221233:S39L	S	-	2	0	EXOSC5	46594958	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.634000	0.74290	1.551000	0.49450	0.590000	0.80494	TCG	EXOSC5	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold		0.577	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC5	HGNC	protein_coding	OTTHUMT00000463492.1	G	NM_020158		41903118	-1	no_errors	ENST00000221233	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM135B	51059	genome.wustl.edu	37	8	139190862	139190862	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr8:139190862C>G	ENST00000395297.1	-	10	1115	c.945G>C	c.(943-945)atG>atC	p.M315I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	315										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCACAGAGTCATCATGTGGG	0.527										HNSCC(54;0.14)																																							0													138.0	138.0	138.0					8																	139190862		2060	4202	6262	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.945G>C	8.37:g.139190862C>G	ENSP00000378710:p.Met315Ile		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.M315I	ENST00000395297.1	37	c.945	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	7.908	0.735862	0.15574	.	.	ENSG00000147724	ENST00000395297	D	0.85013	-1.93	5.26	5.26	0.73747	.	0.195067	0.46442	D	0.000291	T	0.74711	0.3752	N	0.14661	0.345	0.28242	N	0.925625	P	0.35656	0.514	B	0.39217	0.294	T	0.67522	-0.5649	10	0.24483	T	0.36	-27.9818	12.466	0.55759	0.0:0.8313:0.1687:0.0	.	315	Q49AJ0	F135B_HUMAN	I	315	ENSP00000378710:M315I	ENSP00000276737:M315I	M	-	3	0	FAM135B	139260044	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	0.871000	0.28023	2.616000	0.88540	0.561000	0.74099	ATG	FAM135B	-	pfam_DUF3657		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	C	NM_015912		139190862	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	1.000	G
FBN2	2201	genome.wustl.edu	37	5	127613633	127613633	+	Silent	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:127613633G>T	ENST00000508053.1	-	64	8384	c.7410C>A	c.(7408-7410)ggC>ggA	p.G2470G	FBN2_ENST00000262464.4_Silent_p.G2470G			P35556	FBN2_HUMAN	fibrillin 2	2470	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCGGAATGAGCCCATGGTAT	0.458																																																	0													172.0	142.0	152.0					5																	127613633		2203	4300	6503	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7410C>A	5.37:g.127613633G>T			B4DU01|Q59ES6	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.G2470	ENST00000508053.1	37	c.7410	CCDS34222.1	5																																																																																			FBN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	G	NM_001999		127613633	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	silent	SNP	1.000	T
FBRSL1	57666	genome.wustl.edu	37	12	133086362	133086362	+	Intron	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:133086362C>T	ENST00000434748.2	+	2	1509				FBRSL1_ENST00000261673.6_Intron|FBRSL1_ENST00000542061.1_3'UTR	NM_001142641.1	NP_001136113.1	Q9HCM7	FBSL_HUMAN	fibrosin-like 1								poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(1)|stomach(1)	4						AGGGCATCCTCAGGACAGCGC	0.751																																																	0																																										SO:0001627	intron_variant	57666				CCDS45010.1	12q24.33	2008-12-09			ENSG00000112787	ENSG00000112787			29308	protein-coding gene	gene with protein product						10997877	Standard	NM_001142641		Approved	KIAA1545	uc001ukf.3	Q9HCM7	OTTHUMG00000167991	ENST00000434748.2:c.489+1426C>T	12.37:g.133086362C>T			Q86XQ1	RNA	SNP	-	NULL	ENST00000434748.2	37	NULL	CCDS45010.1	12																																																																																			FBRSL1	-	-		0.751	FBRSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBRSL1	HGNC	protein_coding	OTTHUMT00000397404.2	C			133086362	+1	no_errors	ENST00000542061	ensembl	human	known	70_37	rna	SNP	0.994	T
FBXO22	26263	genome.wustl.edu	37	15	76209576	76209576	+	Missense_Mutation	SNP	C	C	G	rs137946219	byFrequency	TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:76209576C>G	ENST00000308275.3	+	5	574	c.469C>G	c.(469-471)Cca>Gca	p.P157A	FBXO22_ENST00000453211.2_Missense_Mutation_p.P157A|FBXO22_ENST00000540507.1_Missense_Mutation_p.P53A	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	157					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCTAGTGACTCCAATGGGATC	0.343																																																	0													70.0	74.0	72.0					15																	76209576		2197	4293	6490	SO:0001583	missense	26263			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.469C>G	15.37:g.76209576C>G	ENSP00000307833:p.Pro157Ala		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.P157A	ENST00000308275.3	37	c.469	CCDS10287.1	15	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844135	0.71488	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	L	0.32530	0.975	0.58432	D	0.999998	D;D	0.89917	1.0;0.994	D;P	0.87578	0.998;0.888	T	0.63786	-0.6558	9	0.38643	T	0.18	-14.0841	15.1415	0.72615	0.0:1.0:0.0:0.0	.	157;157	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	A	157;157;53	.	ENSP00000307833:P157A	P	+	1	0	FBXO22	73996631	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.741000	0.62095	2.655000	0.90218	0.650000	0.86243	CCA	FBXO22	-	NULL		0.343	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO22	HGNC	protein_coding	OTTHUMT00000286477.2	C	NM_147188		76209576	+1	no_errors	ENST00000308275	ensembl	human	known	70_37	missense	SNP	1.000	G
FIG4	9896	genome.wustl.edu	37	6	110146303	110146303	+	Silent	SNP	G	G	A	rs1127771	byFrequency	TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:110146303G>A	ENST00000230124.3	+	23	2683	c.2559G>A	c.(2557-2559)tcG>tcA	p.S853S	RP1-249I4.2_ENST00000458693.1_lincRNA|FIG4_ENST00000441478.2_Silent_p.S547S	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	853					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CACCCATCTCGGCTTTCTCGC	0.453													g|||	1982	0.395767	0.0915	0.451	5008	,	,		19345	0.5595		0.4205	False		,,,				2504	0.5736																0								G		652,3754	275.2+/-272.4	52,548,1603	106.0	103.0	104.0		2559	-9.5	0.9	6	dbSNP_119	104	3529,5071	513.3+/-378.1	743,2043,1514	no	coding-synonymous	FIG4	NM_014845.5		795,2591,3117	AA,AG,GG		41.0349,14.798,32.1467		853/908	110146303	4181,8825	2203	4300	6503	SO:0001819	synonymous_variant	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2559G>A	6.37:g.110146303G>A			Q53H49|Q5TCS6	Silent	SNP	pfam_Syja_N,pfscan_Syja_N	p.S853	ENST00000230124.3	37	c.2559	CCDS5078.1	6																																																																																			FIG4	-	NULL		0.453	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	G	NM_014845		110146303	+1	no_errors	ENST00000230124	ensembl	human	known	70_37	silent	SNP	0.327	A
MACROD1	28992	genome.wustl.edu	37	11	63884108	63884108	+	Intron	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:63884108C>G	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.I123M|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						AGTTCCCCATCAACCTGCCCC	0.602																																																	0													55.0	53.0	54.0					11																	63884108		2201	4297	6498	SO:0001627	intron_variant	23769			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34602G>C	11.37:g.63884108C>G			Q9UH96	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.I123M	ENST00000255681.6	37	c.369	CCDS8056.1	11	.	.	.	.	.	.	.	.	.	.	C	1.328	-0.597573	0.03771	.	.	ENSG00000126500	ENST00000246841	T	0.02472	4.28	5.57	4.64	0.57946	.	0.456503	0.21614	N	0.071748	T	0.02727	0.0082	N	0.17082	0.46	0.25132	N	0.990566	B	0.11235	0.004	B	0.12837	0.008	T	0.42498	-0.9448	10	0.32370	T	0.25	-36.5836	15.1389	0.72595	0.0:0.8576:0.1424:0.0	.	95	Q9NZU1	FLRT1_HUMAN	M	123	ENSP00000246841:I123M	ENSP00000246841:I123M	I	+	3	3	FLRT1	63640684	0.903000	0.30736	0.985000	0.45067	0.997000	0.91878	0.462000	0.21956	1.311000	0.45024	0.561000	0.74099	ATC	FLRT1	-	NULL		0.602	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT1	HGNC	protein_coding	OTTHUMT00000396570.1	C	NM_014067		63884108	+1	no_errors	ENST00000246841	ensembl	human	known	70_37	missense	SNP	0.979	G
FLYWCH1	84256	genome.wustl.edu	37	16	2986312	2986312	+	Intron	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:2986312C>G	ENST00000253928.9	+	7	1918				FLYWCH1_ENST00000416288.2_Intron|FLYWCH1_ENST00000399667.2_Intron|FLYWCH1_ENST00000570752.1_3'UTR			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GTCCTGACCTCTTCTGTCTCG	0.652																																																	0																																										SO:0001627	intron_variant	84256			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1514-810C>G	16.37:g.2986312C>G			D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	RNA	SNP	-	NULL	ENST00000253928.9	37	NULL		16																																																																																			FLYWCH1	-	-		0.652	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	FLYWCH1	HGNC	protein_coding	OTTHUMT00000436479.1	C	NM_032296		2986312	+1	no_errors	ENST00000570752	ensembl	human	known	70_37	rna	SNP	0.000	G
FMO2	2327	genome.wustl.edu	37	1	171173052	171173052	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:171173052G>A	ENST00000209929.7	+	6	834	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	FMO2_ENST00000441535.1_Missense_Mutation_p.E226K|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	226					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCGTATCTCTGAAGATGGCTA	0.468																																																	0													133.0	104.0	114.0					1																	171173052		2203	4300	6503	SO:0001583	missense	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.676G>A	1.37:g.171173052G>A	ENSP00000209929:p.Glu226Lys		Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.E226K	ENST00000209929.7	37	c.676	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433473	0.62955	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.53640	0.61;0.61	6.13	4.27	0.50696	.	0.481200	0.23732	N	0.045106	T	0.18800	0.0451	N	0.22421	0.69	0.36196	D	0.850418	B	0.10296	0.003	B	0.16289	0.015	T	0.04065	-1.0980	10	0.52906	T	0.07	-15.5254	12.1424	0.54005	0.1401:0.0:0.8599:0.0	.	226	Q99518	FMO2_HUMAN	K	226	ENSP00000209929:E226K;ENSP00000405905:E226K	ENSP00000209929:E226K	E	+	1	0	FMO2	169439676	0.681000	0.27614	0.953000	0.39169	0.836000	0.47400	1.219000	0.32479	0.930000	0.37217	0.650000	0.86243	GAA	FMO2	-	pfam_Flavin_mOase-like		0.468	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	G	NM_001460		171173052	+1	no_errors	ENST00000209929	ensembl	human	known	70_37	missense	SNP	0.953	A
GAS7	8522	genome.wustl.edu	37	17	9850223	9850223	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:9850223G>A	ENST00000432992.2	-	6	763	c.603C>T	c.(601-603)tgC>tgT	p.C201C	GAS7_ENST00000323816.4_Silent_p.C141C|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000583882.1_Silent_p.C61C|GAS7_ENST00000579158.1_Silent_p.C137C|GAS7_ENST00000542249.1_Silent_p.C137C|GAS7_ENST00000437099.2_Silent_p.C137C|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000585266.1_Silent_p.C141C|GAS7_ENST00000580865.1_Silent_p.C61C|GAS7_ENST00000578655.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	201	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGAAGTAGTCGCAGTAGCTCC	0.572			T	MLL	AML*																																			Dom	yes		17	17p	8522	growth arrest-specific 7		L	0													103.0	68.0	80.0					17																	9850223		2203	4300	6503	SO:0001819	synonymous_variant	8522			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.603C>T	17.37:g.9850223G>A			A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	pfam_FCH,pfam_WW_Rsp5_WWP,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_FCH,pfscan_FCH,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP	p.C201	ENST00000432992.2	37	c.603	CCDS11152.1	17																																																																																			GAS7	-	pfscan_FCH		0.572	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS7	HGNC	protein_coding	OTTHUMT00000439883.1	G	NM_003644, NM_201432, NM_201433		9850223	-1	no_errors	ENST00000432992	ensembl	human	known	70_37	silent	SNP	0.111	A
GATSL2	729438	genome.wustl.edu	37	7	74824208	74824208	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:74824208G>C	ENST00000426327.3	-	2	326	c.159C>G	c.(157-159)atC>atG	p.I53M		NM_001145064.1	NP_001138536.1	A6NHX0	GATL2_HUMAN	GATS protein-like 2	53																	CATCGACAATGATAGTGTAAT	0.542																																																	0													13.0	11.0	11.0					7																	74824208		691	1564	2255	SO:0001583	missense	729438			BC147030	CCDS75620.1	7q11.23	2014-05-06			ENSG00000198750	ENSG00000274070			37073	protein-coding gene	gene with protein product							Standard	NM_001145064		Approved		uc003ucg.2	A6NHX0	OTTHUMG00000181541	ENST00000426327.3:c.159C>G	7.37:g.74824208G>C	ENSP00000452571:p.Ile53Met		B9EJH9	Missense_Mutation	SNP	NULL	p.I53M	ENST00000426327.3	37	c.159	CCDS47616.1	7	.	.	.	.	.	.	.	.	.	.	G	7.646	0.681867	0.14907	.	.	ENSG00000198750	ENST00000426327	.	.	.	3.42	2.54	0.30619	.	0.058531	0.64402	D	0.000003	T	0.42517	0.1206	L	0.50333	1.59	0.37492	D	0.916413	P	0.39216	0.664	B	0.37304	0.246	T	0.46775	-0.9167	9	0.72032	D	0.01	.	6.4366	0.21827	0.1385:0.0:0.8615:0.0	.	53	A6NHX0	GATL2_HUMAN	M	53	.	ENSP00000354869:I53M	I	-	3	3	GATSL2	74662144	1.000000	0.71417	0.992000	0.48379	0.312000	0.27988	3.219000	0.51200	0.646000	0.30693	-0.324000	0.08512	ATC	GATSL2	-	NULL		0.542	GATSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATSL2	HGNC	protein_coding	OTTHUMT00000342726.6	G	NM_001145064		74824208	-1	no_errors	ENST00000426327	ensembl	human	known	70_37	missense	SNP	1.000	C
GOLGA8O	728047	genome.wustl.edu	37	15	32738028	32738028	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:32738028G>A	ENST00000509311.2	-	16	1537	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	RN7SL539P_ENST00000482670.2_RNA|AC135983.1_ENST00000408391.1_RNA	NM_001277308.1	NP_001264237.1	A6NCC3	GOG8O_HUMAN	golgin A8 family, member O	480						Golgi apparatus (GO:0005794)											AGTATTGAATGAAGCGAAGTT	0.532																																																	0																																										SO:0001819	synonymous_variant	728047				CCDS59252.1	15q13.3	2012-10-05			ENSG00000206127	ENSG00000206127			44406	protein-coding gene	gene with protein product							Standard	NM_001277308		Approved		uc031qrg.1	A6NCC3	OTTHUMG00000162878	ENST00000509311.2:c.1440C>T	15.37:g.32738028G>A			A6NHZ1|E7ENU5	Silent	SNP	NULL	p.F480	ENST00000509311.2	37	c.1440	CCDS59252.1	15																																																																																			GOLGA8O	-	NULL		0.532	GOLGA8O-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8O	HGNC	protein_coding	OTTHUMT00000370931.3	G			32738028	-1	no_errors	ENST00000509311	ensembl	human	novel	70_37	silent	SNP	1.000	A
GREM2	64388	genome.wustl.edu	37	1	240656728	240656728	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:240656728C>T	ENST00000318160.4	-	2	314	c.48G>A	c.(46-48)gtG>gtA	p.V16V		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	16					BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCGCCACCTTCACCAGCACCG	0.612																																																	0													10.0	12.0	11.0					1																	240656728		2181	4259	6440	SO:0001819	synonymous_variant	64388			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.48G>A	1.37:g.240656728C>T			Q86UD9	Silent	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.V16	ENST00000318160.4	37	c.48	CCDS31070.1	1																																																																																			GREM2	-	pirsf_Gremlin_precursor		0.612	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	HGNC	protein_coding	OTTHUMT00000096286.1	C	NM_022469		240656728	-1	no_errors	ENST00000318160	ensembl	human	known	70_37	silent	SNP	0.993	T
GTF3C1	2975	genome.wustl.edu	37	16	27519901	27519901	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:27519901C>G	ENST00000356183.4	-	8	1217	c.1202G>C	c.(1201-1203)aGa>aCa	p.R401T	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R401T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	401					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCACAGCATTCTTGCTTCTAG	0.458																																																	0													206.0	166.0	180.0					16																	27519901		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1202G>C	16.37:g.27519901C>G	ENSP00000348510:p.Arg401Thr		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R401T	ENST00000356183.4	37	c.1202	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861046	0.91433	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.56611	0.45	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	L	0.34521	1.04	0.47905	D	0.999549	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68179	-0.5477	10	0.87932	D	0	-5.5241	18.843	0.92192	0.0:1.0:0.0:0.0	.	401;401	Q12789;Q12789-3	TF3C1_HUMAN;.	T	401;399	ENSP00000348510:R401T	ENSP00000348510:R401T	R	-	2	0	GTF3C1	27427402	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.252000	0.78309	2.538000	0.85594	0.650000	0.86243	AGA	GTF3C1	-	NULL		0.458	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27519901	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	1.000	G
HERC6	55008	genome.wustl.edu	37	4	89363478	89363478	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:89363478C>T	ENST00000264346.7	+	23	2994	c.2935C>T	c.(2935-2937)Cac>Tac	p.H979Y	HERC6_ENST00000380265.5_Missense_Mutation_p.H943Y	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	979	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TGAAAGAGATCACCCAACATC	0.398																																																	0													88.0	85.0	86.0					4																	89363478		1926	4137	6063	SO:0001583	missense	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2935C>T	4.37:g.89363478C>T	ENSP00000264346:p.His979Tyr		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.H979Y	ENST00000264346.7	37	c.2935	CCDS47098.1	4	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.310190	0.00237	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.55760	0.5;0.5	4.69	-9.38	0.00623	HECT (4);	2.091620	0.01930	N	0.041155	T	0.18383	0.0441	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.30650	-0.9971	10	0.44086	T	0.13	.	3.883	0.09086	0.4765:0.3195:0.08:0.124	.	943;979	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	Y	943;979	ENSP00000369617:H943Y;ENSP00000264346:H979Y	ENSP00000264346:H979Y	H	+	1	0	HERC6	89582501	0.000000	0.05858	0.000000	0.03702	0.272000	0.26649	-2.923000	0.00692	-2.394000	0.00583	-0.229000	0.12294	CAC	HERC6	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.398	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	C			89363478	+1	no_errors	ENST00000264346	ensembl	human	known	70_37	missense	SNP	0.000	T
HLA-A	3105	genome.wustl.edu	37	6	29911954	29911954	+	Silent	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:29911954G>C	ENST00000396634.1	+	6	1016	c.675G>C	c.(673-675)ctG>ctC	p.L225L	HLA-A_ENST00000376802.2_Silent_p.L225L|HLA-A_ENST00000376809.5_Silent_p.L225L|HLA-A_ENST00000376806.5_Silent_p.L225L			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	225	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.L225L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AGGCCACCCTGAGGTGCTGGG	0.602									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											75.0	98.0	90.0					6																	29911954		1508	2707	4215	SO:0001819	synonymous_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.675G>C	6.37:g.29911954G>C			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.L225	ENST00000396634.1	37	c.675	CCDS34373.1	6																																																																																			HLA-A	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.602	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29911954	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	silent	SNP	1.000	C
HMGN5	79366	genome.wustl.edu	37	X	80370360	80370360	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:80370360C>T	ENST00000358130.2	-	7	965	c.637G>A	c.(637-639)Gat>Aat	p.D213N	HMGN5_ENST00000491275.1_5'Flank	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	213					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						tcttttccatcttcattctct	0.363																																																	0													285.0	246.0	260.0					X																	80370360		1641	2892	4533	SO:0001583	missense	79366			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.637G>A	X.37:g.80370360C>T	ENSP00000350848:p.Asp213Asn		Q5JSL1	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.D213N	ENST00000358130.2	37	c.637	CCDS14448.1	X	.	.	.	.	.	.	.	.	.	.	C	5.678	0.309666	0.10733	.	.	ENSG00000198157	ENST00000358130;ENST00000447319	.	.	.	3.79	2.89	0.33648	.	0.221845	0.22777	N	0.055773	T	0.30103	0.0754	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	P	0.56127	0.792	T	0.07252	-1.0782	9	0.27082	T	0.32	.	8.1158	0.30942	0.0:0.7463:0.2537:0.0	.	213	P82970	HMGN5_HUMAN	N	213;193	.	ENSP00000350848:D213N	D	-	1	0	HMGN5	80257016	0.000000	0.05858	0.007000	0.13788	0.033000	0.12548	-0.914000	0.04038	0.932000	0.37266	0.544000	0.68410	GAT	HMGN5	-	NULL		0.363	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1	C	NM_030763		80370360	-1	no_errors	ENST00000358130	ensembl	human	known	70_37	missense	SNP	0.007	T
HNRNPR	10236	genome.wustl.edu	37	1	23640126	23640126	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:23640126C>T	ENST00000374612.1	-	9	1210	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	HNRNPR_ENST00000302271.6_Missense_Mutation_p.E363K|HNRNPR_ENST00000374616.3_Missense_Mutation_p.E366K|HNRNPR_ENST00000606561.1_Missense_Mutation_p.E224K|HNRNPR_ENST00000426846.2_Missense_Mutation_p.E203K|HNRNPR_ENST00000478691.1_Missense_Mutation_p.E265K|HNRNPR_ENST00000476660.1_5'Flank|HNRNPR_ENST00000427764.2_Missense_Mutation_p.E325K	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	363	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTCCAAATTCAGAAAATGAC	0.328																																																	0													65.0	71.0	69.0					1																	23640126		2200	4296	6496	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1087G>A	1.37:g.23640126C>T	ENSP00000363741:p.Glu363Lys		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E366K	ENST00000374612.1	37	c.1096	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569995	0.65765	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.105374	0.64402	D	0.000003	T	0.12944	0.0314	N	0.05124	-0.11	0.45704	D	0.998613	B;P;P;P;B;B	0.42248	0.024;0.475;0.774;0.667;0.032;0.442	B;P;B;P;B;B	0.47251	0.089;0.542;0.356;0.474;0.04;0.219	T	0.18903	-1.0322	10	0.51188	T	0.08	.	18.7377	0.91761	0.0:1.0:0.0:0.0	.	203;325;224;343;363;366	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	K	366;363;363;325;203	ENSP00000363745:E366K;ENSP00000363741:E363K;ENSP00000304405:E363K;ENSP00000392799:E325K;ENSP00000415042:E203K	ENSP00000304405:E363K	E	-	1	0	HNRNPR	23512713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.143000	0.58051	2.774000	0.95407	0.585000	0.79938	GAA	HNRNPR	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.328	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	C	NM_005826		23640126	-1	no_errors	ENST00000374616	ensembl	human	known	70_37	missense	SNP	1.000	T
HOOK2	29911	genome.wustl.edu	37	19	12875631	12875631	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:12875631G>A	ENST00000397668.3	-	20	1897	c.1824C>T	c.(1822-1824)cgC>cgT	p.R608R	HOOK2_ENST00000264827.5_Silent_p.R606R|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	608	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCCTCACCATGCGGGCCTTGT	0.597											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83.0	86.0	85.0					19																	12875631		2077	4212	6289	SO:0001819	synonymous_variant	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1824C>T	19.37:g.12875631G>A		683	O60562	Silent	SNP	pfam_HOOK,superfamily_UBA-like	p.R608	ENST00000397668.3	37	c.1824	CCDS42508.1	19																																																																																			HOOK2	-	pfam_HOOK		0.597	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1	G	NM_013312		12875631	-1	no_errors	ENST00000397668	ensembl	human	known	70_37	silent	SNP	0.489	A
ILVBL	10994	genome.wustl.edu	37	19	15226402	15226402	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:15226402G>A	ENST00000263383.3	-	15	1834	c.1695C>T	c.(1693-1695)aaC>aaT	p.N565N	ILVBL_ENST00000534378.1_Silent_p.N458N	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	565						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACAGGCCACGTTGCTGCCCA	0.602																																																	0													57.0	58.0	57.0					19																	15226402		2203	4300	6503	SO:0001819	synonymous_variant	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1695C>T	19.37:g.15226402G>A			O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.N565	ENST00000263383.3	37	c.1695	CCDS12325.1	19																																																																																			ILVBL	-	pfam_TPP_enzyme-bd_C		0.602	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	HGNC	protein_coding	OTTHUMT00000385439.1	G	NM_006844		15226402	-1	no_errors	ENST00000263383	ensembl	human	known	70_37	silent	SNP	0.982	A
IMPG2	50939	genome.wustl.edu	37	3	100994515	100994515	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:100994515C>G	ENST00000193391.7	-	6	845	c.658G>C	c.(658-660)Gag>Cag	p.E220Q		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	220					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ACACTCTCCTCTGGCCTTTCC	0.443																																																	0													105.0	95.0	98.0					3																	100994515		2203	4300	6503	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.658G>C	3.37:g.100994515C>G	ENSP00000193391:p.Glu220Gln		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E220Q	ENST00000193391.7	37	c.658	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839012	0.32513	.	.	ENSG00000081148	ENST00000193391	T	0.24151	1.87	5.46	3.63	0.41609	.	0.428676	0.23694	N	0.045498	T	0.12732	0.0309	N	0.12746	0.255	0.22096	N	0.999363	B;B	0.20550	0.046;0.022	B;B	0.17098	0.017;0.012	T	0.27571	-1.0070	10	0.21014	T	0.42	-3.8459	8.3364	0.32217	0.0:0.7519:0.1626:0.0855	.	220;220	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	Q	220	ENSP00000193391:E220Q	ENSP00000193391:E220Q	E	-	1	0	IMPG2	102477205	0.023000	0.18921	0.464000	0.27143	0.985000	0.73830	1.036000	0.30228	0.652000	0.30806	0.555000	0.69702	GAG	IMPG2	-	NULL		0.443	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	C			100994515	-1	no_errors	ENST00000193391	ensembl	human	known	70_37	missense	SNP	0.753	G
INHBE	83729	genome.wustl.edu	37	12	57850121	57850121	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:57850121G>A	ENST00000266646.2	+	2	759	c.543G>A	c.(541-543)gaG>gaA	p.E181E	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	181					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TGAGGGGTGAGAAGTCTGGTG	0.587											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)												0													156.0	146.0	149.0					12																	57850121		2203	4300	6503	SO:0001819	synonymous_variant	83729				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.543G>A	12.37:g.57850121G>A		1026		Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.E181	ENST00000266646.2	37	c.543	CCDS8939.1	12																																																																																			INHBE	-	pfam_TGF-b_N		0.587	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	G	NM_031479		57850121	+1	no_errors	ENST00000266646	ensembl	human	known	70_37	silent	SNP	0.000	A
INO80B	83444	genome.wustl.edu	37	2	74684521	74684521	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:74684521G>A	ENST00000233331.7	+	5	695	c.601G>A	c.(601-603)Gag>Aag	p.E201K	WBP1_ENST00000393972.3_5'Flank|INO80B_ENST00000409917.1_Intron|WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000233615.2_5'Flank|INO80B_ENST00000469849.1_3'UTR	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	201					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCCTGTAGCTGAGGGCTGCCC	0.672																																																	0													11.0	12.0	11.0					2																	74684521		2184	4272	6456	SO:0001583	missense	83444			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.601G>A	2.37:g.74684521G>A	ENSP00000233331:p.Glu201Lys			Missense_Mutation	SNP	pfam_PAPA1,pfam_Znf_HIT	p.E201K	ENST00000233331.7	37	c.601	CCDS1942.2	2	.	.	.	.	.	.	.	.	.	.	G	0.470	-0.885083	0.02511	.	.	ENSG00000115274	ENST00000233331;ENST00000409493	T;T	0.44083	1.01;0.93	4.3	1.38	0.22167	.	0.326341	0.21081	N	0.080483	T	0.15565	0.0375	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.10222	-1.0639	10	0.07482	T	0.82	-6.1206	4.2627	0.10749	0.0963:0.1536:0.5932:0.1568	.	219;186;201	B4DJ31;B4DJ22;Q9C086	.;.;IN80B_HUMAN	K	201;206	ENSP00000233331:E201K;ENSP00000386937:E206K	ENSP00000233331:E201K	E	+	1	0	INO80B	74538029	0.596000	0.26866	0.657000	0.29651	0.016000	0.09150	1.178000	0.31981	1.048000	0.40298	-0.379000	0.06801	GAG	INO80B	-	NULL		0.672	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80B	HGNC	protein_coding	OTTHUMT00000252223.2	G	NM_031288		74684521	+1	no_errors	ENST00000452361	ensembl	human	known	70_37	missense	SNP	0.926	A
INSIG1	3638	genome.wustl.edu	37	7	155095546	155095546	+	Intron	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:155095546C>T	ENST00000340368.4	+	5	1015				INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Silent_p.F120F	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1						cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATACCCTTCTGTGAGGAGT	0.403																																																	0													92.0	92.0	92.0					7																	155095546		2203	4300	6503	SO:0001627	intron_variant	3638				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.804+990C>T	7.37:g.155095546C>T			A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Silent	SNP	pfam_INSIG_fam	p.F120	ENST00000340368.4	37	c.360	CCDS5938.1	7																																																																																			INSIG1	-	NULL		0.403	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG1	HGNC	protein_coding	OTTHUMT00000322244.3	C	NM_198336		155095546	+1	no_errors	ENST00000344756	ensembl	human	known	70_37	silent	SNP	0.000	T
IRF1	3659	genome.wustl.edu	37	5	131825132	131825132	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:131825132C>G	ENST00000245414.4	-	2	297	c.39G>C	c.(37-39)gaG>gaC	p.E13D	IRF1_ENST00000405885.2_Missense_Mutation_p.E13D|IRF1_ENST00000463784.1_Intron	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	13					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TAATCTGCATCTCTAGCCAGG	0.473																																																	0													106.0	105.0	106.0					5																	131825132		2203	4300	6503	SO:0001583	missense	3659				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.39G>C	5.37:g.131825132C>G	ENSP00000245414:p.Glu13Asp		Q96GG7	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.E13D	ENST00000245414.4	37	c.39	CCDS4155.1	5	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503847	0.85176	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	5.59	5.59	0.84812	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98751	0.9580	M	0.88105	2.93	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.76071	0.982;0.987	D	0.99013	1.0815	10	0.66056	D	0.02	-42.3658	13.6629	0.62378	0.0:0.9199:0.0:0.0801	.	13;13	Q5FBX3;P10914	.;IRF1_HUMAN	D	13	ENSP00000245414:E13D;ENSP00000384406:E13D;ENSP00000405655:E13D;ENSP00000396318:E13D	ENSP00000245414:E13D	E	-	3	2	IRF1	131853031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.743000	0.55104	2.793000	0.96121	0.561000	0.74099	GAG	IRF1	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom		0.473	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1	C	NM_002198		131825132	-1	no_errors	ENST00000245414	ensembl	human	known	70_37	missense	SNP	1.000	G
ITIH2	3698	genome.wustl.edu	37	10	7791170	7791170	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr10:7791170G>A	ENST00000358415.4	+	21	2880	c.2714G>A	c.(2713-2715)aGa>aAa	p.R905K	ITIH2_ENST00000379587.4_Missense_Mutation_p.R894K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	905					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAAGACTACAGAACGGATCTA	0.488																																																	0													223.0	191.0	202.0					10																	7791170		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2714G>A	10.37:g.7791170G>A	ENSP00000351190:p.Arg905Lys		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R905K	ENST00000358415.4	37	c.2714	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611069	0.87258	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.11821	2.74;2.74	5.49	5.49	0.81192	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	M	0.88704	2.975	0.47698	D	0.999499	D	0.55605	0.972	P	0.58721	0.844	T	0.33650	-0.9860	10	0.59425	D	0.04	-24.0119	12.6891	0.56964	0.0755:0.0:0.9245:0.0	.	905	P19823	ITIH2_HUMAN	K	905;894	ENSP00000351190:R905K;ENSP00000368906:R894K	ENSP00000351190:R905K	R	+	2	0	ITIH2	7831176	1.000000	0.71417	0.950000	0.38849	0.547000	0.35210	7.631000	0.83237	2.573000	0.86826	0.561000	0.74099	AGA	ITIH2	-	pfam_ITI_HC_C		0.488	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	G	NM_002216		7791170	+1	no_errors	ENST00000358415	ensembl	human	known	70_37	missense	SNP	0.998	A
ITPR1	3708	genome.wustl.edu	37	3	4856756	4856756	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:4856756G>C	ENST00000443694.2	+	56	7676	c.7676G>C	c.(7675-7677)aGa>aCa	p.R2559T	AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2526T|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2526T|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2559T|ITPR1_ENST00000456211.2_Missense_Mutation_p.R2511T|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000302640.8_Missense_Mutation_p.R2559T|ITPR1_ENST00000544951.1_Missense_Mutation_p.R537T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2574					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTTGCTGCTAGAGTTATTTAT	0.483																																																	0													225.0	220.0	221.0					3																	4856756		1966	4185	6151	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7676G>C	3.37:g.4856756G>C	ENSP00000401671:p.Arg2559Thr		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R2559T	ENST00000443694.2	37	c.7676	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624175	0.87560	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	4.59	4.59	0.56863	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	H	0.94385	3.53	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98942	1.0791	10	0.87932	D	0	.	17.415	0.87497	0.0:0.0:1.0:0.0	.	537;2574;2526	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	T	2574;2559;2559;2526;1020;2526;2511;537;2559	ENSP00000306253:R2559T;ENSP00000346595:R2559T;ENSP00000405934:R2526T;ENSP00000349597:R2526T;ENSP00000397885:R2511T;ENSP00000440564:R537T;ENSP00000401671:R2559T	ENSP00000306253:R2559T	R	+	2	0	ITPR1	4831756	1.000000	0.71417	0.967000	0.41034	0.880000	0.50808	9.787000	0.99055	2.100000	0.63781	0.467000	0.42956	AGA	ITPR1	-	pfam_Ion_trans_dom		0.483	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4856756	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	0.997	C
KCP	375616	genome.wustl.edu	37	7	128526780	128526780	+	RNA	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:128526780G>C	ENST00000476647.2	-	0	2743							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)	4						TCCCGGCCCTGAGAGAGACAG	0.672																																																	0													72.0	65.0	67.0					7																	128526780		692	1591	2283			375616			AK122706		7q32.3	2009-11-06	2009-02-18	2009-02-18	ENSG00000135253	ENSG00000135253			17585	protein-coding gene	gene with protein product	"""kielin"""	609344	"""cysteine rich BMP regulator 2 (chordin-like)"""	CRIM2		15793581	Standard	NM_001135914		Approved	FLJ33365, NET67	uc011kor.2	Q6ZWJ8	OTTHUMG00000158363		7.37:g.128526780G>C			Q8NBE0	RNA	SNP	-	NULL	ENST00000476647.2	37	NULL		7																																																																																			KCP	-	-		0.672	KCP-006	KNOWN	basic	processed_transcript	KCP	HGNC	processed_transcript	OTTHUMT00000403051.1	G	NM_199349		128526780	-1	no_errors	ENST00000297801	ensembl	human	known	70_37	rna	SNP	0.029	C
KDM7A	80853	genome.wustl.edu	37	7	139791674	139791674	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:139791674G>A	ENST00000397560.2	-	19	2758	c.2661C>T	c.(2659-2661)ttC>ttT	p.F887F	Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		887					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GGGGCACCGAGAAGGAAGTTT	0.473																																																	0													154.0	151.0	152.0					7																	139791674		1912	4128	6040	SO:0001819	synonymous_variant	80853																														ENST00000397560.2:c.2661C>T	7.37:g.139791674G>A			A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Silent	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.F887	ENST00000397560.2	37	c.2661	CCDS43658.1	7																																																																																			JHDM1D	-	NULL		0.473	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JHDM1D	HGNC	protein_coding	OTTHUMT00000348460.1	G			139791674	-1	no_errors	ENST00000397560	ensembl	human	known	70_37	silent	SNP	0.975	A
KIAA0195	9772	genome.wustl.edu	37	17	73481598	73481598	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:73481598C>T	ENST00000314256.7	+	3	508	c.114C>T	c.(112-114)ctC>ctT	p.L38L	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.L48L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	38						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGGACATCTCAGGGAGCGGA	0.647																																																	0													102.0	100.0	101.0					17																	73481598		2203	4300	6503	SO:0001819	synonymous_variant	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.114C>T	17.37:g.73481598C>T			O75536|Q86XF1	Silent	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.L38	ENST00000314256.7	37	c.114	CCDS32732.1	17																																																																																			KIAA0195	-	NULL		0.647	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	C	NM_014738		73481598	+1	no_errors	ENST00000314256	ensembl	human	known	70_37	silent	SNP	1.000	T
KIAA0195	9772	genome.wustl.edu	37	17	73482023	73482023	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:73482023C>T	ENST00000314256.7	+	4	610	c.216C>T	c.(214-216)ctC>ctT	p.L72L	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.L82L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	72						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCCTCACTCATGCTACTGG	0.662																																																	0													25.0	24.0	24.0					17																	73482023		2203	4300	6503	SO:0001819	synonymous_variant	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.216C>T	17.37:g.73482023C>T			O75536|Q86XF1	Silent	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.L72	ENST00000314256.7	37	c.216	CCDS32732.1	17																																																																																			KIAA0195	-	NULL		0.662	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	C	NM_014738		73482023	+1	no_errors	ENST00000314256	ensembl	human	known	70_37	silent	SNP	0.940	T
KIAA1804	84451	genome.wustl.edu	37	1	233497990	233497990	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:233497990G>C	ENST00000366624.3	+	5	1764	c.1503G>C	c.(1501-1503)aaG>aaC	p.K501N	MLK4_ENST00000366623.3_Missense_Mutation_p.K501N	NM_032435.2	NP_115811.2																					GCAAGTTTAAGAGAAGTCGTT	0.413																																																	0													90.0	88.0	89.0					1																	233497990		2203	4300	6503	SO:0001583	missense	84451																														ENST00000366624.3:c.1503G>C	1.37:g.233497990G>C	ENSP00000355583:p.Lys501Asn			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.K501N	ENST00000366624.3	37	c.1503	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117834	0.37339	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.12774	2.65;2.65	4.82	1.94	0.25998	.	0.130532	0.48767	D	0.000162	T	0.12817	0.0311	L	0.39898	1.24	0.80722	D	1	B;B	0.28933	0.228;0.086	B;B	0.35607	0.206;0.135	T	0.08046	-1.0741	10	0.72032	D	0.01	.	7.7559	0.28923	0.4135:0.0:0.5865:0.0	.	501;501	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	N	501	ENSP00000355582:K501N;ENSP00000355583:K501N	ENSP00000355582:K501N	K	+	3	2	RP5-862P8.2	231564613	1.000000	0.71417	0.618000	0.29105	0.965000	0.64279	1.667000	0.37471	0.246000	0.21394	0.655000	0.94253	AAG	MLK4	-	pirsf_MAPKKK9/10/11		0.413	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	G			233497990	+1	no_errors	ENST00000366624	ensembl	human	known	70_37	missense	SNP	0.997	C
KLHL4	56062	genome.wustl.edu	37	X	86890703	86890703	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:86890703T>A	ENST00000373119.4	+	9	1998	c.1853T>A	c.(1852-1854)tTc>tAc	p.F618Y	KLHL4_ENST00000373114.4_Missense_Mutation_p.F618Y	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	618						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACAATGGATTCTTATATGTT	0.448																																																	0													115.0	98.0	104.0					X																	86890703		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1853T>A	X.37:g.86890703T>A	ENSP00000362211:p.Phe618Tyr		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.F618Y	ENST00000373119.4	37	c.1853	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	T	9.711	1.157066	0.21454	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.74315	-0.83;-0.83	4.23	2.89	0.33648	Galactose oxidase, beta-propeller (1);	0.260161	0.37715	N	0.001969	T	0.49898	0.1584	N	0.10945	0.07	0.39418	D	0.966863	B;B	0.12013	0.001;0.005	B;B	0.17722	0.019;0.012	T	0.27054	-1.0085	10	0.12103	T	0.63	.	8.1651	0.31222	0.2285:0.0:0.0:0.7715	.	618;618	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	Y	618	ENSP00000362211:F618Y;ENSP00000362206:F618Y	ENSP00000362206:F618Y	F	+	2	0	KLHL4	86777359	1.000000	0.71417	0.927000	0.36925	0.475000	0.33008	4.498000	0.60373	0.476000	0.27440	0.417000	0.27973	TTC	KLHL4	-	pfam_Kelch_1,smart_Kelch_1		0.448	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	T			86890703	+1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	A
KRTAP4-6	81871	genome.wustl.edu	37	17	39296450	39296450	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:39296450G>A	ENST00000345847.4	-	1	289	c.290C>T	c.(289-291)tCt>tTt	p.S97F		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	97	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAGCACACAGACTGGCAGCA	0.652																																																	0																																										SO:0001583	missense	81871			AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.290C>T	17.37:g.39296450G>A	ENSP00000328270:p.Ser97Phe		Q9BYR1	Missense_Mutation	SNP	pfam_Keratin-assoc	p.S97F	ENST00000345847.4	37	c.290	CCDS54125.1	17	.	.	.	.	.	.	.	.	.	.	.	10.66	1.411470	0.25465	.	.	ENSG00000198090	ENST00000345847	T	0.01685	4.69	3.47	0.0186	0.14117	.	2578.180000	0.00424	U	0.000075	T	0.12817	0.0311	H	0.95917	3.74	0.09310	N	1	.	.	.	.	.	.	T	0.31223	-0.9951	8	0.87932	D	0	.	7.602	0.28081	0.0:0.3392:0.4865:0.1743	.	.	.	.	F	97	ENSP00000328270:S97F	ENSP00000328270:S97F	S	-	2	0	KRTAP4-6	36549976	0.074000	0.21230	0.000000	0.03702	0.003000	0.03518	1.925000	0.40074	-0.146000	0.11274	-0.248000	0.11899	TCT	KRTAP4-6	-	NULL		0.652	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-6	HGNC	protein_coding	OTTHUMT00000257779.1	G			39296450	-1	no_errors	ENST00000345847	ensembl	human	known	70_37	missense	SNP	0.001	A
LAMB4	22798	genome.wustl.edu	37	7	107706884	107706884	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:107706884C>T	ENST00000388781.3	-	20	2691	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	LAMB4_ENST00000388780.3_Missense_Mutation_p.E870K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E870K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	870	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCACAAAGTTCAGCAAACCTA	0.493																																																	0													68.0	62.0	64.0					7																	107706884		2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2608G>A	7.37:g.107706884C>T	ENSP00000373433:p.Glu870Lys		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E870K	ENST00000388781.3	37	c.2608	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778167	0.90195	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.63417	-0.04;-0.04;-0.04	4.98	4.11	0.48088	EGF-like, laminin (3);	0.000000	0.51477	D	0.000089	T	0.61135	0.2323	L	0.55017	1.72	0.80722	D	1	P	0.47484	0.896	P	0.44772	0.46	T	0.66044	-0.6021	10	0.62326	D	0.03	.	13.5157	0.61539	0.0:0.9248:0.0:0.0752	.	870	A4D0S4	LAMB4_HUMAN	K	870	ENSP00000205386:E870K;ENSP00000373433:E870K;ENSP00000373432:E870K	ENSP00000205386:E870K	E	-	1	0	LAMB4	107494120	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	5.438000	0.66550	1.336000	0.45506	0.563000	0.77884	GAA	LAMB4	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.493	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	C	XM_209857		107706884	-1	no_errors	ENST00000205386	ensembl	human	known	70_37	missense	SNP	1.000	T
LILRA3	11026	genome.wustl.edu	37	19	54803494	54803494	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:54803494G>T	ENST00000251390.3	-	3	421	c.330C>A	c.(328-330)agC>agA	p.S110R	LILRA3_ENST00000391745.1_Missense_Mutation_p.S127R|LILRA3_ENST00000391744.3_Missense_Mutation_p.S110R	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	110					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTCACTGCTCTCTGAGA	0.607																																																	0													61.0	58.0	59.0					19																	54803494		2194	4149	6343	SO:0001583	missense	11026			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.330C>A	19.37:g.54803494G>T	ENSP00000251390:p.Ser110Arg		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.S110R	ENST00000251390.3	37	c.330	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	G	2.551	-0.304065	0.05495	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.12672	2.66;2.66;2.66	2.5	1.4	0.22301	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.642600	0.01358	N	0.012158	T	0.06600	0.0169	N	0.02665	-0.54	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.16289	0.013;0.015	T	0.29397	-1.0013	10	0.23891	T	0.37	.	7.1915	0.25828	0.0:0.2792:0.7208:0.0	.	110;110	E7EU74;Q8N6C8	.;LIRA3_HUMAN	R	110;110;127	ENSP00000251390:S110R;ENSP00000375624:S110R;ENSP00000375625:S127R	ENSP00000251390:S110R	S	-	3	2	LILRA3	59495306	0.002000	0.14202	0.038000	0.18304	0.021000	0.10359	-0.753000	0.04792	0.398000	0.25338	0.485000	0.47835	AGC	LILRA3	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.607	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	G			54803494	-1	no_errors	ENST00000251390	ensembl	human	known	70_37	missense	SNP	0.224	T
SACM1L	22908	genome.wustl.edu	37	3	45730581	45730581	+	5'Flank	SNP	C	C	T	rs531637941	byFrequency	TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:45730581C>T	ENST00000389061.5	+	0	0				LIMD1-AS1_ENST00000427644.1_RNA|SACM1L_ENST00000418611.1_5'Flank|SACM1L_ENST00000541314.1_5'Flank|LIMD1-AS1_ENST00000429798.1_RNA|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTAAAGCCTTCTCCGTGATAG	0.567													C|||	4	0.000798722	0.0	0.0	5008	,	,		17163	0.0		0.0	False		,,,				2504	0.0041																0													54.0	47.0	49.0					3																	45730581		692	1591	2283	SO:0001631	upstream_gene_variant	644714			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653		3.37:g.45730581C>T	Exception_encountered		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	RNA	SNP	-	NULL	ENST00000389061.5	37	NULL	CCDS33745.1	3																																																																																			LIMD1-AS1	-	-		0.567	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1-AS1	HGNC	protein_coding	OTTHUMT00000345065.2	C	NM_014016		45730581	-1	no_errors	ENST00000429798	ensembl	human	known	70_37	rna	SNP	0.000	T
LMOD2	442721	genome.wustl.edu	37	7	123303077	123303077	+	Missense_Mutation	SNP	G	G	C	rs78874923		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:123303077G>C	ENST00000458573.2	+	2	1594	c.1437G>C	c.(1435-1437)aaG>aaC	p.K479N	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	479	Poly-Lys.					cytoskeleton (GO:0005856)		p.K479N(1)									GACAAAAAAAGAAAAAAGGGA	0.398																																																	1	Substitution - Missense(1)	endometrium(1)											45.0	43.0	44.0					7																	123303077		1803	4015	5818	SO:0001583	missense	442721			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1437G>C	7.37:g.123303077G>C	ENSP00000411932:p.Lys479Asn		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	pfam_Tropomodulin,pfscan_WH2_dom	p.K479N	ENST00000458573.2	37	c.1437	CCDS47693.1	7	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266815	0.59540	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	T	0.46063	0.88	5.1	5.1	0.69264	.	.	.	.	.	T	0.53834	0.1821	L	0.56769	1.78	0.80722	D	1	D	0.64830	0.994	P	0.57911	0.829	T	0.54820	-0.8236	9	0.56958	D	0.05	.	12.2753	0.54730	0.0786:0.0:0.9214:0.0	.	479	Q6P5Q4	LMOD2_HUMAN	N	479;439;430	ENSP00000411932:K479N	ENSP00000405123:K430N	K	+	3	2	LMOD2	123090313	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.540000	0.60664	2.536000	0.85505	0.591000	0.81541	AAG	LMOD2	-	NULL		0.398	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD2	HGNC	protein_coding	OTTHUMT00000348525.1	G			123303077	+1	no_errors	ENST00000458573	ensembl	human	known	70_37	missense	SNP	1.000	C
ADAMTSL4	54507	genome.wustl.edu	37	1	150523265	150523265	+	Intron	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:150523265G>A	ENST00000271643.4	+	2	152				ADAMTSL4_ENST00000483335.1_3'UTR|ADAMTSL4_ENST00000369038.2_5'Flank|AL356356.1_ENST00000538795.1_Missense_Mutation_p.R65H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Intron|ADAMTSL4_ENST00000369039.5_Intron|MIR4257_ENST00000581735.1_RNA	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4						apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCCTGAGGCGCCCGCTCTGG	0.652																																																	0																																										SO:0001627	intron_variant	100996516			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000271643.4:c.-85+894G>A	1.37:g.150523265G>A			B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	NULL	p.R65H	ENST00000271643.4	37	c.194	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033723	0.35893	.	.	ENSG00000225996	ENST00000538795	.	.	.	3.12	1.16	0.20824	.	.	.	.	.	T	0.19485	0.0468	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.30297	-0.9983	5	0.87932	D	0	.	3.5861	0.07972	0.1386:0.0:0.6169:0.2444	.	.	.	.	H	65	.	ENSP00000437481:R65H	R	+	2	0	AL356356.1	148789889	0.004000	0.15560	0.001000	0.08648	0.010000	0.07245	1.070000	0.30653	0.078000	0.16900	-0.258000	0.10820	CGC	AL356356.1	-	NULL		0.652	ADAMTSL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100996516	Clone_based_ensembl_gene	protein_coding		G	NM_019032		150523265	+1	no_errors	ENST00000538795	ensembl	human	known	70_37	missense	SNP	0.009	A
RP11-146E13.4	0	genome.wustl.edu	37	14	19855145	19855145	+	lincRNA	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:19855145C>T	ENST00000548109.1	+	0	72																											TAGCCCTCAGCGCAATCGGGG	0.547																																																	0																																												101060483																															14.37:g.19855145C>T				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-		0.547	RP11-146E13.4-001	KNOWN	basic	lincRNA	LOC101060483	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1	C			19855145	-1	no_errors	ENST00000551334	ensembl	human	known	70_37	rna	SNP	1.000	T
LONP2	83752	genome.wustl.edu	37	16	48385529	48385529	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:48385529G>C	ENST00000285737.4	+	15	2468	c.2375G>C	c.(2374-2376)aGa>aCa	p.R792T	LONP2_ENST00000535754.1_Missense_Mutation_p.R748T|LONP2_ENST00000564259.1_3'UTR	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCGGCACACAGAGCGGGACTG	0.453																																																	0													68.0	71.0	70.0					16																	48385529		2200	4300	6500	SO:0001583	missense	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2375G>C	16.37:g.48385529G>C	ENSP00000285737:p.Arg792Thr			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.R792T	ENST00000285737.4	37	c.2375	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.326517	0.95708	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.39997	1.05;1.05	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.043141	0.85682	D	0.000000	T	0.76463	0.3991	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82151	-0.0599	10	0.87932	D	0	-24.9095	20.3938	0.98981	0.0:0.0:1.0:0.0	.	748;792	B7ZKL7;Q86WA8	.;LONP2_HUMAN	T	792;521;748	ENSP00000285737:R792T;ENSP00000445426:R748T	ENSP00000285737:R792T	R	+	2	0	LONP2	46943030	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.827000	0.99397	2.831000	0.97527	0.585000	0.79938	AGA	LONP2	-	pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Pept_S16_lon		0.453	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	G	NM_031490		48385529	+1	no_errors	ENST00000285737	ensembl	human	known	70_37	missense	SNP	1.000	C
LRRC19	64922	genome.wustl.edu	37	9	26995626	26995626	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:26995626C>T	ENST00000380055.5	-	5	1116	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	336						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		GTAGTTTCTTCAGAGTTTGTT	0.328																																																	0													112.0	115.0	114.0					9																	26995626		2203	4300	6503	SO:0001583	missense	64922			AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.1006G>A	9.37:g.26995626C>T	ENSP00000369395:p.Glu336Lys		A0AV00|B9EG91	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E336K	ENST00000380055.5	37	c.1006	CCDS6518.1	9	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465668	0.43839	.	.	ENSG00000184434	ENST00000380055	T	0.50813	0.73	5.55	3.69	0.42338	.	0.326552	0.26792	N	0.022470	T	0.31702	0.0805	N	0.24115	0.695	0.32401	N	0.551987	B	0.10296	0.003	B	0.08055	0.003	T	0.30238	-0.9985	10	0.51188	T	0.08	-4.1638	8.5557	0.33480	0.0:0.7314:0.1263:0.1423	.	336	Q9H756	LRC19_HUMAN	K	336	ENSP00000369395:E336K	ENSP00000369395:E336K	E	-	1	0	LRRC19	26985626	0.995000	0.38212	0.922000	0.36590	0.798000	0.45092	1.199000	0.32235	0.694000	0.31654	0.585000	0.79938	GAA	LRRC19	-	NULL		0.328	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC19	HGNC	protein_coding	OTTHUMT00000051961.2	C	NM_022901		26995626	-1	no_errors	ENST00000380055	ensembl	human	known	70_37	missense	SNP	0.904	T
LRRFIP1	9208	genome.wustl.edu	37	2	238662113	238662113	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:238662113G>C	ENST00000392000.4	+	8	762	c.645G>C	c.(643-645)gaG>gaC	p.E215D	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.E191D|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E343D|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E159D	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	215					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTACGAAGAGAAAAACAAAG	0.438																																																	0													95.0	97.0	97.0					2																	238662113		2203	4300	6503	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.645G>C	2.37:g.238662113G>C	ENSP00000375857:p.Glu215Asp		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr	p.E215D	ENST00000392000.4	37	c.645	CCDS46552.1	2	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487951	0.44249	.	.	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000392000	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.64	3.84	0.44239	.	0.330011	0.34223	N	0.004146	T	0.47021	0.1423	L	0.56280	1.765	0.52099	D	0.999945	B;B;B;B;B	0.30511	0.005;0.174;0.151;0.282;0.005	B;B;B;B;B	0.36766	0.019;0.22;0.232;0.22;0.052	T	0.36962	-0.9726	10	0.35671	T	0.21	-35.5843	6.4732	0.22020	0.2124:0.135:0.6526:0.0	.	159;159;215;191;343	B4DPC0;Q32MZ4-3;Q32MZ4;Q32MZ4-2;E9PGZ2	.;.;LRRF1_HUMAN;.;.	D	343;159;333;191;215	ENSP00000310109:E343D;ENSP00000289175:E159D;ENSP00000244815:E191D;ENSP00000375857:E215D	ENSP00000244815:E191D	E	+	3	2	LRRFIP1	238326852	0.768000	0.28519	0.989000	0.46669	0.933000	0.57130	-0.162000	0.10012	0.848000	0.35191	0.650000	0.86243	GAG	LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr		0.438	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000317198.1	G	NM_004735		238662113	+1	no_errors	ENST00000392000	ensembl	human	known	70_37	missense	SNP	0.998	C
MAGEA6	4105	genome.wustl.edu	37	X	151869985	151869985	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:151869985G>A	ENST00000329342.5	+	3	900	c.675G>A	c.(673-675)ctG>ctA	p.L225L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	225	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGAGCTGAGTGTGTTAG	0.507																																																	0													158.0	154.0	156.0					X																	151869985		2202	4298	6500	SO:0001819	synonymous_variant	4105				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.675G>A	X.37:g.151869985G>A			A8IF93|Q6NW44	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L225	ENST00000329342.5	37	c.675	CCDS14708.1	X																																																																																			MAGEA6	-	pfam_MAGE,pfscan_MAGE		0.507	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA6	HGNC	protein_coding	OTTHUMT00000058747.2	G	NM_005363		151869985	+1	no_errors	ENST00000329342	ensembl	human	known	70_37	silent	SNP	0.046	A
MAP3K5	4217	genome.wustl.edu	37	6	136960726	136960726	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:136960726G>A	ENST00000359015.4	-	13	2249	c.1889C>T	c.(1888-1890)tCt>tTt	p.S630F	RP3-325F22.3_ENST00000432477.1_RNA|MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	630					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAAATCATCAGAATTGTGAAG	0.299																																																	0													62.0	60.0	61.0					6																	136960726		2202	4293	6495	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1889C>T	6.37:g.136960726G>A	ENSP00000351908:p.Ser630Phe		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S630F	ENST00000359015.4	37	c.1889	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461926	0.84425	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.72394	-0.65	5.57	5.57	0.84162	.	0.216136	0.48767	D	0.000162	T	0.80014	0.4546	M	0.88031	2.925	0.80722	D	1	P;D	0.55385	0.918;0.971	P;P	0.52159	0.655;0.691	D	0.84130	0.0411	10	0.72032	D	0.01	.	18.3202	0.90236	0.0:0.0:1.0:0.0	.	710;630	Q59GL6;Q99683	.;M3K5_HUMAN	F	630;710	ENSP00000351908:S630F	ENSP00000351908:S630F	S	-	2	0	MAP3K5	137002419	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.346000	0.90060	2.620000	0.88729	0.561000	0.74099	TCT	MAP3K5	-	NULL		0.299	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	G			136960726	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	A
MAPK8IP1	9479	genome.wustl.edu	37	11	45919684	45919684	+	Silent	SNP	G	G	A	rs190170522		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:45919684G>A	ENST00000241014.2	+	2	320	c.150G>A	c.(148-150)tcG>tcA	p.S50S	MAPK8IP1_ENST00000395629.2_Silent_p.S40S	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	50					JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AAGACCTCTCGGAGATCACTG	0.557																																																	0													141.0	108.0	119.0					11																	45919684		2203	4299	6502	SO:0001819	synonymous_variant	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.150G>A	11.37:g.45919684G>A			D3DQP4|O43407	Silent	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.S50	ENST00000241014.2	37	c.150	CCDS7916.1	11																																																																																			MAPK8IP1	-	NULL		0.557	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP1	HGNC	protein_coding	OTTHUMT00000259405.1	G	NM_005456		45919684	+1	no_errors	ENST00000241014	ensembl	human	known	70_37	silent	SNP	0.076	A
MAPKBP1	23005	genome.wustl.edu	37	15	42067565	42067565	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:42067565G>A	ENST00000456763.2	+	2	288	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R31Q|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R31Q|RP11-107F6.3_ENST00000562063.1_lincRNA|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R31Q	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	31										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAGGAAACCGACGAGAGGAC	0.517																																																	0													100.0	87.0	92.0					15																	42067565		2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.92G>A	15.37:g.42067565G>A	ENSP00000393099:p.Arg31Gln		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R31Q	ENST00000456763.2	37	c.92	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660687	0.47572	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535	T;T;T;T;T	0.57595	1.17;1.39;1.22;1.32;0.39	6.13	6.13	0.99165	.	0.470006	0.20434	N	0.092419	T	0.37320	0.0999	N	0.22421	0.69	0.80722	D	1	P;P;P	0.52842	0.661;0.956;0.935	B;B;B	0.40982	0.078;0.16;0.345	T	0.10314	-1.0635	10	0.27785	T	0.31	-17.4123	11.6394	0.51224	0.0799:0.0:0.9201:0.0	.	31;31;31	O60336-2;O60336;O60336-6	.;MABP1_HUMAN;.	Q	31	ENSP00000397570:R31Q;ENSP00000221214:R31Q;ENSP00000393099:R31Q;ENSP00000426154:R31Q;ENSP00000422132:R31Q	ENSP00000221214:R31Q	R	+	2	0	MAPKBP1	39854857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.481000	0.53179	2.932000	0.99384	0.644000	0.83932	CGA	MAPKBP1	-	NULL		0.517	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	G	NM_014994		42067565	+1	no_errors	ENST00000456763	ensembl	human	known	70_37	missense	SNP	1.000	A
MC3R	4159	genome.wustl.edu	37	20	54823970	54823970	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr20:54823970C>T	ENST00000243911.2	+	1	183	c.71C>T	c.(70-72)cCt>cTt	p.P24L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	24					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTCCAAGCCCCTTTCTTCAGC	0.567																																																	0													118.0	115.0	116.0					20																	54823970		2203	4300	6503	SO:0001583	missense	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.71C>T	20.37:g.54823970C>T	ENSP00000243911:p.Pro24Leu		Q4KN27|Q9H517	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.P24L	ENST00000243911.2	37	c.71	CCDS13449.2	20	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832924	0.16820	.	.	ENSG00000124089	ENST00000243911	T	0.37411	1.2	5.01	1.96	0.26148	.	0.587333	0.14800	N	0.297706	T	0.15176	0.0366	N	0.08118	0	0.09310	N	0.999997	B	0.20887	0.049	B	0.16722	0.016	T	0.26258	-1.0108	10	0.07030	T	0.85	.	8.8753	0.35340	0.0:0.702:0.0:0.298	.	61	P41968	MC3R_HUMAN	L	24	ENSP00000243911:P24L	ENSP00000243911:P24L	P	+	2	0	MC3R	54257377	0.003000	0.15002	0.183000	0.23137	0.419000	0.31324	1.872000	0.39549	1.090000	0.41315	0.650000	0.86243	CCT	MC3R	-	prints_Mcort_3_rcpt		0.567	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	HGNC	protein_coding	OTTHUMT00000079786.2	C			54823970	+1	no_errors	ENST00000243911	ensembl	human	known	70_37	missense	SNP	0.084	T
Unknown	0	genome.wustl.edu	37	17	20493306	20493306	+	IGR	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:20493306G>T								CDRT15L2 (9082 upstream) : AC087499.10 (22918 downstream)																							AGTTCTGGTGGAGAAGATGAG	0.622																																																	0																																										SO:0001628	intergenic_variant	257468																															17.37:g.20493306G>T				RNA	SNP	-	NULL		37	NULL		17																																																																																			MEIS3P2	-	-	0	0.622					MEIS3P2	HGNC			G			20493306	+1	no_errors	ENST00000340731	ensembl	human	known	70_37	rna	SNP	0.986	T
MID2	11043	genome.wustl.edu	37	X	107084146	107084146	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:107084146C>G	ENST00000262843.6	+	2	799	c.251C>G	c.(250-252)tCg>tGg	p.S84W	MID2_ENST00000443968.2_Missense_Mutation_p.S84W	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	84					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TATGTTATCTCGCTGAACCAC	0.512																																																	0													127.0	106.0	113.0					X																	107084146		2203	4300	6503	SO:0001583	missense	11043				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.251C>G	X.37:g.107084146C>G	ENSP00000262843:p.Ser84Trp		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S84W	ENST00000262843.6	37	c.251	CCDS14532.2	X	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789290	0.70337	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	T;T;T	0.19105	2.17;2.17;2.17	5.95	5.95	0.96441	Zinc finger, RING/FYVE/PHD-type (1);	0.188583	0.48286	D	0.000194	T	0.39064	0.1064	L	0.45137	1.4	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.67382	0.951;0.85	T	0.07158	-1.0787	10	0.66056	D	0.02	.	16.511	0.84284	0.0:1.0:0.0:0.0	.	84;84	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	W	64;84;84	ENSP00000410730:S64W;ENSP00000262843:S84W;ENSP00000413976:S84W	ENSP00000262843:S84W	S	+	2	0	MID2	106970802	1.000000	0.71417	0.955000	0.39395	0.911000	0.54048	7.818000	0.86416	2.506000	0.84524	0.600000	0.82982	TCG	MID2	-	NULL		0.512	MID2-001	KNOWN	basic|CCDS	protein_coding	MID2	HGNC	protein_coding	OTTHUMT00000057852.2	C	NM_012216		107084146	+1	no_errors	ENST00000262843	ensembl	human	known	70_37	missense	SNP	1.000	G
MLH3	27030	genome.wustl.edu	37	14	75515090	75515090	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:75515090C>T	ENST00000556740.1	-	1	1304	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	MLH3_ENST00000556257.1_Silent_p.Q423Q|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Silent_p.Q423Q|MLH3_ENST00000238662.7_Silent_p.Q423Q|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	423					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCCTAGAACTCTGTGTGTTTA	0.353								Mismatch excision repair (MMR)																																									0													67.0	62.0	64.0					14																	75515090		2203	4300	6503	SO:0001819	synonymous_variant	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1269G>A	14.37:g.75515090C>T			P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.Q423	ENST00000556740.1	37	c.1269	CCDS32123.1	14																																																																																			MLH3	-	NULL		0.353	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	C	NM_014381		75515090	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	silent	SNP	0.974	T
MRPL40	64976	genome.wustl.edu	37	22	19423532	19423532	+	3'UTR	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr22:19423532G>A	ENST00000333130.3	+	0	1321				MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40						anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GAGTAGGAATGACCAGGGTTC	0.408																																																	0													36.0	34.0	34.0					22																	19423532		2203	4299	6502	SO:0001624	3_prime_UTR_variant	64976			AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"""Mitochondrial ribosomal proteins / large subunits"""	14491	protein-coding gene	gene with protein product		605089	"""nuclear localization signal deleted in velocardiofacial syndrome"""	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.*47G>A	22.37:g.19423532G>A			B3KVZ7|O95134	RNA	SNP	-	NULL	ENST00000333130.3	37	NULL	CCDS13760.1	22																																																																																			MRPL40	-	-		0.408	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL40	HGNC	protein_coding	OTTHUMT00000316491.2	G	NM_003776		19423532	+1	no_errors	ENST00000471259	ensembl	human	putative	70_37	rna	SNP	0.000	A
MS4A6A	64231	genome.wustl.edu	37	11	59940572	59940572	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:59940572G>T	ENST00000530839.1	-	7	1072	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	MS4A6A_ENST00000412309.2_Missense_Mutation_p.L222M|MS4A6A_ENST00000533023.1_Missense_Mutation_p.S95Y|MS4A6A_ENST00000529054.1_Missense_Mutation_p.L222M|MS4A6A_ENST00000323961.3_Missense_Mutation_p.L194M|MS4A6A_ENST00000528851.1_Missense_Mutation_p.L194M|MS4A6A_ENST00000426738.2_Missense_Mutation_p.L149M|MS4A6A_ENST00000420732.2_Missense_Mutation_p.S159Y	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	194						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTCCAGCAGAGTGCAAATC	0.502																																																	0													153.0	138.0	143.0					11																	59940572		2201	4295	6496	SO:0001583	missense	64231			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.580C>A	11.37:g.59940572G>T	ENSP00000436979:p.Leu194Met		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.L194M	ENST00000530839.1	37	c.580	CCDS7981.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.890|9.890	1.203941|1.203941	0.22121|0.22121	.|.	.|.	ENSG00000110077|ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000530839;ENST00000533989;ENST00000529054;ENST00000426738;ENST00000412309|ENST00000420732;ENST00000533023	T;T;T;T;T;T|T;T	0.02525|0.27720	4.26;4.26;4.26;4.26;4.26;4.26|2.95;1.65	4.51|4.51	-4.23|-4.23	0.03789|0.03789	.|.	0.723058|.	0.12685|.	N|.	0.447619|.	T|T	0.09642|0.09642	0.0237|0.0237	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P;P;B;P|B	0.40731|0.23735	0.728;0.513;0.425;0.728|0.09	P;B;P;P|B	0.46758|0.26693	0.526;0.392;0.526;0.526|0.072	T|T	0.31336|0.31336	-0.9947|-0.9947	9|8	0.45353|0.02654	T|T	0.12|1	.|.	3.7269|3.7269	0.08478|0.08478	0.114:0.3841:0.3456:0.1563|0.114:0.3841:0.3456:0.1563	.|.	149;222;222;194|159	E7EMT7;F8W9K1;E9PSA9;Q9H2W1|Q9H2W1-3	.;.;.;M4A6A_HUMAN|.	M|Y	194;194;194;94;222;149;222|159;95	ENSP00000315878:L194M;ENSP00000431901:L194M;ENSP00000436979:L194M;ENSP00000435844:L222M;ENSP00000392770:L149M;ENSP00000403212:L222M|ENSP00000392921:S159Y;ENSP00000436172:S95Y	ENSP00000315878:L194M|ENSP00000392921:S159Y	L|S	-|-	1|2	2|0	MS4A6A|MS4A6A	59697148|59697148	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.008000|-1.008000	0.03663|0.03663	-0.981000|-0.981000	0.03520|0.03520	-0.782000|-0.782000	0.03352|0.03352	CTG|TCT	MS4A6A	-	pfam_CD20-like		0.502	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6A	HGNC	protein_coding	OTTHUMT00000393848.1	G			59940572	-1	no_errors	ENST00000323961	ensembl	human	known	70_37	missense	SNP	0.000	T
MT-ND5	4540	genome.wustl.edu	37	M	13288	13288	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrM:13288G>A	ENST00000361567.2	+	1	952	c.952G>A	c.(952-954)Ggc>Agc	p.G318S	MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	318					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TAGTTACAATCGGCATCAACC	0.458																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.952G>A	M.37:g.13288G>A	ENSP00000354813:p.Gly318Ser		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.G318S	ENST00000361567.2	37	c.952		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.458	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		13288	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	A
MUC16	94025	genome.wustl.edu	37	19	9082960	9082960	+	Nonsense_Mutation	SNP	G	G	C	rs201674472		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:9082960G>C	ENST00000397910.4	-	1	9058	c.8855C>G	c.(8854-8856)tCa>tGa	p.S2952*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2953	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						TGATTGAAATGAGCTTGCACT	0.507																																																	0													129.0	122.0	124.0					19																	9082960		1979	4182	6161	SO:0001587	stop_gained	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.8855C>G	19.37:g.9082960G>C	ENSP00000381008:p.Ser2952*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S2952*	ENST00000397910.4	37	c.8855	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	50	17.289714	0.99883	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.723	0.723	0.18231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2952	.	ENSP00000381008:S2952X	S	-	2	0	MUC16	8943960	0.000000	0.05858	0.008000	0.14137	0.606000	0.37113	-1.126000	0.03254	0.669000	0.31146	0.298000	0.19748	TCA	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9082960	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	nonsense	SNP	0.010	C
MUC4	4585	genome.wustl.edu	37	3	195506863	195506863	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:195506863G>A	ENST00000463781.3	-	2	12047	c.11588C>T	c.(11587-11589)tCc>tTc	p.S3863F	MUC4_ENST00000475231.1_Missense_Mutation_p.S3863F|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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)		GGATGCTGAGGAAGGGCTAGT	0.582																																																	0													7.0	8.0	8.0					3																	195506863		548	1494	2042	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	ENST00000463781.3:c.11588C>T	3.37:g.195506863G>A	ENSP00000417498:p.Ser3863Phe		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.S3863F	ENST00000463781.3	37	c.11588	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	8.773	0.926328	0.18056	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.51071	0.72;0.82	.	.	.	.	.	.	.	.	T	0.34774	0.0909	N	0.19112	0.55	0.22842	N	0.998665	D	0.54964	0.969	P	0.49361	0.608	T	0.18147	-1.0346	7	.	.	.	.	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	3735	E7ESK3	.	F	3863	ENSP00000417498:S3863F;ENSP00000420243:S3863F	.	S	-	2	0	MUC4	196991642	0.001000	0.12720	0.015000	0.15790	0.015000	0.08874	0.528000	0.23002	0.064000	0.16427	0.064000	0.15345	TCC	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195506863	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.947	A
MYBPC1	4604	genome.wustl.edu	37	12	102025848	102025848	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:102025848G>A	ENST00000550270.1	+	6	413	c.413G>A	c.(412-414)gGa>gAa	p.G138E	MYBPC1_ENST00000553190.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G125E|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G124E|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G163E|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G112E|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G126E|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G39E|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G163E|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000549145.1_Missense_Mutation_p.G151E			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	138	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AACTTTGCAGGAAATTACAGA	0.383																																																	0													124.0	119.0	121.0					12																	102025848		2203	4300	6503	SO:0001583	missense	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.413G>A	12.37:g.102025848G>A	ENSP00000449702:p.Gly138Glu		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G163E	ENST00000550270.1	37	c.488	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655765	0.88056	.	.	ENSG00000196091	ENST00000550514;ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000142	D	0.89615	0.6766	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D	0.90351	0.4366	10	0.87932	D	0	.	19.8108	0.96545	0.0:0.0:1.0:0.0	.	138;126;138;138;125;112;138;138;163;163;151	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	E	39;112;138;138;138;125;124;163;151;138;163;138;138;126;163;39;138	ENSP00000447404:G39E;ENSP00000448175:G112E;ENSP00000400908:G138E;ENSP00000388989:G138E;ENSP00000353822:G138E;ENSP00000376665:G125E;ENSP00000447362:G124E;ENSP00000354845:G163E;ENSP00000447660:G151E;ENSP00000447900:G138E;ENSP00000440034:G138E;ENSP00000446128:G138E;ENSP00000442847:G126E;ENSP00000354849:G163E;ENSP00000447116:G39E;ENSP00000449702:G138E	ENSP00000353822:G138E	G	+	2	0	MYBPC1	100549979	1.000000	0.71417	0.997000	0.53966	0.537000	0.34900	9.869000	0.99810	2.698000	0.92095	0.563000	0.77884	GGA	MYBPC1	-	pfam_Ig_I-set,smart_Ig_sub		0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	G			102025848	+1	no_errors	ENST00000361466	ensembl	human	known	70_37	missense	SNP	1.000	A
NAV2	89797	genome.wustl.edu	37	11	20005703	20005703	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:20005703C>A	ENST00000396087.3	+	12	2846	c.2747C>A	c.(2746-2748)aCc>aAc	p.T916N	NAV2_ENST00000527559.2_Missense_Mutation_p.T845N|NAV2-AS3_ENST00000534036.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.T893N|NAV2_ENST00000540292.1_Missense_Mutation_p.T847N|NAV2_ENST00000396085.1_Missense_Mutation_p.T893N|NAV2_ENST00000360655.4_Missense_Mutation_p.T829N	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	916					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GGCCTCTATACCCGTCGCCTG	0.527																																																	0													143.0	136.0	139.0					11																	20005703		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2747C>A	11.37:g.20005703C>A	ENSP00000379396:p.Thr916Asn		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.T916N	ENST00000396087.3	37	c.2747	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809729	0.90707	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.35421	1.31;1.42;1.42;1.42;1.33;1.32	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	T	0.50326	0.1609	L	0.38175	1.15	0.80722	D	1	P;D	0.76494	0.537;0.999	B;D	0.66979	0.321;0.948	T	0.28681	-1.0036	9	.	.	.	.	18.8669	0.92296	0.0:1.0:0.0:0.0	.	893;829	Q8IVL1-3;Q8IVL1-4	.;.	N	829;893;893;916;845;847	ENSP00000353871:T829N;ENSP00000379394:T893N;ENSP00000309577:T893N;ENSP00000379396:T916N;ENSP00000435395:T845N;ENSP00000443489:T847N	.	T	+	2	0	NAV2	19962279	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.801000	0.75170	2.824000	0.97209	0.655000	0.94253	ACC	NAV2	-	NULL		0.527	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		20005703	+1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152432303	152432303	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:152432303C>G	ENST00000172853.10	-	79	11963	c.11816G>C	c.(11815-11817)aGa>aCa	p.R3939T	NEB_ENST00000603639.1_Missense_Mutation_p.R5640T|NEB_ENST00000604864.1_Missense_Mutation_p.R5640T|NEB_ENST00000427231.2_Missense_Mutation_p.R5640T|NEB_ENST00000409198.1_Missense_Mutation_p.R3939T|NEB_ENST00000397345.3_Missense_Mutation_p.R5640T			P20929	NEBU_HUMAN	nebulin	3939					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAAACCTCTCTGTACTTTGG	0.333																																																	0													266.0	259.0	261.0					2																	152432303		1813	4077	5890	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11816G>C	2.37:g.152432303C>G	ENSP00000172853:p.Arg3939Thr		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R5640T	ENST00000172853.10	37	c.16919		2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476917	0.44044	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000413693;ENST00000172853	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	6.06	6.06	0.98353	.	0.137128	0.64402	D	0.000003	T	0.57036	0.2026	L	0.28400	0.85	0.80722	D	1	B;D	0.53151	0.028;0.958	B;D	0.64687	0.1;0.928	T	0.53961	-0.8364	10	0.39692	T	0.17	.	10.5517	0.45092	0.0:0.8539:0.0:0.1461	.	3939;370	P20929;Q14215	NEBU_HUMAN;.	T	3939;5640;5640;370;3939	ENSP00000386259:R3939T;ENSP00000380505:R5640T;ENSP00000416578:R5640T;ENSP00000410961:R370T;ENSP00000172853:R3939T	ENSP00000172853:R3939T	R	-	2	0	NEB	152140549	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	1.947000	0.40293	2.882000	0.98803	0.655000	0.94253	AGA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.333	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152432303	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G
NEDD4L	23327	genome.wustl.edu	37	18	56033348	56033348	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr18:56033348G>C	ENST00000400345.3	+	21	2234	c.1951G>C	c.(1951-1953)Gag>Cag	p.E651Q	NEDD4L_ENST00000256830.9_Missense_Mutation_p.E547Q|NEDD4L_ENST00000256832.7_Missense_Mutation_p.E511Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.E623Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.E643Q|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_Missense_Mutation_p.E510Q|NEDD4L_ENST00000456986.1_Missense_Mutation_p.E530Q|NEDD4L_ENST00000382850.4_Missense_Mutation_p.E631Q|NEDD4L_ENST00000356462.6_Missense_Mutation_p.E587Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.E510Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.E530Q	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	651	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACTGTGGATTGAGTTTGAATC	0.413																																																	0													113.0	108.0	110.0					18																	56033348		1871	4109	5980	SO:0001583	missense	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1951G>C	18.37:g.56033348G>C	ENSP00000383199:p.Glu651Gln		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom	p.E651Q	ENST00000400345.3	37	c.1951	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	G	32	5.187724	0.94923	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.78003	0.88;0.88;0.88;0.88;-1.14;-1.14;0.88;-1.14;-1.14;-1.14	5.54	5.54	0.83059	HECT (3);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	L	0.46567	1.45	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.991;0.996;1.0;1.0	D;D;P;D;D;D	0.79108	0.992;0.99;0.713;0.975;0.983;0.99	D	0.86246	0.1646	10	0.87932	D	0	.	19.8487	0.96730	0.0:0.0:1.0:0.0	.	623;643;510;587;651;631	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	Q	651;631;587;547;511;530;643;510;510;530	ENSP00000383199:E651Q;ENSP00000372301:E631Q;ENSP00000348847:E587Q;ENSP00000256830:E547Q;ENSP00000256832:E511Q;ENSP00000411947:E530Q;ENSP00000350569:E643Q;ENSP00000393395:E510Q;ENSP00000405440:E510Q;ENSP00000389406:E530Q	ENSP00000256830:E547Q	E	+	1	0	NEDD4L	54184328	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.813000	0.99286	2.748000	0.94277	0.650000	0.86243	GAG	NEDD4L	-	superfamily_HECT,smart_HECT,pfscan_HECT		0.413	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	G			56033348	+1	no_errors	ENST00000400345	ensembl	human	known	70_37	missense	SNP	1.000	C
NFATC2	4773	genome.wustl.edu	37	20	50139763	50139763	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr20:50139763G>A	ENST00000396009.3	-	2	1236	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A	NFATC2_ENST00000609507.1_Silent_p.A120A|NFATC2_ENST00000414705.1_Silent_p.A319A|NFATC2_ENST00000609943.1_Silent_p.A319A|NFATC2_ENST00000371564.3_Silent_p.A339A|NFATC2_ENST00000610033.1_Silent_p.A120A	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	339					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GAGGCAGGCCGGCCTTGGATG	0.677																																																	0													33.0	43.0	40.0					20																	50139763		2200	4296	6496	SO:0001819	synonymous_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1017C>T	20.37:g.50139763G>A			B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.A339	ENST00000396009.3	37	c.1017	CCDS13437.1	20																																																																																			NFATC2	-	NULL		0.677	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	G	NM_012340		50139763	-1	no_errors	ENST00000396009	ensembl	human	known	70_37	silent	SNP	0.998	A
NID1	4811	genome.wustl.edu	37	1	236208917	236208917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:236208917C>A	ENST00000264187.6	-	3	674	c.592G>T	c.(592-594)Gag>Tag	p.E198*	NID1_ENST00000366595.3_Nonsense_Mutation_p.E198*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	198	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGACCATCCTCAGGATAAAGG	0.443																																																	0													77.0	70.0	72.0					1																	236208917		2203	4300	6503	SO:0001587	stop_gained	4811			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.592G>T	1.37:g.236208917C>A	ENSP00000264187:p.Glu198*		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Nonsense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E198*	ENST00000264187.6	37	c.592	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.878543	0.97904	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	.	.	.	5.81	4.9	0.64082	.	0.336949	0.38778	N	0.001565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.6609	0.68870	0.0:0.9304:0.0:0.0696	.	.	.	.	X	198	.	ENSP00000264187:E198X	E	-	1	0	NID1	234275540	0.996000	0.38824	0.985000	0.45067	0.980000	0.70556	1.769000	0.38522	1.465000	0.48006	0.561000	0.74099	GAG	NID1	-	pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom		0.443	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	C	NM_002508		236208917	-1	no_errors	ENST00000264187	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NIF3L1	60491	genome.wustl.edu	37	2	201761901	201761901	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:201761901C>T	ENST00000409020.1	+	5	1123	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	NIF3L1_ENST00000409588.1_Intron|RNU6-762P_ENST00000517107.1_RNA|NIF3L1_ENST00000409357.1_Missense_Mutation_p.H277Y|NIF3L1_ENST00000416651.1_Missense_Mutation_p.H277Y|NIF3L1_ENST00000359683.4_Missense_Mutation_p.H250Y			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	277					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						AAAACTATCTCATATTCGCTT	0.423																																																	0													128.0	118.0	121.0					2																	201761901		1892	4117	6009	SO:0001583	missense	60491			AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.829C>T	2.37:g.201761901C>T	ENSP00000386394:p.His277Tyr		Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3	p.H277Y	ENST00000409020.1	37	c.829	CCDS46485.1	2	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590370	0.46214	.	.	ENSG00000196290	ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.01	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	L	0.41492	1.28	0.58432	D	0.999999	B	0.09022	0.002	B	0.17722	0.019	T	0.17623	-1.0363	10	0.02654	T	1	-18.1604	15.4984	0.75677	0.0:0.9337:0.0:0.0663	.	277	Q9GZT8	NIF3L_HUMAN	Y	277;277;250;277	ENSP00000400787:H277Y;ENSP00000386394:H277Y;ENSP00000352711:H250Y;ENSP00000387315:H277Y	ENSP00000352711:H250Y	H	+	1	0	NIF3L1	201470146	0.948000	0.32251	0.733000	0.30861	0.963000	0.63663	2.164000	0.42387	1.554000	0.49487	-0.137000	0.14449	CAT	NIF3L1	-	pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3		0.423	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NIF3L1	HGNC	protein_coding	OTTHUMT00000336201.1	C	NM_021824		201761901	+1	no_errors	ENST00000409020	ensembl	human	known	70_37	missense	SNP	1.000	T
NLGN3	54413	genome.wustl.edu	37	X	70390335	70390335	+	IGR	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:70390335G>A	ENST00000358741.3	+	0	3046				NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_3'UTR|NLGN3_ENST00000536169.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3						adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CTGCACCACCGACCAACTCCA	0.517																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0																																										SO:0001628	intergenic_variant	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790		X.37:g.70390335G>A			B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	RNA	SNP	-	NULL	ENST00000358741.3	37	NULL	CCDS55441.1	X																																																																																			NLGN3	-	-		0.517	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	G	NM_018977		70390335	+1	no_errors	ENST00000476589	ensembl	human	known	70_37	rna	SNP	0.402	A
NLRP14	338323	genome.wustl.edu	37	11	7079068	7079068	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:7079068G>C	ENST00000299481.4	+	7	2798	c.2452G>C	c.(2452-2454)Gag>Cag	p.E818Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	818					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGTTATCTAGAGAGACTGTC	0.403																																																	0													209.0	185.0	193.0					11																	7079068		2201	4296	6497	SO:0001583	missense	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2452G>C	11.37:g.7079068G>C	ENSP00000299481:p.Glu818Gln		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E818Q	ENST00000299481.4	37	c.2452	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	G	0.371	-0.934090	0.02340	.	.	ENSG00000158077	ENST00000299481	T	0.17054	2.3	4.89	0.125	0.14718	.	0.327553	0.22193	N	0.063344	T	0.07593	0.0191	N	0.21240	0.645	0.20403	N	0.999902	B	0.25563	0.129	B	0.19666	0.026	T	0.39663	-0.9603	10	0.07482	T	0.82	.	6.2981	0.21097	0.1934:0.5073:0.2992:0.0	.	818	Q86W24	NAL14_HUMAN	Q	818	ENSP00000299481:E818Q	ENSP00000299481:E818Q	E	+	1	0	NLRP14	7035644	0.206000	0.23470	0.257000	0.24404	0.977000	0.68977	-0.251000	0.08818	0.153000	0.19213	0.585000	0.79938	GAG	NLRP14	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.403	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	G	NM_176822		7079068	+1	no_errors	ENST00000299481	ensembl	human	known	70_37	missense	SNP	0.192	C
NOP2	4839	genome.wustl.edu	37	12	6666539	6666539	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:6666539C>T	ENST00000322166.5	-	16	2180	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	IFFO1_ENST00000356896.4_5'Flank|NOP2_ENST00000382421.3_Missense_Mutation_p.E720K|NOP2_ENST00000545200.1_3'UTR|IFFO1_ENST00000336604.4_5'Flank|IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000399466.2_Missense_Mutation_p.E683K|NOP2_ENST00000537442.1_Missense_Mutation_p.E687K|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000541778.1_Missense_Mutation_p.E683K	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	687					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGATCCCTTCGGCTTTTCCA	0.517																																																	0													150.0	149.0	149.0					12																	6666539		2002	4187	6189	SO:0001583	missense	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.2059G>A	12.37:g.6666539C>T	ENSP00000313272:p.Glu687Lys		A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.E687K	ENST00000322166.5	37	c.2059	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	C	0.555	-0.847770	0.02651	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.14	-5.27	0.02763	.	1.867170	0.02813	N	0.124545	T	0.04907	0.0132	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34775	-0.9815	10	0.06625	T	0.88	0.288	6.2615	0.20903	0.0:0.2085:0.2606:0.5309	.	687;683	P46087;P46087-2	NOP2_HUMAN;.	K	687;720;683;687;683	ENSP00000444437:E687K;ENSP00000371858:E720K;ENSP00000382392:E683K;ENSP00000313272:E687K;ENSP00000443150:E683K	ENSP00000313272:E687K	E	-	1	0	NOP2	6536800	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.091000	0.03369	-1.150000	0.02840	-1.619000	0.00793	GAA	NOP2	-	pfam_P120R		0.517	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	C	NM_006170		6666539	-1	no_errors	ENST00000322166	ensembl	human	known	70_37	missense	SNP	0.000	T
NXF1	10482	genome.wustl.edu	37	11	62571442	62571442	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:62571442C>G	ENST00000532297.1	-	3	666	c.37G>C	c.(37-39)Gat>Cat	p.D13H	NXF1_ENST00000439713.2_Missense_Mutation_p.D13H|NXF1_ENST00000294172.2_Missense_Mutation_p.D13H|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.D13H			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	13	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACGCGTTCATCATCGTGTTCT	0.453																																																	0													102.0	107.0	105.0					11																	62571442		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.37G>C	11.37:g.62571442C>G	ENSP00000436679:p.Asp13His		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.D13H	ENST00000532297.1	37	c.37	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468976	0.84533	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.57436	0.66;0.66;0.44;0.4	4.82	4.82	0.62117	.	1.363580	0.04877	N	0.447063	T	0.70465	0.3227	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.997;0.998	T	0.57183	-0.7855	10	0.72032	D	0.01	-28.9881	15.4751	0.75471	0.0:1.0:0.0:0.0	.	56;26;13	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	H	13;13;56;13	ENSP00000294172:D13H;ENSP00000436679:D13H;ENSP00000435742:D56H;ENSP00000408864:D13H	ENSP00000294172:D13H	D	-	1	0	NXF1	62328018	0.973000	0.33851	1.000000	0.80357	0.933000	0.57130	1.247000	0.32815	2.503000	0.84419	0.655000	0.94253	GAT	NXF1	-	NULL		0.453	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62571442	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	missense	SNP	1.000	G
OBSL1	23363	genome.wustl.edu	37	2	220418361	220418361	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:220418361C>T	ENST00000404537.1	-	16	4980	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	OBSL1_ENST00000373876.1_Missense_Mutation_p.E1550K|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1642	Ig-like 13.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTGTCGCCCTCGGTCACCTCT	0.622											OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													52.0	55.0	54.0					2																	220418361		2093	4207	6300	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4924G>A	2.37:g.220418361C>T	ENSP00000385636:p.Glu1642Lys	2266	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1642K	ENST00000404537.1	37	c.4924	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990892	0.93106	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.06768	3.26;3.26	4.22	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19725	0.0474	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.06303	-1.0834	9	0.13108	T	0.6	.	15.348	0.74355	0.0:1.0:0.0:0.0	.	1642	O75147	OBSL1_HUMAN	K	1642;1550	ENSP00000385636:E1642K;ENSP00000362983:E1550K	ENSP00000362983:E1550K	E	-	1	0	OBSL1	220126605	0.999000	0.42202	0.992000	0.48379	0.980000	0.70556	4.767000	0.62286	2.198000	0.70561	0.561000	0.74099	GAG	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.622	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220418361	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.998	T
OR13C4	138804	genome.wustl.edu	37	9	107289124	107289124	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:107289124A>G	ENST00000277216.3	-	1	366	c.367T>C	c.(367-369)Tat>Cat	p.Y123H		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATGGCCACATAACGATCAAAT	0.443																																																	0													177.0	147.0	157.0					9																	107289124		2203	4300	6503	SO:0001583	missense	138804				CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.367T>C	9.37:g.107289124A>G	ENSP00000277216:p.Tyr123His		Q6IF51|Q96R41	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y123H	ENST00000277216.3	37	c.367	CCDS35088.1	9	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990013	0.35131	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.02103	4.45	4.44	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.171999	0.27787	U	0.017843	T	0.11067	0.0270	M	0.91249	3.19	0.26974	N	0.965527	D	0.63880	0.993	P	0.56960	0.81	T	0.05194	-1.0900	10	0.87932	D	0	.	8.6474	0.34013	0.8286:0.0:0.0:0.1714	.	123	Q8NGS5	O13C4_HUMAN	H	123;152	ENSP00000277216:Y123H	ENSP00000277216:Y123H	Y	-	1	0	OR13C4	106328945	0.999000	0.42202	0.129000	0.21949	0.262000	0.26303	5.983000	0.70540	0.795000	0.33922	0.477000	0.44152	TAT	OR13C4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C4	HGNC	protein_coding	OTTHUMT00000053478.1	A			107289124	-1	no_errors	ENST00000277216	ensembl	human	known	70_37	missense	SNP	0.894	G
OR4K1	79544	genome.wustl.edu	37	14	20404322	20404322	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:20404322T>C	ENST00000285600.4	+	1	556	c.497T>C	c.(496-498)cTg>cCg	p.L166P		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAGTGGACCTGCCATTCTGT	0.458																																																	0													136.0	139.0	138.0					14																	20404322		2203	4300	6503	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.497T>C	14.37:g.20404322T>C	ENSP00000285600:p.Leu166Pro		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L166P	ENST00000285600.4	37	c.497	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	16.93	3.259204	0.59321	.	.	ENSG00000155249	ENST00000285600	T	0.00301	8.21	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000448	T	0.01156	0.0038	H	0.99464	4.58	0.29183	N	0.876345	P	0.49961	0.93	P	0.56434	0.798	T	0.02805	-1.1108	10	0.87932	D	0	.	12.3562	0.55176	0.0:0.0:0.0:1.0	.	166	Q8NGD4	OR4K1_HUMAN	P	166	ENSP00000285600:L166P	ENSP00000285600:L166P	L	+	2	0	OR4K1	19474162	0.915000	0.31059	0.979000	0.43373	0.963000	0.63663	6.991000	0.76232	2.011000	0.59026	0.460000	0.39030	CTG	OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.458	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	T			20404322	+1	no_errors	ENST00000285600	ensembl	human	known	70_37	missense	SNP	0.192	C
OR6K3	391114	genome.wustl.edu	37	1	158687490	158687490	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:158687490C>T	ENST00000368146.1	-	1	463	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	OR6K3_ENST00000368145.1_Missense_Mutation_p.R139Q			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGCACAGAGCCGGGGGGTCAT	0.517																																																	0													85.0	93.0	90.0					1																	158687490		2203	4300	6503	SO:0001583	missense	391114			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.464G>A	1.37:g.158687490C>T	ENSP00000357128:p.Arg155Gln		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R155Q	ENST00000368146.1	37	c.464		1	.	.	.	.	.	.	.	.	.	.	C	5.830	0.337343	0.11013	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.01527	4.8;4.8	4.04	-3.86	0.04230	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	L	0.37561	1.115	0.09310	N	1	B	0.27166	0.17	B	0.24394	0.053	T	0.40156	-0.9578	9	0.27082	T	0.32	.	7.4801	0.27400	0.0:0.3141:0.1224:0.5636	.	155	Q8NGY3	OR6K3_HUMAN	Q	139;155	ENSP00000357127:R139Q;ENSP00000357128:R155Q	ENSP00000357127:R139Q	R	-	2	0	OR6K3	156954114	.	.	0.000000	0.03702	0.199000	0.23934	.	.	-0.731000	0.04862	-0.495000	0.04643	CGG	OR6K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.517	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		C			158687490	-1	no_errors	ENST00000368146	ensembl	human	known	70_37	missense	SNP	0.000	T
OR8I2	120586	genome.wustl.edu	37	11	55861336	55861336	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:55861336G>T	ENST00000302124.2	+	1	584	c.553G>T	c.(553-555)Gca>Tca	p.A185S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGCTCTTTTAGCACTCTCCTG	0.428																																																	0													151.0	140.0	143.0					11																	55861336		2201	4296	6497	SO:0001583	missense	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.553G>T	11.37:g.55861336G>T	ENSP00000303864:p.Ala185Ser		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A185S	ENST00000302124.2	37	c.553	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	G	6.932	0.541783	0.13250	.	.	ENSG00000172154	ENST00000302124	T	0.00069	8.77	4.33	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.187239	0.25729	N	0.028691	T	0.00109	0.0003	L	0.41906	1.305	0.09310	N	1	B	0.20550	0.046	B	0.18263	0.021	T	0.25745	-1.0123	10	0.23891	T	0.37	-7.9432	2.5085	0.04651	0.1656:0.1526:0.5251:0.1567	.	185	Q8N0Y5	OR8I2_HUMAN	S	185	ENSP00000303864:A185S	ENSP00000303864:A185S	A	+	1	0	OR8I2	55617912	0.002000	0.14202	0.064000	0.19789	0.041000	0.13682	1.553000	0.36255	0.317000	0.23160	-0.570000	0.04155	GCA	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.428	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		G	NM_001003750		55861336	+1	no_errors	ENST00000302124	ensembl	human	known	70_37	missense	SNP	0.000	T
PBRM1	55193	genome.wustl.edu	37	3	52668775	52668775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:52668775delC	ENST00000296302.7	-	11	1145	c.1144delG	c.(1144-1146)gttfs	p.V382fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.V382fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.V382fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.V350fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.V382fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.V382fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.V382fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.V382fs			Q86U86	PB1_HUMAN	polybromo 1	382					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGATTTGAAACATCCATAAAG	0.388			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													104.0	102.0	103.0					3																	52668775		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1144delG	3.37:g.52668775delC	ENSP00000296302:p.Val382fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.V382fs	ENST00000296302.7	37	c.1144		3																																																																																			PBRM1	-	superfamily_Bromodomain,smart_Bromodomain		0.388	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	C	NM_018165		52668775	-1	no_errors	ENST00000296302	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
PCDHB4	56131	genome.wustl.edu	37	5	140502130	140502130	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:140502130C>G	ENST00000194152.1	+	1	550	c.550C>G	c.(550-552)Cat>Gat	p.H184D	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTCGAAATCATAGTGAGGG	0.473																																																	0													68.0	67.0	67.0					5																	140502130		2203	4300	6503	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.550C>G	5.37:g.140502130C>G	ENSP00000194152:p.His184Asp		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H184D	ENST00000194152.1	37	c.550	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157191	0.09236	.	.	ENSG00000081818	ENST00000194152	T	0.19938	2.11	4.56	-3.66	0.04489	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.10165	0.0249	N	0.03253	-0.375	0.09310	N	1	B	0.20780	0.048	B	0.33121	0.158	T	0.45644	-0.9247	9	0.25106	T	0.35	.	11.5984	0.50988	0.5654:0.2709:0.1637:0.0	.	184	Q9Y5E5	PCDB4_HUMAN	D	184	ENSP00000194152:H184D	ENSP00000194152:H184D	H	+	1	0	PCDHB4	140482314	0.000000	0.05858	0.724000	0.30704	0.790000	0.44656	-0.945000	0.03909	-0.453000	0.07076	-0.868000	0.02995	CAT	PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.473	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	C	NM_018938		140502130	+1	no_errors	ENST00000194152	ensembl	human	known	70_37	missense	SNP	0.000	G
PDILT	204474	genome.wustl.edu	37	16	20410556	20410556	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:20410556C>T	ENST00000302451.4	-	2	315	c.67G>A	c.(67-69)Gag>Aag	p.E23K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	23					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCGTTAACCTCTGGTGAGCTG	0.597																																																	0													129.0	119.0	122.0					16																	20410556		2203	4300	6503	SO:0001583	missense	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.67G>A	16.37:g.20410556C>T	ENSP00000305465:p.Glu23Lys		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E23K	ENST00000302451.4	37	c.67	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802474	0.50315	.	.	ENSG00000169340	ENST00000302451	T	0.03580	3.88	4.21	3.26	0.37387	.	0.716506	0.13509	N	0.382636	T	0.03305	0.0096	L	0.27053	0.805	0.09310	N	1	B	0.19445	0.036	B	0.15870	0.014	T	0.36768	-0.9734	10	0.54805	T	0.06	.	8.0232	0.30421	0.0:0.8903:0.0:0.1097	.	23	Q8N807	PDILT_HUMAN	K	23	ENSP00000305465:E23K	ENSP00000305465:E23K	E	-	1	0	PDILT	20318057	0.001000	0.12720	0.120000	0.21714	0.010000	0.07245	0.921000	0.28718	1.361000	0.45981	0.591000	0.81541	GAG	PDILT	-	NULL		0.597	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	C	NM_174924		20410556	-1	no_errors	ENST00000302451	ensembl	human	known	70_37	missense	SNP	0.131	T
PFDN2	5202	genome.wustl.edu	37	1	161072116	161072116	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:161072116G>T	ENST00000368010.3	-	2	209	c.125C>A	c.(124-126)tCc>tAc	p.S42Y	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	42					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTGCTTTGGATGCCAGGCC	0.537																																																	0													119.0	101.0	107.0					1																	161072116		2203	4300	6503	SO:0001583	missense	5202			AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"""prefoldin 2"""			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.125C>A	1.37:g.161072116G>T	ENSP00000356989:p.Ser42Tyr		Q9P0P7|Q9UN05	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.S42Y	ENST00000368010.3	37	c.125	CCDS1217.1	1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742066	0.69418	.	.	ENSG00000143256	ENST00000368010	T	0.45668	0.89	5.02	5.02	0.67125	Prefoldin beta-like (1);Prefoldin (1);	0.104348	0.64402	D	0.000002	T	0.59418	0.2192	M	0.81179	2.53	0.80722	D	1	D	0.65815	0.995	D	0.68621	0.959	T	0.63611	-0.6598	10	0.62326	D	0.03	-5.7967	15.881	0.79205	0.0:0.0:1.0:0.0	.	42	Q9UHV9	PFD2_HUMAN	Y	42	ENSP00000356989:S42Y	ENSP00000356989:S42Y	S	-	2	0	PFDN2	159338740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.653000	0.83643	2.608000	0.88229	0.462000	0.41574	TCC	PFDN2	-	pfam_PFD_beta-like,superfamily_Prefoldin		0.537	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN2	HGNC	protein_coding	OTTHUMT00000077100.1	G	NM_012394		161072116	-1	no_errors	ENST00000368010	ensembl	human	known	70_37	missense	SNP	1.000	T
PHRF1	57661	genome.wustl.edu	37	11	605255	605255	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:605255C>G	ENST00000264555.5	+	11	1417	c.1289C>G	c.(1288-1290)tCt>tGt	p.S430C	PHRF1_ENST00000413872.2_Missense_Mutation_p.S429C|PHRF1_ENST00000533464.1_Missense_Mutation_p.S426C|PHRF1_ENST00000416188.2_Missense_Mutation_p.S430C	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	430					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGAGCTGCCTCTCTGTCTCTG	0.607																																																	0													81.0	89.0	86.0					11																	605255		2048	4191	6239	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1289C>G	11.37:g.605255C>G	ENSP00000264555:p.Ser430Cys		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S430C	ENST00000264555.5	37	c.1289		11	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380546	0.61845	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.85556	-2.0;-1.98;-2.0;-2.0	4.65	4.65	0.58169	.	0.203028	0.24657	N	0.036675	D	0.87752	0.6256	L	0.29908	0.895	0.49130	D	0.999756	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	P;D;D;P	0.65874	0.87;0.939;0.939;0.87	D	0.89468	0.3741	10	0.72032	D	0.01	-10.369	17.7029	0.88300	0.0:1.0:0.0:0.0	.	426;429;430;430	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	C	430;429;430;426	ENSP00000264555:S430C;ENSP00000388589:S429C;ENSP00000410626:S430C;ENSP00000431870:S426C	ENSP00000264555:S430C	S	+	2	0	PHRF1	595255	0.825000	0.29262	0.018000	0.16275	0.323000	0.28346	7.046000	0.76592	2.398000	0.81561	0.563000	0.77884	TCT	PHRF1	-	NULL		0.607	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	C	NM_020901		605255	+1	no_errors	ENST00000264555	ensembl	human	known	70_37	missense	SNP	0.922	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	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.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		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.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	A			178952085	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	T
PJA2	9867	genome.wustl.edu	37	5	108704312	108704312	+	Silent	SNP	A	A	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:108704312A>G	ENST00000361189.2	-	5	1658	c.1419T>C	c.(1417-1419)agT>agC	p.S473S	PJA2_ENST00000361557.3_Silent_p.S473S	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	473					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CACTGCTATCACTTTGTAGCT	0.398																																																	0													184.0	187.0	186.0					5																	108704312		2202	4300	6502	SO:0001819	synonymous_variant	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1419T>C	5.37:g.108704312A>G			A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S473	ENST00000361189.2	37	c.1419	CCDS4099.1	5																																																																																			PJA2	-	NULL		0.398	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	A	NM_014819		108704312	-1	no_errors	ENST00000361189	ensembl	human	known	70_37	silent	SNP	1.000	G
PLS3	5358	genome.wustl.edu	37	X	114880847	114880847	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:114880847G>A	ENST00000420625.2	+	13	1637	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	PLS3_ENST00000537301.1_Silent_p.L488L|PLS3_ENST00000355899.3_Silent_p.L501L|PLS3_ENST00000539310.1_Silent_p.L456L|PLS3_ENST00000543070.1_Silent_p.L95L|PLS3_ENST00000289290.3_Silent_p.L465L	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	501	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TCTGGCAGCTGATGAGAAGGT	0.403																																					Colon(160;1047 1864 8490 12969 29601)												0													145.0	121.0	129.0					X																	114880847		2203	4300	6503	SO:0001819	synonymous_variant	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1503G>A	X.37:g.114880847G>A			A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.L501	ENST00000420625.2	37	c.1503	CCDS14568.1	X																																																																																			PLS3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.403	PLS3-201	KNOWN	basic|CCDS	protein_coding	PLS3	HGNC	protein_coding	OTTHUMT00000057976.2	G			114880847	+1	no_errors	ENST00000355899	ensembl	human	known	70_37	silent	SNP	1.000	A
PLXNC1	10154	genome.wustl.edu	37	12	94543544	94543544	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:94543544G>T	ENST00000258526.4	+	1	1046	c.797G>T	c.(796-798)cGc>cTc	p.R266L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	266	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCATGGCGCGCATCGCGCAG	0.677																																																	0													29.0	33.0	32.0					12																	94543544		2139	4271	6410	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.797G>T	12.37:g.94543544G>T	ENSP00000258526:p.Arg266Leu		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R266L	ENST00000258526.4	37	c.797	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817397	0.50633	.	.	ENSG00000136040	ENST00000258526	T	0.06294	3.32	5.28	4.33	0.51752	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	1.522030	0.04009	N	0.297932	T	0.11153	0.0272	M	0.63843	1.955	0.80722	D	1	B	0.24426	0.103	B	0.21546	0.035	T	0.39941	-0.9589	10	0.62326	D	0.03	.	8.2816	0.31904	0.0783:0.0:0.7651:0.1566	.	266	O60486	PLXC1_HUMAN	L	266	ENSP00000258526:R266L	ENSP00000258526:R266L	R	+	2	0	PLXNC1	93067675	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.996000	0.57009	2.465000	0.83290	0.561000	0.74099	CGC	PLXNC1	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.677	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94543544	+1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	0.999	T
BGLAP	632	genome.wustl.edu	37	1	156209491	156209491	+	5'Flank	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:156209491G>A	ENST00000368272.4	+	0	0				PMF1_ENST00000368273.4_3'UTR|PMF1_ENST00000368279.3_3'UTR|PMF1_ENST00000565805.1_Intron|PMF1_ENST00000368277.3_3'UTR|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000567140.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1-BGLAP_ENST00000490491.1_Intron	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein						bone development (GO:0060348)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cell aging (GO:0007569)|cellular response to growth factor stimulus (GO:0071363)|cellular response to vitamin D (GO:0071305)|odontogenesis (GO:0042476)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of osteoclast differentiation (GO:0045670)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to hydroxyisoflavone (GO:0033594)|response to mechanical stimulus (GO:0009612)|response to testosterone (GO:0033574)|response to vitamin D (GO:0033280)|response to vitamin K (GO:0032571)|response to zinc ion (GO:0010043)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|perikaryon (GO:0043204)|rough endoplasmic reticulum (GO:0005791)	calcium ion binding (GO:0005509)|hydroxyapatite binding (GO:0046848)|structural constituent of bone (GO:0008147)|structural molecule activity (GO:0005198)			large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Gallium nitrate(DB05260)|Menadione(DB00170)|Phylloquinone(DB01022)	CGGCTGAAATGGTGCCCAGTC	0.607																																																	0																																										SO:0001631	upstream_gene_variant	11243			X04143	CCDS1134.1	1q22	2014-05-13	2008-08-01		ENSG00000242252	ENSG00000242252			1043	protein-coding gene	gene with protein product	"""osteocalcin"""	112260				2785029, 2394711	Standard	NM_199173		Approved	OCN	uc001fnt.3	P02818	OTTHUMG00000014819		1.37:g.156209491G>A	Exception_encountered		Q5TCK6	RNA	SNP	-	NULL	ENST00000368272.4	37	NULL	CCDS1134.1	1																																																																																			PMF1	-	-		0.607	BGLAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMF1	HGNC	protein_coding	OTTHUMT00000040867.2	G	NM_199173		156209491	+1	no_errors	ENST00000497069	ensembl	human	known	70_37	rna	SNP	0.000	A
PPFIA2	8499	genome.wustl.edu	37	12	81746991	81746991	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:81746991G>A	ENST00000549396.1	-	17	2061	c.1901C>T	c.(1900-1902)tCa>tTa	p.S634L	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S201L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S616L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S634L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S481L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S535L|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S634L|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S634L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S616L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S560L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	634					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAGATCCATTGAGCTAAAAAT	0.408																																																	0													190.0	180.0	183.0					12																	81746991		1924	4148	6072	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1901C>T	12.37:g.81746991G>A	ENSP00000450337:p.Ser634Leu		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S634L	ENST00000549396.1	37	c.1901	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809133	0.90707	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	M	0.73598	2.24	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.60429	-0.7265	10	0.46703	T	0.11	-11.9663	19.2605	0.93966	0.0:0.0:1.0:0.0	.	634	O75334	LIPA2_HUMAN	L	634;616;201;560;645;616;634;535;634;215	ENSP00000450337:S634L;ENSP00000450298:S616L;ENSP00000438337:S201L;ENSP00000385093:S560L;ENSP00000327416:S616L;ENSP00000449338:S634L;ENSP00000388373:S535L;ENSP00000447868:S634L;ENSP00000448941:S215L	ENSP00000327416:S616L	S	-	2	0	PPFIA2	80271122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.799000	0.99117	2.534000	0.85438	0.585000	0.79938	TCA	PPFIA2	-	NULL		0.408	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	G			81746991	-1	no_errors	ENST00000549396	ensembl	human	known	70_37	missense	SNP	1.000	A
POC1B	282809	genome.wustl.edu	37	12	89890968	89890968	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:89890968C>T	ENST00000313546.3	-	3	380	c.252G>A	c.(250-252)gtG>gtA	p.V84V	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Silent_p.V42V	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	84					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCCAGAGTCTCACGGTTCTGT	0.448																																																	0													138.0	138.0	138.0					12																	89890968		2203	4300	6503	SO:0001819	synonymous_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.252G>A	12.37:g.89890968C>T			G3V1X0	Silent	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V84	ENST00000313546.3	37	c.252	CCDS31869.1	12																																																																																			POC1B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.448	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	C	NM_172240		89890968	-1	no_errors	ENST00000313546	ensembl	human	known	70_37	silent	SNP	0.993	T
PPL	5493	genome.wustl.edu	37	16	4935649	4935649	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:4935649C>G	ENST00000345988.2	-	22	3096	c.3007G>C	c.(3007-3009)Gac>Cac	p.D1003H	PPL_ENST00000590782.2_Missense_Mutation_p.D1001H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1003					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGGGCCCTGTCAGGCTCGATG	0.687																																																	0													83.0	86.0	85.0					16																	4935649		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3007G>C	16.37:g.4935649C>G	ENSP00000340510:p.Asp1003His		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.D1003H	ENST00000345988.2	37	c.3007	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116097	0.56505	.	.	ENSG00000118898	ENST00000345988	T	0.60424	0.19	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81228	-0.1028	10	0.87932	D	0	.	18.0758	0.89426	0.0:1.0:0.0:0.0	.	1003	O60437	PEPL_HUMAN	H	1003	ENSP00000340510:D1003H	ENSP00000340510:D1003H	D	-	1	0	PPL	4875650	1.000000	0.71417	0.062000	0.19696	0.094000	0.18550	6.055000	0.71103	2.273000	0.75805	0.484000	0.47621	GAC	PPL	-	NULL		0.687	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4935649	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	0.997	G
PRPF4	9128	genome.wustl.edu	37	9	116045409	116045409	+	Intron	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:116045409C>T	ENST00000374198.4	+	5	585				PRPF4_ENST00000488937.1_3'UTR|PRPF4_ENST00000374199.4_Intron	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						ATTTGCCTTTCAGTATCAGCA	0.408																																																	0													187.0	190.0	189.0					9																	116045409		2203	4300	6503	SO:0001627	intron_variant	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.484-3C>T	9.37:g.116045409C>T			O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	RNA	SNP	-	NULL	ENST00000374198.4	37	NULL	CCDS6791.1	9																																																																																			PRPF4	-	-		0.408	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	C	NM_004697		116045409	+1	no_errors	ENST00000488937	ensembl	human	known	70_37	rna	SNP	0.989	T
PIKFYVE	200576	genome.wustl.edu	37	2	209224740	209224740	+	IGR	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:209224740C>G	ENST00000264380.4	+	0	9901				PTH2R_ENST00000413482.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing						cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CAGTCCCTATCCACCCACAGG	0.507																																																	0																																										SO:0001628	intergenic_variant	5746			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945		2.37:g.209224740C>G			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	RNA	SNP	-	NULL	ENST00000264380.4	37	NULL	CCDS2382.1	2																																																																																			PTH2R	-	-		0.507	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	HGNC	protein_coding	OTTHUMT00000256477.2	C	NM_015040		209224740	+1	no_errors	ENST00000413482	ensembl	human	known	70_37	rna	SNP	0.001	G
BAG2	9532	genome.wustl.edu	37	6	57054534	57054534	+	3'UTR	SNP	A	A	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:57054534A>G	ENST00000370693.5	+	0	6554				RAB23_ENST00000317483.3_3'UTR	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2						protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAAATTAGGTATGATATTTTT	0.264																																																	0																																										SO:0001624	3_prime_UTR_variant	51715			AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.*5546A>G	6.37:g.57054534A>G			B4DXE2|Q08AS9|Q6FID0	RNA	SNP	-	NULL	ENST00000370693.5	37	NULL	CCDS4961.1	6																																																																																			RAB23	-	-		0.264	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB23	HGNC	protein_coding	OTTHUMT00000041044.2	A			57054534	-1	no_errors	ENST00000344445	ensembl	human	known	70_37	rna	SNP	0.039	G
RABL2B	11158	genome.wustl.edu	37	22	51208152	51208152	+	Intron	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr22:51208152G>A	ENST00000395598.3	-	7	621				RABL2B_ENST00000395593.3_Intron|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395595.3_Intron|RABL2B_ENST00000354869.3_Intron|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000435118.1_Intron	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		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)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		AAAGAGGGCAGGTCGGCTTAG	0.498																																					GBM(148;358 1894 4987 13698 40400)												0																																										SO:0001627	intron_variant	11158				CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.410-175C>T	22.37:g.51208152G>A			Q5TZT8|Q96C33	RNA	SNP	-	NULL	ENST00000395598.3	37	NULL	CCDS14102.1	22																																																																																			RABL2B	-	-		0.498	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2B	HGNC	protein_coding	OTTHUMT00000316606.1	G	NM_001003789		51208152	-1	no_errors	ENST00000465063	ensembl	human	known	70_37	rna	SNP	0.000	A
RAPGEF2	9693	genome.wustl.edu	37	4	160262865	160262865	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:160262865G>A	ENST00000264431.4	+	14	2620	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	734	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GAACTCTTTCGCAACATTGAA	0.398																																																	0													87.0	80.0	82.0					4																	160262865		1851	4098	5949	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2201G>A	4.37:g.160262865G>A	ENSP00000264431:p.Arg734His		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R734H	ENST00000264431.4	37	c.2201	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.396728	0.96009	.	.	ENSG00000109756	ENST00000264431	T	0.34072	1.38	5.76	5.76	0.90799	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.045148	0.85682	D	0.000000	T	0.63117	0.2484	M	0.73753	2.245	0.58432	D	0.999999	D	0.76494	0.999	D	0.70487	0.969	T	0.64063	-0.6495	10	0.87932	D	0	.	20.3277	0.98707	0.0:0.0:1.0:0.0	.	734	Q9Y4G8	RPGF2_HUMAN	H	734	ENSP00000264431:R734H	ENSP00000264431:R734H	R	+	2	0	RAPGEF2	160482315	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.841000	0.99482	2.879000	0.98667	0.650000	0.86243	CGC	RAPGEF2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.398	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	G	NM_014247		160262865	+1	no_errors	ENST00000264431	ensembl	human	known	70_37	missense	SNP	1.000	A
RBFOX1	54715	genome.wustl.edu	37	16	7760730	7760730	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:7760730C>T	ENST00000550418.1	+	16	2165	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	RBFOX1_ENST00000553186.1_Missense_Mutation_p.R366C|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R393C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R414C|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000340209.4_Missense_Mutation_p.R398C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R388C	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	393					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGGATACAACCGTTTTGCTCC	0.443																																					Ovarian(157;934 2567 15163 39509)												0													157.0	140.0	146.0					16																	7760730		2197	4300	6497	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1177C>T	16.37:g.7760730C>T	ENSP00000450031:p.Arg393Cys		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.R414C	ENST00000550418.1	37	c.1240	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438030	0.62955	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000352951;ENST00000340209	T;T;T;T;T;T	0.51325	0.75;0.71;0.75;1.13;1.01;0.78	5.95	5.95	0.96441	.	0.104988	0.64402	D	0.000003	T	0.64091	0.2567	L	0.39245	1.2	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.939;0.997;0.996;0.988;0.983	T	0.63985	-0.6513	10	0.87932	D	0	-6.5935	20.3923	0.98948	0.0:1.0:0.0:0.0	.	387;414;388;366;393	F8WAC5;Q9NWB1-2;Q9NWB1-4;Q9NWB1-3;Q9NWB1	.;.;.;.;RFOX1_HUMAN	C	393;366;393;388;414;387;398	ENSP00000450031:R393C;ENSP00000447753:R366C;ENSP00000447717:R393C;ENSP00000402745:R388C;ENSP00000309117:R414C;ENSP00000344196:R398C	ENSP00000309117:R414C	R	+	1	0	RBFOX1	7700731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.313000	0.59160	2.831000	0.97527	0.609000	0.83330	CGT	RBFOX1	-	NULL		0.443	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	C	NM_145891		7760730	+1	no_errors	ENST00000311745	ensembl	human	known	70_37	missense	SNP	1.000	T
RBMXL3	139804	genome.wustl.edu	37	X	114424925	114424925	+	Silent	SNP	C	C	T	rs371343556		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:114424925C>T	ENST00000424776.3	+	1	963	c.921C>T	c.(919-921)taC>taT	p.Y307Y	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	307							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						TCAAGAGCTACGGAGGCCCAT	0.622													C|||	2	0.000529801	0.0008	0.0	3775	,	,		11411	0.0		0.001	False		,,,				2504	0.0																0								C	,	1,1208		0,1,0,516,175	31.0	35.0	34.0		921,	-1.7	0.0	X		34	2,2389		0,0,2,800,789	no	coding-synonymous,intron	LRCH2,RBMXL3	NM_001145346.1,NM_020871.3	,	0,1,2,1316,964	TT,TC,T,CC,C		0.0836,0.0827,0.0833	,	307/1068,	114424925	3,3597	692	1591	2283	SO:0001819	synonymous_variant	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.921C>T	X.37:g.114424925C>T			B4DXC0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y307	ENST00000424776.3	37	c.921	CCDS55478.1	X																																																																																			RBMXL3	-	NULL		0.622	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	C	NM_001145346		114424925	+1	no_errors	ENST00000424776	ensembl	human	known	70_37	silent	SNP	0.180	T
RBMX2	51634	genome.wustl.edu	37	X	129546420	129546420	+	Silent	SNP	C	C	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:129546420C>A	ENST00000305536.6	+	6	631	c.567C>A	c.(565-567)ccC>ccA	p.P189P		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	189	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTTCGTCACCCAGACGCAAGA	0.478																																																	0													54.0	55.0	55.0					X																	129546420		1954	4125	6079	SO:0001819	synonymous_variant	51634			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.567C>A	X.37:g.129546420C>A			A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P189	ENST00000305536.6	37	c.567	CCDS43993.1	X																																																																																			RBMX2	-	NULL		0.478	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	C	NM_016024		129546420	+1	no_errors	ENST00000305536	ensembl	human	known	70_37	silent	SNP	0.277	A
RCOR1	23186	genome.wustl.edu	37	14	103180763	103180763	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:103180763C>T	ENST00000570597.1	+	8	853	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S	RCOR1_ENST00000262241.6_Missense_Mutation_p.P288S			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	285					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CATGCAGGTTCCCCCTACTGA	0.338																																																	0													48.0	45.0	46.0					14																	103180763		2203	4300	6503	SO:0001583	missense	23186			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.853C>T	14.37:g.103180763C>T	ENSP00000459789:p.Pro285Ser		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom	p.P288S	ENST00000570597.1	37	c.862		14	.	.	.	.	.	.	.	.	.	.	C	11.03	1.517954	0.27211	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.93	5.93	0.95920	.	0.230512	0.45867	D	0.000339	T	0.43853	0.1266	L	0.28115	0.83	0.54753	D	0.99998	P	0.47106	0.89	B	0.43413	0.419	T	0.24548	-1.0157	9	0.08179	T	0.78	-8.3186	20.3312	0.98718	0.0:1.0:0.0:0.0	.	285	Q9UKL0	RCOR1_HUMAN	S	285	.	ENSP00000262241:P285S	P	+	1	0	RCOR1	102250516	0.941000	0.31946	0.981000	0.43875	0.169000	0.22640	2.548000	0.45794	2.797000	0.96272	0.655000	0.94253	CCC	RCOR1	-	NULL		0.338	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	HGNC	protein_coding		C	NM_015156		103180763	+1	no_errors	ENST00000262241	ensembl	human	known	70_37	missense	SNP	0.997	T
RIMS1	22999	genome.wustl.edu	37	6	72984074	72984074	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:72984074G>A	ENST00000521978.1	+	23	3421	c.3421G>A	c.(3421-3423)Gat>Aat	p.D1141N	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1077N|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000538414.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1141					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCCCTCCCTAGATAGGAGACG	0.468																																																	0													76.0	73.0	74.0					6																	72984074		1885	4110	5995	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3421G>A	6.37:g.72984074G>A	ENSP00000428417:p.Asp1141Asn		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.D1141N	ENST00000521978.1	37	c.3421	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627680	0.66901	.	.	ENSG00000079841	ENST00000349908;ENST00000518273;ENST00000521978	T;T	0.12774	2.71;2.65	5.56	5.56	0.83823	.	0.308232	0.22573	N	0.058319	T	0.05640	0.0148	N	0.19112	0.55	0.80722	D	1	P;B	0.35383	0.498;0.361	B;B	0.39660	0.306;0.051	T	0.40403	-0.9565	10	0.13853	T	0.58	-12.3511	17.7137	0.88330	0.0:0.0:1.0:0.0	.	1077;1141	E7ERQ1;Q86UR5	.;RIMS1_HUMAN	N	1077;1077;1141	ENSP00000430408:D1077N;ENSP00000428417:D1141N	ENSP00000326638:D1077N	D	+	1	0	RIMS1	73040795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.015000	0.64035	2.626000	0.88956	0.650000	0.86243	GAT	RIMS1	-	NULL		0.468	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72984074	+1	no_errors	ENST00000521978	ensembl	human	known	70_37	missense	SNP	1.000	A
RNPC3	55599	genome.wustl.edu	37	1	104076467	104076467	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:104076467delA	ENST00000533099.1	+	4	583	c.347delA	c.(346-348)gaafs	p.E116fs	RNPC3_ENST00000524631.1_Frame_Shift_Del_p.E116fs|RNPC3_ENST00000423855.2_Frame_Shift_Del_p.E116fs			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	116	Necessary for interaction with PDCD7.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TCAGGCTCTGAAAAAAAAAAA	0.318																																																	0										85,435,1262		6,1,72,18,398,396	50.0	39.0	43.0			4.6	0.6	1		49	197,914,2651		20,3,154,16,879,809	no	codingComplex	RNPC3	NM_017619.3		26,4,226,34,1277,1205	A1A1,A1A2,A1R,A2A2,A2R,RR		29.5322,29.1807,29.4192			104076467	282,1349,3913	692	1590	2282	SO:0001589	frameshift_variant	55599			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.347delA	1.37:g.104076467delA	ENSP00000432886:p.Glu116fs		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K119fs	ENST00000533099.1	37	c.347	CCDS781.1	1																																																																																			RNPC3	-	NULL		0.318	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1	A	NM_017619		104076467	+1	no_errors	ENST00000423855	ensembl	human	known	70_37	frame_shift_del	DEL	0.784	-
RIT1	6016	genome.wustl.edu	37	1	155874548	155874548	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:155874548G>C	ENST00000368323.3	-	4	415	c.211C>G	c.(211-213)Ctg>Gtg	p.L71V	RIT1_ENST00000539040.1_Missense_Mutation_p.L35V|RIT1_ENST00000368322.3_Missense_Mutation_p.L88V	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	71					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			AAAATGTCCAGATTGGCAGGC	0.423																																																	0													98.0	90.0	93.0					1																	155874548		2203	4300	6503	SO:0001583	missense	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.211C>G	1.37:g.155874548G>C	ENSP00000357306:p.Leu71Val		B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L71V	ENST00000368323.3	37	c.211	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084401	0.55861	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	D;D;D	0.83837	-1.77;-1.77;-1.77	4.88	3.97	0.46021	Small GTP-binding protein domain (1);	0.000000	0.56097	D	0.000026	D	0.86694	0.5994	M	0.78344	2.41	0.58432	D	0.999999	D	0.56746	0.977	P	0.61592	0.891	D	0.88699	0.3214	10	0.87932	D	0	.	13.0293	0.58833	0.0789:0.0:0.9211:0.0	.	71	Q92963	RIT1_HUMAN	V	71;35;88	ENSP00000357306:L71V;ENSP00000441950:L35V;ENSP00000357305:L88V	ENSP00000357305:L88V	L	-	1	2	RIT1	154141172	0.994000	0.37717	1.000000	0.80357	0.987000	0.75469	1.560000	0.36331	1.293000	0.44690	0.313000	0.20887	CTG	RIT1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.423	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	G	NM_006912		155874548	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	missense	SNP	1.000	C
RPL9	6133	genome.wustl.edu	37	4	39458080	39458080	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:39458080C>T	ENST00000449470.2	-	4	785	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000381846.1_5'Flank|LIAS_ENST00000513731.1_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.E113K|LIAS_ENST00000261434.3_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	113					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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						TTTCGGATTTCAACAAGAGAC	0.403																																																	0													41.0	42.0	42.0					4																	39458080		2201	4297	6498	SO:0001583	missense	6133			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.337G>A	4.37:g.39458080C>T	ENSP00000400467:p.Glu113Lys			Missense_Mutation	SNP	pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6	p.E113K	ENST00000449470.2	37	c.337	CCDS3452.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.855195	0.97030	.	.	ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470	.	.	.	5.66	5.66	0.87406	Ribosomal protein L6, alpha-beta domain (3);	0.000000	0.85682	U	0.000000	D	0.83147	0.5191	M	0.89414	3.03	0.80722	D	1	D;P	0.57899	0.981;0.866	P;P	0.58721	0.844;0.817	D	0.86187	0.1610	9	0.87932	D	0	.	18.7279	0.91722	0.0:1.0:0.0:0.0	.	113;113	B4DLV8;P32969	.;RL9_HUMAN	K	113	.	ENSP00000346022:E113K	E	-	1	0	RPL9	39134475	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.741000	0.84997	2.665000	0.90641	0.561000	0.74099	GAA	RPL9	-	pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6		0.403	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL9	HGNC	protein_coding	OTTHUMT00000361018.1	C			39458080	-1	no_errors	ENST00000295955	ensembl	human	known	70_37	missense	SNP	1.000	T
RTN4RL2	349667	genome.wustl.edu	37	11	57235245	57235245	+	Silent	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:57235245C>G	ENST00000533205.1	+	2	204	c.195C>G	c.(193-195)ctC>ctG	p.L65L	RTN4RL2_ENST00000395120.2_Silent_p.L65L|RTN4RL2_ENST00000335099.3_Silent_p.L65L					reticulon 4 receptor-like 2									p.L65L(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCAGCGACTCTTCCTGCAGA	0.617																																																	1	Substitution - coding silent(1)	lung(1)											180.0	157.0	165.0					11																	57235245		2201	4296	6497	SO:0001819	synonymous_variant	349667			BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.195C>G	11.37:g.57235245C>G				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L65	ENST00000533205.1	37	c.195		11																																																																																			RTN4RL2	-	smart_Leu-rich_rpt_typical-subtyp		0.617	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	RTN4RL2	HGNC	protein_coding	OTTHUMT00000392538.1	C	NM_178570		57235245	+1	no_errors	ENST00000335099	ensembl	human	known	70_37	silent	SNP	1.000	G
SBSPON	157869	genome.wustl.edu	37	8	73979488	73979488	+	3'UTR	SNP	C	C	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr8:73979488C>A	ENST00000297354.6	-	0	1087				SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing						immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										GGGACTTTGGCCAAAATTGAA	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	157869				CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.*88G>T	8.37:g.73979488C>A			A8KAA5|Q96J64	RNA	SNP	-	NULL	ENST00000297354.6	37	NULL	CCDS43747.2	8																																																																																			SBSPON	-	-		0.318	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBSPON	HGNC	protein_coding	OTTHUMT00000347584.2	C	NM_153225		73979488	-1	no_errors	ENST00000519697	ensembl	human	known	70_37	rna	SNP	0.000	A
SDHB	6390	genome.wustl.edu	37	1	17371366	17371366	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:17371366C>G	ENST00000375499.3	-	2	240	c.90G>C	c.(88-90)caG>caC	p.Q30H	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	30					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CTGCAGCTGTCTGGGCTCCTC	0.423			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""		O	0													65.0	65.0	65.0					1																	17371366		2203	4300	6503	SO:0001583	missense	6390	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.90G>C	1.37:g.17371366C>G	ENSP00000364649:p.Gln30His		B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S	p.Q30H	ENST00000375499.3	37	c.90	CCDS176.1	1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627473	0.46944	.	.	ENSG00000117118	ENST00000375499	D	0.99032	-5.35	5.65	2.8	0.32819	.	0.125911	0.56097	D	0.000034	D	0.95204	0.8445	N	0.08118	0	0.58432	D	0.999997	P	0.50819	0.939	B	0.43701	0.428	D	0.92520	0.6024	10	0.23891	T	0.37	-12.1293	10.8156	0.46573	0.0:0.8136:0.0:0.1863	.	30	P21912	DHSB_HUMAN	H	30	ENSP00000364649:Q30H	ENSP00000364649:Q30H	Q	-	3	2	SDHB	17243953	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	1.171000	0.31896	0.490000	0.27771	0.655000	0.94253	CAG	SDHB	-	NULL		0.423	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHB	HGNC	protein_coding	OTTHUMT00000006603.1	C	NM_003000		17371366	-1	no_errors	ENST00000375499	ensembl	human	known	70_37	missense	SNP	1.000	G
SEC24C	9632	genome.wustl.edu	37	10	75527640	75527640	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr10:75527640G>C	ENST00000339365.2	+	16	2218	c.2056G>C	c.(2056-2058)Gag>Cag	p.E686Q	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.E686Q|SEC24C_ENST00000411652.2_Missense_Mutation_p.E567Q|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	686					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCTGGCCAAAGAGTGTGTGGC	0.527																																																	0													159.0	147.0	151.0					10																	75527640		2203	4300	6503	SO:0001583	missense	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2056G>C	10.37:g.75527640G>C	ENSP00000343405:p.Glu686Gln		B4DZT4|Q8WV25	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.E686Q	ENST00000339365.2	37	c.2056	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616448	0.66672	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.75367	-0.93;-0.93;-0.93	5.98	5.08	0.68730	Sec23/Sec24, trunk domain (1);	0.196548	0.56097	N	0.000035	T	0.70509	0.3232	L	0.46157	1.445	0.80722	D	1	B;B;B	0.32409	0.155;0.37;0.256	B;B;B	0.32022	0.022;0.114;0.139	T	0.71286	-0.4638	10	0.59425	D	0.04	-15.4984	17.409	0.87480	0.0:0.1244:0.8756:0.0	.	567;686;686	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	Q	686;686;567	ENSP00000321845:E686Q;ENSP00000343405:E686Q;ENSP00000402913:E567Q	ENSP00000343405:E686Q	E	+	1	0	SEC24C	75197646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.012000	0.88631	1.538000	0.49270	0.591000	0.81541	GAG	SEC24C	-	pfam_Sec23/24_trunk_dom		0.527	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	G			75527640	+1	no_errors	ENST00000339365	ensembl	human	known	70_37	missense	SNP	1.000	C
SENP1	29843	genome.wustl.edu	37	12	48457495	48457495	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:48457495C>T	ENST00000004980.5	-	13	1883	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	SENP1_ENST00000448372.1_Missense_Mutation_p.E469K|SENP1_ENST00000549595.1_Missense_Mutation_p.E469K|SENP1_ENST00000551330.1_Missense_Mutation_p.E469K|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.E469K			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	469	Protease.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AACATTACCTCATCATTGAGC	0.358																																																	0													162.0	155.0	157.0					12																	48457495		1885	4118	6003	SO:0001583	missense	29843			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1405G>A	12.37:g.48457495C>T	ENSP00000004980:p.Glu469Lys		A8K7P5|Q86XC8	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.E469K	ENST00000004980.5	37	c.1405	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	C	34	5.319216	0.95682	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.64807	-0.6320	10	0.72032	D	0.01	-12.9249	18.7669	0.91876	0.0:1.0:0.0:0.0	.	469;469	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	K	469	ENSP00000004980:E469K;ENSP00000394791:E469K;ENSP00000446681:E469K;ENSP00000450076:E469K;ENSP00000447328:E469K	ENSP00000004980:E469K	E	-	1	0	SENP1	46743762	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.995000	0.76257	2.534000	0.85438	0.655000	0.94253	GAG	SENP1	-	pfam_Peptidase_C48,pfscan_Peptidase_C48		0.358	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	C	NM_014554		48457495	-1	no_errors	ENST00000004980	ensembl	human	known	70_37	missense	SNP	1.000	T
SENP8	123228	genome.wustl.edu	37	15	72432489	72432489	+	Silent	SNP	T	T	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:72432489T>C	ENST00000542035.2	+	2	858	c.525T>C	c.(523-525)tgT>tgC	p.C175C	SENP8_ENST00000544171.1_Silent_p.C175C|SENP8_ENST00000544411.1_Silent_p.C175C|SENP8_ENST00000340912.4_Silent_p.C175C|RP11-2I17.4_ENST00000568984.1_RNA	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	175							cysteine-type peptidase activity (GO:0008234)	p.C175*(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						AGGCCTTGTGTCAGAACTTCT	0.468																																																	1	Substitution - Nonsense(1)	ovary(1)											115.0	110.0	111.0					15																	72432489		2199	4297	6496	SO:0001819	synonymous_variant	123228			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"""NEDD8-specific protease 1"", ""sentrin/SUMO-specific protease SENP8"", ""deneddylase 1"""	608659	"""protease, cysteine, 2 (NEDD8 specific)"", ""SUMO/sentrin specific protease family member 8"""	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.525T>C	15.37:g.72432489T>C			Q96QA4	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.C175	ENST00000542035.2	37	c.525	CCDS10240.1	15																																																																																			SENP8	-	pfam_Peptidase_C48		0.468	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP8	HGNC	protein_coding	OTTHUMT00000420036.1	T	NM_145204		72432489	+1	no_errors	ENST00000340912	ensembl	human	known	70_37	silent	SNP	0.985	C
SERAC1	84947	genome.wustl.edu	37	6	158538838	158538838	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:158538838C>G	ENST00000367104.3	-	13	1455	c.1324G>C	c.(1324-1326)Gac>Cac	p.D442H	SERAC1_ENST00000367101.1_Missense_Mutation_p.D442H|SERAC1_ENST00000367102.2_Missense_Mutation_p.D442H	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	442					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GCAGGACAGTCTTTTGCTAAC	0.403																																																	0													97.0	93.0	95.0					6																	158538838		2203	4300	6503	SO:0001583	missense	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1324G>C	6.37:g.158538838C>G	ENSP00000356071:p.Asp442His		Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	pfam_PGAP1-like,superfamily_ARM-type_fold	p.D442H	ENST00000367104.3	37	c.1324	CCDS5255.1	6	.	.	.	.	.	.	.	.	.	.	.	28.1	4.888540	0.91814	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000435180;ENST00000367101	D;D;D;D	0.95069	-2.94;-3.6;-3.6;-2.94	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.96682	0.8917	M	0.76328	2.33	0.47819	D	0.999523	D	0.89917	1.0	D	0.87578	0.998	D	0.95019	0.8159	10	0.87932	D	0	-27.9969	19.8411	0.96685	0.0:1.0:0.0:0.0	.	442	Q96JX3	SRAC1_HUMAN	H	442;442;17;442	ENSP00000356069:D442H;ENSP00000356071:D442H;ENSP00000391168:D17H;ENSP00000356068:D442H	ENSP00000356068:D442H	D	-	1	0	SERAC1	158458826	1.000000	0.71417	0.400000	0.26346	0.995000	0.86356	7.293000	0.78740	0.122000	0.18314	0.533000	0.62120	GAC	SERAC1	-	pfam_PGAP1-like		0.403	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	HGNC	protein_coding	OTTHUMT00000042862.1	C	NM_032861		158538838	-1	no_errors	ENST00000367104	ensembl	human	known	70_37	missense	SNP	0.007	G
SERPINA10	51156	genome.wustl.edu	37	14	94754777	94754777	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:94754777C>G	ENST00000393096.1	-	3	1303	c.838G>C	c.(838-840)Gac>Cac	p.D280H	SERPINA10_ENST00000554173.1_Missense_Mutation_p.D280H|SERPINA10_ENST00000261994.4_Missense_Mutation_p.D280H|SERPINA10_ENST00000554723.1_Missense_Mutation_p.D320H	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	280					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAATTCTTGTCAAAGGTGGAG	0.507																																																	0													133.0	111.0	119.0					14																	94754777		2203	4300	6503	SO:0001583	missense	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.838G>C	14.37:g.94754777C>G	ENSP00000376809:p.Asp280His		A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D280H	ENST00000393096.1	37	c.838	CCDS9923.1	14	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621593	0.46736	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	5.37	4.47	0.54385	Serpin domain (3);	0.081921	0.49305	D	0.000150	D	0.94873	0.8343	M	0.87269	2.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.95203	0.8318	10	0.56958	D	0.05	.	15.2717	0.73708	0.1416:0.8584:0.0:0.0	.	280	Q9UK55	ZPI_HUMAN	H	320;280;280;280	ENSP00000450896:D320H;ENSP00000376809:D280H;ENSP00000261994:D280H;ENSP00000450971:D280H	ENSP00000261994:D280H	D	-	1	0	SERPINA10	93824530	1.000000	0.71417	0.587000	0.28692	0.330000	0.28571	3.289000	0.51747	1.217000	0.43442	0.313000	0.20887	GAC	SERPINA10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.507	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	HGNC	protein_coding	OTTHUMT00000413061.1	C	NM_016186		94754777	-1	no_errors	ENST00000261994	ensembl	human	known	70_37	missense	SNP	0.983	G
SHANK2	22941	genome.wustl.edu	37	11	70332901	70332901	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:70332901G>A	ENST00000423696.2	-	15	2396	c.2360C>T	c.(2359-2361)cCg>cTg	p.P787L	SHANK2_ENST00000449833.2_Missense_Mutation_p.P571L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1167L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P570L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	787					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.P1167Q(1)|p.P571Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGCCTCACCCGGAGCACTGGC	0.706																																																	2	Substitution - Missense(2)	lung(2)											27.0	34.0	32.0					11																	70332901		2200	4288	6488	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2360C>T	11.37:g.70332901G>A	ENSP00000394536:p.Pro787Leu		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P1167L	ENST00000423696.2	37	c.3500		11	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270271	0.80469	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.05	5.05	0.67936	.	1.660630	0.04121	N	0.316346	T	0.28067	0.0692	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.04013	0.0;0.0;0.001	T	0.01688	-1.1295	10	0.48119	T	0.1	.	12.1276	0.53924	0.0:0.0:0.1438:0.8562	.	787;1166;571	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	571;570;445;1167;787;805;790	ENSP00000399423:P571L;ENSP00000386491:P570L;ENSP00000402944:P445L;ENSP00000345193:P1167L;ENSP00000394536:P787L;ENSP00000294018:P790L	ENSP00000294018:P790L	P	-	2	0	SHANK2	70010549	1.000000	0.71417	0.921000	0.36526	0.968000	0.65278	3.090000	0.50191	0.773000	0.33404	-0.363000	0.07495	CCG	SHANK2	-	NULL		0.706	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		G	NM_012309		70332901	-1	no_errors	ENST00000338508	ensembl	human	known	70_37	missense	SNP	0.997	A
SIGLECL1	284369	genome.wustl.edu	37	19	51767223	51767223	+	5'UTR	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:51767223C>T	ENST00000316401.7	+	0	278				SIGLECL1_ENST00000597824.1_5'UTR|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										CATCCTCTTTCAGTTACGCAT	0.502																																																	0																																										SO:0001623	5_prime_UTR_variant	284369			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.-104C>T	19.37:g.51767223C>T			Q8IYH7	RNA	SNP	-	NULL	ENST00000316401.7	37	NULL	CCDS12827.1	19																																																																																			SIGLECL1	-	-		0.502	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLECL1	HGNC	protein_coding	OTTHUMT00000464161.2	C	NM_173635		51767223	+1	no_errors	ENST00000593968	ensembl	human	known	70_37	rna	SNP	0.008	T
SLC17A8	246213	genome.wustl.edu	37	12	100813787	100813787	+	Silent	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:100813787G>T	ENST00000323346.5	+	12	1933	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A	SLC17A8_ENST00000392989.3_Silent_p.A490A|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	540					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGAGTTTTGCGAGTCCCAAAA	0.478																																																	0													60.0	59.0	60.0					12																	100813787		2203	4300	6503	SO:0001819	synonymous_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1620G>T	12.37:g.100813787G>T			B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A540	ENST00000323346.5	37	c.1620	CCDS9077.1	12																																																																																			SLC17A8	-	NULL		0.478	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	G	NM_139319		100813787	+1	no_errors	ENST00000323346	ensembl	human	known	70_37	silent	SNP	0.000	T
SLC25A2	83884	genome.wustl.edu	37	5	140683187	140683187	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:140683187G>A	ENST00000239451.4	-	1	425	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	82					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CGTAGCACATGAAGAGGACCG	0.587																																																	0													89.0	89.0	89.0					5																	140683187		2203	4300	6503	SO:0001819	synonymous_variant	83884			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.246C>T	5.37:g.140683187G>A			Q496C1|Q6XUI0|Q8NFZ2	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.F82	ENST00000239451.4	37	c.246	CCDS4258.1	5																																																																																			SLC25A2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.587	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A2	HGNC	protein_coding	OTTHUMT00000251799.2	G	NM_031947		140683187	-1	no_errors	ENST00000239451	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC35A3	23443	genome.wustl.edu	37	1	100488414	100488414	+	3'UTR	SNP	C	C	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:100488414C>A	ENST00000370155.3	+	0	1752				SLC35A3_ENST00000370153.1_3'UTR|SLC35A3_ENST00000427993.2_3'UTR|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_3'UTR	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3						transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CTTACTCTTTCTGTACAGATA	0.244																																					Ovarian(7;298 356 944 2149 6911)												0																																										SO:0001624	3_prime_UTR_variant	23443			AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.*382C>A	1.37:g.100488414C>A			A8K3F8|D3DT54|Q68CR2|Q9BSB7	RNA	SNP	-	NULL	ENST00000370155.3	37	NULL	CCDS762.1	1																																																																																			SLC35A3	-	-		0.244	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC35A3	HGNC	protein_coding	OTTHUMT00000029783.1	C	NM_012243		100488414	+1	no_errors	ENST00000370156	ensembl	human	known	70_37	rna	SNP	0.055	A
SLC6A20	54716	genome.wustl.edu	37	3	45812709	45812709	+	Splice_Site	SNP	T	T	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:45812709T>G	ENST00000358525.4	-	6	1050	c.935A>C	c.(934-936)aAg>aCg	p.K312T	SLC6A20_ENST00000353278.4_Splice_Site_p.K275T|SLC6A20_ENST00000456124.2_Splice_Site_p.K312T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	312					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCAGGCTTACTTCTTCAAGCA	0.542																																																	0													78.0	72.0	74.0					3																	45812709		2203	4300	6503	SO:0001630	splice_region_variant	54716			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.935+1A>C	3.37:g.45812709T>G			A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.K312T	ENST00000358525.4	37	c.935	CCDS43077.1	3	.	.	.	.	.	.	.	.	.	.	T	7.930	0.740506	0.15642	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.76839	-1.05;-0.95;-0.97	5.02	3.86	0.44501	.	0.115474	0.64402	D	0.000019	T	0.60090	0.2242	N	0.04203	-0.255	0.45390	D	0.998373	P;P	0.42161	0.73;0.772	B;P	0.46850	0.394;0.529	T	0.55036	-0.8203	9	.	.	.	.	7.91	0.29785	0.0:0.1608:0.0:0.8392	.	275;312	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	T	275;312;312	ENSP00000296133:K275T;ENSP00000346298:K312T;ENSP00000404310:K312T	.	K	-	2	0	SLC6A20	45787713	1.000000	0.71417	0.948000	0.38648	0.347000	0.29111	2.934000	0.48956	0.759000	0.33084	0.383000	0.25322	AAG	SLC6A20	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.542	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	HGNC	protein_coding	OTTHUMT00000257318.3	T	NM_020208	Missense_Mutation	45812709	-1	no_errors	ENST00000358525	ensembl	human	known	70_37	missense	SNP	1.000	G
SLIT1	6585	genome.wustl.edu	37	10	98773558	98773558	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr10:98773558G>C	ENST00000266058.4	-	30	3388	c.3143C>G	c.(3142-3144)tCt>tGt	p.S1048C	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.S1048C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1048	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGATCCGGAGAGCACAAGTC	0.637																																																	0													63.0	47.0	53.0					10																	98773558		2023	3846	5869	SO:0001583	missense	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3143C>G	10.37:g.98773558G>C	ENSP00000266058:p.Ser1048Cys		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.S1048C	ENST00000266058.4	37	c.3143	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	G	10.18	1.277972	0.23307	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.91124	-2.79;-2.79	4.01	3.1	0.35709	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.179636	0.49916	D	0.000122	D	0.89199	0.6647	M	0.77486	2.375	0.80722	D	1	B	0.14805	0.011	B	0.17098	0.017	D	0.85230	0.1032	10	0.37606	T	0.19	.	11.2894	0.49241	0.0894:0.0:0.9106:0.0	.	1048	O75093	SLIT1_HUMAN	C	1048	ENSP00000266058:S1048C;ENSP00000360109:S1048C	ENSP00000266058:S1048C	S	-	2	0	SLIT1	98763548	1.000000	0.71417	0.577000	0.28562	0.268000	0.26511	8.468000	0.90393	0.889000	0.36185	0.561000	0.74099	TCT	SLIT1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.637	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	G	NM_003061		98773558	-1	no_errors	ENST00000266058	ensembl	human	known	70_37	missense	SNP	0.985	C
SLIT3	6586	genome.wustl.edu	37	5	168176634	168176634	+	Silent	SNP	G	G	C	rs149224050		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:168176634G>C	ENST00000519560.1	-	19	2399	c.1980C>G	c.(1978-1980)ctC>ctG	p.L660L	SLIT3_ENST00000332966.8_Silent_p.L660L|SLIT3_ENST00000404867.3_Silent_p.L660L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	660					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTGGACAGGAGGTTTCTAG	0.597																																					Ovarian(29;311 847 10864 17279 24903)												0													103.0	115.0	110.0					5																	168176634		2203	4300	6503	SO:0001819	synonymous_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1980C>G	5.37:g.168176634G>C			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L660	ENST00000519560.1	37	c.1980	CCDS4369.1	5																																																																																			SLIT3	-	NULL		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	G	NM_003062		168176634	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	silent	SNP	0.989	C
SNRNP200	23020	genome.wustl.edu	37	2	96944427	96944427	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:96944427C>T	ENST00000323853.5	-	38	5423	c.5346G>A	c.(5344-5346)tcG>tcA	p.S1782S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1782					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACAAGTGGTCCGACAAGTGAC	0.572																																																	0													88.0	86.0	87.0					2																	96944427		2203	4300	6503	SO:0001819	synonymous_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5346G>A	2.37:g.96944427C>T			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1782	ENST00000323853.5	37	c.5346	CCDS2020.1	2																																																																																			SNRNP200	-	NULL		0.572	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	C	NM_014014		96944427	-1	no_errors	ENST00000323853	ensembl	human	known	70_37	silent	SNP	0.985	T
SNRNP48	154007	genome.wustl.edu	37	6	7590611	7590611	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:7590611G>C	ENST00000342415.5	+	1	180	c.121G>C	c.(121-123)Gat>Cat	p.D41H		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	41					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTGGGACCTAGATAGTCTGGA	0.692																																																	0													15.0	17.0	16.0					6																	7590611		2182	4272	6454	SO:0001583	missense	154007			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.121G>C	6.37:g.7590611G>C	ENSP00000339834:p.Asp41His		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.D41H	ENST00000342415.5	37	c.121	CCDS4502.1	6	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604386	0.66445	.	.	ENSG00000168566	ENST00000342415;ENST00000397475	T	0.35789	1.29	5.16	4.29	0.51040	.	0.432330	0.27349	N	0.019762	T	0.15435	0.0372	L	0.32530	0.975	0.34745	D	0.731193	P	0.37864	0.61	B	0.38712	0.28	T	0.06427	-1.0827	10	0.87932	D	0	-5.8083	9.4152	0.38517	0.0986:0.0:0.9014:0.0	.	41	Q6IEG0	SNR48_HUMAN	H	41	ENSP00000339834:D41H	ENSP00000339834:D41H	D	+	1	0	SNRNP48	7535610	1.000000	0.71417	0.948000	0.38648	0.979000	0.70002	3.167000	0.50793	1.167000	0.42706	0.563000	0.77884	GAT	SNRNP48	-	NULL		0.692	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP48	HGNC	protein_coding	OTTHUMT00000039787.3	G	NM_152551		7590611	+1	no_errors	ENST00000342415	ensembl	human	known	70_37	missense	SNP	0.993	C
SOCS4	122809	genome.wustl.edu	37	14	55509864	55509864	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:55509864G>A	ENST00000395472.2	+	2	437	c.105G>A	c.(103-105)aaG>aaA	p.K35K	SOCS4_ENST00000555846.1_Silent_p.K35K|SOCS4_ENST00000339298.2_Silent_p.K35K	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	35					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.K35N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GGAGTGGAAAGAAGTTATCTT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											147.0	146.0	146.0					14																	55509864		2203	4300	6503	SO:0001819	synonymous_variant	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.105G>A	14.37:g.55509864G>A				Silent	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.K35	ENST00000395472.2	37	c.105	CCDS9722.1	14																																																																																			SOCS4	-	NULL		0.383	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55509864	+1	no_errors	ENST00000339298	ensembl	human	known	70_37	silent	SNP	1.000	A
SOCS4	122809	genome.wustl.edu	37	14	55509907	55509907	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:55509907G>A	ENST00000395472.2	+	2	480	c.148G>A	c.(148-150)Gag>Aag	p.E50K	SOCS4_ENST00000555846.1_Missense_Mutation_p.E50K|SOCS4_ENST00000339298.2_Missense_Mutation_p.E50K	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	50					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TTCAGATGCTGAGACAGTGAA	0.423																																																	0													158.0	151.0	153.0					14																	55509907		2203	4300	6503	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.148G>A	14.37:g.55509907G>A	ENSP00000378855:p.Glu50Lys			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E50K	ENST00000395472.2	37	c.148	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248494	0.39797	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.33865	1.39;1.39;1.39	5.75	5.75	0.90469	.	0.268898	0.30911	N	0.008640	T	0.25306	0.0615	N	0.19112	0.55	0.51233	D	0.999913	P	0.36282	0.546	B	0.26770	0.073	T	0.03576	-1.1023	10	0.38643	T	0.18	-8.5401	19.9522	0.97203	0.0:0.0:1.0:0.0	.	50	Q8WXH5	SOCS4_HUMAN	K	50	ENSP00000378855:E50K;ENSP00000452522:E50K;ENSP00000341327:E50K	ENSP00000341327:E50K	E	+	1	0	SOCS4	54579660	1.000000	0.71417	0.974000	0.42286	0.284000	0.27059	6.463000	0.73530	2.725000	0.93324	0.655000	0.94253	GAG	SOCS4	-	NULL		0.423	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55509907	+1	no_errors	ENST00000339298	ensembl	human	known	70_37	missense	SNP	1.000	A
SOCS4	122809	genome.wustl.edu	37	14	55509925	55509925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:55509925G>T	ENST00000395472.2	+	2	498	c.166G>T	c.(166-168)Gag>Tag	p.E56*	SOCS4_ENST00000555846.1_Nonsense_Mutation_p.E56*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.E56*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	56					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GAATGGTATAGAGAAAACCGA	0.423																																																	0													155.0	146.0	149.0					14																	55509925		2203	4300	6503	SO:0001587	stop_gained	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.166G>T	14.37:g.55509925G>T	ENSP00000378855:p.Glu56*			Nonsense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E56*	ENST00000395472.2	37	c.166	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502032	0.26949	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	5.22	4.33	0.51752	.	0.283735	0.29314	N	0.012519	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-4.7738	13.6947	0.62569	0.0733:0.0:0.9267:0.0	.	.	.	.	X	56	.	ENSP00000341327:E56X	E	+	1	0	SOCS4	54579678	0.955000	0.32602	0.022000	0.16811	0.007000	0.05969	4.226000	0.58606	1.446000	0.47643	0.655000	0.94253	GAG	SOCS4	-	NULL		0.423	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55509925	+1	no_errors	ENST00000339298	ensembl	human	known	70_37	nonsense	SNP	0.033	T
SOCS4	122809	genome.wustl.edu	37	14	55511068	55511068	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:55511068G>A	ENST00000395472.2	+	2	1641	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	SOCS4_ENST00000555846.1_Missense_Mutation_p.E437K|SOCS4_ENST00000339298.2_Missense_Mutation_p.E437K	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	437					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGATGCACCAGAACAGCAATG	0.308																																																	0													27.0	27.0	27.0					14																	55511068		2183	4289	6472	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.1309G>A	14.37:g.55511068G>A	ENSP00000378855:p.Glu437Lys			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.E437K	ENST00000395472.2	37	c.1309	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	9.680	1.148969	0.21288	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.32023	1.47;1.47;1.47	4.96	0.927	0.19437	.	0.089238	0.46145	D	0.000318	T	0.17831	0.0428	N	0.22421	0.69	0.37310	D	0.909076	B	0.02656	0.0	B	0.04013	0.001	T	0.06899	-1.0801	10	0.46703	T	0.11	-11.6529	7.8804	0.29618	0.1382:0.2482:0.6136:0.0	.	437	Q8WXH5	SOCS4_HUMAN	K	437	ENSP00000378855:E437K;ENSP00000452522:E437K;ENSP00000341327:E437K	ENSP00000341327:E437K	E	+	1	0	SOCS4	54580821	1.000000	0.71417	0.986000	0.45419	0.679000	0.39708	2.199000	0.42715	0.063000	0.16370	-0.175000	0.13238	GAA	SOCS4	-	NULL		0.308	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55511068	+1	no_errors	ENST00000339298	ensembl	human	known	70_37	missense	SNP	1.000	A
SOX5	6660	genome.wustl.edu	37	12	24102511	24102511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:24102511G>A	ENST00000451604.2	-	1	126	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	SOX5_ENST00000541847.1_Intron|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000381381.2_5'UTR|SOX5_ENST00000441133.2_Nonsense_Mutation_p.Q9*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.Q9*			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	9					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCAAACTCCTGAGGTAAATCA	0.438																																																	0													113.0	103.0	106.0					12																	24102511		2203	4300	6503	SO:0001587	stop_gained	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.25C>T	12.37:g.24102511G>A	ENSP00000398273:p.Gln9*		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Nonsense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q9*	ENST00000451604.2	37	c.25	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	g	38	6.816612	0.97861	.	.	ENSG00000134532	ENST00000451604;ENST00000537393;ENST00000441133	.	.	.	5.28	5.28	0.74379	.	0.154071	0.45126	D	0.000386	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	17.0691	0.86568	0.0:0.0:1.0:0.0	.	.	.	.	X	9	.	ENSP00000393240:Q9X	Q	-	1	0	SOX5	23993778	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.234000	0.89801	2.631000	0.89168	0.645000	0.84053	CAG	SOX5	-	NULL		0.438	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	G	NM_006940		24102511	-1	no_errors	ENST00000451604	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CTBS	1486	genome.wustl.edu	37	1	85018772	85018772	+	3'UTR	DEL	A	A	-			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:85018772delA	ENST00000370630.5	-	0	3116				CTBS_ENST00000477677.1_5'Flank	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-						chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.I452fs*1(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ACTGGCACAGAAAAAAAAAAT	0.239																																																	2	Deletion - Frameshift(2)	large_intestine(1)|central_nervous_system(1)								84,112,2696		6,0,72,9,94,1265	4.0	4.0	4.0			4.5	1.0	1		5	187,225,6094		21,3,142,14,194,2879	no	near-gene-3				27,3,214,23,288,4144	A1A1,A1A2,A1R,A2A2,A2R,RR		6.3326,6.7773,6.4695			85018772	271,337,8790	1533	3494	5027	SO:0001624	3_prime_UTR_variant	100505741			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.*1910T>-	1.37:g.85018772delA			Q5VX50	RNA	DEL	-	NULL	ENST00000370630.5	37	NULL	CCDS698.1	1																																																																																			SPATA1	-	-		0.239	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA1	HGNC	protein_coding	OTTHUMT00000027457.2	A	NM_004388		85018772	+1	no_errors	ENST00000460286	ensembl	human	known	70_37	rna	DEL	1.000	-
SPEF2	79925	genome.wustl.edu	37	5	35814619	35814619	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:35814619G>C	ENST00000356031.3	+	37	5587	c.5433G>C	c.(5431-5433)gaG>gaC	p.E1811D	SPEF2_ENST00000303129.4_Missense_Mutation_p.E608D|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1811					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGATGGAGAGAGATCACCTT	0.313																																																	0													71.0	65.0	67.0					5																	35814619		1823	4079	5902	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.5433G>C	5.37:g.35814619G>C	ENSP00000348314:p.Glu1811Asp		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.E1811D	ENST00000356031.3	37	c.5433	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042225	0.35989	.	.	ENSG00000152582	ENST00000356031;ENST00000303129	T;T	0.50548	3.18;0.74	5.38	-2.76	0.05896	.	0.491201	0.18859	N	0.129187	T	0.46386	0.1390	N	0.19112	0.55	0.22648	N	0.998896	D;D	0.64830	0.994;0.993	D;D	0.72982	0.979;0.967	T	0.48547	-0.9026	10	0.38643	T	0.18	.	11.735	0.51759	0.6793:0.0:0.3207:0.0	.	608;1811	Q9C093-4;Q9C093	.;SPEF2_HUMAN	D	1811;608	ENSP00000348314:E1811D;ENSP00000303843:E608D	ENSP00000303843:E608D	E	+	3	2	SPEF2	35850376	0.732000	0.28121	0.868000	0.34077	0.670000	0.39368	-0.060000	0.11712	-0.557000	0.06126	-1.008000	0.02478	GAG	SPEF2	-	NULL		0.313	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	G	NM_144722		35814619	+1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	0.600	C
SPP1	6696	genome.wustl.edu	37	4	88902911	88902911	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:88902911G>A	ENST00000395080.3	+	6	628	c.501G>A	c.(499-501)ctG>ctA	p.L167L	SPP1_ENST00000360804.4_Silent_p.L140L|SPP1_ENST00000237623.7_Silent_p.L153L|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	167					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TTTATGGACTGAGGTCAAAAT	0.473																																																	0													133.0	122.0	126.0					4																	88902911		2203	4300	6503	SO:0001819	synonymous_variant	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.501G>A	4.37:g.88902911G>A			B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Silent	SNP	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin	p.L167	ENST00000395080.3	37	c.501	CCDS43250.1	4																																																																																			SPP1	-	pfam_Osteopontin,smart_Osteopontin		0.473	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	G			88902911	+1	no_errors	ENST00000395080	ensembl	human	known	70_37	silent	SNP	0.375	A
STEAP4	79689	genome.wustl.edu	37	7	87912107	87912107	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:87912107C>T	ENST00000380079.4	-	3	934	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.R278Q	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	278	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)	p.R278P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTCTGGGAATCGACGGTATTT	0.478																																																	1	Substitution - Missense(1)	lung(1)											92.0	89.0	90.0					7																	87912107		1970	4149	6119	SO:0001583	missense	79689			AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.833G>A	7.37:g.87912107C>T	ENSP00000369419:p.Arg278Gln		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420	p.R278Q	ENST00000380079.4	37	c.833	CCDS43611.1	7	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760737	0.89932	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	D;D	0.91407	-2.84;-2.84	6.08	4.27	0.50696	Flavoprotein transmembrane component (1);	0.102711	0.64402	N	0.000001	D	0.90909	0.7143	M	0.75777	2.31	0.51233	D	0.999915	D;D	0.57257	0.979;0.979	P;P	0.46796	0.527;0.527	D	0.91473	0.5198	10	0.66056	D	0.02	-5.4553	12.1705	0.54155	0.0:0.8637:0.0:0.1363	.	278;278	C9JS50;Q687X5	.;STEA4_HUMAN	Q	278	ENSP00000369419:R278Q;ENSP00000394399:R278Q	ENSP00000369419:R278Q	R	-	2	0	STEAP4	87750043	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	4.968000	0.63728	1.579000	0.49836	0.591000	0.81541	CGA	STEAP4	-	pfam_Fe3_Rdtase_TM_dom		0.478	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP4	HGNC	protein_coding	OTTHUMT00000332712.4	C	NM_024636		87912107	-1	no_errors	ENST00000380079	ensembl	human	known	70_37	missense	SNP	0.997	T
STX1B	112755	genome.wustl.edu	37	16	31008859	31008859	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:31008859G>C	ENST00000215095.5	-	5	549	c.318C>G	c.(316-318)aaC>aaG	p.N106K	STX1B_ENST00000565419.1_Missense_Mutation_p.N106K	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	106				LNRSSAD -> STAPRPI (in Ref. 2; BAA07152). {ECO:0000305}.	intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						CGGAGGAACGGTTCAGCCCCT	0.706																																																	0													45.0	39.0	41.0					16																	31008859		2197	4299	6496	SO:0001583	missense	112755			AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.318C>G	16.37:g.31008859G>C	ENSP00000215095:p.Asn106Lys		Q15531|Q2VPS2	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.N106K	ENST00000215095.5	37	c.318	CCDS10699.1	16	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139649	0.56936	.	.	ENSG00000099365	ENST00000215095	T	0.18960	2.18	4.38	2.35	0.29111	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.15392	0.0371	L	0.43152	1.355	0.58432	D	0.999999	B;B	0.20550	0.046;0.046	B;B	0.23574	0.047;0.047	T	0.08066	-1.0740	10	0.28530	T	0.3	.	5.6135	0.17418	0.3691:0.0:0.6309:0.0	.	106;106	Q2VPS2;P61266	.;STX1B_HUMAN	K	106	ENSP00000215095:N106K	ENSP00000215095:N106K	N	-	3	2	STX1B	30916360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.179000	0.58290	0.428000	0.26173	0.655000	0.94253	AAC	STX1B	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N		0.706	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1B	HGNC	protein_coding	OTTHUMT00000255521.2	G			31008859	-1	no_errors	ENST00000215095	ensembl	human	known	70_37	missense	SNP	1.000	C
SYNPO2	171024	genome.wustl.edu	37	4	119952562	119952562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:119952562delA	ENST00000429713.2	+	4	2814	c.2632delA	c.(2632-2634)aaafs	p.K878fs	SYNPO2_ENST00000434046.2_Frame_Shift_Del_p.K878fs|SYNPO2_ENST00000307142.4_Frame_Shift_Del_p.K878fs|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	878						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTCTTTGCTAAAAGGCAGTC	0.547																																																	0													126.0	124.0	125.0					4																	119952562		2203	4300	6503	SO:0001589	frameshift_variant	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2632delA	4.37:g.119952562delA	ENSP00000395143:p.Lys878fs		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R879fs	ENST00000429713.2	37	c.2632	CCDS47129.1	4																																																																																			SYNPO2	-	NULL		0.547	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	A			119952562	+1	no_errors	ENST00000307142	ensembl	human	known	70_37	frame_shift_del	DEL	0.999	-
ZBTB22	9278	genome.wustl.edu	37	6	33281142	33281142	+	IGR	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr6:33281142G>A	ENST00000431845.2	-	0	2651				TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000475304.1_Silent_p.S107S|TAPBP_ENST00000426633.2_Silent_p.S107S|TAPBP_ENST00000434618.2_Silent_p.S107S|TAPBP_ENST00000456592.2_Silent_p.S107S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGGTCAGGCCGCTGGCCCATT	0.697																																																	0													16.0	20.0	18.0					6																	33281142		2193	4294	6487	SO:0001628	intergenic_variant	6892			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281142G>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.S107	ENST00000431845.2	37	c.321	CCDS4775.1	6																																																																																			TAPBP	-	NULL		0.697	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000076183.2	G			33281142	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	silent	SNP	0.018	A
TEP1	7011	genome.wustl.edu	37	14	20849739	20849739	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:20849739C>G	ENST00000262715.5	-	31	4571	c.4531G>C	c.(4531-4533)Gag>Cag	p.E1511Q	TEP1_ENST00000556935.1_Missense_Mutation_p.E1403Q|TEP1_ENST00000545983.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1511					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCGTGTCCTCTAGCCCTGGC	0.647																																																	0													158.0	138.0	145.0					14																	20849739		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4531G>C	14.37:g.20849739C>G	ENSP00000262715:p.Glu1511Gln		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1511Q	ENST00000262715.5	37	c.4531	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	8.063	0.768457	0.15983	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.50277	0.79;0.75	5.42	2.12	0.27331	.	0.401240	0.27881	N	0.017464	T	0.33030	0.0849	L	0.36672	1.1	0.22982	N	0.998473	B;B;B	0.20052	0.037;0.041;0.022	B;B;B	0.17433	0.018;0.016;0.008	T	0.16988	-1.0384	10	0.34782	T	0.22	-13.0223	7.4771	0.27382	0.0:0.6778:0.1439:0.1783	.	1403;854;1511	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Q	1511;1511;1403	ENSP00000262715:E1511Q;ENSP00000452574:E1403Q	ENSP00000262715:E1511Q	E	-	1	0	TEP1	19919579	0.050000	0.20438	0.053000	0.19242	0.602000	0.36980	-0.059000	0.11731	0.658000	0.30925	0.563000	0.77884	GAG	TEP1	-	NULL		0.647	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20849739	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	0.420	G
TIMM17B	10245	genome.wustl.edu	37	X	48750899	48750899	+	3'UTR	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:48750899G>C	ENST00000376582.3	-	0	780				TIMM17B_ENST00000465150.2_3'UTR|TIMM17B_ENST00000495490.2_3'UTR|TIMM17B_ENST00000396779.3_3'UTR|TIMM17B_ENST00000472645.1_5'UTR	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CTAGGGAGCAGAGTAGAAACC	0.627																																																	0																																										SO:0001624	3_prime_UTR_variant	10245			AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.*113C>G	X.37:g.48750899G>C			A8K2E2|J3KPV3|Q9UJV0	RNA	SNP	-	NULL	ENST00000376582.3	37	NULL	CCDS14308.1	X																																																																																			TIMM17B	-	-		0.627	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM17B	HGNC	protein_coding	OTTHUMT00000083411.2	G	NM_005834		48750899	-1	no_errors	ENST00000465150	ensembl	human	known	70_37	rna	SNP	0.014	C
TMEM161B	153396	genome.wustl.edu	37	5	87494811	87494811	+	Silent	SNP	C	C	T	rs201032572		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr5:87494811C>T	ENST00000296595.6	-	10	1195	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	TMEM161B_ENST00000514135.1_Silent_p.T357T|TMEM161B_ENST00000512429.1_Silent_p.T346T|TMEM161B_ENST00000506536.1_Silent_p.T175T|TMEM161B_ENST00000515293.1_5'Flank|TMEM161B_ENST00000511218.1_Silent_p.T148T	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	357						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GTAGCTCAACCGTGCTTATTC	0.373																																																	0																																										SO:0001819	synonymous_variant	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1071G>A	5.37:g.87494811C>T			Q5CZH7|Q6UWQ6	Silent	SNP	pfam_Transmembrane_161A/B	p.T357	ENST00000296595.6	37	c.1071	CCDS4065.1	5																																																																																			TMEM161B	-	pfam_Transmembrane_161A/B		0.373	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161B	HGNC	protein_coding	OTTHUMT00000254094.1	C	NM_153354		87494811	-1	no_errors	ENST00000296595	ensembl	human	known	70_37	silent	SNP	0.043	T
TNFRSF12A	51330	genome.wustl.edu	37	16	3071954	3071954	+	3'UTR	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:3071954G>A	ENST00000326577.4	+	0	603				THOC6_ENST00000574549.1_5'Flank|TNFRSF12A_ENST00000575124.1_Silent_p.*227*|THOC6_ENST00000326266.8_5'Flank|CLDN6_ENST00000396925.1_5'Flank|TNFRSF12A_ENST00000341627.5_3'UTR|THOC6_ENST00000575576.1_5'Flank|THOC6_ENST00000253952.9_5'Flank|TNFRSF12A_ENST00000573001.1_3'UTR	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A						angiogenesis (GO:0001525)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of angiogenesis (GO:0045765)|regulation of wound healing (GO:0061041)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				lung(1)|skin(1)	2						GGGGGGCGGTGAATCACCTCT	0.627																																																	0																																										SO:0001624	3_prime_UTR_variant	51330			AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18152	protein-coding gene	gene with protein product		605914				10751351, 10551889	Standard	NM_016639		Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.*127G>A	16.37:g.3071954G>A			D3DUA6|Q9HCS0	Silent	SNP	NULL	p.*227	ENST00000326577.4	37	c.680	CCDS10489.1	16																																																																																			TNFRSF12A	-	NULL		0.627	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF12A	HGNC	protein_coding	OTTHUMT00000250990.1	G			3071954	+1	no_errors	ENST00000575124	ensembl	human	putative	70_37	silent	SNP	0.086	A
TNIK	23043	genome.wustl.edu	37	3	170875260	170875260	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:170875260G>A	ENST00000436636.2	-	12	1554	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	TNIK_ENST00000538048.1_Missense_Mutation_p.R404W|TNIK_ENST00000341852.6_Missense_Mutation_p.R404W|TNIK_ENST00000460047.1_Missense_Mutation_p.R404W|TNIK_ENST00000369326.5_Missense_Mutation_p.R404W|TNIK_ENST00000488470.1_Missense_Mutation_p.R404W|TNIK_ENST00000475336.1_Missense_Mutation_p.R404W|TNIK_ENST00000284483.8_Missense_Mutation_p.R404W|TNIK_ENST00000470834.1_Missense_Mutation_p.R404W|TNIK_ENST00000357327.5_Missense_Mutation_p.R404W	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	404	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTCCAgccgccgcctctgc	0.647																																																	0													11.0	15.0	13.0					3																	170875260		2048	4189	6237	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1210C>T	3.37:g.170875260G>A	ENSP00000399511:p.Arg404Trp		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R404W	ENST00000436636.2	37	c.1210	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026684	0.75390	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.44482	3.67;0.92;3.63;0.96;3.67;0.92;0.92;3.63;3.63;0.92	5.61	0.565	0.17309	.	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.81112	2.525	0.51012	D	0.999902	D;D;D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.997	P;P;P;P;P;P;P;P	0.56916	0.809;0.809;0.809;0.809;0.809;0.809;0.809;0.649	T	0.70185	-0.4941	10	0.87932	D	0	.	16.1241	0.81380	0.0:0.0:0.1915:0.8085	.	404;404;404;404;404;404;404;404	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	W	404	ENSP00000399511:R404W;ENSP00000358332:R404W;ENSP00000443278:R404W;ENSP00000345352:R404W;ENSP00000284483:R404W;ENSP00000418156:R404W;ENSP00000349880:R404W;ENSP00000418916:R404W;ENSP00000418378:R404W;ENSP00000419990:R404W	ENSP00000284483:R404W	R	-	1	2	TNIK	172357954	0.999000	0.42202	0.996000	0.52242	0.802000	0.45316	1.291000	0.33330	0.147000	0.19030	-0.324000	0.08512	CGG	TNIK	-	NULL		0.647	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	G	XM_039796		170875260	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIM2	23321	genome.wustl.edu	37	4	154216995	154216995	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:154216995C>T	ENST00000437508.2	+	6	1437	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	TRIM2_ENST00000338700.5_Silent_p.I439I|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	412					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		ACCAGCACATCCGAGGCAGCC	0.557																																																	0													106.0	101.0	103.0					4																	154216995		2203	4300	6503	SO:0001819	synonymous_variant	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1236C>T	4.37:g.154216995C>T			D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.I439	ENST00000437508.2	37	c.1317	CCDS47147.1	4																																																																																			TRIM2	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.557	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	C			154216995	+1	no_errors	ENST00000338700	ensembl	human	known	70_37	silent	SNP	1.000	T
TRPV6	55503	genome.wustl.edu	37	7	142575435	142575435	+	Silent	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr7:142575435G>C	ENST00000359396.3	-	3	563	c.318C>G	c.(316-318)gtC>gtG	p.V106V	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	106					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGGCTCAAAGACCAGCTCCG	0.577																																																	0													83.0	86.0	85.0					7																	142575435		2203	4300	6503	SO:0001819	synonymous_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.318C>G	7.37:g.142575435G>C			A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.V106	ENST00000359396.3	37	c.318	CCDS5874.1	7																																																																																			TRPV6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel		0.577	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	G	NM_014274		142575435	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	silent	SNP	0.983	C
TSHZ1	10194	genome.wustl.edu	37	18	72999842	72999842	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr18:72999842C>T	ENST00000580243.1	+	2	2828	c.2480C>T	c.(2479-2481)tCg>tTg	p.S827L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.S782L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	827					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTGGCTGATTCGGTGGCATCA	0.577																																																	0													64.0	63.0	64.0					18																	72999842		2203	4300	6503	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2480C>T	18.37:g.72999842C>T	ENSP00000464391:p.Ser827Leu		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.S827L	ENST00000580243.1	37	c.2480		18	.	.	.	.	.	.	.	.	.	.	C	0.497	-0.872788	0.02570	.	.	ENSG00000179981	ENST00000322038	T	0.12569	2.67	5.26	4.39	0.52855	.	1.009570	0.07929	N	0.977217	T	0.18299	0.0439	L	0.59436	1.845	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.45745	-0.9240	10	0.56958	D	0.05	-2.4772	9.2822	0.37735	0.0:0.7691:0.1542:0.0767	.	827	Q6ZSZ6	TSH1_HUMAN	L	782	ENSP00000323584:S782L	ENSP00000323584:S782L	S	+	2	0	TSHZ1	71128830	0.272000	0.24172	0.000000	0.03702	0.004000	0.04260	4.623000	0.61247	-1.838000	0.01187	-0.910000	0.02820	TCG	TSHZ1	-	NULL		0.577	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	C	NM_005786		72999842	+1	no_errors	ENST00000580243	ensembl	human	known	70_37	missense	SNP	0.000	T
TTC28	23331	genome.wustl.edu	37	22	28494913	28494913	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr22:28494913G>A	ENST00000397906.2	-	10	3678	c.3537C>T	c.(3535-3537)ctC>ctT	p.L1179L		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1179					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CTAGGCTGACGAGCACCCGCT	0.547																																																	0													117.0	108.0	111.0					22																	28494913		692	1591	2283	SO:0001819	synonymous_variant	23331			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.3537C>T	22.37:g.28494913G>A			K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1179	ENST00000397906.2	37	c.3537	CCDS46678.1	22																																																																																			TTC28	-	NULL		0.547	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	G	XM_929318		28494913	-1	no_errors	ENST00000397906	ensembl	human	novel	70_37	silent	SNP	0.061	A
TTC3	7267	genome.wustl.edu	37	21	38528979	38528979	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr21:38528979C>G	ENST00000399017.2	+	28	5510	c.2763C>G	c.(2761-2763)ttC>ttG	p.F921L	TTC3_ENST00000355666.1_Missense_Mutation_p.F921L|TTC3_ENST00000354749.2_Missense_Mutation_p.F921L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	921					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGGAACTTTCTTTTCTCGTT	0.348																																					Ovarian(38;194 1649 35661)												0													95.0	91.0	93.0					21																	38528979		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2763C>G	21.37:g.38528979C>G	ENSP00000381981:p.Phe921Leu		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.F921L	ENST00000399017.2	37	c.2763	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.470917|3.470917	0.63625|0.63625	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.34275|.	1.37;1.41;1.45;1.45;1.45|.	5.44|5.44	0.28|0.28	0.15682|0.15682	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.60843|0.60843	0.2300|0.2300	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.70716|.	0.97|.	T|T	0.55341|0.55341	-0.8156|-0.8156	10|5	0.87932|.	D|.	0|.	-27.8639|-27.8639	8.6094|8.6094	0.33793|0.33793	0.0:0.3051:0.0:0.6949|0.0:0.3051:0.0:0.6949	.|.	921|.	P53804|.	TTC3_HUMAN|.	L|C	921;903;921;921;921|59	ENSP00000403943:F921L;ENSP00000391891:F903L;ENSP00000347889:F921L;ENSP00000381981:F921L;ENSP00000346791:F921L|.	ENSP00000346791:F921L|.	F|S	+|+	3|2	2|0	TTC3|TTC3	37450849|37450849	0.968000|0.968000	0.33430|0.33430	0.137000|0.137000	0.22149|0.22149	0.977000|0.977000	0.68977|0.68977	0.312000|0.312000	0.19397|0.19397	-0.112000|-0.112000	0.11979|0.11979	-0.302000|-0.302000	0.09304|0.09304	TTC|TCT	TTC3	-	NULL		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	C			38528979	+1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	0.681	G
TTC3	7267	genome.wustl.edu	37	21	38529195	38529195	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr21:38529195C>G	ENST00000399017.2	+	28	5726	c.2979C>G	c.(2977-2979)ttC>ttG	p.F993L	TTC3_ENST00000355666.1_Missense_Mutation_p.F993L|TTC3_ENST00000354749.2_Missense_Mutation_p.F993L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	993					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F993L(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAGATGAATTCTTTGATATAA	0.368																																					Ovarian(38;194 1649 35661)												1	Substitution - Missense(1)	endometrium(1)											80.0	81.0	81.0					21																	38529195		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2979C>G	21.37:g.38529195C>G	ENSP00000381981:p.Phe993Leu		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.F993L	ENST00000399017.2	37	c.2979	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.025352|4.025352	0.75390|0.75390	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.18338|.	2.23;2.22;2.48;2.48;2.48|.	5.78|5.78	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.64125|0.64125	0.2570|0.2570	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.76071|.	0.987;0.97|.	T|T	0.60964|0.60964	-0.7158|-0.7158	10|5	0.87932|.	D|.	0|.	-12.8941|-12.8941	10.2477|10.2477	0.43352|0.43352	0.0:0.8572:0.0:0.1428|0.0:0.8572:0.0:0.1428	.|.	51;993|.	Q5GIT6;P53804|.	.;TTC3_HUMAN|.	L|C	993;975;993;993;993|131	ENSP00000403943:F993L;ENSP00000391891:F975L;ENSP00000347889:F993L;ENSP00000381981:F993L;ENSP00000346791:F993L|.	ENSP00000346791:F993L|.	F|S	+|+	3|2	2|0	TTC3|TTC3	37451065|37451065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.461000|1.461000	0.35255|0.35255	2.890000|2.890000	0.99128|0.99128	0.655000|0.655000	0.94253|0.94253	TTC|TCT	TTC3	-	NULL		0.368	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	C			38529195	+1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	1.000	G
TTC5	91875	genome.wustl.edu	37	14	20767589	20767591	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:20767589_20767591delAGG	ENST00000258821.3	-	4	469_471	c.413_415delCCT	c.(412-417)tccttg>ttg	p.S138del		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	138					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGGTTTTGCAAGGAGACTTTGTT	0.463																																																	0																																										SO:0001651	inframe_deletion	91875			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.413_415delCCT	14.37:g.20767589_20767591delAGG	ENSP00000258821:p.Ser138del		A8MQ18|Q96HF9	In_Frame_Del	DEL	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S138in_frame_del	ENST00000258821.3	37	c.415_413	CCDS9546.1	14																																																																																			TTC5	-	NULL		0.463	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	HGNC	protein_coding	OTTHUMT00000073529.4	AGG	NM_138376		20767591	-1	no_errors	ENST00000258821	ensembl	human	known	70_37	in_frame_del	DEL	0.997:0.983:1.000	-
TTN	7273	genome.wustl.edu	37	2	179577844	179577844	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:179577844G>A	ENST00000591111.1	-	91	26290	c.26066C>T	c.(26065-26067)tCt>tTt	p.S8689F	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7762F|TTN_ENST00000589042.1_Missense_Mutation_p.S9006F|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12846	Ig-like 69.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATTCATCAGAACCAGCCAT	0.373																																																	0													76.0	76.0	76.0					2																	179577844		1965	4148	6113	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26066C>T	2.37:g.179577844G>A	ENSP00000465570:p.Ser8689Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S7762F	ENST00000591111.1	37	c.23285		2	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129425	0.37630	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	5.85	5.85	0.93711	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72285	0.3441	M	0.79475	2.455	0.80722	D	1	B	0.19331	0.035	B	0.23419	0.046	T	0.69888	-0.5023	9	0.87932	D	0	.	20.1708	0.98159	0.0:0.0:1.0:0.0	.	8689	Q8WZ42	TITIN_HUMAN	F	7762	ENSP00000343764:S7762F	ENSP00000343764:S7762F	S	-	2	0	TTN	179286089	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.407000	0.59754	2.761000	0.94854	0.655000	0.94253	TCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179577844	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
UBA7	7318	genome.wustl.edu	37	3	49847050	49847050	+	Silent	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:49847050C>T	ENST00000333486.3	-	16	2171	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	671					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAAGAGCCCACGCCACACAGT	0.547																																																	0													97.0	99.0	98.0					3																	49847050		2203	4300	6503	SO:0001819	synonymous_variant	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2013G>A	3.37:g.49847050C>T			Q9BRB2	Silent	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.A671	ENST00000333486.3	37	c.2013	CCDS2805.1	3																																																																																			UBA7	-	superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1		0.547	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	C	NM_003335		49847050	-1	no_errors	ENST00000333486	ensembl	human	known	70_37	silent	SNP	0.128	T
UCK1	83549	genome.wustl.edu	37	9	134400277	134400277	+	3'UTR	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:134400277G>C	ENST00000372215.4	-	0	1077				RP11-334J6.6_ENST00000415423.1_RNA|UCK1_ENST00000372211.3_3'UTR|UCK1_ENST00000372210.3_3'UTR|UCK1_ENST00000372208.3_3'UTR|UCK1_ENST00000459858.1_5'Flank	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1						CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		TGACACATCTGAGTTTCCACT	0.582																																					Melanoma(42;523 1129 28385 43975 48113)												0																																										SO:0001624	3_prime_UTR_variant	83549			AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.*150C>G	9.37:g.134400277G>C			Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	RNA	SNP	-	NULL	ENST00000372215.4	37	NULL	CCDS6944.1	9																																																																																			UCK1	-	-		0.582	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK1	HGNC	protein_coding	OTTHUMT00000054726.1	G	NM_031432		134400277	-1	no_errors	ENST00000484876	ensembl	human	known	70_37	rna	SNP	0.000	C
CCDC144A	9720	genome.wustl.edu	37	17	16703657	16703657	+	3'UTR	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr17:16703657C>T	ENST00000443444.2	+	0	6596				RP11-219A15.4_ENST00000602730.1_RNA|USP32P1_ENST00000393005.2_RNA|RP11-219A15.1_ENST00000448331.3_3'UTR			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		AGAAGACACTCATATTAAGCC	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	162632			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000443444.2:c.*2172C>T	17.37:g.16703657C>T			O60311|Q6ZU57	RNA	SNP	-	NULL	ENST00000443444.2	37	NULL	CCDS45621.1	17																																																																																			USP32P1	-	-		0.388	CCDC144A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP32P1	HGNC	protein_coding		C			16703657	+1	no_errors	ENST00000341745	ensembl	human	known	70_37	rna	SNP	0.816	T
USP48	84196	genome.wustl.edu	37	1	22021695	22021695	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:22021695C>T	ENST00000308271.9	-	23	3395	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	USP48_ENST00000400301.1_Intron|USP48_ENST00000374732.3_Intron|USP48_ENST00000529637.1_Missense_Mutation_p.R928Q	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	916					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TATCTTTTGCCGCTTTGTTCC	0.378																																																	0													133.0	126.0	128.0					1																	22021695		2202	4300	6502	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2747G>A	1.37:g.22021695C>T	ENSP00000309262:p.Arg916Gln		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.R916Q	ENST00000308271.9	37	c.2747	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541217	0.85917	.	.	ENSG00000090686	ENST00000308271;ENST00000529637	T;T	0.05199	3.49;3.48	5.95	5.95	0.96441	.	0.114590	0.56097	D	0.000023	T	0.23370	0.0565	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.994	D;P;D;P	0.75484	0.949;0.637;0.986;0.637	T	0.00010	-1.2450	10	0.45353	T	0.12	.	18.957	0.92662	0.0:1.0:0.0:0.0	.	928;916;41;916	B7ZKS7;B7ZKS3;Q86UV5-6;Q86UV5	.;.;.;UBP48_HUMAN	Q	916;928	ENSP00000309262:R916Q;ENSP00000431949:R928Q	ENSP00000309262:R916Q	R	-	2	0	USP48	21894282	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.972000	0.56838	2.824000	0.97209	0.655000	0.94253	CGG	USP48	-	NULL		0.378	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	C	NM_032236		22021695	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	1.000	T
UTP20	27340	genome.wustl.edu	37	12	101760358	101760358	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:101760358G>A	ENST00000261637.4	+	47	6322	c.6148G>A	c.(6148-6150)Gat>Aat	p.D2050N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2050					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCCAGCACCAGATCCACGTCT	0.502																																																	0													179.0	155.0	163.0					12																	101760358		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6148G>A	12.37:g.101760358G>A	ENSP00000261637:p.Asp2050Asn		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.D2050N	ENST00000261637.4	37	c.6148	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648399	0.87958	.	.	ENSG00000120800	ENST00000261637	T	0.19669	2.13	5.37	5.37	0.77165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	M	0.77820	2.39	0.58432	D	0.999999	P	0.50617	0.937	P	0.49829	0.623	T	0.16394	-1.0404	10	0.18276	T	0.48	-21.639	19.1159	0.93338	0.0:0.0:1.0:0.0	.	2050	O75691	UTP20_HUMAN	N	2050	ENSP00000261637:D2050N	ENSP00000261637:D2050N	D	+	1	0	UTP20	100284489	1.000000	0.71417	0.627000	0.29227	0.807000	0.45602	6.040000	0.70980	2.508000	0.84585	0.563000	0.77884	GAT	UTP20	-	superfamily_ARM-type_fold		0.502	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101760358	+1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.999	A
VAV3	10451	genome.wustl.edu	37	1	108315446	108315446	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr1:108315446C>T	ENST00000370056.4	-	5	740	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.E156K|VAV3_ENST00000371846.4_Missense_Mutation_p.E91K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	156					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AGATCTTCTTCATCTTCCACA	0.388																																																	0													163.0	151.0	155.0					1																	108315446		2203	4300	6503	SO:0001583	missense	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.466G>A	1.37:g.108315446C>T	ENSP00000359073:p.Glu156Lys		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin	p.E156K	ENST00000370056.4	37	c.466	CCDS785.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.55|17.55	3.417791|3.417791	0.62622|0.62622	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.28895|.	1.59;1.59;1.59|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Calponin homology domain (1);|.	0.103295|.	0.64402|.	D|.	0.000004|.	T|T	0.64249|0.64249	0.2581|0.2581	L|L	0.50333|0.50333	1.59|1.59	0.51233|0.51233	D|D	0.999915|0.999915	B;P;P|.	0.39071|.	0.033;0.653;0.658|.	B;B;B|.	0.37888|.	0.066;0.26;0.24|.	T|T	0.57940|0.57940	-0.7724|-0.7724	10|5	0.56958|.	D|.	0.05|.	.|.	19.4308|19.4308	0.94765|0.94765	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	156;156;156|.	B7ZLR1;E9PQ97;Q9UKW4|.	.;.;VAV3_HUMAN|.	K|I	156;156;91|150	ENSP00000359073:E156K;ENSP00000432540:E156K;ENSP00000360912:E91K|.	ENSP00000359073:E156K|.	E|M	-|-	1|3	0|0	VAV3|VAV3	108116969|108116969	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.359000|0.359000	0.29487|0.29487	6.538000|6.538000	0.73852|0.73852	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|ATG	VAV3	-	superfamily_CH-domain		0.388	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	C	NM_006113		108315446	-1	no_errors	ENST00000370056	ensembl	human	known	70_37	missense	SNP	1.000	T
VRTN	55237	genome.wustl.edu	37	14	74824599	74824599	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:74824599G>A	ENST00000256362.4	+	2	1354	c.1113G>A	c.(1111-1113)atG>atA	p.M371I		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	371					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGCTGGGCATGGAGGAGCTAG	0.647																																																	0													38.0	38.0	38.0					14																	74824599		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1113G>A	14.37:g.74824599G>A	ENSP00000256362:p.Met371Ile		Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.M371I	ENST00000256362.4	37	c.1113	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.131224	0.01756	.	.	ENSG00000133980	ENST00000256362	T	0.41400	1.0	4.57	3.67	0.42095	.	0.731972	0.12346	U	0.477067	T	0.19327	0.0464	N	0.08118	0	0.20307	N	0.999917	B	0.12013	0.005	B	0.09377	0.004	T	0.22068	-1.0227	10	0.06625	T	0.88	-13.1917	8.4347	0.32780	0.18:0.0:0.82:0.0	.	371	Q9H8Y1	VRTN_HUMAN	I	371	ENSP00000256362:M371I	ENSP00000256362:M371I	M	+	3	0	VRTN	73894352	1.000000	0.71417	0.041000	0.18516	0.035000	0.12851	1.328000	0.33758	1.134000	0.42165	0.561000	0.74099	ATG	VRTN	-	NULL		0.647	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	G	NM_018228		74824599	+1	no_errors	ENST00000256362	ensembl	human	known	70_37	missense	SNP	0.666	A
VRTN	55237	genome.wustl.edu	37	14	74824609	74824609	+	Missense_Mutation	SNP	G	G	C	rs371810735		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:74824609G>C	ENST00000256362.4	+	2	1364	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	375					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGAGGAGCTAGAGAAGCTGCC	0.632																																																	0													43.0	42.0	42.0					14																	74824609		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1123G>C	14.37:g.74824609G>C	ENSP00000256362:p.Glu375Gln		Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.E375Q	ENST00000256362.4	37	c.1123	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	G	7.806	0.714629	0.15306	.	.	ENSG00000133980	ENST00000256362	T	0.47177	0.85	3.76	3.76	0.43208	.	0.358301	0.26855	N	0.022159	T	0.29256	0.0728	N	0.24115	0.695	0.35563	D	0.804836	B	0.32781	0.384	B	0.25884	0.064	T	0.41502	-0.9505	10	0.40728	T	0.16	-0.5014	9.9348	0.41545	0.0:0.2898:0.7102:0.0	.	375	Q9H8Y1	VRTN_HUMAN	Q	375	ENSP00000256362:E375Q	ENSP00000256362:E375Q	E	+	1	0	VRTN	73894362	1.000000	0.71417	0.915000	0.36163	0.202000	0.24057	2.809000	0.47971	1.936000	0.56123	0.561000	0.74099	GAG	VRTN	-	NULL		0.632	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	G	NM_018228		74824609	+1	no_errors	ENST00000256362	ensembl	human	known	70_37	missense	SNP	1.000	C
VRTN	55237	genome.wustl.edu	37	14	74824914	74824914	+	Silent	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr14:74824914G>A	ENST00000256362.4	+	2	1669	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	476					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TTCCTTGGAAGAGTGAGGCGG	0.657																																																	0													35.0	40.0	39.0					14																	74824914		2203	4295	6498	SO:0001819	synonymous_variant	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1428G>A	14.37:g.74824914G>A			Q9NVC7	Silent	SNP	pfam_Transposase_8	p.K476	ENST00000256362.4	37	c.1428	CCDS9830.1	14																																																																																			VRTN	-	NULL		0.657	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	G	NM_018228		74824914	+1	no_errors	ENST00000256362	ensembl	human	known	70_37	silent	SNP	0.822	A
WHAMMP2	440253	genome.wustl.edu	37	15	28990895	28990895	+	RNA	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr15:28990895C>T	ENST00000512149.2	+	0	0					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		gcagttgcctcaactaggtga	0.303																																																	0																																												440253			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28990895C>T				RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-		0.303	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	C	NR_026589		28990895	+1	no_errors	ENST00000508764	ensembl	human	putative	70_37	rna	SNP	0.419	T
WIBG	84305	genome.wustl.edu	37	12	56295840	56295840	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:56295840G>C	ENST00000408946.2	-	3	582	c.431C>G	c.(430-432)tCa>tGa	p.S144*	WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000398213.4_Nonsense_Mutation_p.S143*|WIBG_ENST00000557259.1_3'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	144					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|exon-exon junction complex (GO:0035145)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGTGGCAGCTGAGTCAGGCTG	0.577																																																	0													95.0	100.0	99.0					12																	56295840		1946	4154	6100	SO:0001587	stop_gained	84305			BC014976	CCDS41795.1, CCDS44916.1	12q13.2	2008-02-05				ENSG00000170473			30258	protein-coding gene	gene with protein product						12438415, 12483225	Standard	NM_032345		Approved	PYM	uc001sif.1	Q9BRP8	OTTHUMG00000170220	ENST00000408946.2:c.431C>G	12.37:g.56295840G>C	ENSP00000386156:p.Ser144*		B6ZDM5|Q8IXJ8|Q8N8E7	Nonsense_Mutation	SNP	pfam_EJC_Pym,superfamily_EJC_Pym	p.S144*	ENST00000408946.2	37	c.431	CCDS41795.1	12	.	.	.	.	.	.	.	.	.	.	G	4.896	0.166591	0.09339	.	.	ENSG00000170473	ENST00000408946;ENST00000398213	.	.	.	4.83	2.99	0.34606	.	0.464279	0.18482	N	0.139911	.	.	.	.	.	.	0.20563	N	0.999888	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	7.3742	0.26818	0.087:0.0:0.7465:0.1665	.	.	.	.	X	144;143	.	ENSP00000381271:S143X	S	-	2	0	WIBG	54582107	0.294000	0.24380	0.001000	0.08648	0.468000	0.32798	2.292000	0.43549	0.756000	0.33013	0.563000	0.77884	TCA	WIBG	-	NULL		0.577	WIBG-001	KNOWN	basic|CCDS	protein_coding	WIBG	HGNC	protein_coding	OTTHUMT00000408079.1	G	NM_032345		56295840	-1	no_errors	ENST00000408946	ensembl	human	known	70_37	nonsense	SNP	0.002	C
WT1-AS	51352	genome.wustl.edu	37	11	32461152	32461152	+	RNA	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr11:32461152G>C	ENST00000395900.1	+	0	2030				WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000459866.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						CCCTATCTGGGAGCCCGGAAC	0.502																																																	0																																												51352			BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32461152G>C			Q4KMY0|Q96A27	RNA	SNP	-	NULL	ENST00000395900.1	37	NULL		11																																																																																			WT1-AS	-	-		0.502	WT1-AS-001	KNOWN	basic	antisense	WT1-AS	HGNC	antisense	OTTHUMT00000095437.1	G	NR_023920		32461152	+1	no_errors	ENST00000395900	ensembl	human	known	70_37	rna	SNP	0.003	C
WWC2	80014	genome.wustl.edu	37	4	184182333	184182333	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr4:184182333G>C	ENST00000403733.3	+	11	1756	c.1557G>C	c.(1555-1557)caG>caC	p.Q519H	WWC2_ENST00000513834.1_Missense_Mutation_p.Q519H|WWC2_ENST00000378925.3_Missense_Mutation_p.Q421H|WWC2_ENST00000448232.2_Missense_Mutation_p.Q519H|WWC2_ENST00000504005.1_Missense_Mutation_p.Q201H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	519					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGCCTGGCCAGAGTGGACTCT	0.582																																																	0													54.0	47.0	49.0					4																	184182333		2203	4300	6503	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1557G>C	4.37:g.184182333G>C	ENSP00000384222:p.Gln519His		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.Q519H	ENST00000403733.3	37	c.1557	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	G	4.737	0.137057	0.09032	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.11930	3.5;2.73;3.5;3.37;3.39	5.07	2.14	0.27477	.	0.486110	0.20575	N	0.089660	T	0.08626	0.0214	L	0.41961	1.31	0.21652	N	0.999601	P;B	0.41265	0.744;0.006	B;B	0.36666	0.23;0.005	T	0.20706	-1.0267	10	0.15952	T	0.53	-3.937	4.748	0.13047	0.0867:0.4303:0.3513:0.1317	.	519;519	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	H	519;421;519;519;201	ENSP00000384222:Q519H;ENSP00000368205:Q421H;ENSP00000425054:Q519H;ENSP00000398577:Q519H;ENSP00000427569:Q201H	ENSP00000368205:Q421H	Q	+	3	2	WWC2	184419327	0.508000	0.26154	0.125000	0.21846	0.558000	0.35554	0.708000	0.25719	0.725000	0.32318	0.650000	0.86243	CAG	WWC2	-	NULL		0.582	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	G	NM_024949		184182333	+1	no_errors	ENST00000448232	ensembl	human	known	70_37	missense	SNP	0.586	C
XIST	7503	genome.wustl.edu	37	X	73063712	73063712	+	lincRNA	SNP	G	G	A			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:73063712G>A	ENST00000429829.1	-	0	8876					NR_001564.2				X inactive specific transcript (non-protein coding)																		TACTACAAAGGAAAGGTGATG	0.398																																																	0													47.0	44.0	45.0					X																	73063712		876	1991	2867			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063712G>A				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.398	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	G	NR_001564		73063712	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.001	A
YBEY	54059	genome.wustl.edu	37	21	47706844	47706844	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr21:47706844G>C	ENST00000329319.3	+	2	415	c.17G>C	c.(16-18)aGa>aCa	p.R6T	YBEY_ENST00000397692.1_Missense_Mutation_p.R6T|MCM3AP_ENST00000397708.1_5'Flank|YBEY_ENST00000339195.6_Missense_Mutation_p.R6T|YBEY_ENST00000397701.4_Missense_Mutation_p.R6T|YBEY_ENST00000397691.1_Missense_Mutation_p.R6T|YBEY_ENST00000397694.1_Missense_Mutation_p.R6T|MCM3AP_ENST00000291688.1_5'Flank	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	6					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TTGGTGATTAGAAATCTGCAG	0.443																																																	0													72.0	72.0	72.0					21																	47706844		2203	4300	6503	SO:0001583	missense	54059			AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 57"""	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.17G>C	21.37:g.47706844G>C	ENSP00000329614:p.Arg6Thr		B7WPA9|B7WPF7|D3DSN2	Missense_Mutation	SNP	pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd	p.R6T	ENST00000329319.3	37	c.17	CCDS33591.1	21	.	.	.	.	.	.	.	.	.	.	G	19.11	3.762948	0.69763	.	.	ENSG00000182362	ENST00000397701;ENST00000397694;ENST00000329319;ENST00000339195;ENST00000397692;ENST00000397691	.	.	.	5.35	3.53	0.40419	Metalloprotease catalytic domain, predicted (1);	0.127551	0.45361	D	0.000375	T	0.51193	0.1660	M	0.66939	2.045	0.09310	N	1	D;D;D;D;D	0.59767	0.977;0.977;0.977;0.986;0.982	P;P;P;P;P	0.59825	0.787;0.787;0.787;0.815;0.864	T	0.44360	-0.9333	9	0.11182	T	0.66	-8.3169	10.1239	0.42639	0.168:0.0:0.832:0.0	.	6;6;6;6;6	P58557-4;P58557-2;P58557-3;P58557;Q8TBC8	.;.;.;YBEY_HUMAN;.	T	6	.	ENSP00000329614:R6T	R	+	2	0	YBEY	46531272	0.698000	0.27777	0.001000	0.08648	0.828000	0.46876	3.734000	0.55037	0.611000	0.30052	-0.136000	0.14681	AGA	YBEY	-	NULL		0.443	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBEY	HGNC	protein_coding	OTTHUMT00000207265.1	G	NM_058181		47706844	+1	no_errors	ENST00000329319	ensembl	human	known	70_37	missense	SNP	0.044	C
ZC3H12B	340554	genome.wustl.edu	37	X	64709107	64709107	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chrX:64709107G>T	ENST00000338957.4	+	1	493	c.426G>T	c.(424-426)ttG>ttT	p.L142F	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L131F	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	142							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGATGTATTGGCAGAGCTTG	0.478																																																	0													87.0	84.0	85.0					X																	64709107		1937	4128	6065	SO:0001583	missense	340554			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.426G>T	X.37:g.64709107G>T	ENSP00000340839:p.Leu142Phe		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.L142F	ENST00000338957.4	37	c.426	CCDS48131.2	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.315513|2.315513	0.40996|0.40996	.|.	.|.	ENSG00000102053|ENSG00000102053	ENST00000338957;ENST00000423889|ENST00000218172	T;T|.	0.49720|.	0.77;0.78|.	5.36|5.36	3.58|3.58	0.41010|0.41010	.|.	.|0.653230	.|0.13787	.|N	.|0.362813	T|T	0.62245|0.62245	0.2412|0.2412	M|M	0.73430|0.73430	2.235|2.235	0.40513|0.40513	D|D	0.980759|0.980759	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|T	0.53774|0.53774	-0.8391|-0.8391	9|7	0.87932|0.19590	D|T	0|0.45	-21.1108|-21.1108	7.7975|7.7975	0.29156|0.29156	0.2804:0.0:0.7196:0.0|0.2804:0.0:0.7196:0.0	.|.	131|.	Q5HYM0|.	ZC12B_HUMAN|.	F|L	142;131|90	ENSP00000340839:L142F;ENSP00000408077:L131F|.	ENSP00000340839:L142F|ENSP00000218172:W90L	L|W	+|+	3|2	2|0	ZC3H12B|ZC3H12B	64625832|64625832	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.956000|0.956000	0.61745|0.61745	1.119000|1.119000	0.31258|0.31258	0.614000|0.614000	0.30107|0.30107	0.506000|0.506000	0.49869|0.49869	TTG|TGG	ZC3H12B	-	NULL		0.478	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	G	XM_293334		64709107	+1	no_errors	ENST00000338957	ensembl	human	known	70_37	missense	SNP	0.997	T
ZFP90	146198	genome.wustl.edu	37	16	68598252	68598252	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr16:68598252G>C	ENST00000570495.1	+	5	1854	c.1562G>C	c.(1561-1563)gGa>gCa	p.G521A	ZFP90_ENST00000563169.2_Missense_Mutation_p.G521A|ZFP90_ENST00000398253.2_Missense_Mutation_p.G521A			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	521					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATTCATACTGGAGAGAAACCC	0.418																																																	0													60.0	66.0	64.0					16																	68598252		2192	4300	6492	SO:0001583	missense	146198			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1562G>C	16.37:g.68598252G>C	ENSP00000460547:p.Gly521Ala		B2RU00|B3KVE7|Q49AD1|Q96MQ6	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.G521A	ENST00000570495.1	37	c.1562	CCDS42183.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017069	0.75161	.	.	ENSG00000184939	ENST00000398253	T	0.26373	1.74	5.95	5.95	0.96441	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52821	0.1758	M	0.72479	2.2	0.51767	D	0.999936	D	0.89917	1.0	D	0.87578	0.998	T	0.51568	-0.8689	9	0.87932	D	0	-10.188	17.8725	0.88815	0.0:0.0:1.0:0.0	.	521	Q8TF47	ZFP90_HUMAN	A	521	ENSP00000381304:G521A	ENSP00000381304:G521A	G	+	2	0	ZFP90	67155753	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.070000	0.57548	2.823000	0.97156	0.561000	0.74099	GGA	ZFP90	-	pfscan_Znf_C2H2		0.418	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	G	XM_085375		68598252	+1	no_errors	ENST00000398253	ensembl	human	known	70_37	missense	SNP	1.000	C
ZIC1	7545	genome.wustl.edu	37	3	147131190	147131190	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr3:147131190C>T	ENST00000282928.4	+	3	1925	c.1196C>T	c.(1195-1197)tCt>tTt	p.S399F		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	399	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S399C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCGCCAGCTCTGGCTACGAA	0.617																																																	1	Substitution - Missense(1)	ovary(1)											101.0	91.0	95.0					3																	147131190		2203	4300	6503	SO:0001583	missense	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1196C>T	3.37:g.147131190C>T	ENSP00000282928:p.Ser399Phe		Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S399F	ENST00000282928.4	37	c.1196	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932001	0.73442	.	.	ENSG00000152977	ENST00000282928	T	0.14516	2.5	3.37	3.37	0.38596	.	0.000000	0.64402	U	0.000004	T	0.40743	0.1129	M	0.86420	2.815	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.51560	-0.8690	10	0.54805	T	0.06	.	14.7459	0.69490	0.0:1.0:0.0:0.0	.	399	Q15915	ZIC1_HUMAN	F	399	ENSP00000282928:S399F	ENSP00000282928:S399F	S	+	2	0	ZIC1	148613880	1.000000	0.71417	0.906000	0.35671	0.624000	0.37722	7.111000	0.77077	1.431000	0.47355	0.462000	0.41574	TCT	ZIC1	-	NULL		0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	C	NM_003412		147131190	+1	no_errors	ENST00000282928	ensembl	human	known	70_37	missense	SNP	0.999	T
ZIC2	7546	genome.wustl.edu	37	13	100637226	100637226	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr13:100637226G>C	ENST00000376335.3	+	2	1395	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	368					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTGTGAGTTTGAGGGCTGCGA	0.622																																					Pancreas(97;119 1522 31925 44771 48764)												0													110.0	91.0	97.0					13																	100637226		2203	4300	6503	SO:0001583	missense	7546			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1102G>C	13.37:g.100637226G>C	ENSP00000365514:p.Glu368Gln		Q5VYA9|Q9H309	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E368Q	ENST00000376335.3	37	c.1102	CCDS9495.1	13	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695600	0.88830	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.15017	2.46	4.49	3.64	0.41730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	L	0.55990	1.75	0.58432	D	0.999996	D	0.58620	0.983	D	0.66351	0.943	T	0.05354	-1.0890	10	0.72032	D	0.01	.	11.6611	0.51347	0.0889:0.0:0.9111:0.0	.	368	O95409	ZIC2_HUMAN	Q	368;117	ENSP00000365514:E368Q	ENSP00000365514:E368Q	E	+	1	0	ZIC2	99435227	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.548000	0.82154	1.215000	0.43411	0.655000	0.94253	GAG	ZIC2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.622	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2	G	NM_007129		100637226	+1	no_errors	ENST00000376335	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF223	7766	genome.wustl.edu	37	19	44571244	44571244	+	Silent	SNP	C	C	G			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:44571244C>G	ENST00000434772.3	+	5	1518	c.1263C>G	c.(1261-1263)ctC>ctG	p.L421L	ZNF223_ENST00000591793.1_Silent_p.L531L	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L421L(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ATAAGAGACTCCATTGCCGAA	0.418																																																	1	Substitution - coding silent(1)	lung(1)											108.0	109.0	109.0					19																	44571244		2203	4300	6503	SO:0001819	synonymous_variant	7766			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1263C>G	19.37:g.44571244C>G			Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L531	ENST00000434772.3	37	c.1593	CCDS12635.1	19																																																																																			ZNF223	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF223	Uniprot_genename	protein_coding	OTTHUMT00000460469.2	C			44571244	+1	no_errors	ENST00000591793	ensembl	human	known	70_37	silent	SNP	0.292	G
ZNF268	10795	genome.wustl.edu	37	12	133779005	133779005	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr12:133779005G>C	ENST00000536435.2	+	6	1063	c.733G>C	c.(733-735)Gga>Cga	p.G245R	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.G245R|ZNF268_ENST00000537565.1_Missense_Mutation_p.G84R|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000539248.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	245					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AACTGTTATTGGAATAAAATA	0.328																																																	0													37.0	38.0	38.0					12																	133779005		1850	4085	5935	SO:0001583	missense	10795			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.733G>C	12.37:g.133779005G>C	ENSP00000444412:p.Gly245Arg		Q8TDG8|Q96RH4|Q9BZJ9	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.G245R	ENST00000536435.2	37	c.733	CCDS45012.1	12	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501326	0.26861	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.09163	3.08;3.01	4.13	2.0	0.26442	.	.	.	.	.	T	0.12092	0.0294	M	0.63428	1.95	0.09310	N	1	B;B	0.27498	0.053;0.18	B;B	0.31442	0.028;0.13	T	0.30621	-0.9972	8	.	.	.	.	5.5069	0.16858	0.421:0.0:0.579:0.0	.	245;84	Q14587;Q14587-2	ZN268_HUMAN;.	R	245;245;84;84	ENSP00000228289:G245R;ENSP00000445713:G84R	.	G	+	1	0	ZNF268	132289078	0.628000	0.27138	0.011000	0.14972	0.342000	0.28953	2.486000	0.45259	0.255000	0.21593	0.637000	0.83480	GGA	ZNF268	-	NULL		0.328	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF268	HGNC	protein_coding	OTTHUMT00000397191.2	G	NM_152943		133779005	+1	no_errors	ENST00000228289	ensembl	human	known	70_37	missense	SNP	0.034	C
ZNF506	440515	genome.wustl.edu	37	19	19905635	19905635	+	Nonsense_Mutation	SNP	G	G	C	rs77787999		TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:19905635G>C	ENST00000540806.2	-	4	1149	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	ZNF506_ENST00000443905.2_Nonsense_Mutation_p.S354*|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Nonsense_Mutation_p.S322*|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AGAGAGGCTTGAGTACCAGGT	0.403																																																	0													85.0	90.0	88.0					19																	19905635		2147	4280	6427	SO:0001587	stop_gained	440515			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1061C>G	19.37:g.19905635G>C	ENSP00000440625:p.Ser354*		B3KTH6	Nonsense_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.S354*	ENST00000540806.2	37	c.1061	CCDS42531.1	19	.	.	.	.	.	.	.	.	.	.	-	16.37	3.103990	0.56291	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	.	.	.	1.01	1.01	0.19927	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.4069	0.26995	0.0:0.0:1.0:0.0	.	.	.	.	X	354;354;322	.	ENSP00000393835:S354X	S	-	2	0	ZNF506	19766635	0.010000	0.17322	0.220000	0.23810	0.207000	0.24258	0.699000	0.25586	0.430000	0.26230	0.430000	0.28490	TCA	ZNF506	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	HGNC	protein_coding	OTTHUMT00000460794.1	G	XM_036218		19905635	-1	no_errors	ENST00000443905	ensembl	human	known	70_37	nonsense	SNP	0.001	C
ZNF536	9745	genome.wustl.edu	37	19	30935982	30935982	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:30935982C>T	ENST00000355537.3	+	2	1660	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	505					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)					CTGCATCGAGCGGCTGCAGGC	0.647																																																	0													33.0	39.0	37.0					19																	30935982		2190	4278	6468	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.1513C>T	19.37:g.30935982C>T	ENSP00000347730:p.Arg505Trp		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R505W	ENST00000355537.3	37	c.1513	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715920	0.48622	.	.	ENSG00000198597	ENST00000355537	T	0.10382	2.88	5.53	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.47716	1.5	0.48975	D	0.999734	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01524	-1.1333	10	0.72032	D	0.01	-33.6637	14.0449	0.64700	0.5146:0.4854:0.0:0.0	.	505;505	A7E228;O15090	.;ZN536_HUMAN	W	505	ENSP00000347730:R505W	ENSP00000347730:R505W	R	+	1	2	ZNF536	35627822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.197000	0.51028	0.628000	0.30357	0.655000	0.94253	CGG	ZNF536	-	NULL		0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	C	NM_014717		30935982	+1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF571	51276	genome.wustl.edu	37	19	38055835	38055835	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:38055835C>T	ENST00000328550.2	-	4	1594	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E499K|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000451802.2_Missense_Mutation_p.E499K|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.E499K|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGGGCTTTTCACCTGTATGA	0.363																																																	0													79.0	77.0	77.0					19																	38055835		2203	4300	6503	SO:0001583	missense	51276			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1495G>A	19.37:g.38055835C>T	ENSP00000333660:p.Glu499Lys		Q2HIY0|Q3ZCU3|Q9NZX7	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.E499K	ENST00000328550.2	37	c.1495	CCDS12505.1	19	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753429	0.69648	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.24350	1.86;1.86;1.86	3.78	0.287	0.15714	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33118	0.0852	L	0.45470	1.425	0.25030	N	0.991277	P	0.48998	0.918	P	0.58077	0.832	T	0.15206	-1.0445	9	0.56958	D	0.05	.	5.4972	0.16809	0.0:0.6361:0.1657:0.1982	.	499	Q7Z3V5	ZN571_HUMAN	K	499	ENSP00000333660:E499K;ENSP00000392638:E499K;ENSP00000351594:E499K	ENSP00000333660:E499K	E	-	1	0	ZNF571	42747675	0.336000	0.24757	0.013000	0.15412	0.987000	0.75469	1.561000	0.36342	-0.044000	0.13491	0.460000	0.39030	GAA	ZNF571	-	pfscan_Znf_C2H2		0.363	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000458669.1	C	NM_016536		38055835	-1	no_errors	ENST00000328550	ensembl	human	known	70_37	missense	SNP	0.997	T
ZNF544	27300	genome.wustl.edu	37	19	58773145	58773145	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:58773145G>T	ENST00000596652.1	+	6	1407	c.1173G>T	c.(1171-1173)caG>caT	p.Q391H	CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.Q249H|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q363H|ZNF544_ENST00000269829.4_Missense_Mutation_p.Q391H|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q363H|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q363H			Q6NX49	ZN544_HUMAN	zinc finger protein 544	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTTTTAGCCAGAGCTATGACC	0.448																																																	0													88.0	85.0	86.0					19																	58773145		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1173G>T	19.37:g.58773145G>T	ENSP00000469635:p.Gln391His		A8K6J1|Q9UEX4	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.Q391H	ENST00000596652.1	37	c.1173	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052451	0.36181	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.15487	2.42;5.25	2.55	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17492	0.0420	L	0.50919	1.6	0.39369	D	0.966054	B;P;B	0.34662	0.43;0.462;0.132	B;B;B	0.37304	0.117;0.246;0.046	T	0.08513	-1.0718	9	0.36615	T	0.2	.	10.7859	0.46405	0.0:0.0:1.0:0.0	.	363;363;391	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	H	391;363;55	ENSP00000269829:Q391H;ENSP00000394341:Q363H	ENSP00000269829:Q391H	Q	+	3	2	ZNF544	63464957	0.000000	0.05858	0.030000	0.17652	0.749000	0.42624	0.078000	0.14761	1.431000	0.47355	0.491000	0.48974	CAG	ZNF544	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	G	NM_014480		58773145	+1	no_errors	ENST00000269829	ensembl	human	known	70_37	missense	SNP	0.522	T
ZNF638	27332	genome.wustl.edu	37	2	71577290	71577290	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr2:71577290G>C	ENST00000409544.1	+	2	1836	c.1206G>C	c.(1204-1206)caG>caC	p.Q402H	ZNF638_ENST00000355812.3_Missense_Mutation_p.Q402H|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.Q402H|ZNF638_ENST00000264447.4_Missense_Mutation_p.Q402H	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	402					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGATGCCCAGAAGATGAAGA	0.403																																																	0													137.0	136.0	136.0					2																	71577290		2203	4300	6503	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1206G>C	2.37:g.71577290G>C	ENSP00000386433:p.Gln402His		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.Q402H	ENST00000409544.1	37	c.1206	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412347	0.42817	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.74737	-0.29;-0.87;0.29;-0.28;1.28;1.28	5.85	4.98	0.66077	.	0.061195	0.64402	D	0.000004	T	0.77818	0.4187	L	0.27053	0.805	0.37901	D	0.931045	D;D;D;D;D	0.71674	0.995;0.995;0.998;0.996;0.995	D;D;D;D;D	0.80764	0.989;0.989;0.994;0.986;0.989	T	0.82202	-0.0574	10	0.72032	D	0.01	-7.0111	12.774	0.57437	0.079:0.0:0.921:0.0	.	508;402;402;402;402	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	H	402;508;402;402;402;402	ENSP00000386669:Q402H;ENSP00000438189:Q508H;ENSP00000348066:Q402H;ENSP00000367033:Q402H;ENSP00000264447:Q402H;ENSP00000386433:Q402H	ENSP00000264447:Q402H	Q	+	3	2	ZNF638	71430798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.709000	0.54853	1.490000	0.48466	0.655000	0.94253	CAG	ZNF638	-	NULL		0.403	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	G	NM_014497		71577290	+1	no_errors	ENST00000264447	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF658	26149	genome.wustl.edu	37	9	40774032	40774032	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr9:40774032C>T	ENST00000602553.1	-	5	1537	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ZNF658_ENST00000377626.3_Missense_Mutation_p.E415K|ZNF658_ENST00000441795.1_Missense_Mutation_p.E413K			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCACATTCCTCATATTGGTAA	0.408																																																	0													148.0	151.0	150.0					9																	40774032		2203	4300	6503	SO:0001583	missense	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1243G>A	9.37:g.40774032C>T	ENSP00000473484:p.Glu415Lys		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	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.E415K	ENST00000602553.1	37	c.1243	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	c	11.44	1.640026	0.29157	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.15256	2.44;2.44	1.96	-1.93	0.07594	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03651	0.0104	N	0.01679	-0.765	0.09310	N	1	B;B	0.24258	0.1;0.03	B;B	0.19666	0.026;0.008	T	0.36529	-0.9744	9	0.02654	T	1	.	3.1435	0.06463	0.2024:0.2788:0.0:0.5188	.	415;415	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	K	413;415	ENSP00000408462:E413K;ENSP00000366853:E415K	ENSP00000366853:E415K	E	-	1	0	ZNF658	40764032	0.000000	0.05858	0.000000	0.03702	0.482000	0.33219	-3.714000	0.00385	-0.518000	0.06452	0.384000	0.25694	GAG	ZNF658	-	NULL		0.408	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	C	NM_033160		40774032	-1	no_errors	ENST00000377626	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF814	730051	genome.wustl.edu	37	19	58384363	58384363	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3HY-01A-11D-A21Q-09	TCGA-FU-A3HY-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36599ace-d4cd-4bd1-a917-76ec50563e9e	d940ce39-b17e-4275-baf2-7e6253bb92db	g.chr19:58384363G>T	ENST00000435989.2	-	3	2629	c.2395C>A	c.(2395-2397)Cct>Act	p.P799T	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	799					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CACTCATAAGGCTTTTCTCCA	0.403																																																	0													82.0	71.0	74.0					19																	58384363		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2395C>A	19.37:g.58384363G>T	ENSP00000410545:p.Pro799Thr		A6NF35	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.P799T	ENST00000435989.2	37	c.2395	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	15.40	2.821572	0.50633	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.16897	2.31	2.56	0.168	0.15012	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	M	0.69185	2.1	0.22996	N	0.998458	D	0.58268	0.982	P	0.53689	0.732	T	0.11036	-1.0604	9	0.66056	D	0.02	.	6.1515	0.20314	0.1194:0.1909:0.6897:0.0	.	799	B7Z6K7	ZN814_HUMAN	T	799;521	ENSP00000410545:P799T	ENSP00000365378:P521T	P	-	1	0	ZNF814	63076175	1.000000	0.71417	0.018000	0.16275	0.250000	0.25880	4.278000	0.58946	0.008000	0.14787	0.298000	0.19748	CCT	ZNF814	-	pfscan_Znf_C2H2		0.403	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58384363	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	missense	SNP	0.969	T
